Section 1: Prévalence
L'incidence est l'apparition de nouveaux diagnostics au fil du temps dans une cohorte sélectionnée. Sans données longitudinales constituées d'une cohorte spécifique, l'incidence ne peut être déterminée. En raison de l'hétérogénéité des symptômes et de la gravité du TSA, il peut être diagnostiqué chez des enfants d'âges différents. Ce qui est rapporté, c'est l'âge lors de la reconnaissance des symptômes, pas le début réel. Par conséquent, la prévalence est rapportée plus généralement que l'incidence, reflétant les taux de TSA dans la population à un moment donné.
La prévalence déclarée d'enfants atteints de TSA a augmenté au fil du temps et les fournisseurs de soins primaires sont souvent interrogés sur les raisons de cette augmentation. Cette augmentation peut être attribuée à plusieurs facteurs, notamment l'élargissement des critères de diagnostic avec des examens continus Manuel diagnostique et statistique des troubles mentaux (DSM), la définition la plus inclusive des troubles du développement généralisés avec l'adoption de Manuel diagnostique et statistique des troubles mentaux, quatrième édition (DSM-IV) en 1994,8 sensibilisation accrue du public au trouble et à ses symptômes, recommandations pour la détection universelle des TSA,5,9 et une plus grande disponibilité d'intervention précoce et de services scolaires pour les enfants atteints de TSA. En partie, le nombre croissant d'enfants avec un diagnostic de TSA peut refléter un remplacement diagnostique, une reconnaissance du TSA chez des enfants précédemment diagnostiqués principalement avec une déficience intellectuelle ou un syndrome génétique concomitant.10 Une véritable augmentation de la prévalence des TSA associés à d'autres facteurs de risque biologiques est également possible.
Les taux de prévalence dans les populations américains sont similaires à ceux des autres pays industrialisés,11 et des taux plus faibles sont signalés dans les pays aux ressources limitées, où les données épidémiologiques sont plus difficiles à collecter.12 Les données sur des échantillons nationaux suggèrent que la prévalence du TSA se stabilise.2.13 Les études épidémiologiques en cours aident à comprendre les changements dans la prévalence déclarée au fil du temps. Les données épidémiologiques aident à prévoir le besoin de services et à identifier les facteurs de risque possibles. Les méthodes de surveillance comprennent les systèmes d'enregistrement régionaux, étatiques et / ou nationaux; analyse basée sur des dossiers ou des services; enquêtes; et d'autres méthodes, y compris les conclusions de cas basées sur la population.
En 2000, les Centers for Disease Control and Prevention (CDC) des États-Unis. UU. Ils ont créé le Réseau de surveillance de l'autisme et des troubles du développement (ADDM) en tant que système de surveillance de la santé publique basé sur la population pour estimer la prévalence du TSA chez les enfants de 8 ans. Les rapports ADDM publiés en 2014 et 2020 ont révélé des taux de prévalence comparables (environ 1 sur 68),14h15 mais le rapport publié en 20182 a révélé un taux légèrement plus élevé (1 sur 59). Des données supplémentaires au fil du temps aideront à déterminer si les taux se sont stabilisés. Les données ont également révélé une certaine variation des taux de prévalence dans les États participants, avec les taux les plus élevés dans les endroits où les dossiers éducatifs et de santé étaient disponibles pour l'extraction des graphiques et l'application standardisée des critères de diagnostic. La variation régionale de la prévalence peut également refléter la disponibilité des services, les pratiques des prestataires locaux pour la détection des TSA, les politiques éducatives, les ressources scolaires et / ou communautaires et les mandats d'assurance, entre autres facteurs. Le CDC a également publié des données sur la prévalence des TSA chez les enfants de 4 ans en 2010. Un taux de prévalence plus faible a été signalé pour le diagnostic (1,34%) chez ces enfants (environ 30% de moins que chez les enfants). Enfants de 8 ans). La prévalence plus faible identifiée et le taux proportionnel plus élevé d'enfants de 4 ans atteints de TSA et de déficiences intellectuelles peuvent être attribués, en partie, au diagnostic ultérieur d'enfants atteints de TSA et de capacités cognitives de portée moyenne.seize L'Enquête nationale sur la santé des enfants (2011-2012) et l'Enquête nationale sur les enfants ayant des besoins particuliers en matière de soins de santé (2009-2010) ont été analysées pour l'âge auquel les parents ont signalé le diagnostic, ainsi que pour la gravité subjective signalée par le les parents La minorité d'enfants atteints de TSA a été identifiée avant l'âge de 3 ans. Le diagnostic après 6 ans a été rapporté chez un tiers à la moitié des enfants. L'âge après le diagnostic était associé à une présentation légèrement signalée.seize
Les données de surveillance des CDC publiées en 2014 ont révélé que les enfants blancs non hispaniques étaient environ 20% plus susceptibles d'être identifiés avec un TSA avant l'examen des cas que les enfants afro-américains non hispaniques et étaient environ 50% plus Probabilités d'être identifié avec un TSA qui étaient des enfants hispaniques.14 Des données récentes sur la prévalence révèlent une augmentation des taux de TSA chez les enfants hispaniques et afro-américains. Cela peut refléter une conscience plus répandue des symptômes chez les parents, les écoles et les prestataires de soins de santé et de meilleurs taux de détection dans les soins de surveillance de la santé.2 Les études qui examinent les effets de la race et de l'origine ethnique sur l'âge au moment du diagnostic sont contradictoires,7 7 mais le diagnostic précoce des TSA est associé à un niveau socio-économique plus élevé et à un accès aux services. Les enfants afro-américains et hispaniques diagnostiqués avec un TSA à l'âge de 4 ans étaient plus susceptibles d'avoir une déficience intellectuelle coexistante que les enfants blancs non hispaniques, ce qui suggère que certains enfants afro-américains et hispaniques atteints de TSA et d'une intelligence moyenne à supérieure à la moyenne peuvent ne pas ont été identifiés17
Section 2: symptômes cliniques
Malgré les progrès de la compréhension de la neurobiologie et de la génétique des TSA, le diagnostic des TSA continue d'être basé sur l'identification et la notification des symptômes cliniques définis par le comportement. Les défis liés à la détermination de taux de prévalence précis sont en partie liés au besoin de cohérence dans le diagnostic clinique d'un trouble très hétérogène. En 2013, le DSM-5 a consolidé le diagnostic de TSA en une seule catégorie et a souligné l'importance d'identifier les troubles et symptômes coexistants du développement et du comportement. Au cours des années qui se sont écoulées depuis les rapports cliniques 2007 du PAA sur les TSA, la formation professionnelle et la sensibilisation du public ont favorisé la reconnaissance des symptômes pouvant conduire à une identification précoce des TSA, l'utilisation d'approches de dépistage normalisées et prise en charge des caractéristiques médicales et comportementales associées des TSA de l'enfance à l'adolescence.
Bien que les symptômes du TSA soient d'origine neurologique, ils se manifestent comme des caractéristiques comportementales qui sont présentées différemment selon l'âge, le niveau de langage et les capacités cognitives. Les symptômes centraux sont regroupés en 2 domaines (communication / interaction sociale et modèles de comportement restreints et répétitifs), comme décrit dans le DSM-5.1 Le développement atypique dans plusieurs domaines fonctionnels contribue aux symptômes du TSA. Des anomalies dans la compréhension des intentions des autres, une diminution du contact visuel interactif et une utilisation et une compréhension atypiques du geste préfigurent le développement atypique de la communication sociale et du jeu de simulation, ainsi que l'intérêt pour les autres enfants. Les symptômes du TSA sont façonnés par des déficits d'imitation et de traitement de l'information par le biais de modalités sensorielles, telles que la vision (geste) et l'ouïe (langage). Les comportements répétitifs et la persévérance peuvent être des contraintes primaires, mais ils peuvent également être liés au traitement atypique des informations sensorielles ou refléter un désir d'instiller la prévisibilité lorsqu'un individu ne comprend pas les intentions des autres. Le site Web «Apprendre les signes. Agir tôt» du CDC propose des ressources gratuites pour aider les familles à reconnaître les problèmes de développement, y compris l'autisme (https://www.cdc.gov/ncbddd/actearly/), et Autism Navigator (www.autismnavigator.com) a un glossaire vidéo des symptômes chez les jeunes enfants.
Il sera rapporté qu'environ un quart des enfants atteints de TSA ont une régression linguistique ou sociale, généralement entre 18 et 24 mois.18.19 La raison de cette perte de jalons acquis précédemment n'est pas encore connue. Bien qu'une évaluation médicale de la perte d'étape soit indiquée, des antécédents de régression du langage et des interactions sociales chez les enfants atteints de TSA dans la tranche d'âge attendue ne sont probablement pas attribuables à des crises ou à des troubles neurodégénératifs. Gardez à l'esprit que les processus sous-jacents à la régression ne sont pas encore bien compris. Les théories actuelles incluent la synaptique de «taille excessive» en réponse à des facteurs génétiques.20
Critères de diagnostic: DSM-5
Le DSM a joué un rôle central dans l'établissement de critères de diagnostic des troubles mentaux et comportementaux. Le diagnostic d'autisme infantile a été introduit dans le Manuel diagnostique et statistique des troubles mentaux, troisième édition près de 30 ans après la publication de la première édition du DSM en 1952. Les descriptions initiales étaient limitées et concernaient des personnes lourdement handicapées. La publication DSM-IV en 1994 a étendu le diagnostic à un éventail de symptômes appelés troubles du développement généralisés (PDD), qui comprenaient des diagnostics de trouble autistique, le trouble d'Asperger, un trouble du développement non spécifié généralisé (PDD-NOS), un trouble Désintégration infantile et trouble de Rett. Le PDD comprenait des individus ayant des capacités cognitives de fonctionnement inférieur et supérieur. PDD-NOS était une catégorie de diagnostic qui nécessitait certains, mais pas tous, des symptômes centraux nécessaires pour d'autres diagnostics de cette catégorie. Des recherches ultérieures ont montré que les sous-groupes au sein du PDD n'étaient pas reproductibles sur les sites de recherche utilisant les mêmes données de diagnostic.21,22 et ils n'étaient pas stables dans le temps. Le chevauchement entre les sous-groupes définis par le DSM-IV combiné à une incohérence dans leur application sur les sites de recherche confirme la décision de regrouper les sous-groupes en 1 catégorie diagnostique, TSA, dans le DSM-5. Le DSM-IV a divisé les symptômes du TSA en 3 domaines: la détérioration qualitative de la réciprocité sociale, la détérioration qualitative de la communication et les comportements restreints et répétitifs. Dans DSM-5, les symptômes centraux étaient divisés en 2 domaines (communication sociale et interaction sociale et schémas de comportement restrictifs et répétitifs).23 Pour répondre aux critères diagnostiques du TSA par l'utilisation du DSM-5, les 3 symptômes de la différence affective sociale doivent être présents en plus de 2 des 4 symptômes liés aux comportements restrictifs et répétitifs. Les exemples du tableau 1 sont illustratifs mais non exhaustifs. La reconnaissance des symptômes de TSA liés au traitement sensoriel a conduit à l'inclusion de symptômes sensoriels, tels que l'hyper ou l'hyporéactivité à l'entrée sensorielle ou des intérêts inhabituels dans les aspects sensoriels de l'environnement. Les exemples incluent une indifférence apparente à la douleur ou à la température; sensibilité au son, au goût ou aux textures; et un intérêt visuel intense pour les objets ou le mouvement. Le DSM-5 note qu'un diagnostic peut être posé à des âges plus avancés, lorsque les exigences de l'environnement social ou scolaire peuvent entraîner une déficience fonctionnelle.
Presque toutes les personnes ayant un diagnostic de trouble autistique ou de syndrome d'Asperger en utilisant les critères DSM-IV recevraient un diagnostic de TSA en utilisant les critères DSM-5.24 Pour déterminer si les mêmes patients seraient identifiés par les critères DSM-IV et DSM-5, le réseau CDC ADDM a examiné les données d'abstraction de son graphique chez les enfants âgés de 8 ans.25 Cette analyse a révélé que plus de 80% des enfants diagnostiqués avec PDD-NOS seraient également diagnostiqués avec TSA.25 Il est possible que le récit des tableaux résumés ait été influencé par la connaissance des critères du DSM-IV.26 Il existe un niveau élevé d'accord sur les données de surveillance utilisant les critères DSM-IV-TR et DSM-5.
Il a été démontré que les critères du DSM-5 identifient correctement les jeunes enfants et ceux présentant des symptômes bénins.25,27 Ces enfants présentant des symptômes cognitifs et adaptatifs plus légers peuvent être les plus susceptibles d'avoir un changement significatif avec les services d'intervention précoce.
Le DSM-5 a également introduit une approche de la cote de gravité, qui est résumée dans le tableau 2. La cote de gravité reflète la détérioration des symptômes du TSA et les besoins de service qui en découlent pour l'individu. L'indice de gravité n'est pas un score quantifiable qui peut être utilisé pour suivre les progrès à ce stade; En usage clinique, il reflète souvent l'impact des limitations cognitives.28 Des mesures qui tentent de saisir la gravité des symptômes centraux ont été publiées29.30 et permettent de mesurer l'amélioration avec intervention.31 À ce jour, aucune mesure individuelle ne reflète adéquatement la combinaison de la gravité médicale, comportementale et éducative d'une manière qui aide les médecins et les familles à déterminer les progrès de l'intervention dans plusieurs domaines fonctionnels. Les troubles médicaux coexistants affectent également la perception de la gravité et du pronostic des enfants diagnostiqués avec un TSA. Le DSM-5 comprend des spécificateurs de cours qui aident à décrire la variation des symptômes des personnes atteintes de TSA. Les spécificateurs de cours comprennent la présence ou l'absence de déficience intellectuelle, de langage, de catatonie, de conditions médicales et de facteurs étiologiques génétiques ou environnementaux connus. Les patients atteints du syndrome de Rett ne sont plus automatiquement pris en compte avec un diagnostic de TSA selon DSM-5, bien que les personnes atteintes de ce trouble neurogénétique puissent également répondre aux critères diagnostiques de TSA. Les causes génétiques spécifiques des TSA doivent être enregistrées comme spécificateurs pour les personnes atteintes de TSA lorsqu'elles sont identifiées. Le DSM-5 favorise la notation de tous les diagnostics coexistants en tant que spécificateurs.
Le trouble de communication pragmatique sociale est un nouveau diagnostic décrit dans le DSM-5 qui décrit les personnes qui présentent des symptômes fonctionnellement préjudiciables dans l'utilisation du langage social mais qui n'ont pas de comportements habituels ou répétitifs.1 Les personnes affectées doivent avoir des déficits dans l'utilisation de la langue à des fins sociales, la capacité d'adapter leur style de communication au contexte de la communication, la difficulté à suivre les règles de conversation conventionnelles et la difficulté avec les idiomes et les significations non exprimées dans la langue (tableau 3). Comme pour les TSA, les symptômes ne peuvent pas être mieux expliqués avec un autre diagnostic de DSM-5. La recherche et l'expérience avec les diagnostics DSM-5 au fil du temps donneront aux médecins une meilleure idée de la façon dont les TSA et les troubles de la communication sociale sont similaires et différents en termes d'étiologie, de pronostic et de traitement. L'évaluation de l'utilisation du langage (social) pragmatique par un orthophoniste fournit des informations supplémentaires pour considérer ce diagnostic.32 Les caractéristiques du trouble de communication social pragmatique et la meilleure façon de traiter les symptômes nécessitent une étude plus approfondie.
Bien que le DSM-5 fournisse les critères et définitions pour attribuer avec précision les diagnostics de santé mentale et comportementale, le Classification internationale des maladies, dixième révision, modification clinique Il s'agit de l'ensemble des codes standardisés utilisés pour le paiement, ainsi que pour le suivi statistique par le biais des dossiers médicaux électroniques. Les Classification internationale des maladies, dixième révision, modification clinique continue d'inclure les sous-types de diagnostic définis par le DSM-IV.33 Le DSM-5 fournit au clinicien des critères et des définitions pour le diagnostic du TSA et devrait guider le clinicien dans le diagnostic et la gestion du TSA.
