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18 months of age, and has evidenced-based interventions that may improve Drs Hyman, Levy, and Myers all participated in development of the
outline of material to be covered, generation of content, and editing of
function. More accurate and culturally sensitive screening approaches are the document; and all authors approved the final manuscript as
needed. Primary care providers should be familiar with the diagnostic criteria submitted.
for ASD, appropriate etiologic evaluation, and co-occurring medical and The guidance in this report does not indicate an exclusive course of
treatment or serve as a standard of medical care. Variations, taking
behavioral conditions (such as disorders of sleep and feeding, gastrointestinal into account individual circumstances, may be appropriate.
tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder,
All clinical reports from the American Academy of Pediatrics
anxiety, and wandering) that affect the child’s function and quality of life. There automatically expire 5 years after publication unless reaffirmed,
revised, or retired at or before that time.
is an increasing evidence base to support behavioral and other interventions
to address specific skills and symptoms. Shared decision making calls for This document is copyrighted and is property of the American
Academy of Pediatrics and its Board of Directors. All authors have filed
collaboration with families in evaluation and choice of interventions. This conflict of interest statements with the American Academy of
Pediatrics. Any conflicts have been resolved through a process
single clinical report updates the 2007 American Academy of Pediatrics approved by the Board of Directors. The American Academy of
clinical reports on the evaluation and treatment of ASD in one publication with Pediatrics has neither solicited nor accepted any commercial
involvement in the development of the content of this publication.
an online table of contents and section view available through the American
DOI: https://doi.org/10.1542/peds.2019-3447
Academy of Pediatrics Gateway to help the reader identify topic areas within
the report. Address correspondence to Susan L. Hyman. E-mail: susan_hyman@
urmc.rochester.edu
PEDIATRICS Volume 145, number 1, January 2020:e20193447 FROM THE AMERICAN ACADEMY OF PEDIATRICS
restricted or repetitive behaviors.1 criteria after publication of the in children at different ages. What is
ASD affects more than 5 million Diagnostic and Statistical Manual of reported is age at recognition of
Americans, with an estimated Mental Disorders, Fifth Edition (DSM- symptoms, not the actual onset. As
prevalence of approximately 1.7% in 5)1 in 2013. The DSM-5 established a result, prevalence is more typically
children.2 The care needs of children a single category of ASD to replace reported than incidence, reflecting
with ASD are significant, affect the subtypes of autistic disorder, rates of ASD in the population at
parents and siblings as well, and Asperger syndrome, and pervasive a point in time.
require substantial community developmental disorder not
The reported prevalence of children
resources. Direct and indirect costs of otherwise specified in the Diagnostic
with ASD has increased over time,
caring for children and adults with and Statistical Manual of Mental
and primary care providers are often
ASD in the United States in 2015 were Disorders, Fourth Edition, Text
asked about the reasons for this
notation of all coexisting diagnoses as and social communication disorder continues to include the subtypes of
specifiers. are similar and different in terms of diagnoses as defined by the DSM-IV.33
etiology, prognosis, and treatment. The DSM-5 provides the clinician with
Social pragmatic communication Evaluation of pragmatic (social) criteria and definitions for diagnosis
disorder is a new diagnosis described language use by a speech-language of ASD and should guide the clinician
within the DSM-5 that describes pathologist provides additional in the diagnosis and management
individuals who exhibit functionally information to consider this of ASD.
impairing symptoms in social diagnosis.32 The characteristics of
language use but do not have habitual social pragmatic communication Co-occurring Symptoms and
or repetitive behaviors.1 Individuals disorder and how best to address Conditions
who are affected must have deficits in symptoms require additional study. Co-occurring conditions are common
using language for social purposes, in children with ASD and may have
impaired ability to match their Although the DSM-5 provides the great effects on child and family
communication style with the context criteria and definitions to accurately functioning and clinical management
for communication, difficulty assign mental health and behavioral (see also Section 5: Interventions).
following the conventional rules for diagnoses, the International Examples include medical conditions
conversation, and difficulty with Classification of Diseases, 10th such as sleep disorders and seizures;
idioms and unstated meanings in Revision, Clinical Modification is the other developmental or behavioral
language (Table 3). As with ASD, the standardized code set used for diagnoses, such as attention-deficit/
symptoms cannot be better explained payment as well as for statistical hyperactivity disorder (ADHD),
by another DSM-5 diagnosis. tracking through electronic medical anxiety, and mood disorders; and
Research and experience with DSM-5 records. The International behavioral disorders, such as food
diagnoses over time will give Classification of Diseases, 10th refusal, self-injury, and aggression.34
clinicians a better sense of how ASD Revision, Clinical Modification Approximately 30% of children with
a diagnosis of ASD will also have 3 years of age, especially if they have Approximately 9% of children who
intellectual disability,2 and 30% are average or above-average cognitive are diagnosed with ASD in early
minimally verbal.35 Increasingly, abilities.38 Across early childhood childhood may not meet diagnostic
researchers and clinicians recognize development, communication skills criteria for ASD by young adulthood.
how co-occurring disorders help and social affective symptoms may Youth who no longer meet criteria for
identify phenotypic differences improve, whereas repetitive ASD are more likely to have a history
within populations affected by ASD, behaviors may change, possibly of higher cognitive skills at 2 years of
which can influence prognosis and reflecting maturation and/or age, to have participated in earlier
choice of interventions. intervention.39 In general, young intervention services, and to have
children with ASD with language
Prognosis demonstrated a decrease in their
impairment appear to have more
repetitive behaviors over time.41 A
The prognosis and trajectory of social difficulty than do children with
change in clinical diagnosis (eg, to
development for a young child ASD without language impairment.
