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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
09:18

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype

Marika Pane1, Maria Elena Lombardo, Paolo Alfieri

  • 1Department of Pediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy.

The Journal of Pediatrics
|May 8, 2012
PubMed

Insights

Attention deficit hyperactivity disorder (ADHD) is common in boys with Duchenne muscular dystrophy (DMD). Specific genetic mutations linked to brain dystrophin isoforms increase ADHD risk in these patients.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder primarily affecting muscles.
  • Cognitive impairments and behavioral issues, including ADHD, are increasingly recognized in DMD patients.
  • Understanding the prevalence and genetic correlates of ADHD in DMD is crucial for comprehensive care.

Purpose of the Study:

  • To determine the frequency of attention deficit hyperactivity disorder (ADHD) in boys with Duchenne muscular dystrophy (DMD).
  • To investigate the association between ADHD, cognitive abilities, and specific genetic mutations in DMD.
  • To explore the relationship between genetic findings and the risk of ADHD in DMD.

Main Methods:

  • 103 boys with DMD (ages 4-17) were evaluated.
  • Cognitive function was assessed using Wechsler scales.
  • ADHD diagnosis utilized DSM-IV-TR criteria and Conners Rating Scales.

Main Results:

  • ADHD was diagnosed in 33 out of 103 DMD boys.
  • Intellectual disability (ID) was present in 24.6% of patients.
  • ADHD was more common with mutations affecting brain-specific dystrophin isoforms (Dp140, Dp71).

Conclusions:

  • ADHD is a frequent comorbidity in Duchenne muscular dystrophy.
  • Mutations impacting brain dystrophin expression are associated with a higher risk of ADHD in DMD.
  • These findings highlight the importance of screening for ADHD and cognitive issues in DMD.
Abstract

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