Population-based investigation of DMD genotype and neurodevelopmental concerns in Duchenne Muscular Dystrophy

Authors

• Andrea He, Department of Neurology, Virginia Commonwealth University Medical Center, Richmond, United States.
• Tahereh Neyaz, College of Public Health, University of Iowa, Iowa City, United States.
• Vinay Bhandaru, Milken School of Public Health, George Washington University Biostatistics Center, Washington, D.C, United States.
• Madeline Rice, Milken School of Public Health, George Washington University Biostatistics Center, Washington, D.C, United States.
• Natalie Street, Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, United States.
• Katherine Mathews, University of Iowa, Iowa City, United States.
• Yedatore Swamy Venkatesh, Department of Neurology, University of South Carolina, Columbia, United States.
• Emma Ciafaloni, University of Rochester Medical Center, Rochester, United States.
• James Howard, Department of Neurology, The University of North Carolina at, Charlotte, United States.
• Kristin Conway, College of Public Health, University of Iowa, Iowa City, United States.
• Mathula Thangarajh, Department of Neurology, Virginia Commonwealth University Medical Center, Richmond, United States.

Document Type

Journal Article

Publication Date

2-24-2026

Journal

Neuropediatrics

DOI

10.1055/a-2818-7095

Abstract

BackgroundStudies have shown that individuals with Duchenne Muscular Dystrophy (DMD) with distal DMD variants have higher frequencies of co-occurring neurodevelopmental concerns than those with proximal DMD variants. Whether these associations are generalizable is not known. We investigated the association between DMD genotype and neurodevelopmental concerns in DMD using population-based surveillance data to improve generalizability and better inform clinical care.MethodsMuscularDystrophy Surveillance, Tracking and Research Network (MD STARnet) data was used to investigate neurodevelopmental concerns as a function of DMD genotype in individuals with DMD. Proximal DMD variants were defined as those located 5' to DMD exon 45, and distal DMD variants as those located 3' of and including DMD exon 45. Distal DMD variants were further sub-classified into those with very distal variants in DMD exons 63-79. Odds ratios (ORs) and confidence intervals (CIs) of speech/language delay, autism spectrum disorder, attention-deficit hyperactivity disorder, obsessive-compulsive disorder, cognitive dysfunction, intellectual disability, and global developmental delay between proximal versus distal variants were calculated.ResultsORs were highest for global developmental delay (17.09), multiple neurodevelopmental concerns (8.0), and intellectual disability (6.95) in those with DMD variants in exons 63-79 compared to those with DMD variants in exons 45-62. There were no statistically significant associations between presence of neurodevelopmental concerns and proximal versus distal variant location.ConclusionsPopulation-level data did not show statistically significant associations between neurodevelopmental concerns and DMD variant locations, except in individuals with very distal mutations. The highest neurodevelopmental burden was among individuals with DMD variants in exons 63-79.

APA Citation

He, Andrea; Neyaz, Tahereh; Bhandaru, Vinay; Rice, Madeline; Street, Natalie; Mathews, Katherine; Swamy Venkatesh, Yedatore; Ciafaloni, Emma; Howard, James; Conway, Kristin; and Thangarajh, Mathula, "Population-based investigation of DMD genotype and neurodevelopmental concerns in Duchenne Muscular Dystrophy" (2026). GW Authored Works. Paper 8675.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/8675

Department

Epidemiology