Symptômes et conditions concomitantes
Les conditions concomitantes sont courantes chez les enfants atteints de TSA et peuvent avoir de grands effets sur le fonctionnement et la prise en charge clinique de l'enfant et de la famille (voir également la section 5: Interventions). Les exemples incluent des conditions médicales telles que des troubles du sommeil et des convulsions; d'autres diagnostics de développement ou de comportement, tels que le trouble de déficit de l'attention / hyperactivité (TDAH), l'anxiété et les troubles de l'humeur; et les troubles du comportement, tels que le rejet de nourriture, l'automutilation et l'agression.34 Environ 30% des enfants diagnostiqués avec un TSA auront également une déficience intellectuelle,2 et 30% sont peu verbaux.35 De plus en plus, les chercheurs et les médecins reconnaissent comment les troubles concomitants aident à identifier les différences phénotypiques au sein des populations affectées par les TSA, ce qui peut influencer le pronostic et le choix des interventions.
Le pronostic et la trajectoire de développement d'un jeune enfant diagnostiqué avec un TSA ne peuvent généralement pas être prédits au moment du diagnostic. Cependant, la majorité des enfants (≥ 80%) qui reçoivent un diagnostic de TSA après une évaluation approfondie à moins de 3 ans ont conservé leur diagnostic.36,37 Il peut être plus difficile de reconnaître les symptômes légers du TSA chez les enfants de moins de 3 ans, surtout s'ils ont des capacités cognitives moyennes ou supérieures à la moyenne.38 Dans le développement de la petite enfance, les capacités de communication et les symptômes affectifs sociaux peuvent s'améliorer, tandis que les comportements répétitifs peuvent changer, reflétant peut-être la maturation et / ou l'intervention.39 En général, les jeunes enfants atteints de TSA ayant des problèmes de langue semblent avoir plus de difficultés sociales que les enfants atteints de TSA sans problèmes de langue. Les enfants atteints de TSA et de déficience intellectuelle ont les plus grandes difficultés à développer des compétences sociales.40 Le pronostic pour les enfants atteints de TSA dans les sous-groupes phénotypiques et démographiques (par exemple, filles, sous-groupes raciaux et ethniques, enfants atteints de macrocéphalie) doit être étudié plus avant.
Environ 9% des enfants diagnostiqués avec un TSA dans la petite enfance peuvent ne pas répondre aux critères diagnostiques du TSA à l'âge adulte. Les jeunes qui ne répondent plus aux critères de TSA sont plus susceptibles d'avoir des antécédents de compétences cognitives supérieures à l'âge de 2 ans, d'avoir participé à des services d'intervention antérieurs et d'avoir montré une diminution de leurs comportements répétitifs avec le le temps.41 Un changement de diagnostic clinique (par exemple, TDAH ou trouble obsessionnel compulsif (TOC)) est plus probable chez les enfants qui ont été diagnostiqués avec un TSA avant l'âge de 30 mois ou qui ont reçu un diagnostic de PDD-NOS selon le DSM- IV.42,43 Les scores de gravité sont plus susceptibles de s'améliorer chez les jeunes qui ont connu la plus forte augmentation du QI verbal testé.44 Les difficultés de la fonction exécutive sont associées à de moins bons résultats d'adaptation, indépendamment du QI.45 L'intelligence mesurée (par exemple, le QI) et la capacité langagière dans l'enfance tendent à prédire le résultat à l'âge adulte.46 Cependant, la qualité de vie rapportée chez les adultes atteints de TSA de haut niveau était davantage associée à la présence d'un soutien familial et communautaire qu'à leurs symptômes liés au TSA.47
Section 3: Dépistage et diagnostic
L'AAP recommande d'évaluer tous les enfants pour les symptômes de TSA grâce à une combinaison de surveillance du développement à toutes les visites et de tests standardisés spécifiques à l'autisme à 18 et 24 mois lors de leurs visites de soins primaires.5 5 parce que les enfants atteints de TSA peuvent s'identifier comme de jeunes enfants, et une intervention précoce peut influencer les résultats.48 Cet examen spécifique à l'autisme complète l'examen de développement général recommandé à 9, 18 et 30 mois.9 9 L'évaluation efficace de tous les enfants serait facilitée par l'inclusion d'outils d'évaluation valides dans le dossier de santé électronique avec une compensation adéquate pour le personnel et le temps professionnel nécessaire pour achever l'administration, la qualification et les conseils liés à l'évaluation.49
Les outils de dépistage sont conçus pour aider les soignants à identifier et à signaler les symptômes observés chez les enfants à haut risque de TSA. Les écrans sont basés sur les manifestations précoces des symptômes de déficits centraux liés à la communication sociale. Certains de ces symptômes précoces qui peuvent alerter le prestataire sur le risque de TSA ont été appelés «signaux rouges» (tableau 4).
La surveillance du développement des TSA comprend la question des soignants sur leurs préoccupations concernant le développement ou le comportement de leurs enfants, l'observation informelle et la surveillance des symptômes dans le contexte de la surveillance de santé de routine. "Apprenez les signes. Ressources pour les parents Act tôt" développé par le CDC peut aider à éduquer les familles sur les étapes du développement et du comportement (https://www.cdc.gov/ncbddd/actearly/index.html ) Le suivi du développement ne suffit pas à lui seul pour identifier les enfants qui ont besoin d'une évaluation plus poussée car les enfants atteints de TSA peuvent ne pas présenter de symptômes caractéristiques lors de courtes visites au bureau,50 et les soignants ne peuvent pas offrir volontairement des préoccupations sociales et émotionnelles, sauf demande spécifique. L'utilisation d'un outil de dépistage standardisé des TSA peut aider les familles à identifier les symptômes possibles. Dans une grande étude qui a évalué le dépistage universel avec la liste de contrôle modifiée pour l'autisme chez les jeunes enfants (M-CHAT), les chercheurs ont demandé aux médecins de noter s'ils étaient préoccupés par le TSA. La sensibilité de l'inquiétude clinique du médecin était faible (0,244; 30 cas sur 123; intervalle de confiance à 95%: 0,17-0,32). La sensibilité du M-CHAT lorsqu'il était utilisé comme indiqué dans cette population à faible risque était de 0,91.51 Une identification précoce précise est un objectif de l'AAP depuis la publication des 2 précédents rapports cliniques sur l'autisme en 2007, avec une formation médicale continue ciblée et une boîte à outils (AAP Autism Toolkit: https: //toolkits.solutions.aap. org / toolkits .aspx). L'objectif de la détection universelle, y compris la détection des TSA, a été soutenu par les agences de santé publique52 et les organisations de soutien aux familles.53 Les taux de détection des retards de développement et des TSA dans les soins pédiatriques primaires ont régulièrement augmenté. Dans l'enquête AAP de 2020 sur les pratiques de dépistage, près des trois quarts des pédiatres qui ont répondu ont signalé une détection systématique des TSA.54 Les pédiatres rapportent de plus en plus qu'il inclut du personnel de bureau pour un flux de travail efficace, y compris l'administration et la qualification des tests de dépistage. Bien que le temps et la rémunération restent une préoccupation, moins de pédiatres les qualifient d'obstacles. L'orientation et le suivi de l'évaluation et des services restent un défi associé au manque de systèmes de bureau pour effectuer les aiguillages et après des résultats positifs à l'écran.43
Les auteurs du rapport de surveillance clinique et de détection AAP 2019 discutent des stratégies pour facturer la détection et le conseil en soins primaires.49 Les sections suivantes décrivent les outils couramment utilisés pour détecter et diagnostiquer les TSA et soulignent l'importance d'une surveillance continue, en particulier chez les enfants à haut risque.
Afficher à l'écran
Les résultats d'un test de dépistage ne sont pas diagnostiques; Ils aident le fournisseur de soins primaires à identifier les enfants à risque de diagnostic de TSA et nécessitent une évaluation plus approfondie. Les outils généraux de détection du développement utilisés pour la détection à 9, 18 et 30 mois identifient les retards linguistiques, cognitifs et moteurs, mais peuvent ne pas être sensibles aux symptômes sociaux associés à l'identification des TSA.43,55 Cette limitation associée à la détection générale du développement est la raison pour laquelle des outils ASD spécifiques56 ils sont nécessaires pour saisir les différences d'interaction sociale, de jeu et de comportements répétitifs. Consulter le rapport clinique AAP "Promotion du développement optimal: identification des nourrissons et jeunes enfants atteints de troubles du développement par la surveillance et la détection du développement"49Tableau 1 (tests de dépistage du développement; description des tests généraux d'évaluation du développement et du comportement) et tableau 5 du présent rapport pour des ressources et des conseils sur l'évaluation du développement.
Les questionnaires remplis par les parents sont les tests de dépistage les plus couramment utilisés en soins primaires. Le tableau 6 résume les outils de détection spécifiques à l'autisme qui sont couramment utilisés sur la base de questionnaires et d'observations. De nombreux tests de dépistage administrés par un médecin nécessitent une formation spécifique (par exemple, l'outil de dépistage de l'autisme pour les jeunes enfants et les jeunes enfants (STAT)).5,57 Un test administré par un médecin tel que STAT augmente la probabilité d'un diagnostic de TSA dans des tests supplémentaires et peut être utilisé pour soutenir un diagnostic préliminaire de TSA pour les services.58 L'identification des nourrissons et des jeunes enfants à risque de TSA sur la base de fabricants neurophysiologiques ou d'autres biomarqueurs est discutée dans la sous-section La biologie des TSA à la section 4: Évaluation étiologique.
Dépistage par tranche d'âge
Enfants de moins de 18 mois
Un diagnostic précoce du TSA peut conduire à un traitement plus précoce. M-CHAT est l'outil le plus étudié et le plus utilisé pour évaluer les jeunes enfants pour le TSA. Des outils supplémentaires sont à l'étude et sont répertoriés dans le tableau 6 comme des tests de dépistage de l'autisme prometteurs. Le retard de langage peut être identifié en utilisant la liste de contrôle pour les nourrissons et les jeunes enfants (questionnaire des parents) chez les nourrissons à faible risque et les jeunes enfants âgés de 12 à 18 mois.43,59 Ce questionnaire pourrait être utile pour identifier les jeunes frères et sœurs d'enfants atteints de TSA qui présentent un risque plus élevé de TSA. Des recherches supplémentaires peuvent permettre la détection de jeunes enfants jusqu'à 12 mois grâce à l'utilisation de questionnaires administrés par les parents, tels que le Profil de développement des échelles de communication et des comportements symboliques et la Liste de contrôle pour les nourrissons et les jeunes enfants.58
Les prestataires de soins primaires ont pour tâche d'identifier tous les enfants qui bénéficieraient d'une intervention précoce, pas seulement les enfants à risque de TSA (voir le rapport clinique AAP "Promotion du développement optimal: identification des bébés et des enfants) les enfants atteints de troubles du développement grâce à la surveillance et à la détection du développement "49 pour plus d'informations). Il est important d'identifier tous les retards cliniquement significatifs chez les enfants avec référence pour une évaluation diagnostique et une intervention appropriées. Les problèmes de sommeil, de nourriture, de constipation et de régulation de l'État sont courants dans la population générale, mais ils peuvent être particulièrement difficiles chez les jeunes enfants atteints de TSA. Les pédiatres peuvent aider les familles à gérer ces symptômes.
Enfants de 18 à 30 mois
L'outil de détection par questionnaire le plus utilisé est le M-CHAT. Il a été validé et le score a été modifié pour faciliter l'administration dans les établissements de soins primaires pour les enfants âgés de 16 à 30 mois.51 La liste de contrôle modifiée pour l'autisme chez les jeunes enfants, révisée avec suivi (questions) (M-CHAT-R / F) supprime 3 questions de la version précédente. Les enfants dont le score est ≥ 8 présentent un risque élevé de TSA ou d'autres troubles du développement et doivent être référés immédiatement pour une évaluation diagnostique. Pour les enfants avec des scores de 3 à 7, des questions d'entrevue de suivi de script accessibles au public sont requises pour les éléments notés positifs. Les enfants qui continuent d'avoir de 3 à 7 éléments positifs pour le diagnostic de TSA après avoir clarifié les questions de suivi ont un risque de 47% de recevoir un diagnostic de TSA et 95% de chances d'être identifiés avec un autre retard dans le développement qui bénéficierait de l’intervention. Les enfants examinés avec le M-CHAT-R / F sont identifiés avec un TSA à un âge plus précoce que prévu par les statistiques nationales.49 Los niños que no pasan las pruebas de detección de ASD o que califican como en riesgo de diagnóstico deben ser referidos tanto para la evaluación diagnóstica como para los servicios de intervención. No es necesario un diagnóstico definitivo para instituir servicios por demoras documentadas que se atenderían mediante intervención temprana o servicios escolares. Aunque el M-CHAT-R / F parece ser útil para la detección general de diversas poblaciones,60 60 Disminuir la disparidad en el diagnóstico precoz requerirá adaptar y validar las medidas y abordar las barreras culturales y lingüísticas para el cribado.61
Las medidas en desarrollo pueden proporcionar una detección rápida al tiempo que abordan las preocupaciones de los médicos sobre la compatibilidad con un sistema de registro electrónico y acceso abierto.62 Las adaptaciones adicionales de la Escala de Comportamiento Simbólico de la Comunicación para su uso en la detección de retrasos en el lenguaje además del TEA tienen el potencial de identificar a los niños en riesgo de ambos trastornos (comunicación funcional; edades de 6 a 24 meses).49,59 El uso de esta u otras herramientas de detección puede combinarse con el soporte en línea de un glosario de síntomas de TEA, como el que se encuentra en el Navegador de autismo (http://www.autismnavigator.com/). Estos y otros enfoques en línea para apoyar las estrategias de detección pueden integrarse en patrones eficientes de práctica. Los resultados de los exámenes de detección realizados en línea, en entornos comunitarios y en centros preescolares deben comunicarse al proveedor de atención primaria para garantizar una evaluación adecuada de la etiología, las condiciones concurrentes, la derivación para el diagnóstico y el seguimiento para garantizar que se acceda a la intervención.49
Una revisión sistemática realizada por el Equipo de Trabajo de Servicios Preventivos de EE. UU. (USPSTF) concluyó que la literatura sobre las herramientas de detección existentes no demostraba suficiente especificidad para justificar la detección universal.63 El USPSTF señaló que ningún estudio ha examinado directamente si los niños con TEA detectados por detección temprana tienen mejores resultados que los detectados por otros medios. Sin embargo, dicho estudio requeriría la asignación aleatoria de grandes muestras representativas de todo el país a una condición de detección o no detección, con un seguimiento de los resultados a largo plazo y los costos sociales. Dado que el tratamiento temprano de niños menores de 36 meses ha demostrado resultados positivos,43,64 Tal estudio sería difícil de apoyar. El USPSTF concluyó que se recomienda realizar más investigaciones para evaluar las edades y poblaciones apropiadas de niños que deberían someterse a pruebas de detección de ASD y que se deberían desarrollar medidas más precisas y culturalmente sensibles. La AAP continúa recomendando la detección utilizando las medidas actuales más válidas a los 18 y 24 meses de edad. Los pediatras no pueden suponer que los sistemas de intervención temprana evaluarán a los participantes que reciben servicios de lenguaje o retrasos globales para TEA en las edades recomendadas. Se recomienda el cribado universal porque los síntomas de ASD pueden identificarse en la primera infancia, y el diagnóstico de ASD por profesionales capacitados es preciso en niños de hasta 18 meses de edad.sesenta y cinco La estabilidad diagnóstica es alta para los niños diagnosticados con TEA entre los 18 y 36 meses de edad.43 La detección temprana no identifica a muchos niños con síntomas más leves y capacidad cognitiva típica como en riesgo de TEA; por lo tanto, la vigilancia continua sigue siendo necesaria.seize La participación en la intervención temprana en general es mayor entre los niños que tuvieron pruebas de detección y vigilancia.66
Niños mayores de 30 meses
En la actualidad, para niños mayores de 30 meses, no hay herramientas de detección validadas disponibles para su uso en la práctica pediátrica, ni hay recomendaciones actuales de la AAP para la detección universal de TEA en ese grupo de edad. El Cuestionario de comunicación social (SCQ) (ver Tabla 6) se ha estudiado en diferentes poblaciones (por ejemplo, muestra clínica, muestra de referencia de población, muestra comunitaria y muestra de conveniencia), con los mejores resultados en muestras de población.67 cuando se usa la versión de por vida, y parece tener propiedades psicométricas razonables. Sin embargo, los cuestionarios como el SCQ pueden identificar síntomas que se superponen con otras afecciones, como el TDAH, que afectan la función en la edad escolar.68,69 Se necesita una validación adicional de las herramientas de detección basadas en la población para niños mayores de 30 meses antes de que se puedan hacer recomendaciones para la detección universal de niños en edad escolar. En este momento, se recomienda la vigilancia continua en el contexto de la atención primaria.
