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Updated Guidance on Autism Spectrum Disorder

Author:
Brittany Perry, DO
Nemours/Alfred I. duPont Hospital for Children

Citation:
Perry B. Updated guidance on autism spectrum disorder [published online January 15, 2020]. Consultant360.

 

Hyman SL, Levy SE, Myers SM; Council on Children With Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447. https://doi.org/10.1542/peds.2019-3447.

 

Autism spectrum disorder (ASD) is a common developmental disorder that affects about 1 in 59 children. Primary care providers play a crucial role in early identification of ASD symptoms, referral for diagnostic evaluation and intervention, connecting families with resources in their communities, and managing coexisting medical conditions. In 2007, the American Academy of Pediatrics (AAP) published two clinical reports to assist primary care providers with identification, evaluation, and management of ASD in the medical home.1,2 An updated clinical report, “Identification, Evaluation, and Management of Children with Autism Spectrum Disorder” by Hyman and colleagues3 was published this month in Pediatrics, which includes the most current information for caring for children with ASD.

The guidance highlights the updated DSM-5 criteria for ASD, which characterizes the core symptoms into 2 domains: persistent deficits in social communication and the presence of restrictive and repetitive behaviors. Whereas the DSM-IV separated subgroups into autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), childhood disintegrative disorder, and Rett syndrome, the DSM-5 eliminated the subgroups and created one diagnosis, autism spectrum disorder. Furthermore, the DSM-5 includes a severity rating and course specifiers such as intellectual or language impairment, catatonia, and genetic or environmental factors.

The AAP recommends that all children be screened for ASD at the 18- and 24-month well visits using an autism-specific screening tool, in addition to routine developmental surveillance. Additional tools for screening children younger than 18 months are being studied. Barriers to screening are also described in the guidance. Once the risk for ASD is identified, prompt referral for both diagnostic evaluation and early intervention or school-based services is indicated.

Families of children with ASD often ask clinicians about prognosis. The guidance states that more than 80% of children who are diagnosed younger than 3 years of age following a comprehensive evaluation will retain their diagnosis, and 9% may no longer meet DSM-5 criteria as adults. Children with language impairment have more difficulty than children without language impairment. Intelligence and language ability tend to predict outcome.

Interventions result in improved outcomes and may include a combination of educational support, developmental therapies, and behavior intervention. The treatment model is individualized based on the child’s age and needs. The article describes behavioral interventions in detail including applied behavioral analysis, naturalistic developmental behavioral intervention, and parent-mediated strategies. Children with ASD may receive educational support with an Individualized Education Program (IEP) or Section 504 plan accommodations. They may also receive speech therapy, occupational therapy, and physical therapy to target specific developmental needs.

The guidance includes a detailed discussion of the genetics of ASD. Families should be counseled and offered genetic testing. Genetic testing includes Fragile X and chromosome microarray analysis, with consideration of MECP2 testing for Rett syndrome in girls. If initial testing is negative, consider a referral to a genetics counselor for further evaluation.

Neuroimaging is unlikely to identify an etiology of ASD and should only be considered if history and physical examination findings warrant imaging. Children with ASD may have an increased risk of seizures but routine electroencephalography is not indicated unless there is clinical concern. Routine metabolic testing and testing for heavy metals or other toxins is also not recommended.

The guideline discusses management of potential comorbidities in the setting of ASD that may be helpful for the primary care provider. Topics include seizures, sleep disturbances, gastrointestinal symptoms, feeding problems, obesity, motor disorders, dental health, wandering, attention deficit hyperactivity disorder, and other mood disorders. The guideline provides strategies for management in the primary care setting with referral to a subspecialist when appropriate. It also provides guidance for assisting adolescents with ASD with transition into adulthood.

In summary, this updated clinical guidance provides a comprehensive approach to caring for children with ASD in the medical home. Primary care providers play a significant role in the screening, identification, and management of children with ASD. For providers who would like to expand their knowledge about ASD, this article is an excellent resource.

 

References:

  1. Johnson CP, Myers SM; American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(5):1183-1215. https://doi.org/10.1542/peds.2007-2361.
  2. Myers SM, Johnson CP; American Academy of Pediatrics Council on Children With Disabilities. Management of children with autism spectrum disorders. Pediatrics. 2007;120(5):1162-1182. https://doi.org/10.1542/peds.2007-2362.
  3. Hyman SL, Levy SE, Myers SM; American Academy of Pediatrics Council on Children With Disabilities. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447. https://doi.org/10.1542/peds.2019-3447.