Journal article
Population-based investigation of DMD genotype and neurodevelopmental concerns in Duchenne Muscular Dystrophy
Neuropediatrics
02/24/2026
DOI: 10.1055/a-2818-7095
PMCID: PMC13081602
PMID: 41734790
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.
Details
- Title: Subtitle
- Population-based investigation of DMD genotype and neurodevelopmental concerns in Duchenne Muscular Dystrophy
- Creators
- Andrea He - Virginia Commonwealth UniversityTahereh Neyaz - University of IowaVinay Bhandaru - Milken InstituteMadeline Rice - Milken InstituteNatalie Street - National Center on Birth Defects and Developmental DisabilitiesKatherine Mathews - University of IowaYedatore Swamy Venkatesh - University of South CarolinaEmma Ciafaloni - University of Rochester Medical CenterJames Howard - University of North Carolina at CharlotteKristin Conway - University of IowaMathula Thangarajh - Virginia Commonwealth University Medical Center
- Resource Type
- Journal article
- Publication Details
- Neuropediatrics
- DOI
- 10.1055/a-2818-7095
- PMID
- 41734790
- PMCID
- PMC13081602
- NLM abbreviation
- Neuropediatrics
- ISSN
- 1439-1899
- eISSN
- 1439-1899
- Publisher
- Thieme
- Grant note
- Centers for Disease Control and Prevention: DD001126 National Institutes of Health: R21TR004007 Muscular Dystrophy Association: 952826
Dr. Thangarajh reports research grant support from Muscular Dystrophy Association (Award Number 952826) and the National Institutes of Health (R21TR004007, K12TR004364) as well as consulting fees from NS Pharma, Biogen, Catalyst, and PTC Therapeutics. None of the other authors have any financial disclosures to report. This publication was supported by the Cooperative Agreement numbers, DD001126, DD001119, DD001123, DD001116, DD001117, DD001108, DD001120, DD001054, DD001242, DD001245, DD001247, DD001248, DD001252, DD001255 funded by the Centers for Disease Control and Prevention.
- Language
- English
- Electronic publication date
- 02/24/2026
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9985139317602771
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