Identification, Evaluation, and Management of Children With Autism Spectrum Disorder

Abstract

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are identified in 2 domains: social communication/interaction and restrictive, repetitive patterns of behavior. Children and youth with ASD have service needs in behavioral, educational, health, leisure, family support, and other areas. Standardized screening for ASD at 18 and 24 months of age with ongoing developmental surveillance continues to be recommended in primary care (although it may be performed in other settings), because ASD is common, can be diagnosed as young as 18 months of age, and has evidenced-based interventions that may improve function. More accurate and culturally sensitive screening approaches are needed. Primary care providers should be familiar with the diagnostic criteria for ASD, appropriate etiologic evaluation, and co-occurring medical and behavioral conditions (such as disorders of sleep and feeding, gastrointestinal tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder, anxiety, and wandering) that affect the child' s function and quality of life. There is an increasing evidence base to support behavioral and other interventions to address specific skills and symptoms. Shared decision making calls for collaboration with families in evaluation and choice of interventions. This single clinical report updates the 2007 American Academy of Pediatrics clinical reports on the evaluation and treatment of ASD in one publication with an online table of contents and section view available through the American Academy of Pediatrics Gateway to help the reader identify topic areas within the report.

Promoting Optimal Development: Identifying Infants and Young Children With Developmental Disorders Through Developmental Surveillance and Screening

“…5 In addition, screening for ASD is recommended at the 18-and 24-month visits. 30 In addition, to identify problems not previously recognized in earlier screenings and to identify issues with regard to developmental skills necessary for school readiness, 31 surveillance, with close attention to these developmental skills necessary for school readiness, should be performed at the 4-or 5-year visit, with screening performed when concerns are noted. Additional information about the pediatrician's role in promoting school readiness, as well as developmental surveillance…”

“…33 Therefore, incorporation of surveillance for "red flags" into health supervision visits before formal screening at the 18-and 24month visits is recommended. 30 (Note: the USPSTF did not address high-risk individuals. )…”

“…The child with suspected global developmental delay or intellectual disability should have laboratory testing done, including chromosomal microarray and fragile X testing. 30 Metabolic testing should be considered if indicated by history and physical examination. 73 Further testing may be indicated when a diagnosis is not established with initial laboratory evaluation, including whole exome sequencing and gene panels.…”

“…The initial genetic workup of the child with suspected ASD is evolving; current recommendations also include chromosomal microarray and fragile X testing. 30 Consultation with a medical geneticist to help guide the genetic workup should be considered. The pediatric health care professional should make additional specialty referrals as needed or when additional testing is warranted.…”

Editorial: Secondary vs. Idiopathic Autism

“…Many additional cases have DNA sequence variants in genes whose pathology and function provide an uncertain contribution to ASD. These genetic modifications are described as variants with unknown significance (VUS) (12).…”