Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies.

ABSTRACT:

Objective

Neurodevelopmental disorders are frequently and heterogeneously diagnosed among patients with dystrophinopathies. The authors aimed to evaluate how the symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD), Obsessive-Compulsive Disorder (OCD), or Autism Spectrum Disorder (ASD), and genotype are related to DMD genotype.

Methods

In an observational cross-sectional study, standardized instruments were applied to 50 participants and their caregivers, mainly from a reference center for rare diseases in Southern Brazil (n = 38) or other Brazilian centers (n = 12). Participants were divided according to genotype and affected dystrophin isoforms.

Results

The overall diagnostic rate of symptoms of ASD was 34 %, similar to OCD (35.5 %), with half of the particip

SUBMITTER: Soares FM 

PROVIDER: S-EPMC12276596 | biostudies-literature | 2025 Jul-Aug

REPOSITORIES: biostudies-literature