Hyman, S. L., Levy, S. E., & Myers, S. M. (2019). Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics, 145(1), doi:10.1542/peds.2019-3447
Chante Stoeckley, MEd, BCBA, LBA, Eilis O’Connell, MA, BCBA, and David Celiberti, PhD, BCBA-D
Association for Science in Autism Treatment
Pediatricians and other health professionals see almost all children regularly throughout their formative years; as such, if armed with good information about autism, they can make a tremendous difference in a child’s life. However, given the ever-evolving nature of scientific advances related to autism and the amount of other research a doctor must follow, a summary of the relevant literature could be valuable to busy doctors. Here, we review just such an article published by the American Academy of Pediatrics (2019), “Identification, Evaluation, and Management of Children with Autism Spectrum Disorders.” We highlight it because, in addition to being a good resource for the medical community, it has value for anyone wanting an overview of autism spectrum disorders. Furthermore, pediatricians follow children with autism for almost two decades so a foundation in evolving clinical presentations, diagnostic comorbidities, and preparation for adulthood is essential. After reading our review, if you would like all of the technical details, consider reviewing the original report available to the public here.
Section 1: Prevalence
The authors discuss the increasing prevalence of autism—most recently 1 in 59—and potential reasons for it. While the prevalence of autism is growing, the rates appear to be stabilizing somewhat, but more data are needed in order to confirm that. Autism is more likely to be diagnosed in white, non-Hispanic children than in African Americans or Hispanics, and higher socio-economic status and access to services are correlated with earlier diagnosis. Children with milder symptoms are likely to be diagnosed later, and it appears that some African American and Hispanic children with higher IQs are not being diagnosed. Like many other organizations, ASAT is concerned that diagnostic sensitivity varies widely with respect to race and ethnicity, leading to a large number of children with autism being overlooked. These findings are a call to action. There are present and significant implications for efforts needed in the areas of early detection and diagnosis; raising awareness and education for parents and pediatricians; as well as identifying the barriers that prevent or delay access to diagnosis and treatment.
Section 2: Clinical Symptoms
The authors describe the core deficits of ASD, diagnostic criteria, conditions that commonly occur with autism, and the prognosis. Despite having a neurological basis, autism is defined by the behavioral criteria of social communication deficits and restricted, repetitive behaviors. Earlier symptoms include deficits in understanding intent, using gestures, and making eye contact, while social communication and pretend play deficits appear later. The authors suggest that restricted, repetitive behaviors may be a primary “compulsion,” or may have other functions such as creating predictability. One quarter of children with ASD regress between the ages of 18-24 months, and while the reason for this is not yet known, one theory is that genes may cause the over-pruning of synapses in this period of critical neurological development.
The authors provide a helpful history of the diagnosis of autism. They explain the diagnostic criteria in the context of the changes in the Diagnostic and Statistical Manual of Mental Disorders (DSM), from the DSM-III (1980), when Infantile Autism was introduced; the DSM-IV (1994), which expanded it to a spectrum of Pervasive Developmental Disorders including Asperger, autism, and others; to the DSM-V (2013), which consolidated them into one diagnosis of Autism Spectrum Disorder. This last change occurred because the different subgroupings in the DSM-IV could not be diagnosed consistently in different locations. In the DSM-V, a measure of severity has been added to indicate how significantly the individual is impacted by autism and their level of need for services. The authors note that this measurement is likely to primarily reflect IQ and is not appropriate for measuring progress or change in autism symptoms, and that there is no current single assessment that can serve this purpose. For more information on the current diagnostic criteria, see this in-depth explanation of the DSM-V.
The prognosis for an individual with autism cannot be determined at the time of the diagnosis which, in our opinion, casts significant doubts on the relevance and utility of treatment rationing (i.e., intensity of treatment titrated to level of impairment such that those deemed to have a higher prognosis received greater intensity). By adulthood, 9% of those diagnosed with ASD will no longer meet the criteria, and those with higher cognitive skills, those who received early intervention, and those whose restricted, repetitive behaviors decreased over time are most likely to lose their diagnosis. Interestingly, the authors point out that while the outcomes are predicted by IQ and language skills, quality of life as an adult is influenced more by family and community support than by the symptoms of autism. This finding reminds us of the importance of building and strengthening post-secondary resources and opportunities and investing in families. As stated earlier, pediatricians are well positioned to play a supportive role in contributing to these outcomes given that their relationship with individuals with ASD and their families is so enduring over time.