Barreras para identificar el riesgo de TEA
Los niños con síntomas más leves y / o inteligencia promedio o superior al promedio pueden no identificarse con síntomas hasta la edad escolar, cuando las diferencias en el lenguaje social o las rigideces personales afectan la función. Some children who are later diagnosed with ASD are initially believed to have precocious language, reading, or math skills, and it is not until the social demands of school that the social language symptoms become problematic. It has also been suggested that girls may have lesser intensity of symptoms and fewer externalizing behaviors. These differences may, in part, result in underdiagnosis in girls.70 Specific coexisting conditions may prevent clinicians from recognizing symptoms of ASD in early childhood. For example, 1 study revealed that children who were initially identified with ADHD in primary care were diagnosed with ASD 3 years later compared with children who did not have earlier symptoms of ADHD.69 Recognition and referral for older children with social-skill deficits would be facilitated by the development of accurate and brief screening tests for use in primary care and school settings.
Population surveillance data reveal later age at diagnosis for African American and Hispanic children, suggesting that there are barriers to screening and surveillance and referral for diagnosis in groups with other unmet health needs.2 Race, ethnicity, and socioeconomic status did not affect the accuracy of routine screening tests for ASD in low-risk toddlers, suggesting that screening with appropriate supports for follow-up care can lower the age at diagnosis in diverse populations.60 Language barriers, inaccurate translations, and low parental literacy may compromise use of parent-completed questionnaires.71 Limited understanding of cultural differences experienced by the patient’s family and lack of trust in the health care provider may further limit identification and reporting of symptoms of autism.72 Screening tools need to be developed for populations of individuals whose primary language is not English and who are also sensitive to cultural barriers that may limit reporting of symptoms of ASD.73
Once a child is determined to be at risk for a diagnosis of ASD, either by screening or surveillance, a timely referral for clinical diagnostic evaluation and early intervention or school services, depending on his or her age, is indicated.74 Children with developmental delay with or without an ASD diagnosis should be referred to early intervention or school services, in which cognitive and language testing may be completed. The primary care provider should discuss with the family the importance of both the assessment of developmental status and evaluation for an ASD diagnosis and assist the family in navigating through the process, including connecting them with community resources. Families with low income or language barriers may need additional attention to take the next steps.
Although most children will need to see a specialist, such as a developmental-behavioral or neurodevelopmental pediatrician, psychologist, neurologist, or psychiatrist, for a diagnostic evaluation, general pediatricians and child psychologists comfortable with application of the DSM-5 criteria can make an initial clinical diagnosis. Having a clinical diagnosis may facilitate initiation of services. At this time, there are no laboratory tests that can be used to make a diagnosis of ASD, so careful review of the child’s behavioral history and direct observation of symptoms are necessary.75,76 To meet diagnostic criteria, the symptoms must impair function. Formal assessment of language, cognitive, and adaptive abilities and sensory status is an important component of the diagnostic process.
Short clinical visits may not allow even a skilled clinician the opportunity to accurately recognize symptoms of ASD.50 An accurate history needs to reflect a longitudinal experience with the individual and reflect the effects of symptoms on the patient’s ability to function in family, peer, and school settings. This history is obtained by interview with the patient and caregivers, reports of behavior in other environments (such as school), and descriptions of behavior during formal testing. The history of symptoms of ASD can be supported by questionnaires such as the SCQ77 or Social Responsiveness Scale (SRS).78 None of these questionnaires is sufficient alone to make a diagnosis of ASD, but all provide a structured approach to elicit symptoms of ASD. Measures such as the Behavior Assessment System for Children,79 Diagnostic Interview for Social and Communication Disorders (DISCO),80,81 and the Child Behavior Checklist82 are used to assess children and youth for other behavioral health conditions but may also identify behavioral profiles consistent with ASD.
In some clinical and research settings, the behaviors associated with ASD are reported through the Autism Diagnostic Inventory-Revised (ADI-R), a lengthy, semistructured parent interview.83,84 It supports a knowledgeable clinician in applying diagnostic criteria of ASD. The SCQ was designed to elicit similar information to the ADI-R in an abbreviated questionnaire format. The SRS is a 65-item questionnaire that may be used to measure autistic traits on a continuum as part of a more complete evaluation of ASD.78,85 Elevated scores may be seen with greater severity of symptoms of ASD as well as with intellectual disability, communication difficulties, and behavioral challenges.
Structured observation of symptoms of ASD during clinical evaluation is helpful to inform the diagnostic application of the DSM-5 criteria. Validated observation tools used to provide structured data to confirm the diagnosis include the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) and the Childhood Autism Rating Scale, Second Edition (CARS-2).86 No single observation tool is appropriate for all clinical settings. The observation tool is meant to support application of the DSM-5 criteria informed by history and other data.
The ADOS-2 was developed to elicit atypical social language and behaviors. With the ADOS-2, modules are specific for use across the age span of toddlers to adults.87,88 The ADOS-2 requires intensive training to accurately administer and score and takes 30 to 45 minutes to administer. It is often a component of both research and clinical evaluations. The information obtained from the ADOS-2 is used by the clinician in conjunction with the history of peer interactions, social relationships, and functional impairment from symptoms to determine if the DSM-5 criteria are met. The CARS-2 is another structured approach a clinician might use to support a clinical diagnosis of ASD.89 The clinician completes a 15-point scale that is based on history and observation. The ADOS-2, CARS-2, and SRS (Parent and Teacher) all rate children similarly in approximately half of identified cases.90 The integration of historical information and objective observation by a clinician trained to diagnose autism and related conditions to inform the DSM-5 diagnostic criteria is the critical element to diagnostic evaluation.
Evaluation of Co-occurring Developmental Conditions
Patients with ASD may have intellectual disabilities, learning disabilities, ADHD, anxiety disorders, or speech and language disorders, among others. These conditions may influence the presentation of the symptoms of ASD. These conditions may influence the presentation of symptoms of ASD and may influence the social and functional impairment of the individual in different ways at different ages. Valid assessment of cognitive and language ability is an important component of the diagnostic evaluation. In the United States, early intervention services and school systems will evaluate children in these domains to assess educational needs. In some areas, initial evaluations are performed in clinical settings and paid for by insurance.
A range of standardized measures are used to determine developmental levels of younger children and IQ in children older than 3 years. The intelligence test selected by the psychologist will depend on the age and language level of the child. Administration of a valid cognitive test is important in ascribing symptoms to ASD as part of the initial diagnosis but also helps to establish co-occurring diagnoses with ASD, such as intellectual disability. There are valid tests that can be used in children who are nonverbal. Although the prevalence of a diagnosis of ASD is increased in children with an intellectual disability,91 91 other children diagnosed with intellectual disability may have some symptoms of ASD without meeting diagnostic criteria for the disorder.
Inherent in the core symptoms of ASD are differences in the use of verbal and nonverbal communication for social interaction. Formal assessment of communication by a speech or language pathologist at the time of diagnosis should include the documentation of expressive and receptive language skills as well as the pragmatic or conversational use of language.92
Adaptive Function Testing
A caregiver report and/or teacher report of adaptive functioning complements objective cognitive testing. Determining the extent that ASD affects daily function is necessary to establish eligibility for some publicly funded programs as well as to identify and monitor developmental goals for treatment. Adaptive behaviors are typically delayed in people who have intellectual disability with ASD but can be impaired in people with ASD and an average-range IQ.93,94 Commonly used adaptive measures include the Vineland Adaptive Behavior Scales and the Adaptive Behavior Assessment System.95
Children with ASD are more likely to have mild delays in gross motor skills and coordination compared with children in the general population and may meet DSM-5 criteria for developmental coordination disorder in addition to ASD.96 General screening tests or adaptive measures may suggest motor delays that would benefit from formal evaluation by an occupational or physical therapist. A relationship of early motor delays and subsequent language and adaptive development in children with ASD has been proposed.97,98
Sensory Assessment: Hearing
Children with language delay or inattention to language should have an evaluation of their hearing as part of their initial evaluation.99 Hearing loss may co-occur with ASD and needs to be considered in children with language delays, behavior problems, or inattention. Appropriate amplification should be offered, if indicated. The clinical utility of auditory processing evaluations available in current practice remain an area of study.100,101
Sensory Assessment: Vision
Visual function should be considered in the initial evaluation of children who are visually inattentive, have stereotypical behaviors (such as eye poking or close visual scrutiny), or do not make eye contact. Decreased visual acuity may affect interactive gaze and require accommodations in the educational setting.102 Children with visual impairment may also demonstrate stereotyped motor behaviors.
Sensory Assessment: Sensory Processing
The DSM-5 includes sensory symptoms in the diagnostic criteria for ASD. The DSM-5 does not include sensory processing disorder as a discrete diagnosis. Commonly used evaluation tools (such as the Short Sensory Profile and others) quantify parent perception of sensory differences relative to smell, taste, vision, hearing, and touch.103,104 In addition to capturing what is conventionally considered as a sensory disturbance, questionnaires that are used to assess sensory symptoms also capture motor hyperactivity and hypoactivity as sensory-seeking or sensory-avoiding behaviors. These latter symptoms may reflect co-occurring ADHD. Sensory symptoms may be more evident at younger ages and may define subtypes of the disorder.105,106
Section 4: Etiologic Evaluation
Children with a diagnosis of ASD should be assessed for potential etiology and common coexisting medical conditions. At the time of the 2007 AAP clinical reports on autism, karyotype and DNA testing for fragile X syndrome were the state-of-the-art etiologic investigations. Soon thereafter, chromosomal microarray (CMA) was endorsed by the American College of Medical Genetics and Genomics and the American Academy of Child and Adolescent Psychiatry as the most appropriate initial test for etiologic evaluation of children with ASD.76,107–110 Despite rapid technological advances in neuroimaging and other areas, many of the recommendations for clinical evaluation published in 2007 are unchanged. This section summarizes recent advances in understanding the etiologies of ASD and how they translate into recommendations for clinical practice.
Medical Workup of the Child With ASD
Advances such as the development of CMA and next-generation sequencing technologies and the application of these technologies to well-characterized patient cohorts have led to progress in the understanding of the complex genetics of ASD and other neurodevelopmental disorders in the last decade. Identifying a genetic etiology provides clinicians with more information for families about prognosis and recurrence risk and may help to identify and treat or prevent co-occurring medical conditions, guide patients and families to condition-specific resources and supports, and avoid ordering unnecessary tests (Table 7).111–117 Most parents find this information to be useful.118 As research progresses, genetic testing may contribute to identifying effective interventions related to specific etiologies.
Etiologic investigation begins with a careful medical, developmental-behavioral, and family history and a thorough physical and neurologic examination.109 The history should include potential prenatal exposure to teratogens (such as medications, alcohol, drugs) and other factors that increase risk for ASD.109,119 The physical examination should include assessment of growth relative to typical curves (including head circumference), dysmorphic features, organomegaly, skin manifestations of neurocutaneous disorders (eg, tuberous sclerosis and neurofibromatosis), and neurologic abnormalities.109 Genetic evaluation should be recommended and offered to all families as part of the etiologic workup. A stepwise general approach is provided in Table 8 as a practical guideline.110,120 The presence of dysmorphic features or intellectual disability is generally associated with increased likelihood of finding a genetic abnormality.121 However, authors of some clinical studies have identified similar yield for genetic testing in children without these risk factors.122,123
In some cases, individuals with clinical genetic syndromes, such as fragile X syndrome, tuberous sclerosis complex, and others (such as those described in Supplemental Table 13), also meet criteria for ASD.124,125 When a specific syndrome or metabolic disorder is suspected, the clinician should proceed with the appropriate targeted testing or referral to a pediatric geneticist or neurologist. For example, a girl with significant developmental delays, deceleration in head growth velocity, and characteristic midline hand movements should prompt genetic testing for a mutation or deletion or duplication of MECP2, the gene implicated in Rett syndrome.109,126 Another specific example would be a boy with ASD with marked macrocephaly and pigmented macules on the penis, findings that would warrant sequencing and deletion or duplication analysis of the PTEN gene.127 Descriptions of these and other clinical syndromes associated with ASD are provided in Supplemental Table 13.
CMA is recommended if the etiology for developmental disability is not known. CMA identifies copy number variants (CNVs) at this time, which are DNA duplications or deletions that alter the function of genes (Table 8, step 2). CMA reveals a definitively pathogenic CNV in 5.4% to 14% (median 9%) of individuals with ASD in clinical samples.121,128–135 When CNVs of uncertain significance are included, approximately 17% to 42% of patients with ASD have findings on the CMA. Some of the variants of uncertain significance may be determined as pathogenic in the future. The most commonly identified recurrent pathogenic CNVs among individuals with ASD are provided in Supplemental Table 14.
Because fragile X syndrome increases risk for ASD, DNA testing for fragile X syndrome should be recommended for all children with ASD, but especially for boys and children with a suggestive family history of male members with intellectual disability. Physical examination might reveal the common features of a large head size, prominent jaw, large ears, ligamentous laxity, and, in male patients, large testes after puberty. The cytosine-guanine-guanine trinucleotide repeat expansion that is responsible for fragile X syndrome is not detected on CMA and must be ordered as a separate test. The current estimate is that approximately 0.45% of individuals with ASD have the full mutation for fragile X syndrome, and many of them are female.130,132,135–137 Because fragile X syndrome testing is relatively inexpensive and the condition has important genetic counseling implications, it is reasonable to consider testing both male and female patients with ASD, at least until more data become available to clarify the issue.
When the history and physical examination, CMA, and fragile X analysis do not identify an etiology, the next step at this time in the etiologic evaluation for ASD is whole-exome sequencing (WES). WES technology allows for the identification of single-nucleotide variants, including pathogenic loss-of-function mutations and missense mutations, which have been found to be associated with ASD.138–142 Examples of ASD risk genes identified or confirmed in WES studies are provided in Supplemental Table 15. As with other tests, clinicians ordering this test should be familiar with both pretest counseling and interpretation of the results. A genetic counselor is helpful in explaining the reason for testing as well as the results. Large clinical WES studies have consistently been used to identify a molecular diagnosis in 26% to 29% of individuals for whom neurodevelopmental disorders were the primary indication for testing.143–145 Authors of studies of clinical populations with ASD have reported diagnostic yields of 8% to 20%.121,144 The yield of WES is higher when both the parents and the child who is affected are evaluated144 to allow for comparison of the child with parents who are unaffected.
Some geographic areas may have limited availability of pediatric subspecialists (eg, in genetics or metabolism) who can guide the genetic workup, so primary care providers may be in the position to consider and direct etiologic evaluation. The complexity of genetic testing is such that most primary care providers may want to consult with a specialist to plan testing and interpret results. The clinical etiologic evaluation should be tailored to the individual patient, taking into consideration information from the history and physical examination109,110 and the values and wishes of the family. The stepwise general approach summarized in Table 8 can be used to guide this process.
