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Updated: Mar 17, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Mismatch Negativity Recording in Children With Duchenne Muscular Dystrophy: A Preliminary Study Integrating
Melissa Filippini1, Angelo Guerra2, Alessandra Negosanti2
1Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy melissa.filippini@libero.it.
Insights
This study investigated the neuropsychological profile of Duchenne muscular dystrophy (DMD) children, finding a heterogeneous profile not solely explained by phonological deficits. Cognitive impairments in memory and visuomotor skills were common in DMD patients.
Area of Science:
- Neuroscience
- Pediatrics
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is often associated with a specific neuropsychological phenotype.
- Previous research suggests phonological skills are primarily affected in children with DMD.
- This study aimed to further elucidate the role of phonological abilities in the DMD neuropsychological profile.
Purpose of the Study:
- To investigate the neuropsychological phenotype in children with Duchenne muscular dystrophy.
- To assess the role of phonological abilities in cognitive functioning in DMD.
- To identify specific cognitive deficits beyond phonological processing.
Main Methods:
- A prospective study comparing 14 DMD children with 7 healthy controls.
- Electrophysiological assessment using mismatch negativity (MMN).
- Comprehensive neuropsychological testing including verbal intelligence, memory, visuomotor skills, language, and academic abilities.
Main Results:
- No significant differences were found in mismatch negativity amplitude or latency between DMD and control groups.
- A significant proportion of DMD children (57.14%) exhibited impaired immediate verbal memory and visuomotor skills.
- Deficits in writing and arithmetic skills were observed in 63.64% of DMD patients, despite normal intelligence quotients.
Conclusions:
- The neuropsychological profile in Duchenne muscular dystrophy is heterogeneous.
- Phonological deficits do not fully explain the observed cognitive impairments in DMD.
- Further research is needed to understand the complex cognitive landscape of DMD.
Abstract:
Many studies on Duchenne muscular dystrophy children support the hypothesis of a specific neuropsychological phenotype affecting mostly phonological skills. This prospective study aimed to shed light on the role of phonological abilities. Fourteen Duchenne muscular dystrophy children and 7 healthy children underwent mismatch negativity. Moreover, verbal intelligence, visuospatial attention, immediate verbal memory, working memory, grammar, vocabulary, visuomotor skills, reading, text comprehension, writing, and arithmetic were tested in Duchenne muscular dystrophy children. No significant difference between control and Duchenne muscular dystrophy children was found neither for mismatch negativity amplitude (P = .191 and .116, respectively) nor for latency (P = .135). Eight (57.14%) patients showed an impairment of immediate verbal memory and of visuomotor skills, 7 (63.64%) patients had a deficit in writing and arithmetic skills, even with a mean normal intelligence quotient. Taken together, the results put in evidence a heterogeneous neuropsychological profile not explainable on the basis of a phonological deficit.
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