Highlights
- •Neurodevelopmental features in Duchenne muscular dystrophy with battery of tests.
- •Low Raven Colored Progressive Matrices score for DMD exon 45 or downstream mutation.
- •PARS-TR showed improved stereotactic and restricted interests behavior with age.
Abstract
Objective
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.
Methods
This cross-sectional study included 55 Japanese boys with genetically confirmed DMD
who visited the outpatient department of the National Center for Psychiatry and Neurology
of Japan from October 2017 to April 2018. Neurodevelopmental manifestations were evaluated
using the Raven's Colored Progressive Matrices (RCPM), the Parent-Interview Autism
Spectrum Disorder Rating Scale–Text Revision (PARS–TR), and the Attention-Deficit
Hyperactivity Disorder–Rating Scale.
Results
Among the 55 boys (mean [standard deviation, SD] age, 9.5 [1.6] years), 24 (43.6%)
scored below −2.0 SD in RCPM, indicating intellectual disability. Further, 83% had
DMD variants in exon 45 or downstream to it (P = 0.005). On the PARS–TR, 30 (55%) and 21 boys (38%) scored higher than the clinical
cutoff score in childhood and present scores, respectively. Stereotyped behavior and
restricted interests scores were found to decrease with age (P = 0.003 and P = 0.01, respectively).
Discussion
The results show that boys with DMD who have intellectual disability commonly have
DMD variants in exon 45 or downstream to it. Stereotyped behavior and restricted interests
improved with age, while intellectual disability did not.
Conclusion
Understanding these characteristics of neurodevelopmental disability may reduce risky
behaviors and improve the overall quality of life of patients with DMD.
Keywords
Abbreviations:
RCPM (Raven's Colored Progressive Matrices), PARS–TR (Parent-Interview ASD Rating Scale–Text Revision), ADHD–RS (Attention-Deficit Hyperactivity Disorder–Rating Scale), DMD (Duchenne Muscular Dystrophy), ASD (Autism Spectrum Disorder), CNS (Central Nervous System), PSL (Prednisolone), WISC–IV (Wechsler Intelligence Scale for Children–IV)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: July 13, 2022
Accepted:
July 10,
2022
Received in revised form:
July 7,
2022
Received:
May 12,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