It is important for families to understand that genetic tests may explain the cause of their child’s ASD or provide information about the statistical risk of ASD, but they are not diagnostic of ASD; the diagnosis of ASD is made on the basis of clinical symptoms. Unlike CMA and WES, commercially marketed tests may not have the potential to provide a molecular etiologic diagnosis. Genomic testing technology is evolving rapidly, as is our understanding of the genetic architecture of ASD, and these recommendations for testing will need to be updated as new studies are published.146 For example, it is anticipated that CMA and WES will soon be combined because of improvements in accurate identification of CNVs using sequence data and that sequencing of the exome will be replaced by sequencing of the entire genome as issues with interpretation and cost become more manageable.121,130,147–150
Parents of a child with ASD should be counseled regarding recurrence risk in subsequent offspring, and the nature of the counseling depends greatly on whether a specific genetic cause of the child’s ASD has been identified. When a specific genetic etiology has been determined, the family can be provided with information about the risk of recurrence in subsequent offspring. However, when genetic testing has not been completed or has not revealed the etiology of the child’s ASD, recurrence risk counseling is based on group averages derived from the existing literature. For a couple with 1 child with ASD of unknown cause, the current best estimate of recurrence in a subsequent child is approximately 10% (range 4%–14%151–153) If a couple already has ≥2 children with ASD of unknown etiology (idiopathic), the chance of a subsequent child having ASD may be as high as 32% to 36%.151,154 However, the risk is not limited to ASD. Siblings of children with ASD who do not have ASD themselves may have a 20% to 25% risk for language disorders and other neurodevelopmental and psychiatric disorders.152,155,156
Specific clinical neuroimaging findings are not more prevalent in ASD compared with other neurodevelopmental disorders, nor do specific abnormalities correlate with clinical, etiologic, or pathophysiological aspects of ASD.120,157,158 Incidental findings are common in neuroimaging studies obtained in the workup of children diagnosed with ASD but rarely provide etiologic information or require intervention.159,160 The need for clinical MRI should be directed by a history and physical examination. MRI may be indicated in the evaluation of atypical regression, microcephaly, macrocephaly, seizures, intracranial manifestations of genetic disorders, abnormal neurologic examination, or other clinical indications.76,109,161,162 Imaging technology used to examine brain structure and function provides valuable insight into the neurobiology of ASD in research settings and may lead to useful clinical applications in the future.
The yield of routine metabolic testing for children with ASD is low and not recommended for regular use.163–167 However, large population-based studies are lacking, so accurate prevalence and diagnostic yield estimates are not available. Metabolic workup should be informed by history, family history, symptoms, and examination and might include measurement of fasting plasma amino acid levels, urine organic acid levels, and acylcarnitine metabolite levels and other testing for specific metabolic disorders. History of atypical regressions (later than 2 years of age, motor regression, or multiple regressions), family history of early childhood death or diagnosed metabolic disorders, and physical features, such as significant hypotonia or weakness, visual and hearing impairment, and dysmorphic features, would suggest consultation with a specialist to guide evaluation for metabolic or mitochondrial disorders.109,168 Children who present with motor delay should be evaluated with creatine kinase and thyroid-stimulating hormone testing, according to AAP recommendations.9,49 Although metabolic disorders are uncommon causes of ASD, the potential impact is high because treatment may be available and the inheritance pattern may be known.109,124 Examples of metabolic conditions that may be associated with an ASD phenotype are provided in Supplemental Table 16. There is no evidence at this time for routine testing of hair, blood, or urine for environmental toxins or heavy metals outside of laboratory screening for lead exposure.169
Children with ASD have an increased risk for seizures, and EEG abnormalities are common in the absence of clinical seizures (see Seizures section for more information).170–175 However, EEG is not recommended as a routine baseline evaluation in the absence of clinical concern about seizures, atypical regression, or other neurologic symptoms on history or examination that would suggest an EEG is indicated.161,170,172,176 Late or atypical loss of language, as might be observed in electrical status epilepticus of sleep with loss of language, should be evaluated with an overnight EEG.161,170,172,176 Primary care clinicians should discuss the increased risk and the signs and symptoms of seizures with the families of children diagnosed with ASD, maintain a high index of clinical suspicion for seizures, and consult with a pediatric neurologist when concerned about atypical regression or the possibility of seizures.170,172,176
The Biology of ASD
Genetics and ASD
ASD is clinically and etiologically heterogeneous yet highly heritable. The rate of ASD in siblings is much higher than the rate in the general population. Twin studies demonstrate substantially higher concordance rates for symptoms of ASD in monozygotic twins than in dizygotic twins.177 A meta-analysis involving 6413 twin pairs revealed a 98% concordance in monozygotic twins, a 53% to 67% concordance in dizygotic twins, and heritability estimates from 64% to 91%.177,178 Siblings may also be at risk for symptoms related to ASD that do not meet the threshold for a diagnosis of ASD and have been described as the broader autism phenotype.141,179 These data provide strong evidence for a genetic contribution to ASD risk.180–184
Risk for ASD also is increased in the children of both older fathers and older mothers.185–187 The increased risk with parental age may be related to germline mutations in older fathers.143,188 Mechanisms mediating the effect of advancing maternal age on ASD risk are less clear.143 Increased maternal and paternal age are independently associated with ASD risk, and a joint effect seems to occur as well.185–187
Important aspects of the genetics of ASD are still poorly understood, including the role of common variants, epistasis (gene-gene interactions), and environmental modification of genotype effects. In contrast, advances such as CMA and next-generation sequencing technologies have resulted in identification of large-effect (pathogenic) rare variants that appear to be causally associated with ASD, including CNVs, which are deletions or duplications ≥1000 bp in size that alter the dosage of genes, and sequence-nucleotide variants.189–192 Pathogenic rare variants may arise de novo or be inherited as autosomal dominant, autosomal recessive, or X-linked mutations. Researchers of CMA and WES studies have established that although de novo and inherited rare variants of large effect size are collectively common, no individual pathogenic variant accounts for more than 1% of cases of ASD.* Genes that contribute to ASD are involved in a variety of biological functions, with convergence on aspects of brain development and function, including synaptic structure and function, intracellular signaling, transcription regulation, and chromatin remodeling.139,190,191,196 It is important to note that no specific mutation has been identified that is unique to ASD; there is substantial genetic overlap between ASD and other neurodevelopmental disorders, including intellectual disability, epilepsy, and schizophrenia.197–204
Genes, Environmental Exposures, and ASD
The potential environmental factors that may be related to increased reported prevalence of ASD is an area of active study that, as yet, is without firm conclusions.119 Environmental factors associated with ASD include in utero exposure to medications such as valproate and thalidomide. Other prenatal influences, such as short interpregnancy interval, multiple gestation, maternal obesity, gestational bleeding, gestational diabetes, advanced parental age, and infections (eg, rubella and cytomegalovirus), may be associated with increased risk for ASD.205–209 Perinatal factors, such as preterm birth, low birth weight, fetal growth restriction (ie, small for gestational age), intrapartum hypoxia, and neonatal encephalopathy, are associated with increased ASD risk.205,210–212 Environmental factors may present independent risk to prenatal brain development or may affect gene function in individuals with genetic predisposition.213 Population-level associations with ASD have been examined for organophosphates and certain other pesticides, metals, volatile organic compounds, and air pollution, particularly particulate matter and nitrogen dioxide.214–216 Research on environmental exposures may be of great importance in identifying modifiable risk factors related to ASD and other developmental disorders. It is prudent to limit exposure of children and pregnant women to known neurotoxicants.
Genes, Immunologic Exposures, and ASD
It has been proposed that children with ASD-associated CNVs may be more susceptible to environmental insult in the form of maternal immune activation. Report of maternal infection or fever during pregnancy may be associated with increased severity of ASD-related symptoms in offspring who are affected.217 The pathogenic role of circulating maternal antibodies directed to fetal brain tissue and the potential value of maternal antibody panels as biomarkers of ASD are currently being studied.218–222 Unless otherwise indicated (eg, history suggestive of autoimmune or immunologic disorder), no immune testing is recommended in the etiologic workup of a child with ASD.
Epigenetic modifications, such as DNA methylation and posttranslational histone modification, produce heritable changes in gene expression that do not involve a change in the DNA sequence. Some genetic disorders associated with ASD (eg, Rett syndrome; CHARGE syndrome; 15q duplication; Angelman syndrome; and fragile X syndrome), involve genes that either encode epigenetic regulators or are sensitive to alterations in their epigenetic regulation.223,224 Because epigenetic modifications can be influenced by environmental factors, such as prenatal maternal exposures and postnatal experience, they represent 1 interface between genes and environment. However, epigenetic modifications are not the only mechanisms by which gene expression is regulated, and epigenetics should not be conflated with the broader category of environmental effects.223,225 Currently, the evidence that alteration of gene expression by environmental factors plays a causal role in ASD is very limited.223–228 Investigation of the role of epigenetic and other nongenetic modifications that alter gene activity without changing the DNA sequence is an active area of etiologic research in ASD.
The scientific literature does not support an association of vaccination as an environmental factor that increases the risk for ASD. Children with ASD should be vaccinated according to the recommended schedule. Epidemiological studies do not demonstrate any association of the measles-mumps-rubella vaccine, mercury exposure by thimerosal-containing vaccines, aluminum in vaccines, or increased level of immunologic exposure attributable to a larger number of vaccines (either given at 1 time or cumulatively) with ASD.214,229–246 Vaccines used for children in the United States have not contained thimerosal since 2001. The authors of a 2012 Cochrane review234 and a 2014 quantitative meta-analysis of pooled data from cohort studies involving 1 256 407 children and case-control studies involving 9920 children reviewed the scientific literature and came to this conclusion.231 Evidence implicating immunizations as a “second hit” conferring ASD risk in genetically susceptible subgroups is lacking. It has been shown that the measles-mumps-rubella vaccine is not associated with increased risk for ASD, even among children who are already at higher risk because of having an older sibling with ASD.229 Media coverage of vaccine issues may inflate the perception of uncertainty by equal coverage of vaccine proponents and opponents. The overwhelming weight of evidence supports vaccine safety.247 Communicating information about vaccine safety is a critical component of pediatric practice.248
Brain Structure and ASD: Neuropathology
Neuropathological research has been limited by the small number of postmortem brains available for study. Developmental brain abnormalities in people with ASD are reported in the cerebral neocortex; limbic system structures, including the hippocampal formation and amygdala; basal ganglia; thalamus; brainstem; and cerebellum. These brain abnormalities include dysplasia, altered neurogenesis, and abnormal neuronal migration.249–251 The vast majority of abnormalities described originate during prenatal brain development.249,251,252 Findings in the cerebral cortex may include focal disruption of neuronal migration, minicolumnar abnormalities, and variations in neuronal density.249,251,252 A decreased number of Purkinje cells in the cerebellum is 1 of the most consistently reported neuropathologic findings associated with ASD. Although it was initially thought to be of prenatal onset, evidence now indicates that this phenomenon is more likely to be an acquired process that occurs postnatally, potentially related to seizures, medications, and/or ischemia near the time of death or factors other than ASD.249 No uniform neuropathology has been identified in people with ASD.
Objectively measured biological characteristics, or biomarkers, of ASD could potentially be used to predict ASD risk, enhance screening, and permit presymptomatic detection. Their use could improve the reliability and validity of clinical diagnosis (identifying clinically meaningful subgroups that would allow for prediction of prognosis or treatment response), identify mechanisms for developing treatment, and confirm the need for a specific intervention.221,253–255
Early Brain Overgrowth
Cross-sectional and longitudinal studies suggest that as a group, children later diagnosed with ASD may have an average or below-average head circumference at birth, with an acceleration in brain growth before 2 years of age.256 This rapid brain growth leads to significantly above-average head circumferences and MRI brain volumes in toddlers, followed by a plateau in brain growth, with brain volumes in adolescence and adulthood similar to those of controls.257,258 Almost 16% of young children with ASD have a head circumference greater than the 97th percentile.258 A preliminary study suggested that infant siblings of children with ASD who exhibited a larger head circumference at 12 months and showed more slowing of head circumference growth from 12 to 24 months had an increased chance of demonstrating symptoms of ASD.259,260 Although this finding raises the possibility that patterns of brain growth might be used for early identification, the rate of head growth did not predict which infants developed ASD in the first 3 years of life in a large prospective study of high-risk infants.261 It is possible that a large head size is unrelated to ASD and/or may be part of general somatic overgrowth.262–265
Neuroimaging Patterns Associated With ASD in Research Studies
Although there are conflicting findings, structural MRI volumetric studies suggest that young children with ASD differ from controls in total brain volume, cortical gray and white matter volume (particularly frontal, temporal, and cingulate cortices), extraaxial cerebral spinal fluid volume, and amygdala volume.266–271 A research-level analysis also has identified asymmetries in multiple brain structures in people with ASD.272 Diffusion tensor imaging has been used to identify altered patterns in white matter by 6 months of age in infants later diagnosed with ASD.270,273 Functional MRI has demonstrated differences in people with ASD relative to controls in efficiency of visual processing, executive function, language, and basic and complex social processing skills.274,275 Functional MRI in research settings demonstrate differences in the mechanisms of attention to social stimuli, modulation in response to task demands or intensity of stimuli, and executive function in people with ASD.274 Functional underconnectivity has also been demonstrated across a wide variety of the brain regions that support language, executive function, social cognition, emotion processing, and motor tasks, especially for long-range, frontal-posterior networks.274,276,277
Electrophysiologic Testing and Measurement of Eye Tracking
Electrophysiologic research studies demonstrate differences in auditory processing (including language processing), visual processing (including face processing), somatosensory response, multisensory integration, attentional shifting, selective attention, recognition memory, and neural connectivity in people with ASD.278–281 Continuous measures of resting-state and task-related quantitative EEG are used to calculate and describe spectral power, complexity, and coherence. Although promising, the clinical utility of these measures as biomarkers requires additional study.279 Eye tracking has been used to determine if infants who are younger siblings of children with ASD and, therefore, at increased risk for ASD exhibit differences in fixation on faces.282-284 Preliminary evidence suggests that infants later diagnosed with ASD exhibit a decline in gaze fixation from age 2 to age 6 months.285
Other Potential Biomarkers
Although some studies have attempted to differentiate people with and without ASD on the basis of differences in laboratory profiles of platelet serotonin, plasma melatonin, urine melatonin sulfate, redox status, placental trophoblast inclusions, and immune function, currently no diagnostic laboratory tests have been approved for ASD.286,287 To date, none of these potential biomarkers under study has sufficient evidence to be recommended.
Biomarkers: Future Directions
Proposed biomarkers for ASD risk include genetic and biochemical findings in blood, urine, or brain tissue; placental pathology; maternal autoantibody profiles; structural and functional MRI patterns; electrophysiological test results on EEG, including event-related potentials; responses in eye tracking; and physical parameters such as head circumference growth trajectory. Although none of these proposed biomarkers has demonstrated sufficient predictive validity for clinical use at this time,221,253–255,288 the search for biomarkers is a major research focus. Biomarker research has important ethical issues,253 and concerns have appropriately been raised regarding premature translation of research data into commercially available tests marketed to patients and families.221,253,289,290 However, the capabilities to screen large numbers of bioactive compounds, examine the entire genome, and simultaneously analyze large data sets have accelerated research into the neurobiology of ASD and may result in the identification of valid biomarkers.221,255,291
Section 5: Interventions
The goals of treatment of children with ASD are to (1) minimize core deficits (social communication and interaction and restricted or repetitive behaviors and interests)1 and co-occurring associated impairments292-294; (2) maximize functional independence by facilitating learning and acquisition of adaptive skills; and (3) eliminate, minimize, or prevent problem behaviors that may interfere with functional skills.6,295,296 Treatments should be individualized, developmentally appropriate, and intensive, with performance data relevant to treatment goals to evaluate and adjust intervention.6,297 All interventions should be based on sound theoretical constructs, rigorous methodologies, and objective scientific evidence of effectiveness. Since the publication of the 2007 AAP clinical reports on autism, a substantial published literature has examined the effectiveness of interventions.48,295,297,298 Legal mandates in education law in the United States, which include the Individuals with Disabilities Education Improvement Act of 2004 (IDEA) (Public Law 108–446) and the No Child Left Behind Act of 2001 (Public Law 107–110) and its successor, the Every Student Succeeds Act of 2020 ( Public Law 114–95), require the use of practices supported by scientifically based research (IDEA and the No Child Left Behind Act of 2001) or evidence-based practices (Every Student Succeeds Act of 2020) (https://www.ed.gov/). Early intervention services under part C of IDEA provide for assessment and intervention for children younger than 3 years with developmental delays, including ASD.
