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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

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Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A

Daniela Chieffo1, Claudia Brogna1, Angela Berardinelli2

  • 1Department of Paediatric Neurology, Catholic University, Rome, Italy.

Plos One
|August 15, 2015
PubMed

Insights

Boys with Duchenne muscular dystrophy often show neurodevelopmental and cognitive delays. Early assessments correlate with later cognitive function, highlighting the importance of early intervention for Duchenne muscular dystrophy patients.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Boys with Duchenne muscular dystrophy (DMD) frequently experience neurodevelopmental and cognitive challenges.
  • Previous studies have not consistently assessed both early neurodevelopment and later cognitive function in the same DMD cohort.

Purpose of the Study:

  • To investigate the correlation between early neurodevelopmental assessments in preschool-aged boys with DMD and their cognitive performance at school age.
  • To determine if mutation site influences neurodevelopmental and cognitive outcomes in DMD.

Main Methods:

  • A longitudinal study assessed cognitive function in DMD boys at school age (mean 5.7 years) using Wechsler scales.
  • These boys were previously evaluated with Griffiths scales before age 4 (mean 30 months).
  • Mutation sites were analyzed for their impact on cognitive scores.

Main Results:

  • Significant correlation found between Griffiths Developmental Quotients (mean 89) and Wechsler Intelligence Quotients (mean 87) (P <0.0001).
  • Boys with mutations upstream of exon 44 showed different outcomes compared to those with mutations in exon 44-45 affecting Dp140 (p 0.01 and p 0.003).

Conclusions:

  • Duchenne muscular dystrophy boys tend to have slightly lower neurodevelopmental and cognitive scores.
  • Early neurodevelopmental assessments in DMD boys are predictive of later cognitive abilities.
  • Concordance exists between similar domains assessed by early and later scales in DMD patients.
Abstract

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