Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy.

Details

• Alternative Title:
  Neuropediatrics, 2026, v. 57, no. 3: Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy.
• Journal Article:
  Neuropediatrics
• Personal Author:
  He, Andrea ; Neyaz, Tahereh ; Bhandaru, Vinay ; Rice, Madeline ; Street, Natalie ; Mathews, Katherine ; Venkatesh, Yedatore Swamy ; Ciafaloni, Emma ; Howard, James ; Conway, Kristin M. ; Thangarajh, Mathula
• Corporate Authors:
  and the MD STARnet
• Description:
  Extant studies have shown that individuals with Duchenne muscular dystrophy (DMD) with distal
  
  variants have higher frequencies of co-occurring neurodevelopmental concerns, compared with those with proximal
  
  variants. Whether the reported co-occurrences between
  
  genotype and neurodevelopmental concerns in DMD are generalizable is not known. We therefore investigated the association between
  
  genotype and neurodevelopmental concerns in DMD using population-based surveillance data to improve the generalizability of knowledge and better inform clinical care.
  
  The population-based Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) data were used to investigate the neurodevelopmental concerns as a function of
  
  genotype in 325 individuals with DMD. Proximal
  
  variants were defined as those located 5' to
  
  exon 45, and distal
  
  variants as those located 3' of and including
  
  exon 45. Distal
  
  variants were further sub-classified into those with very distal variants in
  
  exons 63-79. Odds ratios and confidence intervals of speech/language delay, autism spectrum disorder, attention-deficit hyperactivity disorder, obsessive-compulsive disorder, cognitive dysfunction, intellectual disability, and global developmental delay between proximal
  
  distal
  
  variants were calculated.
  
  The odds ratios were highest for global developmental delay (17.09), multiple neurodevelopmental concerns (8.0), and intellectual disability (6.95) in those with
  
  variants in exons 63-79 compared with those with
  
  variants in exons 45-62. There were no statistically significant associations between the presence of neurodevelopmental concerns and proximal
  
  distal
  
  variant location.
  
  We did not find statistically significant associations between neurodevelopmental concerns and
  
  variant locations in population-level data, except for those with very distal
  
  mutations. The highest neurodevelopmental burden was among individuals with
  
  variants located in exons 63-79.
• Content Notes:
  Author manuscript
• Subjects:
  • Humans
  • Muscular Dystrophy, Duchenne
  • Male
  • Dystrophin
  • Genotype
  • Neurodevelopmental Disorders
  • Child
  • Child, Preschool
  • Adolescent
  • Female
  More +
• Keywords:
  • Duchenne muscular dystrophy
  • neurodevelopment
  • speech and language delay
  • attention-deficit hyperactivity disorder
  • MD STARnet
• Source:
  Neuropediatrics, 2026, v. 57, no. 3
• DOI:
  https://doi.org/10.1055/a-2818-7095
• ISSN:
  0174-304X ; 1439-1899
• Pubmed ID:
  41734790
• Pubmed Central ID:
  PMC13081602
• Document Type:
  Text
• Funding:
  DD001248/CC/CDC HHSUnited States/ ; DD001120/CC/CDC HHSUnited States/ ; DD001123/CC/CDC HHSUnited States/ ; U01 DD001116/DD/NCBDD CDC HHSUnited States/ ; DD001245/CC/CDC HHSUnited States/ ; U01 DD001120/DD/NCBDD CDC HHSUnited States/ ; DD001247/CC/CDC HHSUnited States/ ; U01 DD001255/DD/NCBDD CDC HHSUnited States/ ; U01 DD001117/DD/NCBDD CDC HHSUnited States/ ; U01 DD001126/DD/NCBDD CDC HHSUnited States/ ; DD001108/CC/CDC HHSUnited States/ ; K12TR004364/NH/NIH HHSUnited States/ ; DD001117/CC/CDC HHSUnited States/ ; U01 DD001123/DD/NCBDD CDC HHSUnited States/ ; DD001054/CC/CDC HHSUnited States/ ; U01 DD001245/DD/NCBDD CDC HHSUnited States/ ; DD001126/CC/CDC HHSUnited States/ ; DD001255/CC/CDC HHSUnited States/ ; R21TR004007/NH/NIH HHSUnited States/ ; DD001119/CC/CDC HHSUnited States/ ; U01 DD001242/DD/NCBDD CDC HHSUnited States/ ; U01 DD001247/DD/NCBDD CDC HHSUnited States/ ; DD001252/CC/CDC HHSUnited States/ ; DD001116/CC/CDC HHSUnited States/ ; U01 DD001119/DD/NCBDD CDC HHSUnited States/ ; U01 DD001108/DD/NCBDD CDC HHSUnited States/ ; U01 DD001248/DD/NCBDD CDC HHSUnited States/ ; U01 DD001054/DD/NCBDD CDC HHSUnited States/ ; DD001242/CC/CDC HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; 952826/Muscular Dystrophy Association/ ; U01 DD001252/DD/NCBDD CDC HHSUnited States/ ; R21TR004007/NH/NIH HHSUnited States/ ; K12TR004364/NH/NIH HHSUnited States/ ; DD001126/CC/CDC HHSUnited States/ ; DD001119/CC/CDC HHSUnited States/ ; DD001123/CC/CDC HHSUnited States/ ; DD001116/CC/CDC HHSUnited States/ ; DD001117/CC/CDC HHSUnited States/ ; DD001108/CC/CDC HHSUnited States/ ; DD001120/CC/CDC HHSUnited States/ ; DD001054/CC/CDC HHSUnited States/ ; DD001242/CC/CDC HHSUnited States/ ; DD001245/CC/CDC HHSUnited States/ ; DD001247/CC/CDC HHSUnited States/ ; DD001248/CC/CDC HHSUnited States/ ; DD001252/CC/CDC HHSUnited States/ ; DD001255/CC/CDC HHSUnited States/
• Genre:
  Journal Article
• Pages in Document:
  193-199 (14 pdf pages)
• Volume:
  57
• Issue:
  3
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:11cd81d174e469c4cb8684f17d963aa76d22137bd44797bc101080ccf20317c9c85afcec2a24fef561f4c1c33b9c76ab1b8e3bdd35f3dd56f7b03a3c60cff42a