Interventions for children with ASD are provided through educational practices, developmental therapies, and behavioral interventions. Treatment strategies may vary by the age and strengths and weaknesses of the child. For example, intervention for a toddler with a recent diagnosis of ASD may include behavioral and developmental approaches (individually or in the context of comprehensive approach) and, as he or she progresses, involvement in a specialized or typical preschool program. For older children, intervention is more likely to occur in educational settings, with integration of behavioral and developmental therapies to promote skill development. In addition to variation by age of the child, interventions differ in theoretical approach and scope (eg, focused and targeted or comprehensive), settings and/or modality of delivery (eg, individual versus group or classroom, delivered by a professional versus a trained parent, and school versus home setting), and targets of intervention.48,297 Interventions may be provided through public and/or not-for-profit agencies, schools, and early intervention services, and some may be paid for through insurance.299 Families should be involved in the selection of intervention approaches and remain an involved participant in subsequent educational and therapeutic decisions. There is regional variation in the availability of various types of therapy and providers that sometimes results in long waits for service, less-than-desired intensity, or inability to obtain a desired intervention altogether. By law, students with ASD should receive an appropriate educational program, although it may not include all of the components desired by the family. Advocacy is often necessary to obtain desired services through schools or through mechanisms paid for by insurance. It is noted that many of the interventions in common use do not have a strong evidence base. Some types of intervention may not be paid for by insurance.
Systematic reviews of the evidence base for treatment have been completed on early intensive intervention,44,300 medical treatments,301 behavioral interventions,294,298 and evidence-based practice guidelines.292,302 Wong et al295 described 2 categories of evidence-based interventions, the comprehensive treatment model (CTM) and focused interventions. These interventions may be provided in different settings (eg, the home, classroom, naturalistic environment, or community), by different providers (eg, developmental specialist, behavioral therapist, educator, or trained parent), individually or in group settings, and by using a set curriculum or guide.
The CTM uses a central conceptual framework to address a broad array of symptoms and is designed to address specific skill(s) or symptom(s). A CTM should be replicable, intense, and designed to address multiple therapeutic goals over a period of time. Provision of services may occur in individual instruction or class settings (specialized or inclusive), should include parents, and may involve technology-assisted intervention.303
Applied behavior analysis (ABA), developmental approaches, and/or naturalistic approaches may be used in CTMs.303 Examples of CTMs include early intensive behavioral intervention, Treatment and Education of Autistic and Related Communication-Handicapped Children (TEACCH), and the Early Start Denver Model (ESDM).295,303
Focused intervention practices are designed to address a single or limited range of skills, such as increasing social communication or learning a specific task, and may be delivered over a short period of time.295,297,303 Focused intervention practices may be behavioral, developmental, and/or educational. Focused interventions may be grounded in principles of ABA, in which specific skills are taught in a stepwise progression by using principles of reinforcement or developmental theory, in which the emerging skills inherent in neurobehavioral maturation are promoted. These interventions are provided in a structured setting by an adult, in naturalistic environments with peers, or as a component of a more comprehensive approach.295 Focused interventions may be effective for promoting skill development and communication.295,297,304,305
Pediatricians may be asked to advise families on therapy choices or write prescriptions for therapies.306 It is helpful for clinicians to have an understanding of intervention terminology and of the evidence base so they can effectively communicate the rationale for medically indicated treatment recommendations with families, educators, therapists, and other service providers as well as with insurance companies, health care administrators, funding agencies, and policy makers.295
This report describes various types of interventions provided for children and youth with ASD. Additional research is needed to evaluate the effectiveness of current approaches and develop interventions that address core deficits of ASD. At the time of diagnosis, parents of young preschool children may ask their provider to help them decide what type of intervention they should elect. Two common theoretical approaches to intervention for symptoms of ASD are ABA and developmental models.296–298,307 Although these approaches have important distinctions, they also have significant overlap, and interventions increasingly are incorporating aspects of both. There is considerable regional variation in the availability of various interventions. Table 9 describes common characteristics of empirically supported interventions.296,297,308,309
Approaches to Intervention
Most evidence-based treatment models are based on principles of ABA. ABA has been defined as “the process of systematically applying interventions based upon the principles of learning theory to improve socially significant behaviors to a meaningful degree, and to demonstrate that the interventions employed are responsible for the improvement in behavior.”310 The use of ABA methods to treat symptoms of ASD suggests that behaviors exhibited can be altered by programmatically reinforcing skills related to communication and other skill acquisition.311,312 Thus, ABA treatments may target development of new skills (eg, social engagement) and/or minimize behaviors (eg, aggression) that may interfere with a child’s progress.
ABA interventions vary from highly structured adult-directed approaches (eg, discrete trial training or instruction, verbal behavior applications, and others) to interventions in natural environments that may be child led and implemented in the context of play activities or daily routines and activities and are altered on the basis of the child’s skill development (eg, pivotal response training, reciprocal imitation training, and others).297,309,312,313 To determine what intervention is most appropriate, the behavioral clinician works with the family and child to determine which skills to target for development and maintenance and what goals are appropriate.
ABA programs are typically designed and supervised by professionals certified in behavior analysis. The majority of states at this time have licensure for board-certified behavior analysts with provisions for payment by insurance. ABA may be prescribed or recommended by a physician or licensed psychologist.
A comprehensive ABA approach for younger children, also known as early intensive behavioral intervention, is supported by a few randomized controlled trials (RCTs) and a substantial single-subject literature.297 When only RCTs are considered, few interventions have sufficient evidence to be endorsed either for children younger than 12 years298 or for adolescents.314
Children younger than 12 years receiving more hours per week of ABA were found to be more likely to achieve the individualized goals identified in their programs.315 In retrospective studies, more intense ABA therapy was associated with achieving optimal developmental outcomes.316 Given the heterogeneity of the ASD phenotype, the service needs of children, youth, and adults need to be individualized by using available clinical data.
In some instances, a behavioral intervention is needed to address acute serious problem behaviors that must be given priority, for example, because of safety issues.295 Whether a student is getting formal ABA under IDEA or not, a family can request that challenging behaviors be evaluated in the school setting by using behavioral principles through a functional behavioral assessment. The target symptoms to treat may then be divided into component parts that are addressed in a stepwise fashion (task analysis).313,317 Once the reasons for the behavior are understood, a behavior improvement plan may be implemented.
Developmental Relationship–Focused Interventions
Intervention for young children also may be derived from developmental theory, which is focused on the relationship between the caregiver’s level of responsiveness and the child’s development of social communication.296,318–320 Through interaction with others, children learn to communicate and regulate emotions and establish a foundation for increasingly complex thinking and social interaction. Therefore, developmental models designed to promote social development in children with ASD are focused on the relationship between the child with ASD and his or her caregiver through coaching to help increase responsiveness to the adult (ie, the interventionist or parent or caregiver) through imitating, expanding on, or joining into child-initiated play activities. This approach may address core symptoms of ASD, such as joint attention, imitation, and affective social engagement.296,297,321,322
Developmental models for intervention are focused on teaching adults to engage in nondirective interactive strategies to foster interaction and development of communication in the context of play. One such approach is known as DIRFloortime (The Developmental, Individual Differences, and Relationship-Based model). In 1 RCT comparing parent coaching using this approach to community intervention alone (norte = 112) in children ages 2 to 5 years, parents who were taught this approach were less directive, and their children were rated as more socially responsive, although IQ and language scores were no different between groups, and half of the children in the control group improved in their affective ratings.323 A similar approach is relationship development intervention,324 and more research is needed to evaluate efficacy and community use.
Naturalistic Developmental Behavioral Intervention
Naturalistic developmental behavioral interventions (NDBIs) incorporate elements of ABA and developmental principles, such as emphasis on developmentally based learning targets and foundational social learning skills, with delivery of interventions in the context of naturally occurring social activities within natural environments. They use child-initiated teaching episodes, naturally occurring opportunities for learning, and turn-taking interactions within play routines and implement ABA-based approaches to address measurable goals.296
The most extensively studied NDBI approach is the ESDM, which prepares children to learn in naturalistic environments.325 In a multisite trial of ESDM, early age at entry to therapy and more hours of total therapy were associated with improved outcome.326 Of note, the 48 children randomly assigned to ESDM or community treatment in the original trial were studied by using event-related potentials and spectral power on EEG while viewing faces as opposed to objects and were compared with typical controls on these tasks. This is an early demonstration of improvement on a neurophysiologic measure associated with improvement on a clinical measure of social behavior through an early intervention program.327
Common factors in combined developmental and behavioral approaches include use of principles of ABA to reinforce skill building; a systematic approach with a manual for training practitioners who would use the intervention in a standard fashion; individualized treatment goals for the child and means of measuring progress; child-initiated teaching, imitation, and modeling; and adult prompting that fades over time to promote independence.296 It may be difficult to advise parents on specific programs in community settings because the way the program is conducted may differ from the research settings.328 However, it is always accurate to describe the common characteristics of empirically supported interventions and recommend that families seek interventions that incorporate these features (Table 9).
Parent-Mediated Treatment or Parent Management Training
Increasing evidence reveals that focused interventions delivered by trained parents or other caregivers can be an important part of a therapeutic program.297,329–332 More RCTs have been published on parent-mediated therapies than on other nonpharmacologic interventions. What is sometimes called parent management training is divided into 2 categories: parent support and parent-mediated interventions. Parent support interventions, which are knowledge-focused and provide indirect benefit to the child, include care coordination and psychoeducation. Parent-mediated interventions, which are technique-focused and provide direct benefit to the child, may target core symptoms of ASD or other behaviors or skills and may be built on ABA approaches in natural settings.331 Training sessions for caregivers may be delivered in the home, clinic, school, or other community settings or remotely by telehealth.297,329–331,333–337 An RCT involving 86 toddlers and their primary caregivers demonstrated that 10 weeks of hands-on parent training in joint attention, symbolic play, engagement and regulation (an NDBI) was superior to a parent-only psychoeducational intervention for increasing joint engagement.338 A parent training approach may be used to promote compliance with instruction, social communication, and other identified goals of the caregiver, such as reducing maladaptive behaviors.331,339–342 Including parents in the intervention process is critically important.43,326,343
It is the expectation that school-aged children will be educated in classroom settings with supports for a broad effect on the symptoms of ASD and associated deficits. Educating students with ASD in the least restrictive environment typically requires an individualized program that is modified to meet the Individualized Education Program (IEP) goals set by the family, student, and school team. Some students who do not qualify for an IEP by educational criteria may be supported with accommodations through a Section 504 plan or with classroom-level accommodations. Many students with ASD are educated in inclusive classrooms with supports. Other school-aged children and youth benefit from disorder-specific approaches. Examples of classroom-based models include Learning Experiences and Alternative Programs for Preschoolers and their Parents (LEAP) and TEACCH.344
LEAP blends principles of ABA with special and general education teaching techniques for elementary-aged pupils in inclusive settings for teaching social interaction.344–346 An RCT of 294 preschool-aged children revealed that LEAP was associated with improvement in socialization, cognition, language, and challenging behavior and that LEAP was superior to a treatment-as-usual method.345
TEACCH class settings are visually organized to promote engagement and learning.344 The TEACCH approach to skill acquisition includes assessment-based curriculum development and an emphasis on structure, including predictable organization of activities and use of visual schedules, organization of the physical environment to optimize learning and avoid frustration (eg, by minimizing distractions and/or sensory dysregulation), and adaptation and organization of materials and tasks to promote independence from adult directions or prompts.344,347 Instruction is organized in a predictable fashion and uses visual schedules with promotion of independence in activities planned into the instruction.347 This approach is associated with a small, but measurable, benefit in perceptual, motor, verbal, and cognitive skills in students with ASD, with less measured effect on adaptive and motor function347 and challenging behaviors. Rigorous studies of educational interventions for students with ASD at school age and beyond are necessary to understand the effectiveness of different models.298
A comparison of the effects of LEAP and TEACCH classrooms with those of standard special education classes taught by teachers familiar with ASD revealed that the common features of these interventions may be responsible for improvements seen in all students. TEACCH was associated with more reported improvement in ASD severity for students who had greater cognitive delays. This finding may speak to the benefit of the environmental and behavioral supports.344 Research interventions may not be comparable with community-provided school programs. Future research is needed to address how best to provide evidence-based intervention in classroom settings.
Education in the Least Restrictive Educational Environment
Pediatricians have an important role in advocating for children and youth with special health care needs, including ASD, in the educational setting. Students have a right to a free and appropriate public education. Educational programs for school-aged children with ASD should promote language, academic, adaptive, and social skills development and prepare them for postsecondary education or employment.348 Most, but not all, students with ASD will have some individualization of their education under the guidance of an IEP determined by the school multidisciplinary team in conjunction with the family. Others may receive accommodation and/or environmental modifications under Section 504 of the Rehabilitation Act of 1973.349 A medical diagnosis of ASD alone does not automatically translate into eligibility for school-based services. Functional impairment that affects participation in the typical curriculum is required to qualify for supports in the educational setting and may lead to an IEP for the educational handicap of autism. Most youth with ASD and average-range intelligence will likely require academic intervention because of coexisting learning disabilities, executive function challenges, ADHD, motor processing deficits, the effects of their pragmatic language differences on reading and writing, and/or challenges in comprehension of spoken or written language.350 Attention to the needs of the individual student must be central to the IEP process. Social skills of students with ASD may benefit from students being in class and on the playground with peers with typical development.351,352 However, spending more than 75% of their time in an inclusive educational setting alone was not sufficient in transition-aged youth to increase rates of college attendance, high school graduation, or functional ratings.353 How to best support students with ASD in the least restricted environment requires further study.
Social Skills Instruction
Social skills deficits may present differently depending on language abilities, developmental level, and age. Examples of social skills deficits include the following:
challenges with entering, sustaining, and exiting interactions;
difficulty attending to, understanding, and using nonverbal and verbal social cues, such as eye contact, facial expressions, and gestures;
difficulty in understanding “unwritten” social rules of the environment;
not understanding the perspective of others;
struggling with negotiation, compromise, and conflict resolution; et
problems with interactive play or participation in leisure activities.
The importance of caregiver involvement in teaching social skills to preschool-aged children needs to be emphasized for families of young children with ASD. Reinforcing social interaction is central to the success of evidence-based ABA, developmental, and NDBI approaches.296,354 Teaching and coaching social interaction involves both behavioral therapy and speech and language therapy approaches.
School-aged children and adolescents with ASD, including those with typical academic skills, should have social skills support considered in their school and perhaps in other therapeutic settings if indicated.351,354–356 Although families identify the need to address social skill developments in settings outside of school, the success of these types of interventions is variable. Interventions may be divided into adult-mediated (skill building with the individual child), peer-mediated (skill building with the child and typically developing classmates), and mixed approaches. Child-directed social skills interventions are often delivered individually or in small groups with other children with similar needs. Therapy may be provided in behavioral health settings to complement the social skills interventions at school.
Interventions addressing social skills may increase the child’s knowledge of the cues for social behavior and teach strategies for social problem-solving. A popular method uses the social narrative to help a child define the social context of an anticipated or experienced situation, put it in perspective, and then develop statements on how it makes the child feel and on what to do in response to the event and feelings.357 This coached rehearsal strategy may be included within other programmatic approaches. Implementation may use a cognitive behavioral intervention strategy in which the child identifies feelings and thoughts and learns to substitute more socially appropriate alternatives.354 Video- and computer-based social skill interventions may extend access to intervention once an evidence base is established. A systematic review of RCTs of social skills training for children aged 6 to 21 years revealed that interventions improved social competence and friendship quality but did not result in differences in emotional recognition and social communication. Transfer of skills to other settings was inconsistent.356
Because child-mediated interventions taught separately from social settings have not had consistently beneficial effects, interventions have been developed for implementation in the social settings that include peers, such as the classroom and playground. These interventions demonstrate improved playground interaction between children with and without ASD and improved identification as friends by typical peers.351 Peer-mediated intervention for students with ASD have revealed improved social connectedness and reduced social isolation and provide evidence to support the use of these interventions in the classroom and playground. An evidence-based approach designed for group administration, the Program for the Education and Enrichment of Relational Skills, may improve both teacher-reported social functioning and adolescent-reported social cognition.358 Fewer studies are available to guide programs to promote social skills development for adults with ASD. However, the Program for the Education and Enrichment of Relational Skills group model has been demonstrated to improve social skills in young adults with ASD.359
Families should be counseled to include development of social skills with discrete goals and interventions in the IEP or educational plan as well as to be cognizant of potential opportunities to promote social interaction in the natural environment and in the context of other therapies.360 Implementing IEP goals across the day and generalizing specific skills to promote conversation and nonverbal communication, such as providing eye contact, directing facial expressions, and using appropriate gestures, is important, independent of age, and should involve both the caregivers and professionals. More information about IEPs in general can be found at http://www.wrightslaw.com/info/iep.index.htm.
