Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

ABSTRACT:

Purpose

We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods

Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion (n = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Results

Outcomes were recorded for 4237 diagnosed probands (85% of those eligible) from all 24 recruiting centers across the United Kingdom and Ireland. Clinical management was reported to have changed in 28% of affected individuals. Where individual-level inte

SUBMITTER: Copeland H 

PROVIDER: S-EPMC11736166 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature