AAP Offers Guidance for Genetic Evaluation of Neurodevelopmental Disorders

Follow Drugslib on

By Elana Gotkine HealthDay Reporter

Medically reviewed by Carmen Pope, BPharm. Last updated on June 30, 2025.

via HealthDay

MONDAY, June 30, 2025 -- 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."

Abstract/Full Text

Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.

Source: HealthDay

Posted : 2025-07-01 06:00

Read more

Disclaimer

Every effort has been made to ensure that the information provided by Drugslib.com is accurate, up-to-date, and complete, but no guarantee is made to that effect. Drug information contained herein may be time sensitive. Drugslib.com information has been compiled for use by healthcare practitioners and consumers in the United States and therefore Drugslib.com does not warrant that uses outside of the United States are appropriate, unless specifically indicated otherwise. Drugslib.com's drug information does not endorse drugs, diagnose patients or recommend therapy. Drugslib.com's drug information is an informational resource designed to assist licensed healthcare practitioners in caring for their patients and/or to serve consumers viewing this service as a supplement to, and not a substitute for, the expertise, skill, knowledge and judgment of healthcare practitioners.

The absence of a warning for a given drug or drug combination in no way should be construed to indicate that the drug or drug combination is safe, effective or appropriate for any given patient. Drugslib.com does not assume any responsibility for any aspect of healthcare administered with the aid of information Drugslib.com provides. The information contained herein is not intended to cover all possible uses, directions, precautions, warnings, drug interactions, allergic reactions, or adverse effects. If you have questions about the drugs you are taking, check with your doctor, nurse or pharmacist.

Popular Keywords