Other Therapeutic Interventions
Speech and Language Interventions
Delayed language is an early concern for many children who are later diagnosed with ASD. The communication symptoms included in the DSM-5 criteria for ASD reflect core deficits in social communication and interaction, such as failure of back-and-forth communication, deficits in nonverbal communication (such as eye gaze and use of gesture), difficulty adjusting behavior to suit the social context, and restricted and repetitive behaviors leading to perseverative vocalization, echolalia, and preoccupation with restricted topics of interest. All children with ASD should have documentation of specific coexisting speech and language diagnoses so that appropriate intervention might be provided.
Speech-language therapy is the most commonly identified intervention provided for children with ASD.361 The strategies used by speech-language pathologists to reinforce sound repetition and word use in children with typical development are often initially used with young children with ASD. Such strategies include reinforcement of speech sounds and communicative acts, imitation of the sounds the child makes, and exaggerated imitation and slowed tempo.362 The literature offers the most support for approaches with preverbal children with ASD in which adult prompts are used for communication, prompt fading, and reinforcement of their own attempts at communication. Intervention in naturalistic settings and involvement of caregivers may help reinforce the initiation of communication and functional use of sounds, gestures, and words.
A significant minority (up to 30%) of individuals with ASD ultimately do not acquire verbal speech.363 Delayed onset of speech may be complicated by general delays in development (intellectual disabilities) or coexisting speech disorders, such as childhood apraxia of speech. Although using communicative spoken phrases before age 4 years is considered a good prognostic sign for language development in youth with ASD, emergence of phrase speech may occur to at least age 10 years, especially in children with preserved nonverbal skills and evidence of social engagement.364
When children do not spontaneously speak, augmentative and alternative communication (AAC) may be introduced. Examples of AAC strategies include sign language, the Picture Exchange Communication System, and speech-generating devices.365,366 The use of AAC may help promote social interaction and understanding of the purpose of communication and does not delay onset of speech. Indeed, it may enhance emergence of spoken words by pairing nonverbal and verbal communication.
The Picture Exchange Communication System is used to build communication through picture identification and exchange as communication. With training, pictures can be sequenced to build on communicaiton.367 Picture strips that sequentially explain medical procedures, for example, take advantage of this approach. Use of speech-generating devices and programs that use AAC on digital tablets also are increasing. These devices provide acoustic feedback to the child, and touch-screen tablets are relatively inexpensive and portable. Medical providers are often asked to justify the purchase of touch-screen tablets or AAC devices. It cannot be assumed that the use of AAC alone will lead to functional oral communication without a therapeutic plan.368 Current scientific evidence does not support the use of facilitated communication in which a nonverbal individual is guided to communicate.369,370 This differs from AAC, in which the individual is taught to communicate independently. Future strategies to promote communication are expected to incorporate evolving knowledge about sensory processing and connectivity of brain functions in people with ASD.
Children and youth with ASD often have deficits in pragmatic language that can affect social interaction with adults and peers and academic performance as more complex language becomes required for reading comprehension and analysis of information. In addition, literal interpretation of language and difficulty in understanding the intent of other people leads to behavioral challenges in some people with ASD and affects success in school, leisure activities, and employment. School-aged students with spoken language should have their pragmatic language assessed as part of their school-related reevaluations, with consideration of pragmatic language testing if academic problems and inattention are noted in the classroom. Interventions may include individual and group approaches that include teaching and practicing conversation. The pediatrician may refer the child for private speech-language therapy if he or she is not eligible for services in school or if increased intensity of intervention is desired. Although the impact of speech-language therapy on structural language improvement has not been adequately studied, improvement in ratings of conversational competence by parents and of classroom learning skills by teachers supports the recommendation for social skills and social language interventions for students with ASD.371
Children with ASD may have low muscle tone or a developmental coordination disorder. Although the ages for sitting and walking do not differ between children with ASD and children with typical development, both fine and gross motor skills may be delayed in preschool-aged children with ASD.372 Attention to position in space in children with a coexisting diagnosis of ADHD may further complicate delays in coordination.373 Occupational therapy services may be indicated to promote fine motor and adaptive skills, including self-care, toy use, and handwriting. Almost two-thirds of preschool-aged children with ASD are reported to receive occupational therapy services.374
Similarly, some children with ASD may have gross motor impairment on formal testing that may benefit from therapeutic intervention focused on building strength, coordination, motor planning, or skill acquisition to promote safer mobility or play. Toe walking is common among children with ASD as well as in other developmental disorders in early childhood. The etiology of toe walking in ASD is unclear, although sensory aversion and habit or perseveration have been proposed. Common interventions for toe walking may include passive stretching, orthotics, and casting. Impairment in gross motor function may affect the capacity of a child with ASD to participate in leisure activities with the family or with peers and may impair participation in sports or interactive play beyond the effect of their social skills alone. Impaired motor skills may further decrease opportunities for social skills development and active learning and may be a risk factor for overweight and obesity.375 For motor therapies to be provided in the educational setting, a significant delay for age that affects function in school must be identified on a valid assessment measure.
In 2012, the AAP published a clinical report, “Sensory Integration Therapies for Children With Developmental and Behavioral Disorders,” providing important background information and recommendations for pediatricians.376 Since that publication, the DSM-5 criteria now includes sensory symptoms in the diagnostic criteria for ASD in recognition of the fact that individuals with ASD have sensory challenges that may be related to repetitive and other challenging behaviors.377 Indeed, sensory symptoms exhibited by young children, such as food selectivity, covering their ears for certain sounds, and visual scrutiny of aspects of objects, may be among the earliest differences families identify in their children’s development. Sensory goals may be included in treatment objectives for students with ASD. Adult-directed approaches provided through sensory-based interventions may be included in the context of motor and behavioral therapies and in educational settings. Despite the increasing scientific understanding of the neurobiological basis for sensory symptoms in individuals with ASD, empirical interventions in common practice have modest evidence to support their general use at this time.378 Commonly used sensory-based interventions, including brushing of the skin, proprioceptive stimulation by using weighted vests, or kinesthetic stimulation (such as swinging or use of specialized seating, such as a therapy ball, to modulate level of arousal), are not yet supported in the peer-reviewed literature.
Proponents of sensory integration therapies distinguish them from interventions with sensory modalities because of the active engagement with the child in skill building or desensitization. This type of therapy requires a trained clinician, often an occupational therapist, to work with a child by using play and sensory activities to reinforce adaptive responses. The therapist explains the child’s behaviors and responses to caregivers in sensory terms and provides them with strategies to help the caregivers accommodate the child’s sensory needs to decrease functional impairment and tolerate environmental triggers. Advocates of these interventions claim that dysfunction in integration of sensory input contributes to inefficiencies in learning and to behavioral challenges and that therapeutic approaches to sensory integration need to be considered separately from focal sensory-based treatments.379 Although sensory-based therapies are among the most commonly requested therapies by caregivers,361 the evidence supporting their general use remains currently limited.378,379 As with any other intervention, specific goals for sensory-based therapies should be identified, and outcomes should be monitored so that the utility for any given child can be documented.376
Medical Management of Co-occurring Conditions
Co-occurring medical and other conditions, such as seizures, sleep disorders, gastrointestinal (GI) disorders, feeding disorders, obesity, catatonia, and others, have a significant effect on the health and quality of life for children and youth with ASD and their families.380,381 In this section, the co-existing conditions commonly observed in children and youth with ASD are described, and anticipatory guidance and management strategies that primary care providers may consider are provided.380
There is both an increased risk for ASD among children and youth with epilepsy and an increased risk for seizures in those with ASD. The pooled risk for ASD among children with epilepsy is 6.3%, with almost 5 times as many in samples with the highest rates of co-occurring intellectual disabilities.173,382,383 The rate of seizures among people with ASD in community-based populations has been reported to range from 7% to 23%, with rates as high as 46% reported in clinically ascertained samples.170 It has been suggested that the risk for seizures is not increased in individuals with ASD without intellectual disability. Risk factors for the increased likelihood of seizures in people with ASD include intellectual disability (as noted), female sex, and lower gestational age.174 Specific genetic disorders associated with ASD, such as tuberous sclerosis, also may contribute to seizure risk in early childhood. Onset is bimodally distributed, with most first seizures occurring in early childhood and in adolescence; 20% of first seizures occur in adults with ASD.170 Children with ASD and seizures tend to have more behavioral challenges, independent of cognitive skills.382 Screening EEGs are not recommended for patients who are asymptomatic. An overnight EEG should be considered when the clinical history suggests seizures and atypical regression. Response to conventional antiepileptic drug therapy varies greatly, with some reports suggesting an increased risk for treatment-resistant epilepsy in individuals with early onset of seizures and delayed global development.384
GI symptoms, such as abdominal pain, constipation, diarrhea, gastroesophageal reflux, and feeding problems, are more commonly reported in children and adolescents with ASD than in those with developmental delay or typical development.385–387 A large prospective cohort study revealed differences as early as 6 to 18 months of age in stooling patterns and feeding behaviors in children who were later diagnosed with ASD.388 Because of language delays and atypical sensory perception or report of pain, individuals with ASD may be less likely to report specific GI discomfort and may present with agitation, sleep disruption, or other behavioral symptoms rather than GI discomfort.387 Characteristics of ASD that might affect GI symptoms include resistance to change (feeding and constipation), comorbid anxiety (pain, feeding, and motility disorders),389 and altered sensory perception (pain, feeding, and constipation). At present, there is no evidence of an association of ASD with celiac disease, specific immune dysfunction, or motility disorders (eg, gastroesophageal reflux) in children with ASD.
It would be expected that these disorders would occur at least as frequently among individuals with ASD as among individuals in the general population, and they should be considered when the child has a history of GI symptoms or a change in behavior.390,391 Ongoing research is focused on whether differences are present in immunologic function, motility, or the microbiome in individuals with ASD.392–394
Selective eating is common in children with ASD.386 A limited diet may influence GI symptoms, such as constipation,395 and alter the intestinal microbiota. GI disorders should be considered in patients with ASD if they present with typical GI symptoms or with agitation, food refusal, or sleep disturbance.387,396 The indicated GI workup will depend on the specific symptoms. Children with ASD should be offered the same approaches to treatment of GI disorders as other children. Modifications of conventional interventions to accommodate for symptoms of ASD might include consistent behaviorally informed approaches for constipation and encopresis.
Up to three-quarters of children with ASD have problems related to eating, including food selectivity based on texture, color, or temperature; rituals around food presentation; and compulsive eating of certain foods.397–399 Behavioral refusal may also present as the child holding food in the mouth, volitional gagging, and emesis. Common related problems include pica (eating of nonfood items) and rumination (self-stimulatory emesis and reswallowing of stomach contents). By age 16 months, children who are later diagnosed with ASD are observed to be more selective in their eating patterns than are other toddlers.400 Problems around mealtime behavior and food choice often persist into adolescence. The frequency of feeding challenges in children and youth with ASD may relate to the core symptoms of restrictive and repetitive behavior and differences in sensory perception related to smell, taste, and texture.401
Children with developmental delays may also have delayed oral motor skill development and may demonstrate food refusal of textures that they cannot physically chew or swallow. Discomfort can lead to food refusal, so initial evaluation should include consideration of gastroesophageal reflux, dental pain, food allergies, lactose intolerance, and significant constipation.387 If oral-motor concerns are observed, speech or occupational therapy assessment is indicated.
Because feeding problems are so common among children with ASD, a dietary history should be obtained at health supervision visits. Physiologic needs for macronutrients and micronutrients are the same for children with ASD as for other children. As with other children in the United States, insufficient intake of fiber, vitamin D, and calcium are common.402 Rare cases of severe nutritional deficiencies, such as rickets (vitamin D),403 scurvy (vitamin C),404 and keratoconus (vitamin A),405 have been reported in children with ASD with severe food aversions. If supplements are used to correct for poor vitamin D or calcium intake, it is important to confirm that the dose is sufficient for the age and sex of the child.406 Food fortification in the United States may supply adequate amounts of vitamins and minerals for some children with selective diets, so additional multivitamins may not be necessary.407 Consultation with a registered dietitian may be helpful to be able to guide families regarding the nutritional sufficiency of their child’s diet.
The clinician can counsel families about offering children routine meals and snacks, discouraging snacking through the day, promoting self-feeding, and using basic behavioral approaches to encourage mealtime structure and predictability with minimal distraction. Children with ASD need to be offered new foods multiple times to become familiar with them. Feeding problems that affect nutrition or family function or that are specialized, such as mouth packing, rumination, severe pica, and intense aversions, are likely to need the support of professionals with expertise in behavior management and/or oral-motor therapies (speech or occupational therapy).408,409 Food refusal may stem from discomfort, so consultation with a gastroenterologist may be helpful. Gastrostomy-tube placement and nonoral feeding should only be considered after appropriate behavioral intervention has failed.
Children and youth with ASD have greater risk for overweight and obesity than those in the general population.410–413 People with ASD have fewer opportunities and perhaps less interest for active leisure or organized sports, have repetitive eating patterns that may include energy-dense foods, and are more likely to be prescribed medications, such as atypical neuroleptics (or antipsychotic medication) and anticonvulsants, that often contribute to excessive weight gain. Sleep disorders may further predispose them for obesity. Primary care providers should monitor a child’s age-specific BMI percentile in the context of health supervision care and address modifiable risk factors through anticipatory guidance for their patients with ASD. Programs that address healthy weight for children and youth with typical development may need to be modified for successful use for patients with ASD.414
Children with ASD commonly have unmet dental needs. Difficulty cooperating with hygiene and professional care are reported barriers for dental care. Even when insurance coverage is available, children with ASD have fewer visits for routine care.415 There are limited data about the prevalence of caries or gingival disease in children with ASD. As with other children, anticipatory guidance should include attention to dental hygiene and fluoride use, if appropriate, from a young age. Behavioral strategies may be helpful to prevent the need for dental care under sedation.
Children and youth with ASD may put nonfood items in their mouths long after the developmental period of early childhood, when pica is expected. Pica is reported in up to one-quarter of preschool-aged children with ASD and is documented to persist in individuals with intellectual disability.416,417 The persistence of pica may be attributable to sensory differences, perseveration or obsession, and oral exploration of the environment. Clinicians need to be aware of persistence of pica in children and youth with ASD because of the risk for toxic ingestions, risk for lead intoxication, potential for infection, and the risk for mechanical ingestions ranging from batteries to bezoars.418 Obstruction and perforation need to be considered in children with pica who have acute abdominal symptoms. Iron deficiency is associated with pica in the general population.419 Laboratory monitoring of blood lead and iron deficiency in children with pica is suggested in the context of primary care. Behavioral intervention includes reinforcing appropriate behaviors, ensuring adult supervision, and putting into place environmental safeguards for prevention.
Sleep disturbance is common in individuals with ASD and may be associated with exacerbation of problematic daytime behavior.420–427 Problems with initiating and maintaining sleep are reported for 50% to 80% of children with ASD.428 Children who are later diagnosed with ASD are reported to have had sleep problems by 30 months of age.429 Sleep problems in individuals with ASD persist; almost half of adolescents with ASD continue to have sleep symptoms.430 Adolescents are more likely to have shorter sleep duration, daytime sleepiness, and delayed sleep onset compared with younger children with ASD, who are more likely to have bedtime resistance, parasomnias, and night-waking. Reasons for the increased frequency of sleep disturbances in children and youth with ASD may include differences in melatonin metabolism,431 developmental disruption of other neurotransmitter systems critical to sleep, and lack of social expectations, among other explanations. Genetic disorders, such as Smith-Magenis syndrome, are associated with both ASD and sleep disruption.432 Biological reasons for disrupted sleep that are not unique to children with ASD may include restless leg syndrome, which may be associated with low iron stores,433 and coexisting neurologic or behavioral diagnoses, such as epilepsy, anxiety, ADHD, or mood disorders. The most common cause of both delayed sleep onset and night wakings are learned behaviors. As with other children, the evaluation of the child with ASD with delayed sleep onset, night wakings, and/or early-morning wakings should include a history of comorbid medical conditions that might disrupt sleep, such as gastroesophageal reflux, seizures, asthma, allergies, eczema, or enuresis. Snoring might suggest obstructive sleep apnea and would prompt referral for additional assessment. Children who play video games or engage in other screen time close to bedtime have later bedtimes and may have more difficulty falling asleep.434,435 Restless sleep and night wakings would suggest a need for laboratory evaluation for ferritin and other indicators of iron sufficiency to determine if low iron stores might be present.428 An environmental history of the household may help to determine if household noise, parental work hours, or other factors may affect sleep. The bedtime routine and response to night-waking should be reviewed to determine the behavioral approaches to consider.