ADHD or obsessive-compulsive
diagnosed with ASD typically cannot Children with ASD and intellectual
be predicted at the time of diagnosis. disability have the most difficulty disorder [OCD]) is more likely in
However, most children ($80%) who developing social competence.40 The children who were diagnosed with
are diagnosed with ASD after prognosis for children with ASD in ASD before 30 months of age or had
a comprehensive evaluation at less phenotypic and demographic a diagnosis of PDD-NOS per the DSM-
than 3 years have retained their subgroups (eg, girls, racial and IV.42,43 Severity scores are most likely
diagnosis.36,37 It may be more ethnic subgroups, children with to improve in youth who have had the
difficult to recognize mild symptoms macrocephaly) needs additional greatest increase in tested verbal
of ASD in children younger than study. IQ.44 Executive function difficulties
9
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10
TABLE 6 Continued
Autism Screening Description Age Range Average No. Administration Forms Available Psychometric Scoring Method Cultural Source Key References
Tests Items Time EHR compatible Properties Considerations
least 2 y and
chronologic age
41 y; available in
2 forms: lifetime
and current.
overall test:
sensitivity: 0.85
(moderate),
specificity: 0.75
(moderate);
sensitivity can be
improved with
lowering cutoff
for children
younger than 5 y
and 5–7 y,
specificity poor
for younger
children
STAT Clinician-directed, 24–35 mo; 12 20–30 min No Validated by 12 activities to English http://stat. Refs 573 and
interactive, and ,24 mo comparison with observe early vueinnovations. 574
observation (exploratory) ADOS-G results in social- com/
measure; 52 children 24–35 communicative
requires training mo (26 with behavior; risk
of clinician for autism, 26 with categorization
standardized developmental (high risk/low
administration; delay); sensitivity: risk)
not for 0.83, specificity:
population 0.86, PPV: 0.77,
screening NPV: 0.90, for
,24 mo:
sensitivity: 0.95,
specificity: 0.73,
PPV: 0.56, NPV:
0.97; screening
properties
improved for
children .14 mo
Promising autism
screening tests
The Infant/Toddler Parent 6–24 mo 24 15 min No PPV DD: 0.43 (6–8 Identifies language Available in Paul H. Brookes Ref 59
Checklist questionnaire: mo); PPV DD: 0.79 delays (alone/ multiple Publishing Co Inc:
(Communication screens for (21–24 mo) with ASD); risk languages; 800-638-3775 or
and Symbolic language delay for ASD; risk see test www.
Behavior Scales status for social,
11
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Further adaptations of the AAP continues to recommend Barriers to Identifying Risk for ASD
Communication Symbolic Behavior screening using the most valid of Children with milder symptoms
Scale for use in screening for current measures at 18 and and/or average or above-average
language delays in addition to ASD 24 months of age. Pediatricians intelligence may not be identified
have the potential to identify children cannot assume that early intervention with symptoms until school age,
at risk for both disorders (functional systems will screen participants when differences in social language
communication; ages 6–24 being served for language or global or personal rigidities affect function.
months).49,59 Use of this or other delays for ASD at the recommended Some children who are later
screening tools may be coupled with ages. Universal screening is diagnosed with ASD are initially
the online support of a video glossary recommended because symptoms of believed to have precocious language,
of symptoms of ASD, such as that in ASD can be identified in early reading, or math skills, and it is not
process of systematically applying environments that may be child led intensive behavioral intervention, is
interventions based upon the and implemented in the context of supported by a few randomized
principles of learning theory to play activities or daily routines and controlled trials (RCTs) and
improve socially significant behaviors activities and are altered on the basis a substantial single-subject
to a meaningful degree, and to of the child’s skill development (eg, literature.297 When only RCTs are
demonstrate that the interventions pivotal response training, reciprocal considered, few interventions have
employed are responsible for the imitation training, and sufficient evidence to be endorsed
improvement in behavior.”310 The use others).297,309,312,313 To determine either for children younger than
of ABA methods to treat symptoms of what intervention is most 12 years298 or for adolescents.314
ASD suggests that behaviors exhibited appropriate, the behavioral clinician
Children younger than 12 years
can be altered by programmatically works with the family and child to
receiving more hours per week of
reinforcing skills related to determine which skills to target for
ABA were found to be more likely to
communication and other skill development and maintenance and
achieve the individualized goals
acquisition.311,312 Thus, ABA what goals are appropriate.
identified in their programs.315 In
treatments may target development
ABA programs are typically designed retrospective studies, more intense
of new skills (eg, social engagement)
and supervised by professionals ABA therapy was associated with
and/or minimize behaviors (eg,
certified in behavior analysis. The achieving optimal developmental
aggression) that may interfere with
majority of states at this time have outcomes.316 Given the heterogeneity
a child’s progress.
licensure for board-certified behavior of the ASD phenotype, the service
analysts with provisions for payment needs of children, youth, and adults
ABA interventions vary from highly
by insurance. ABA may be prescribed need to be individualized by using
structured adult-directed approaches
or recommended by a physician or available clinical data.
