Research & Studies

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report

Published July 2025
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Plain-Language Summary

AAP now recommends genome/exome testing as Tier 1 priority for intellectual disability — a major development for FOXP1 diagnosis.

In June 2025, the American Academy of Pediatrics (AAP) updated their recommendations regarding genetic testing. Importantly, the APP now recommends genome/exome testing as a “Tier 1” priority to facilitate diagnosis where patients presenting with intellectual disability or global developmental delay cannot be conclusively diagnosed on the basis of medical history, family history, clinical examination, or other direct assessments. To date, most individuals with FOXP1 syndrome have been identified by whole exome sequencing (WES). Although a 2025 census of the known FOXP1 population resulted in a count of approximately 650 individuals, the global population is believed to be much larger. Any policy change that enables broader, earlier genome or exome sequencing will likely result in the identification of many more individuals with FOXP1 syndrome. As such, this update by the AAP represents an important development for the FOXP1 community and many other similar communities supporting individuals with developmental disabilities.

Published
Published July 2025
Authors

Lance H. Rodan, MD; Joan Stoler, MD, FAAP; Emily Chen, MD, PhD; Timothy Geleske, MD, FAAP;, the Council on Genetics