Empirical support exists for the effectiveness of parent education and behavioral interventions for children with ASD and sleep disturbances.425,436–440 Behavioral intervention includes parents establishing bedtime routines and making clear their expectation that the child sleeps in his or her own bed. This may be difficult to establish for children with ASD, who may not appreciate the social conventions around sleep time and may have repetitive rituals and comorbid anxiety or ADHD. Despite these challenges, behavioral strategies are successful when consistently implemented.440
No medication is currently approved by the US Food and Drug Administration for the treatment of insomnia in children with or without ASD. Any medication elected should be started at a low dose and monitored for adverse effects.427 Sleep onset may be aided by treatment with melatonin441,442 at doses from 1 to 6 mg443 and may be maintained with long-acting melatonin.442 Adverse effects are uncommon but may include nightmares. α-adrenergic agents (eg, clonidine) and antihistamines (eg, diphenhydramine) are often prescribed to help with sleep onset or to address night-waking in children, but the literature provides little support for their use.444,445 Disordered sleep is associated with challenging daytime behaviors in children with ASD446; addressing one may help with the other.
Accidents, including drowning, are a major cause of morbidity and mortality in children and youth with developmental disabilities, including ASD.447,448 Children and youth with ASD may have decreased awareness of social convention and community rules as well as impulsivity and perseverative interests that draw them to potential dangers, such as bodies of water and busy roads. Wandering off (also called elopement) places them at risk for injury. Wandering, if present, should be included in the problem list as a coexisting diagnosis in patients with ASD. In an online study, 1218 families of children with ASD were questioned about elopement.447 Nearly half of children with ASD between the ages of 4 and 10 years had tried to elope. Almost half of those children were missing long enough for their parents to contact the police. Of those children, approximately two-thirds were at risk for traffic-related injury and almost one-third were reported to have had near-drowning episodes. Data from a national survey revealed that elopement attempts in the past year were reported by approximately one-third of parents whose children had ASD with or without intellectual disability.449 Wandering may persist into adulthood.
In the survey by Anderson et al,447 parents reported that the most common perceived reasons for elopement were enjoyment of running, attempts to get to a desired location (such as a park), pursuit of an intense interest (eg, water), and escape from situations or sensory events that made them anxious. Because the risk for elopement increases with the severity of ASD and with co-occurring intellectual disabilities, many of the individuals at greatest risk have limited language and cannot tell first responders their names, addresses, or phone numbers if they get lost. Police may interpret aggression caused by fear as combative behavior.
Prevention is the most important intervention for elopement. Parents participating in a large national survey of children with special health care needs reported primarily using physical and electronic barriers to try to prevent elopement, especially in children who also had intellectual disabilities.447,449 Information on prevention and management of wandering is available for parents and clinicians (http://nationalautismassociation.org/big-red-safety-box/). Consistent, adequate adult supervision is important in all environments: school, home, and community settings. Families note that increased supervision needs result in increased family stress. Families may need to consider deadbolts, fencing, and alarm systems for safety as well as personal GPS devices and identification bracelets or other identification. Local law enforcement agencies may support GPS tracking. Alerting neighbors and local law enforcement officials as well as securing pools in the neighborhood and creating a family emergency plan are suggested. If impulsivity and motor hyperactivity contribute to elopement, examining the utility of medication as part of an overall plan may be considered. Similarly, addressing sleep issues becomes important if the child is at risk for wandering at night. Teaching safety skills and appropriate community behaviors is critical to prevention. All children with ASD, no matter their level of cognitive skills, are at risk for wandering.449
There is increasing appreciation that individuals with ASD may have developmental coordination disorder and other neurologic problems. Tic disorders occur with an increased frequency in children with ASD.450 Distinguishing complex tics from stereotyped movements may be challenging.
Catatonia was added as a possible coexisting condition to ASD in the DSM-5. Slow initiation of movement and reported deterioration in motor performance have been treated with lorazepam, electroconvulsive therapy, and behavioral interventions, but the therapies do not have a strong literature base.451 Later loss of motor skills in adolescence should prompt evaluation by a neurologist for underlying reasons. Regression in language or social interest is reported in approximately one-quarter of children later diagnosed with ASD. It is recognized most commonly between 18 and 24 months of age. Regression later in childhood requires evaluation.
Co-occurring Behavioral Health Conditions
Co-occurring behavioral symptoms include hyperactivity or inattention, aggression, outbursts, and self-injurious behaviors. Although these behaviors are not core features of ASD, they commonly interfere with functioning in school, at home, and in the community and contribute substantially to the challenges faced by families.293,294,381,452–457 Psychiatric conditions (such as ADHD, anxiety, OCD, mood disorders, conduct disorders, or others) are identified in 70% to 90% of children and youth with ASD.458,459 Behavioral challenges have a significant effect on health and quality of life for children and adolescents with ASD and their families.460 Patients with ASD, like other children and adolescents, should be regularly screened for behavioral and/or emotional conditions, as recommended by the AAP.461 The effect of behavior on home and school functioning is often assessed as part of school testing by using parent and teacher questionnaires, such as the Behavior Assessment System for Children, Third Edition, Parent Rating Scales,79,462 or the Child Behavior Checklist.82,463,464
With change in behavioral symptoms, physical sources of discomfort and behavioral intervention should be considered.465 If behavioral interventions are insufficient to address the challenges or are unavailable at the time, medication might be considered (see Table 10 for guidance on prescribing medication).
Changes in DSM-5 criteria have provided flexibility to diagnose other DSM-5 disorders in addition to ASD, which can help guide treatment. Approximately half of children and youth with ASD also may fulfill diagnostic criteria for ADHD.459 Pediatricians should keep in mind that some children who are later diagnosed with ASD may have been initially identified as having ADHD.69 Symptoms of ADHD may further compromise social skills function in children with ASD because of inattention to social cues and impulsivity. Standard rating scales used to assess symptoms of ADHD have not yet been validated for individuals with ASD. However, they are useful in determining the clinical impact of symptoms for an individual patient and in monitoring treatment. It is important, however, to consider the differential diagnosis of inattention and hyperactivity in the context of the language impairment and perseverative focus that often accompanies ASD. Children with delayed language may appear more inattentive. If they are expected to perform activities (including schoolwork) that they are not able to understand or accomplish, a child with ASD may engage in behaviors to escape, which can be interpreted as inattention and hyperactivity. Patients with ASD may be focused on their perseverative interests and may be internally distracted, as opposed to distracted by the environment. Evaluation of the symptom of inattention or impulsivity includes assessing language and educational abilities. Appropriate educational modifications and use of language for instruction that the student can understand are critical for successful intervention. Behavioral strategies should address reinforcement of on-task behaviors, breaking down tasks into units that can be completed successfully, breaks for activity (often included in sensory activities), and adult supervision appropriate for the demands. The same medications that are used for symptoms of ADHD in children without ASD are used in similar doses for children with ASD.466 Routine monitoring is important because children with ASD may be at greater risk for adverse effects467 (Table 11). The evaluation of a child for a possible co-occurring diagnosis of ADHD also should include consideration of a co-occurring diagnosis of anxiety.464,466
The DSM-5 classification system separates anxiety disorders into separation anxiety disorder, selective mutism, specific phobia, social phobia, panic disorder, agoraphobia, and generalized anxiety disorder as well as unspecified anxiety disorder. As many as 40% to 66% of school-aged children and adults with ASD are reported to also have anxiety disorders.458,459 Anxiety disorders are most commonly identified in children with ASD and typical cognitive and language abilities.468,469 Symptoms may be present in early childhood and manifest as behavioral challenges, such as overreactivity. Biological predisposition to both ASD and anxiety may be attributable to common genetic factors and/or altered neurophysiologic responses to stress.470
Core symptoms of ASD decrease the ability of individuals with ASD to predict the actions or interpret the beliefs of others, which may lead to a constant state of heightened worry. Repetitive behaviors may, in part, serve to instill predictability, so anxiety may lead to increased stereotyped behaviors or perseverative thoughts. Evaluation of anxiety requires consideration of the language demands of the environment, academic expectations, social demands, and underlying fears or phobias. Youth with ASD may lack sufficient language or insight to describe their symptoms. Getting information from multiple sources and looking at the behavioral manifestations related to context will help to correctly identify anxiety in patients with ASD.471
Strong evidence from RCTs supports the use of cognitive behavioral therapy for anxiety symptoms in school-aged children with ASD, especially those with typical-range intelligence.295,298,472–475 Anxiety may be associated with reported GI and sensory symptoms.389 Some individuals find that sensory redirection or sensory activities used in the context of a behavioral program are helpful to diminish feelings of anxiety. Other individuals may find symptom relief with the introduction of routine and structure if anxiety is exacerbated by uncertainty or associated with sensory under- and overreactivity.377 Nonpharmacologic approaches, such as neurofeedback and digitally delivered approaches to self-regulation, are being evaluated for their therapeutic potential. Medications used for anxiety in the general population may be considered as part of an overall treatment plan for children and youth with ASD (see Table 11 for psychopharmacotherapy of children with ASD and anxiety).
Depressive disorders are more common among children and adults with ASD than in the general population. Reported rates of coexisting depression in adults and children are highly variable, ranging from 12% to 33%.458,476,477 Symptoms of depression are more likely to lead to dual mental health and developmental disability diagnoses in adolescents and adults with ASD than in children. The coexistence of mood disorders and ASD may be associated with genetic and neurobiological factors as well as environmental factors related to chronic stress and difficulty with understanding social situations. Both elevated and depressed mood may present as behavioral symptoms in youth with ASD. Changes in affect, participation, sleep habits, and eating may be symptoms of an underlying mood disorder. Attempted suicide is reported to occur more frequently in people with ASD than in the general population. Risk factors include peer victimization, behavioral problems, minority race or ethnicity, male sex, lower socioeconomic status, and lower level of education.478 The AAP recommends screening for depression in patients older than 12 years. Until ASD-specific measures are developed, the same approaches used for all other adolescents at increased risk for depression should be considered.479
As in children and youth with typical development, assessment of depression and other mood disorders must include family history, history of environmental stressors, the potential for toxic ingestions, and evaluation for comorbid conditions. Interventions for depression include supportive therapy, cognitive behavioral therapy, and medication, if indicated, as coordinated interventions (see Table 11 for medication use). Antidepressant use in people with ASD has not been demonstrated to address aggression and has inconsistent effect on anxiety.480 Medication recommendations are based on data from the general pediatric population and expert consensus.469
The DSM-5 criteria for bipolar illness include changes in activity, energy, and mood. It may be difficult to make a diagnosis in people with ASD with limited language. The co-occurrence of bipolar illness and ASD in individuals with typical intelligence ranges from 6% to 21%.481 Lifetime diagnosis of bipolar illness in adults with ASD is reported to be 9%.458
Although restricted and repetitive behaviors are symptoms of ASD, some individuals with ASD may also have coexisting OCD. Obsessions are recurrent, unwanted, and persistent thoughts, images, or urges that cause distress. Compulsions are repetitive behaviors or thoughts with rigid rules performed to reduce anxiety. Unlike the stereotypic behaviors of ASD, compulsions usually follow an obsession, diminish anxiety, and are not desired by the individual or perceived as pleasurable.482 Under the DSM-5, OCD-related disorders include hoarding disorder, excoriation (skin-picking) disorder, trichotillomania, substance- or medication-induced obsessive-compulsive and related disorder, and obsessive-compulsive and related disorder due to another medical condition. The perseverations associated with ASD may be qualitatively different and less sophisticated than the repetitive and intrusive thoughts and actions associated with OCD.483 Repetitive behaviors in general may help an individual with ASD regain a sense of predictability. Anxiety, phobias, and/or depression may coexist with OCD in youth with ASD.
Behavioral approaches are recommended as the first line of treatment of symptoms of OCD, depending on the language and cognitive level of the patient. Cognitive behavioral therapy, including exposure and response prevention with or without a selective serotonin reuptake inhibiter, has been demonstrated to be the most effective treatment for youth with OCD who do not have ASD. Cognitive behavioral therapy may be less effective, with fewer remissions, in youth who also have ASD484 (see Table 11 for medication management).
Disruptive Behavior Disorders: Aggression, Self-Injurious Behavior, and Tantrums
Disruptive behaviors, such as aggression, self-injury, and tantrums, may complicate home and community management of individuals with ASD. Behavioral outbursts may occur in response to stressful events in the environment, in reaction to a medical condition, as functional communication, or as a symptom supporting diagnosis of a co-occurring mental health disorder.485 Functional behavioral analysis and implementation of behavioral strategies can be an important initial step in management.486 A proposed pathway for the primary care setting for management of irritability that leads to disruptive behaviors in youth with ASD is proposed by McGuire et al.485 Disruptive behaviors may serve as communication to escape from a demand or an undesired situation. If successful, they may become part of a behavioral pattern. New onset of severe behaviors requires consideration of potential medical reasons (see Table 12). Pharmacologic treatment should be considered if no medical etiology is identified and if the behavior is associated with irritability, is not responsive to available behavioral interventions, or is related to a co-occurring diagnosable behavioral health disorder, such as anxiety, mood disorders, thought disorders, and/or ADHD.
It has been reported that between 8% and 68% of children with ASD demonstrate aggressive behavior, depending on how stringent the definition is.454 Aggressive behaviors were reported on the Child Behavior Checklist for one-quarter of children attending an ASD clinic, with similar rates from 2 to 16 years of age. Aggression was associated with hyperactivity, lower cognitive skills, sleep problems, and internalizing behaviors such as anxiety. There was no association with sex. Researchers of other studies have observed increased rates of physical aggression in children with ASD who have lower adaptive skills and frequent repetitive behavior.487 Management of co-occurring sleep problems and hyperactivity may be helpful in a treatment plan488 that includes behavioral intervention to address aggression and targeted pharmacotherapy.487
Self-injurious behaviors are reported in 40% to 50% of individuals with ASD at some point across the lifespan489 and may occur more frequently in people with ASD who also have aggressive behaviors and sleep problems.490 Self-injurious behaviors in individuals with ASD may be repetitive and self-stimulatory (such as scratching, pica, or rumination). Head banging and self-hitting may occur as part of a tantrum. Like aggression and other disruptive behaviors, self-injurious behaviors may serve as communication to escape from demands or situations that the individual does not want to be in. The type of self-injurious behavior may change if the intervention of prevention or blocking is not associated with addressing the underlying reason for the behavior. Persistence of self-injurious behaviors in individuals with ASD is associated with more limited cognitive and language abilities, hyperactivity, impulsivity, repetitive behavior, and more challenges with social interaction.491 There is an association of self-injury with specific genetic disorders that are not associated with ASD, such as the severe self-biting of Lesch-Nyhan syndrome. Self-injurious behavior is associated with genetic disorders that are also associated with ASD, such as Cornelia de Lange syndrome, fragile X syndrome, and Smith-Magenis syndrome.492 In the case of aggressive, self-injurious, and disruptive behaviors, the primary care provider needs to assess the safety of the child and family in an ongoing fashion. Referral to community services and for behavioral intervention should take place if behaviors are unsafe or if the patient is not responding to the treatment plan.
