Clinical Report From the American Academy of Pediatrics

Recently, the American Academy of Pediatrics (AAP) published the paper “Identification, Evaluation, and Management of Children with Autism Spectrum Disorder,” which provides updates on statistics, diagnosis, genetic testing, and more for children with autism spectrum disorder (ASD).¹ Though this article is very broad with the goal of guiding pediatricians in caring for their patients with ASD, our intent is to highlight the genetic testing recommendations and benefits found in this article.

Recommendation: “Genetic evaluation should be recommended and offered to all families as part of the etiologic workup”¹

Etiologic workup refers to searching for the cause or origin, so in this case, looking at what factors might be causing or contributing to ASD
Genetic testing is not only for those with ASD plus other features (like intellectual disability and/or birth defects), but is now recommended by the AAP for those with ASD who do not have other features

A clinical diagnosis of ASD is made by a specialist who observes the child and asks him/her to play or perform child-friendly tasks to see if criteria for ASD is met. However, the AAP includes a whole section in the new publication that talks about identifying the underlying genetic cause of ASD by using genetic testing.

What are the potential benefits of identifying an underlying genetic cause for ASD? A genetic diagnosis can:

Give families a prognosis, or the expected development of a diagnosed condition over time
Tell families more about the recurrence risk, or the chance that another family member will have a child with the same condition
Alert families of other conditions (risk of seizures, heart defects, etc.) that are more likely to be present or develop later based on the specific genetic diagnosis
Help families avoid ineffective or potentially harmful treatments or interventions they would not otherwise expect (for example, children with a certain condition called Williams syndrome should avoid vitamin D since that can ultimately lead to a higher risk of seizures)
Help families access information through others in their same situation (support or advocacy groups) where details are shared on diagnosis-specific treatments and therapies, research opportunities, sibling workshops, parenting tips, and more
Help patients avoid additional tests that can be unnecessary and expensive

There are so many genetic tests to choose from, which one is best?

The AAP suggests the following for pediatricians to consider when looking for the right genetic test for your child with ASD:

1. Consider a referral for a pediatric genetics evaluation

Because such specialists are relatively rare, there is often a wait list of several months if not a year; therefore, the AAP is encouraging pediatricians to begin the testing process

2. Have a comprehensive family history taken along with a physical examination

If the doctor suspects a specific diagnosis after the history and physical, go back to step one to have a more targeted, specific genetic test ordered

3. Discuss and order chromosomal microarray (CMA) analysis

CMA is a genetic test that looks for deletions and duplications in our DNA. The AAP recommends CMA as the most appropriate initial test for determining the underlying genetic cause of ASD by the AAP; visit our homepage to order the Essential test, which is similar to CMA

4. Discuss and order fragile X analysis

Fragile X analysis can determine if a patient has fragile X Syndrome, which is caused by a mutation in the FMR1 gene and the most common cause of developmental delay and ASD that runs in families (especially in boys). Many people choose to test for fragile X Syndrome because a diagnosis is helpful for the patient’s medical management and the genetic testing relatively inexpensive

5. If these studies do not reveal an underlying genetic cause of ASD, consider a referral to a genetics clinic and whole exome sequencing (WES) testing

WES is a genetic test that looks for spelling changes in our DNA, instead of looking for large missing or extra pieces like the CMA test; visit our homepage to order the Advanced test, which is similar to a combination CMA and WES

Key Takeaways

Genetic testing is recommended for all children with ASD
Chromosomal microarray (deletion/duplication testing across the genome) is recommended as the initial genetic test for children with ASD unless a specific diagnosis is suspected
Fragile X testing is often recommended because it is important for medical management as well as family planning and is relatively inexpensive
Whole exome sequencing can be performed if chromosomal microarray testing does not find an underlying genetic cause
Finding the underlying genetic cause of ASD can be helpful for identifying the recurrence risk for couples, common co-occurring conditions to monitor, the expected development of the diagnosed condition over time, necessary services, and other important resources for patients with ASD and their families

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