Section 3: Screening and Diagnosis
The authors discuss the procedures and challenges in identifying an autism spectrum disorder. They recommend ongoing formal screens, in addition to informal “surveillance” at the ages of 18 and 24 months because physicians do not consistently identify ASD without a screening tool (potentially because symptoms can easily be missed during short office visits and parents might not share pertinent information). The M-CHAT (Modified Checklist of Autism in Toddlers) is the most common screening tool specific to ASD and can be used from as early as 12 months up until 30 months. For these reasons we actually link to this tool on ASAT’s website and also share this summary. At the youngest ages, the goal is early intervention for anyone who can benefit from it, regardless of an eventual diagnosis (please also see one of our articles related to work with children at this age). After 30 months, there is no formal screening tool, so observation during standard visits is recommended. The authors discuss numerous barriers to effective screening and timely diagnosis, including low rates of diagnosis for children with mild symptoms and for girls, the lack of screening tools for older children, and late diagnoses given to African American and Hispanic children. For more information about diagnosis, see this article.
After a child is considered at risk in the screening, they should be referred for diagnostic testing and services, providing parents support in this process as needed. A diagnosis is typically done by a specialist but may also be done by a general practitioner with appropriate expertise. Since short visits don’t provide the information necessary for a diagnosis, an interview, which may include standardized questionnaires (such as the Social Responsiveness Scale [SRS] or Autism Diagnostic Inventory- Revised [ADI-R]), is essential to gather a complete history of the child’s symptoms and functioning. A structured observation of the child is also beneficial and validated tools such as the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) can be combined with the history gathered from the interview to make a diagnosis. Autism may be accompanied by other co-occurring conditions, such as intellectual disabilities, that impact the symptoms of ASD, so the following additional assessments are recommended: cognitive testing, language testing, adaptive functioning assessment, motor assessment, and sensory assessments for hearing, vision, and sensory processing. ASAT recommends caution when utilizing standardized assessments such as these; a thorough discussion of some of the considerations are available here. In addition to such standardized assessments, ASAT notes that many providers will find that additional behavioral assessment data, interviews, and tools such as Verbal Behavior Milestones Assessment and Placement Program (VB-MAPPS) or the Assessment of Basic Language and Learning Skills – Revised (The ABLLS-R) provide additional data to guide initial treatment.
Section 4: Etiologic Evaluation
In section 4, Etiologic Evaluation, the authors recommend that after an autism diagnosis, additional medical testing may be used to identify other coexisting or causal medical conditions; although this practice is not well established or commonplace. The first step is a thorough medical and family history and a physical examination, looking for signs of a potential genetic problem such as Rett syndrome or Fragile X syndrome, and a referral for specific genetic testing if such a disorder is suspected. If the child has a developmental delay without a known cause, the next recommended step is chromosomal microarray (CMA), a genetic test that will identify any genes with deletions or duplications of DNA. This procedure identifies known gene errors in a small percentage of people with autism. Finally, if no cause has been identified, they recommend a form of genetic sequencing, whole-exome sequencing (WES). The reasons given to complete these additional procedures are that parents subjectively find them helpful, and that parents can be counseled on the likelihood that future offspring will develop the same disorder. Although genetic tests may help explain an underlying cause of a child’s ASD, they are not part of the diagnosis of ASD which is based on observable symptoms. Furthermore, in our view, understanding the etiology may not always have clear cut implications for treatment.
We will be publishing the second part of this review in the October 2020 issue of Science in Autism Treatment. In that issue, we will provide a synopsis of the remaining sections of American Academy of Pediatrics (2019), “Identification, Evaluation, and Management of Children with Autism Spectrum Disorders.” This will include Section 5 (Interventions), Section 6 (Working with Families), and Section 7 (Research and Service Needs).
The second part of this review appears here. In this second part, we will provide a synopsis of the remaining sections of American Academy of Pediatrics (2019), “Identification, Evaluation, and Management of Children with Autism Spectrum Disorders.” This includes Section 5 (Interventions), Section 6 (Working with Families), and Section 7 (Research and Service Needs).
Citation for this article:
Stoeckley, C., O’Connell, E., & Celiberti, D. (2020). Part 1 of a 2 part review of Identification, evaluation, and management of children with autism spectrum disorder. Science in Autism Treatment, 17(9).
