The pediatrician's role in the diagnosis and management of autistic spectrum disorder in children

Primary care physicians have the opportunity, especially within the context of the medical home, to be the first point of contact when parents have concerns about their child’s development or behavior. The goal of this policy statement is to help the pediatrician recognize the early symptoms of autism and participate in its diagnosis and management. This statement and the accompanying technical report will serve to familiarize the pediatrician with currently accepted criteria defining the spectrum of autism, strategies used in making a diagnosis, and conventional and alternative interventions. ABBREVIATIONS. ASD, autistic spectrum disorder; PDD-NOS, pervasive developmental disorder-not otherwise specified; MMR, measles-mumps-rubella; DSM-IV, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; CHAT, Checklist for Autism in Toddlers. Autism is not a specific disease but rather a disorder of brain development with a strong genetic basis. Children with autism demonstrate behaviors and skills that span a broad continuum extending from very mild peculiarities to severe developmental challenges. It is now known to be a very heterogeneous disorder, with milder forms being more common than the classic form. Although clinical patterns vary depending on severity, all children with autism demonstrate some degree of qualitative impairment in reciprocal social interaction, qualitative impairment of communication, and restricted, repetitive, and stereotypic patterns of behaviors, interests, and activities.1 Because of qualitative and quantitative variations in symptoms, autism is often referred to as autistic spectrum disorder (ASD). 2–5 This term encompasses the classic autistic disorder and other pervasive developmental disorders. This statement focuses on autistic disorder and its milder variants, including Asperger syndrome and pervasive developmental disorder-not otherwise specified (PDD-NOS). Recent evidence that the prevalence of diagnosed ASD may be increasing and that early diagnosis and intervention are likely associated with better longterm outcomes6–15 has made it imperative that pediatricians increase their fund of knowledge regarding the disorder. Earlier studies estimated the prevalence of autism to be 4 to 5 in 10 000 persons.16 Most of the more recent studies have revealed that a conservative estimate is approximately 1 in 1000 children for autistic disorder and 2 or more in 1000 children for ASD.17,18 The majority of studies of autistic disorder conducted through 1998 showed a prevalence of less than 1 per 1000. There have been a few recent studies that have shown higher rates.19–23 These studies with higher rates have been in communities where intense case finding was used to try to identify every possibly affected child in the area. Currently, there are no data available for a large US population; however, even if the conservative rates apply, pediatricians can now expect to care for at least 1 child with ASD. The apparent increase may represent a combination of several factors, including changing criteria with inclusion of milder forms in the spectrum of autism, a higher public and professional recognition of the disorder, and a true rise in prevalence. Although a group of investigators in the United Kingdom24 has hypothesized that administration of measles-mumps-rubella (MMR) vaccine was associated with an increased risk of ASD, this hypothesis has not been substantiated by more in-depth research.25–30 In addition, it is imperative that health professionals and the public realize that congenital rubella can cause autism and that measles and mumps can cause significant disability, including encephalitis.31,32 STATEMENT OF THE PROBLEM The pediatrician is faced with the challenging task of suspecting an ASD diagnosis as early as possible and implementing a timely treatment plan to achieve the best outcome for the child and family. Early diagnosis of ASD is challenging in the context of primary care visits, because there is no pathognomonic sign or laboratory test to detect it. Thus, the physician must make the diagnosis on the basis of the presence or absence of a constellation of symptoms. ASD is a phenomenologic rather than an etiologic disorder (eg, trisomy 21 in Down syndrome), making the diagnosis more challenging. Pediatricians must rely on parent report, clinical judgment, and the ability to recognize criteria-based behaviors that define ASD. Pediatricians are now seeing more children with ASD in their offices; thus, they need to increase their fund of knowledge and comfort level in caring for these children. Families are calling on their pediatricians to guide them through the plethora of behavioral, educational, psychopharmacologic, and alternative treatment options available to them. Early The recommendations in this statement do not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate. PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad-