Recently, the American Academy of Pediatrics (AAP) refreshed its guidelines for assessing children with global developmental delay (GDD) or intellectual disability (ID), conditions that affect between 1% and 3% of kids worldwide. This new guidance underscores the growing importance of early and thorough genetic testing in these evaluations.
Studies show that genetic factors explain up to half of diagnosed cases. With that in mind, the AAP suggests a stepwise approach beginning with genome or exome sequencing, along with chromosomal microarray analysis. This helps avoid unnecessary tests while improving the chances of tracking down underlying causes. Pediatricians are urged to start with detailed clinical investigations, including developmental histories, family medical backgrounds, complete physical exams, and attention to neurological signs, plus hearing and vision checks. Genetic testing should jump in promptly when those initial steps do not yield clear answers.
Why Early Diagnosis Matters and Challenges in Access
Getting an accurate genetic diagnosis early makes a real difference. According to pediatric geneticist Dr. Susan Howell, speaking to Contemporary Pediatrics, “A timely genetic diagnosis can open up options for targeted treatments, clinical studies, and personalized support.” Furthermore, knowing the genetic basis can help families make informed choices about future pregnancies.
Despite its benefits, many children (especially those covered by Medicaid) miss out on recommended genetic testing. Barriers such as limited access or low awareness among providers contribute to this gap. Howell points out, “There is a clear disconnect between what guidelines recommend and what happens in day-to-day practice. Solving this will take better education and policy action.”
The Role of Supportive Counseling
Genetic testing can reveal complicated or unexpected results, such as unclear variants or incidental findings that do not relate to the child’s current condition. That is why the AAP stresses the importance of counseling before and after tests, to help families understand and cope with these complex outcomes.
This updated framework arms general pediatricians with straightforward steps while recognizing specialists’ ongoing role for more involved cases. It aims to accelerate precise diagnoses which, in turn, improve care quality for children facing developmental challenges.
What This Means for Our Community
For readers here at Spectrum Astrolabe who appreciate the nuances of neurodiversity, this development represents a meaningful advance. Early, genetics-informed understanding can support better interventions while respecting the wide range of experiences families have.
As genetics becomes more integrated into pediatric care, families dealing with developmental differences stand to gain quicker answers and stronger support. Isn’t this what we all want?
Sources
- American Academy of Pediatrics. (2025, June). Genetic evaluation of the child with intellectual disability or global developmental delay. Pediatrics.
- McCoy, C. (2025, July). AAP updates guidance on genetic testing for developmental delay. Contemporary Pediatrics.
- Disability Scoop. (2025, July 14). Pediatricians get updated guidance on diagnosing developmental disabilities. Retrieved from https://www.disabilityscoop.com/2025/07/14/pediatricians-get-updated-guidance-on-diagnosing-developmental-disabilities/31535/
- GeneDx. (2025, June). GeneDx applauds AAP recommendations on exome and genome sequencing as first-tier diagnostics. [Press release].
- HealthDay News. (2025). Low rates of clinical genetic testing among neurodevelopmental disability patients. Drugs.com.
- Psychiatry Advisor. (2025). Underutilization of genetic testing for neurodevelopmental disorders.
- Baylor Genetics. (2025, June). Baylor Genetics welcomes new AAP guidelines. [Corporate news release].
- EMPR. (2025, June). Monthly Prescribing Reference covers new AAP tiered approach to genetic testing.
- AAP News. (2025, June). AAP report: Steps for evaluating global developmental delay in children.
