AAP Offers Guidance for Genetic Evaluation of Neurodevelopmental Disorders

MONDAY, June 30, 2025 (HealthDay News) — In a clinical report issued by the American Academy of Pediatrics and published online June 23 in Pediatrics, guidance is provided for the pediatrician regarding the genetic evaluation of developmental delay/intellectual disability.

Lance H. Rodan, M.D., from Boston Children”s Hospital, and colleagues note that genetic testing should be selected by phenotype when possible. If medical history, family history, clinical examination, and corollary testing do not lead to a suspected diagnosis, an agnostic or “hypothesis-free” approach is proposed. This approach considers diagnostic yield, test cost and complexity, and potential impact of the results.

A tiered agnostic approach is proposed based on diagnostic yield and practical considerations: Tier 1: genome or exome sequencing and chromosome microarray; Tier 2: Fragile X testing and metabolic testing for inborn errors of metabolism; Tier 3: testing aimed at identifying genetic etiologies that may have been missed in the first two tiers, including consideration of an imprinting disorder, trinucleotide disorders, mitochondrial DNA testing, karyotype evaluation for balanced chromosome rearrangements, and broad screening for intragenic deletions/duplications that may have been missed.

“Genetic neurodevelopmental disorders are common in the pediatric population, and it is vital for the general pediatrician to have an approach for their initial evaluation,” the authors write. “Establishing a genetic diagnosis early provides multiple benefits.”

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