Psychopharmacologic Approaches to Management
The use of medications to treat behavioral and psychiatric symptoms in children and youth with ASD has increased significantly since the publication of the 2007 AAP clinical reports.493,494 With a shortage of specialists, more medication management, including prescription of atypical antipsychotic medications, is taking place in the primary care setting.495,496 Large national studies of insurance claim data from Medicaid and commercial insurers reveal rates of psychopharmacology prescription for patients with ASD to be 56% to 65%.476,493,497 One or more psychotropic medications are prescribed for 1% of children with ASD younger than 3 years, for 10% to 11% of children aged 3 to 5 years, for 38% to 46% of children aged 6 to 11 years, and for 64% to 67% of adolescents aged 12 to 17 years.498,499 Psychotropic medication use increases with increased age, lower range of cognitive skills and/or presence of intellectual disability, and higher prevalence levels of challenging behavior or coexisting psychiatric diagnoses.476,497–501 Prescription of medication also appears to be affected by demographic factors, such as race, ethnicity, and geography.497,498,502 Reported polypharmacy rates range from 12% in a registry cohort recruited from diagnostic clinics499 to 29% to 35% in large studies of Medicaid claims data.476,493
Medication may be helpful to address co-occurring symptoms or disorders. Clinicians should carefully weigh potential risks and benefits before prescribing medication for behavior and use psychotropic medications as part of a comprehensive treatment approach. The prescribing clinician should understand the indications and contraindications, dosing, potential adverse effects, drug-drug interactions, and monitoring requirements of the medications they prescribe.6 6Table 10 provides guidance for principles of prescribing medication, and Table 11 lists pharmaceutical options for common behavioral-symptom clusters. Psycho-pharmacogenomic testing for genetic variants that increase the likelihood of adverse effects is an emerging area for precision medicine. Prescribers should consider CYP2D6 and CYP2C19 metabolizer status in making medication decisions for selective serotonin reuptake inhibitors (SSRIs), for example, despite limited data at present to guide practice.503,504 The limited data on the utility of psycho-pharmacogenomic testing at the time of this publication limits insurance coverage for many patients. Recommendations for testing are expected to rapidly change with ongoing research.503–505
Areas of Psychopharmacologic Research
As the neurobiology of ASDs are better understood, novel psychopharmacologic agents might be developed that will better manage co-occurring symptoms and/or address core deficits. Some potentially important lines of research involve medications that modulate metabolism of excitatory neurotransmitters (such as glutamate and γ-aminobutiric acid), block acetylcholinesterase and/or nicotinic acid receptors, and act as hormones that naturally promote social affiliation (such as oxytocin and vasopressin). Drug trials involve newly formulated agents as well as repurposing exiting medications used for other purposes.506–509
Better understanding of the neurobiology responsible for the symptoms of ASD will allow for the identification of targeted psychopharmacologic interventions. The use of psycho-pharmacogenomics to identify which patients might genetically be at greater likelihood of benefit or at increased risk for adverse effects from specific medications is an important area of research.510
Integrative, Complementary, and Alternative Therapies
Despite the advances in understanding the neurobiology of ASD, many unanswered questions remain about why ASD occurs and how best to treat it. Families often consider nutritional interventions and nonmedical therapies without a scientific evidence base to address the symptoms that conventional interventions cannot rapidly address, or there is limited access to conventional services in their community. Primary care providers are often asked about nonstandard interventions that are used in integrative practice or are promoted on the Internet, in the popular press, by other families, and by celebrities.511–516 The National Center for Complementary and Integrative Health maintains a Web site in which current information on novel therapies in popular use for people with ASD is reviewed.517 In the past decade, an increasing number of interventions based on theories of causation of ASD that are, as yet, unproven have been examined in clinical trials. Appropriately designed trials have provided evidence to support some interventions, such as the dietary supplement melatonin, and have disproven others, such as secretin.518 Many interventions, although still widely used, remain unproven.
Complementary therapies are often attractive to families because they are purported to correct putative biological causes of behavioral symptoms and may be discussed with an optimism about outcome that is often not conveyed with the recommendation for conventional therapies. Between 28% and 74% of children with ASD are given at least 1, and usually more than 1, complementary therapy.519–521 Although use of novel therapies is common among children with a range of developmental disabilities, children with ASD who are irritable or overactive or who are reported to have food allergies may be more likely to be given additional therapies.522
Complementary, alternative, and integrative therapies used for ASD can be grouped into 3 general areas: (1) natural products (including herbs, vitamins and minerals, and probiotics), (2) mind and body practices (including yoga, chiropractic, massage, acupuncture, progressive relaxation, and guided imagery), and (3) other therapies (including traditional medicine and naturopathy).517
Dietary interventions used to treat symptoms of ASD are perceived by many families as beneficial because they are natural and without adverse effects. Dietary elimination of gluten- and casein-containing foods is often implemented in an attempt to ameliorate core symptoms of ASD, not on the basis of allergy or celiac disease.523,524 The double-blind clinical trials to date have not demonstrated a treatment effect with diet.524,525 Whether a subgroup of children with GI symptoms might benefit from these or other dietary interventions requires additional study. Children may be adequately nourished on a casein-free diet with calcium and vitamin D supplementation. Nutritional counseling is recommended if a trial of this diet is elected.406 It may be that improvement in unrelated conditions may influence behavioral symptoms (eg, removal of dairy products may decrease irritability attributable to lactose intolerance).
Dietary supplements are often given to children who are selective eaters by their families to compensate for a limited diet.406 However, many children with ASD are given vitamins and minerals to treat proposed biochemical abnormalities that have been proposed to be unique to ASD. Popular dietary supplements include vitamin D,526,527 vitamin B12,528 vitamin B6 6 with magnesium,529 omega-3 fatty acids,530 and multivitamin preparations. The literature to date is controversial with respect to vitamin supplementation as a treatment of symptoms of ASD, and at this time, no conclusive evidence exists that people with ASD require different nutrient intake than that recommended in the Dietary Reference Intakes (https://www.ncbi.nlm.nih.gov/books/NBK225472/). The long-term risks of high-dose supplementation have not been studied.531 Although maternal folic acid status may provide biologically plausible risk for ASD, there is no evidence that supplementing with B vitamins has therapeutic benefit at this time, whether a child carries common variants in the MTHFR gene.532,533 Of dietary supplements in common use, melatonin has been demonstrated to be a safe and effective intervention for sleep in children with ASD.428
Nonbiological interventions used for symptoms of ASD are popular and have also been increasingly studied. There has been conflicting evidence regarding the effect of music therapy,534 yoga,535,536 massage,537 and equine-assisted therapy538,539 on the symptoms of ASD in children, but evidence does not support these therapies for treatment of the core deficits of ASD at this time. Evidence to date does not support the use of auditory integration training, in which an individual listens to altered sounds through headphones in an effort to change auditory or other processing.540 Existing studies are insufficient at this time to support dance therapy, drama therapy, and chiropractic therapy.541
Medical interventions used for nonstandard purposes also are sometimes prescribed for symptoms of ASD. Clinical trials do not support the use of antifungal agents, immunotherapy, or hyperbaric oxygen treatment, and concern for safety, in addition to lack of supporting data, cautions against chelation therapy for children with ASD.516
As with any intervention, families electing a novel therapy should work with their therapeutic team to identify target symptoms they hope to address and develop a monitoring system to track change. Interventions should be implemented in a stepwise fashion so that proper attribution of effect is possible and confounding factors can be identified. It is important that the medical home provider and family collaborate to select and monitor safe and effective interventions.542
Section 6: Working With Families
Families play a key role in effective treatment for children with ASD. Recognition that individuals who are affected and their families are partners with the professionals in all aspects of planning a personal, local, and national agenda for ASD has emerged and has shaped approaches to community services as well as research planning.543 Provision of patient- and family-centered care requires the clinician to educate the family about the child’s health and engage in respectful dialogue. Resources to support the clinician in talking to families about the diagnosis include a toolkit developed by the Autism Speaks Autism Treatment Network (https://www.autismspeaks.org/tool-kit/atnair-p-guide-providing-feedback-families-affected-autism).
Impact of ASD on the Family
The impact of having a child with ASD on other family members and on society is considerable. Parents of children with ASD report more stress544,545 and increased costs546 than do parents who do not have a child with ASD. More than half of families report that a parent needs to cut back on work or stop working because of the care needs of the child.547 The largest societal costs associated with ASD are special education, residential care, and lost days of caregiver work.4 4 Peer support for families of children with ASD is associated with less parental stress, less negative mood, and more positive perceptions.548 Parents who understand more about their child’s ASD can advocate for more intensive and appropriate services.549 Best practice includes giving families contact information for a family support group at the time of diagnosis. This support may be a local group that provides face-to-face interaction and community activities or an online community.550 Many families may not have the time or inclination at the time of diagnosis to communicate with other families affected by ASD but may find the support useful later when they are facing the transitions of preschool, adolescence, or adulthood. National support groups that address a wider community of children and youth with special health care needs (such as Family Voices and Parent2Parent), autism-specific national support organizations (such as Autism Speaks and the Autism Society), and local organizations are effective in helping families obtain information and feel supported. Clinicians should familiarize themselves with national and local sources of support and information so that families can be given Web sites or phone numbers at the time of diagnosis and again as indicated. State-specific information on services and Maternal and Child Health Bureau–supported programs are found online (https://mchb.hrsa.gov/maternal-child-health-initiatives/autism). It is important for providers to advocate for instructional material in other languages as well as be knowledgeable of other resources in their communities that can provide services or support to the culturally diverse groups they serve.
Comorbid conditions, such as intellectual disability and/or psychiatric disorders, add to the impact of ASD on family functioning and access to care.551 Although families of older children and youth typically report fewer interactions with professionals, the stress on the parent related to the ASD diagnosis persists.552 Primary care providers should speak with families about the stresses associated with ASD and the health of other family members and make appropriate referrals, either for supportive counseling for the caregivers or agencies that can address behavioral and respite needs of the child or to address unmet health needs in family members.
The effect on siblings also needs to be considered in the context of both anticipatory guidance and primary care. Most siblings of children with ASD do not report having a sibling with a disability to be a negative experience; however, they, too, are at risk for increased stress and subsequent emotional problems.553 Siblings may have precocious involvement in the care of the child with ASD, and some resent the amount of attention and resources the child with ASD requires or the family’s inability to participate in activities in which they see their peers engaging. Proactively teaching siblings about ASD and providing them with peer support may be helpful (Autism Speaks Sibling tool kit: http://www.autismspeaks.org/sites/default/files/a_siblings_guide_to_autism.pdf). Many areas have groups to provide education and support to siblings. It appears that positive parental attitudes and a supportive family setting are associated with better sibling adjustment as well. The pediatrician should monitor the well-being and need for behavioral health supports of siblings as well as parents.
In the AAP’s medical home model, primary care is envisioned as accessible, continuous, comprehensive, family centered, coordinated, compassionate, and culturally sensitive for all children and youth, including those with special health care needs. Children with ASD represent a population that has had difficulty accessing comprehensive coordinated services. The chronic care model provides the structure for clinicians to collaborate with patients and their families.554 Parents of children with ASD perceive care to be less comprehensive, less well coordinated, and less family centered than they desire and report that they are less satisfied with their care compared with parents of children with other special health care needs.555 Parents also perceive their providers as less well informed regarding treatments for ASD, especially complementary, alternative, and integrative therapies, than they would like them to be. Pediatricians report that they lack the knowledge to provide this support to patients with ASD556 as well as the time and resources for specialized care.555,557 Parents of children and youth with ASD would like better access to specialty care and report greater unmet medical and behavioral health care needs558 and a higher financial burden for care compared with parents of children without ASD.559
Increasing family awareness and understanding of the medical home can promote partnership of the parents and primary care provider in planning and coordinating the child’s care and advocating for their needs. National survey data reveal that family-centered and coordinated care through a medical home results in fewer unmet needs,558 including dental needs.560 Organizations, such as Family Voices and Family-to-Family Health Information Centers, can provide information and support as well as resources for guiding families in developing care notebooks for their child. Through their ongoing relationship, providers can help children understand their own diagnosis at their developmental level. Clinicians can remind their patients with ASD of their strengths, such as focus, memory, visual-spatial problem-solving, and others, as well as their personal accomplishments in building skills and mastering barriers to achieve goals. Recognition of achievement of milestones, whether it is toilet training or college graduation, should be acknowledged.
Shared decision-making promotes a collaborative process for planning care through dialogue among the individual who is affected, caregivers, and clinicians. It can be particularly useful when the evidence for an intervention is either controversial or if there is not a uniformly accepted approach.561 Shared decision-making requires clarity of the question to be answered, the options to be understood, and the family context and beliefs to be respected. It is often a process rather than a single conversation. Helping children and youth with ASD understand their diagnosis within the context of their developmental level can help them understand their symptoms and participate in decision-making.562
Transition to Adulthood
Planning for children with ASD to understand and participate in their own health care should begin early in adolescence, with adaptation for developmental abilities. The AAP clinical report “Supporting the Health Care Transition From Adolescence to Adulthood in the Medical Home” provides guidance on the steps necessary to address health care transitions for all patients with chronic conditions.563 Got Transition recommends 6 core elements that need to be addressed for health care transition without disruption in care, including (1) a transition policy for the practice, (2) tracking and monitoring transition, (3) assessing transition readiness for youth and/or family, (4) actively planning the details of transition, (5) transfer of care, and (6) transition completion.564 The pediatric health care provider is also in a position to advise the family about teaching their adolescent with ASD about sexuality.565 Planning for wellness requires considering young adult opportunities for exercise and leisure activities. Planning for medical transition for all aspects of health care should start around ages 12 to 14 years. Educational transition starts at the school level at age 14 years and should involve the student as much as possible.
As a child approaches legal adulthood, the family may need to consider guardianship, either full guardianship in cases in which an adult child cannot make health, financial, or other decisions because of cognitive impairment; limited guardianship in cases in which an individual can participate in decision-making; or conservatorship in cases in which the oversight extends only to financial decision-making. Many young adults with ASD will be capable of independent decision-making and should be prepared for transition to adulthood like other teenagers. The young adult with ASD may be eligible for Supplemental Security Income (SSI) benefits. SSI is a federal program that provides funds for the care of individuals with developmental disabilities who will not be able to support themselves independently. Because of the strict guidelines regarding cognitive and adaptive delays, some adults with ASD may not be eligible for SSI even if their disability is a barrier to employment. Families may wish to meet with a counselor who can advise them on financial planning, with attention to the needs of an adult child with developmental disability.
Students with disabilities who plan to continue their education need to be advised of the transitioning process into postsecondary education. Students with disabilities are protected under IDEA (1990; amended 1997 and 2004); Section 504 of the Rehabilitation Act of 1973; the Americans with Disabilities Act (1990); and the ADA Amendments Act of 2008. Some colleges may provide accommodations to students with developmental disabilities with proper documentation of their needs, including recent academic testing. College students with ASD may benefit from continued supports around social skills development, medication monitoring, and mentoring on living independently.566
Although resources are still insufficient, attention is growing for the need to provide social skills training for youth with ASD with and without intellectual disabilities to enter the workforce in competitive employment as well as job skill development. There are insufficient group-home and supported community–living arrangements for adults with ASD to meet the demands in most communities. The clinician should initiate discussions with parents regarding their plans for where their child with ASD will progress to postsecondary school education and/or employment and their plans for where their child will live in adulthood early in adolescence so the family can plan appropriately with community agencies.
Families should work with their child’s school throughout adolescence to target the skills their child will need to master to be successful in young adult programs, the workforce, or postsecondary education. Goals for increasing skills may include academic, social, communication, leisure, and self-care goals. Families need information to be as proactive as possible in planning for health, academic, job, and residential needs in young adulthood. Additional research is needed to develop and evaluate evidence-based and effective interventions for this age group.314 The pediatric health care provider should provide anticipatory guidance to the family in the context of ongoing health supervision and communicate with identified adult providers for smooth health care transition.567
State Programs, Supports, and Laws
State laws related to education, social service, and insurance for individuals with ASD vary significantly. Although the federal government mandates early intervention for children at risk for developmental delay and a free and appropriate education for students aged 3 to 21 years who have specific educationally handicapping conditions, the implementation of educational services varies by state and locality. The law states that services need to be appropriate, not necessarily optimal. No legal mandate for adult services exists, although the agencies that provide residential services, service coordination, job training, and adult day services typically are funded through the states.
The social services and home- and community-based waiver services available to families whose children have developmental disabilities, including ASD, differ from state to state.568 The clinician should be familiar with the requirements for programs in their state that might lead to a Medicaid waiver (medical assistance as a secondary insurance for children with special health care needs), service coordination, respite care, and other financial or behavioral supports afforded a family when a child has special health care needs. The clinician may need to complete a form to verify the diagnosis and needs for eligibility. Of note, some children with ASD who have typical cognitive abilities may not qualify for many special education and social service supports. However, later on, at the time of transition to adulthood, if they experience difficulty with employment and daily-living skills, they may qualify for support services.