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Whether the reported co-occurrences between DMD genotype and neurodevelopmental concerns in DMD are generalizable is not known. We therefore investigated the association between DMD genotype and neurodevelopmental concerns in DMD using population-based surveillance data to improve the generalizability of knowledge and better inform clinical care.<\/jats:p>\n                  <jats:p>The population-based Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) data were used to investigate the neurodevelopmental concerns as a function of DMD genotype in 325 individuals with DMD. Proximal DMD variants were defined as those located 5\u2032 to DMD exon 45, and distal DMD variants as those located 3\u2032 of and including DMD exon 45. Distal DMD variants were further sub-classified into those with very distal variants in DMD exons 63\u201379. 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 versus distal DMD variants were calculated.<\/jats:p>\n                  <jats:p>The odds ratios 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\u201379 compared with those with DMD variants in exons 45\u201362. There were no statistically significant associations between the presence of neurodevelopmental concerns and proximal versus distal DMD variant location.<\/jats:p>\n                  <jats:p>We did not find statistically significant associations between neurodevelopmental concerns and DMD variant locations in population-level data, except for those with very distal DMD mutations. The highest neurodevelopmental burden was among individuals with DMD variants located in exons 63\u201379.<\/jats:p>","DOI":"10.1055\/a-2818-7095","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T23:54:26Z","timestamp":1771977266000},"page":"193-199","source":"Crossref","is-referenced-by-count":0,"title":["Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy"],"prefix":"10.1055","volume":"57","author":[{"given":"Andrea","family":"He","sequence":"additional","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University Medical Center, Richmond, Virginia, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahereh","family":"Neyaz","sequence":"additional","affiliation":[{"name":"College of Public Health, University of Iowa, Iowa City, Iowa, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinay","family":"Bhandaru","sequence":"additional","affiliation":[{"name":"Milken School of Public Health, George Washington University Biostatistics Center, Washington, District of Columbia, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline","family":"Rice","sequence":"additional","affiliation":[{"name":"Milken School of Public Health, George Washington University Biostatistics Center, Washington, District of Columbia, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Street","sequence":"additional","affiliation":[{"name":"Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Mathews","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yedatore Swamy","family":"Venkatesh","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of South Carolina School of Medicine, Columbia, South Carolina, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester, Rochester, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Howard","sequence":"additional","affiliation":[{"name":"Department of Neurology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8633-966X","authenticated-orcid":false,"given":"Kristin M.","family":"Conway","sequence":"additional","affiliation":[{"name":"College of Public Health, University of Iowa, Iowa City, Iowa, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9811-0838","authenticated-orcid":false,"given":"Mathula","family":"Thangarajh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University Medical Center, Richmond, Virginia, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the MD STARnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1212\/CON.0000000000000791","article-title":"The dystrophinopathies","volume":"25","author":"M Thangarajh","year":"2019","journal-title":"Continuum (Minneap 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Felisari","year":"2000","journal-title":"Neurology"},{"issue":"03","key":"ref15","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/S0960-8966(99)00108-X","article-title":"Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies","volume":"10","author":"A Bardoni","year":"2000","journal-title":"Neuromuscul Disord"},{"issue":"07","key":"ref16","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/sj.ejhg.5200488","article-title":"Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening","volume":"8","author":"M P Moizard","year":"2000","journal-title":"Eur J Hum Genet"},{"issue":"20","key":"ref17","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddp320","article-title":"Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 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Chesshyre","year":"2022","journal-title":"J Cachexia Sarcopenia Muscle"},{"issue":"06","key":"ref21","doi-asserted-by":"crossref","first-page":"757","DOI":"10.3233\/JND-220821","article-title":"Associations between self-reported behavioral and learning concerns and DMD isoforms in Duchenne muscular dystrophy","volume":"9","author":"K J Counterman","year":"2022","journal-title":"J Neuromuscul Dis"},{"issue":"01","key":"ref22","doi-asserted-by":"crossref","first-page":"e8803","DOI":"10.1371\/journal.pone.0008803","article-title":"Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy","volume":"5","author":"P J Taylor","year":"2010","journal-title":"PLoS One"},{"issue":"01","key":"ref23","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1038\/s41467-025-56644-w","article-title":"Duchenne muscular dystrophy: recent insights in brain related comorbidities","volume":"16","author":"C Vaillend","year":"2025","journal-title":"Nat 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Genet"},{"issue":"01","key":"ref33","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1159\/000512647","article-title":"Duchenne and Becker muscular dystrophies' prevalence in MD STARnet surveillance sites: an examination of racial and ethnic differences","volume":"55","author":"Y Zhang","year":"2021","journal-title":"Neuroepidemiology"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.nmd.2022.10.002","article-title":"Dystrophinopathy and the brain: a parent project muscular dystrophy (PPMD) meeting report November 11-12, 2021, New York City, NY","volume":"32","author":"M K Colvin","year":"2022","journal-title":"Neuromuscul Disord"},{"issue":"03","key":"ref35","first-page":"212","article-title":"An integrative review exploring psycho-social impacts and therapeutic interventions for parent caregivers of young people living with Duchenne's muscular dystrophy","volume":"8","author":"D Porteous","year":"2021","journal-title":"Children (Basel)"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2818-7095.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:39:17Z","timestamp":1780526357000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2818-7095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,24]]},"references-count":35,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2026,6,3]]},"published-print":{"date-parts":[[2026,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2818-7095","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,2,24]]},"published":{"date-parts":[[2026,2,24]]}}}