(eg, discrete trial training or
licensed psychologist.
instruction, verbal behavior In some instances, a behavioral
applications, and others) to A comprehensive ABA approach for intervention is needed to address
interventions in natural younger children, also known as early acute serious problem behaviors that
TABLE 12 Common Presentations of Self-Injurious Behavior and the Medical Conditions to Consider If New Onset
Type of Self-Injury Potential Associated Conditions Potential Associated Injury
Head banging Headache, toothache, sinus infection, ear infection Detached retina, abrasions, contusions
Head hitting or slapping Headache, toothache, sinus infection, ear infection Fracture of bones in hand, detached retina, abrasions, contusions
Eye poking Vision loss, eye pain Eye abrasion
Gum or tooth digging or Dental pain, gingivitis Gum injury, tooth autoextraction, tooth fracture
banging
Scratching and skin Allergy, eczema, drug reaction, skin infection or Infection, scarring
picking infestation (eg, fleas, scabies)
Finger and toenail biting Pain Infection, nail removal, ingrown nails, paronychia
or picking
Kicking or stomping Restless leg syndrome, leg pain Bruises, fractures
Rumination Gastroesophageal reflux, eosinophilic esophagitis Esophageal ulceration and bleeding, dental damage, nutritional
compromise, precancerous lesions of esophagus
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Supplemental Information
SUPPLEMENTAL TABLE 14 Recurrent CNVs Most Commonly Identified in Cohorts With ASD by Using CMA Analysis
CNV Region Frequencya Common Clinical Features
16p11.2 deletion 1 in 304 ASD, DD or ID, expressive language impairment, relative or absolute
macrocephaly, overweight
16p11.2 duplication 1 in 396 ASD, schizophrenia, bipolar disorder, ADHD, relative or absolute microcephaly,
3
FROM THE AMERICAN ACADEMY OF PEDIATRICS
PTEN phosphatase and tensin homolog Intracellular signaling, activity-dependent synaptic protein synthesis and
SYNGAP1 synaptic Ras GTPase activating protein 1 degradation
CHD2 chromodomain helicase DNA binding protein 2 Transcription regulation, chromatin remodeling
CHD8 chromodomain helicase DNA binding protein 8
ADNPa activity-dependent neuroprotector homeobox
ARID1B AT rich interactive domain 1B (SWI1-like)
ASH1L ASH1 (absent, small, or homeotic)-like
KDM5B lysine-specific demethylase 5B
KMT2C lysine-specific methyltransferase 2C
SETD5 SET domain containing 5
TBR1 T-box, brain, 1
Based on de novo loss of function variants and small de novo deletions (false discovery rate , 0.01). Adapted from Sanders SJ, He X, Willsey AJ, et al; Autism Sequencing Consortium.
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron. 2015;87(6):1215–1233; Krumm N, O’Roak BJ, Shendure J, Eichler EE. A de novo
convergence of autism genetics and molecular neuroscience. Trends Neurosci. 2014;37(2):95–105; Brandler WM, Sebat J. From de novo mutations to personalized therapeutic interventions
in autism. Annu Rev Med. 2015;66:487–507; De Rubeis S, He X, Goldberg AP, et al; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium. Synaptic, transcriptional
and chromatin genes disrupted in autism. Nature. 2014;515(7526):209–215; Bourgeron T. From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat Rev
Neurosci. 2015;16(9):551–563; and Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;
485(7397):237–241.
a Also involved in microtubule dynamics at the synapse.
4
FROM THE AMERICAN ACADEMY OF PEDIATRICS
SUPPLEMENTAL TABLE 16 Selected Metabolic Conditions That May (Rarely) Be Associated With an ASD Phenotype
Disorders of amino acid metabolism
Phenylketonuria (untreated)
Homocystinuria
Branched-chain ketoacid dehydrogenase kinase deficiency
Disorders of g-aminobutyric acid metabolism
Succinic semialdehyde dehydrogenase deficiency
Disorders of cholesterol metabolism
Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Disorders associated with cerebral folate deficiency
Folate receptor 1 gene mutations
Dihydrofolate reductase deficiency
Disorders of creatine transport or metabolism
Arginine-glycine amidinotransferase deficiency
SUPPLEMENTAL REFERENCES data sets to infer pathogenicity for cohorts. Mol Psychiatry. 2013;18(10):
rare copy number variants in autism 1090–1095
631. Moreno-De-Luca D, Sanders SJ,
Willsey AJ, et al. Using large clinical