Autism spectrum disorders and others neuropsychiatric conditions in Duchenne muscular dystrophy

*Correspondence: [e-mail].

Abstract

Background: Duchenne muscular dystrophy (DMD) is not just a muscle disorder, but also a disease that affects the brain. The literature shows that about 30-40% of DMD subjects have intellectual disability, however the real prevalence and intensity of Autism Spectrum Disorders (ASD) and other neuropsychiatric disorders is not completely elucidated.

Objective: Investigate the prevalence of Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD) and Oppositional Defiant Disorder (ODD) in patients with DMD and explore underlying genotype-phenotype associations.

Methods: A retrospective study based on the analysis medical records and genetic results of 148 DMD cases followed at the neuromuscular outpatient clinic in Brazil. The following parameters were analyzed: Age, type and location of genetic mutation and presence of neuropsychiatric disorders.

Results: The mean age ranged from 1 to 23 years. In 9/148 (6.1%) Autism Spectrum Disorder was identified, in 13/148 (8.8%) attention deficit hyperactivity disorder (ADHD) and 2/148 (1.3%) oppositional defiant disorder (ODD) was found. In addition, 5/9 patients with ASD have mutations localized between exons 45 and 75 (55%) and 7/13 patients with ADHD have mutations localized between exons 45 and 75 (53%).

Conclusion: Previous studies have shown a prevalence of 6 to 20% of ASD and ADHD in dystrophinopathies similar to the current study. The short brain-expressed isoforms, Dp140 and Dp71, have been more associated with neurocognitive phenotype. In our study, the presence of ASD or ADHD was found when mutations are localized at the end of the DMD gene. Moreover, in some ASD patients, atypical behaviors were more important than muscular weakness. It is important for clinical practice to consider this association, in order not to delay the diagnosis of DMD.

Publication History

Article published online:
12 May 2025