1 Autism Spectrum Disorder INTRODUCTION by Paul S Carbone, MD, FAAP Chairperson, AAP Council on Children With Disabilities Autism Subcommittee Professor, Division of General Pediatrics, University of Utah, Salt Lake City, UT During my residency training in the mid-1990s, I don’t recall receiving specific training about caring for children with autism spectrum disorder (ASD). The prevalence of ASD in the 1980s and early 1990s in the US was believed to be no more than 1 in 1,000 children, so perhaps the omission wasn’t surprising. As I look back on my residency and subsequent career as a general pediatrician, I can recall many children for whom I cared who likely had ASD but weren’t diagnosed as such at the time. They carried diagnoses like “static encephalopathy,” ADHD, anxiety, intellectual disability, or learning disability. These visits were filled with confusion from both the parent and myself as we together tried to figure out why toilet training was not progressing, or why the ADHD medication was not helping, or why the child was having such difficulty making friends and fitting in. In the late 1990s a group of parents in the Brick Township of New Jersey thought they were seeing more ASD in their community than would be expected, prompting the Centers for Disease Control and Prevention (CDC) to investigate. What was reported was not a prevalence of 1 in 1,000, but 1 in 150.1 What was happening? In order to better understand the scope of ASD throughout the US, the CDC established the Autism and Developmental Disabilities Monitoring (ADDM) Network in 2000, which subsequently reported a similar prevalence of ASD within 6 communities across the US.2 Thus, by the mid-2000s, ASD was identified as a common neurodevelopmental disability, and a new era of ASD awareness and research had begun. Over the last 15 years the progress has been dizzying. Through advances in genetics and genomics, more than 100 genes and genomic regions have been confidently associated with ASD, with new ASD risk genes being identified regularly.3 While these discoveries may someday usher in new therapies within the area of personalized med- icine, what are we as pediatricians to do to support individuals with ASD and their families today? The answer is: plenty. Pediatric Collections: Autism Spectrum Disorder, assembled by members of the AAP Council on Children with Disabilities Autism Subcommittee, consists of important studies, expert recommendations, and practice pathways that inform pediatricians on practical ways to improve the lives of children with ASD and their families. The first title in the collection is the latest AAP Clinical Report, which provides a comprehensive overview of the identification and ongoing care of children with ASD. There are helpful sections covering early signs, recent changes to diagnostic criteria, recommended genetic testing, evi- dence-based interventions, and co-occurring conditions. While reading this collection start to finish is a noble endeavor, I recommend keeping a copy close at hand to refer to before and after clinic visits, as it will prove to be a valuable asset over time. We also have chosen to highlight ASD prevalence with a study that examined a recent National Survey of Children’s Health. Beyond parent-reported prevalence data, this study highlights healthcare utilization, unmet health care needs, and co-occurring conditions that inform pediatricians and policy makers about the need for comprehensive and coordinated community-based systems of care. The section on surveillance and screening gets to the heart of one of the pediatrician’s most important roles: early identification. Why not just wait and see when parents raise developmen- tal concerns or when an ASD screener is positive? Because recent research, reviewed by Dr Lonnie Zwaigenbaum and colleagues within the collection, has demonstrated that ASD-specific interven- tions for young children under the age of 3 years have clear benefits on a range of developmental outcomes. While a practice guideline within the section highlights the clear benefit of careful
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