A research team has confirmed that a battery of several simple neurophysiological function tests was able to determine the prevalence and characteristics of neurodevelopmental disability in boys with Duchenne muscular dystrophy (DMD).

The study, published in the Journal of the Neurological Sciences, determined that the boys who had variants in the DMD gene in exon 45 or downstream had greater neurodevelopmental disability than those with variants upstream of exon 45.

“We report neurodevelopmental manifestations in boys with Duchenne muscular dystrophy (DMD) and evaluate the correlations between mutation location and three neurodevelopmental abnormalities: intellectual disability, autism spectrum disorder, and attentional problems,” the authors wrote. “Understanding these characteristics of neurodevelopmental disability may reduce risky behaviors and improve the overall quality of life of patients with DMD.”

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The research team used several alternative, convenient outpatient neurophysiological function tests to evaluate 55 Japanese boys with genetically confirmed DMD at a single center between October 2017 and April 2018. Raven’s Colored Progressive Matrices, the Parent-Interview Autism Spectrum Disorder Rating Scale–Text Revision, and the Attention-Deficit Hyperactivity Disorder–Rating Scale were all employed to determine neurodevelopmental status.

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The aim was to assess the correlation between genotype and neuropsychological phenotype as well as the usefulness of this test series.

The results showed that 44% of the boys in the cohort had intellectual disabilities and 83% of the boys with intellectual disabilities had DMD variants in exon 45 or downstream. Behavioral impairments improved with age, but intellectual disability did not.

The authors note that these convenient outpatient tests provide useful insight into neurodevelopmental characteristics in patients with DMD and can help clinicians and caregivers plan appropriate interventions and guide treatment decisions.


Saito Y, Takeshita E, Komaki H, Nishino I, Sasaki M. Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests. J Neurol Sci. Published online July 13, 2022. doi:10.1016/j.jns.2022.120340