{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:22:57Z","timestamp":1787588577777,"version":"build-2736575974"},"reference-count":24,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T00:00:00Z","timestamp":1667174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Indonesia"},{"name":"3billion, Inc"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Introductions<\/jats:title>\n<jats:p>Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the <jats:italic>DMD<\/jats:italic> gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients\u2019 quality of life and their family. The changes of expression of dystrophin isoforms in the brain due to <jats:italic>DMD<\/jats:italic> gene mutations are thought to be related to the cognitive and neurobehavior profiles of DMD.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Objectives<\/jats:title>\n<jats:p>This cross-sectional study aimed to characterize cognitive and neurodevelopmental profiles of patients with DMD and to explore underlying genotype-phenotype associations.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Methods<\/jats:title>\n<jats:p>Patients with DMD aged 5\u201318 years from Dr Sardjito Hospital and Universitas Gadjah Mada Academic Hospital from 2017\u20132022 were included. Multiplex ligation-dependent probe amplification and whole exome sequencing were used to determine mutations in the <jats:italic>DMD<\/jats:italic> genes. Cognitive function was measured by intelligence quotient testing using the Wechsler Intelligence Scale for Children and adaptive function tests with Vineland Adaptive Behavior Scales. The Autism Mental Status Exam and Abbreviated Conner\u2019s Rating Scale were used to screen for autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD), respectively.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Results<\/jats:title>\n<jats:p>The mean total IQ score of DMD patients was lower than that of the general population (80.6 \u00b1 22.0 vs 100 \u00b1 15), with intellectual disability observed in 15 boys (29.4%). Of the 51 patients with DMD, the Dp71 group had the lowest cognitive performance with a total IQ score (46 \u00b1 24.8; <jats:italic>p<\/jats:italic> = 0.003), while the Dp427 group and Dp140 group\u2019s total IQ scores were 83.0 \u00b1 24.6 and 84.2 \u00b1 17.5 respectively. There were no DMD patients with ASD, while 4 boys (7.8%) had comorbidity with ADHD.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec005\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Boys with DMD are at higher risk of intellectual disability. The risk appears to increase with mutations at the 3\u2019 end of the gene (Dp71 disruption). Moreover, Dp71 disruption might not be associated with ADHD and ASD in patients with DMD.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0276640","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T17:49:52Z","timestamp":1667238592000},"page":"e0276640","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":16,"title":["Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5116-3809","authenticated-orcid":true,"given":"Kristy","family":"Iskandar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3756-8308","authenticated-orcid":true,"given":"Agung","family":"Triono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Sunartini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ery Kus","family":"Dwianingsih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Braghmandita Widya","family":"Indraswari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignatia Rosalia","family":"Kirana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Ivana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3244-0281","authenticated-orcid":true,"given":"Retno","family":"Sutomo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4821-0942","authenticated-orcid":true,"given":"Suryono Yudha","family":"Patria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth Siti","family":"Herini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-6526","authenticated-orcid":true,"family":"Gunadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,10,31]]},"reference":[{"issue":"3","key":"pone.0276640.ref001","doi-asserted-by":"crossref","first-page":"111","DOI":"10.3390\/jpm10030111","article-title":"Advances in genetic characterization and genotype-phenotype correlation of Duchenne and Becker muscular dystrophy in the personalized medicine era.","volume":"10","author":"O Sheikh","year":"2020","journal-title":"J Pers Med"},{"issue":"1","key":"pone.0276640.ref002","doi-asserted-by":"crossref","first-page":"e0228128","DOI":"10.1371\/journal.pone.0228128","article-title":"Evaluation of the cognitive-motor performance of adults with Duchenne muscular dystrophy in a hand-related task.","volume":"15","author":"K Nizamis","year":"2020","journal-title":"PLoS ONE."},{"issue":"8","key":"pone.0276640.ref003","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1080\/13854046.2011.617782","article-title":"The neuropsychological profile of infantile Duchenne muscular dystrophy.","volume":"25","author":"G Mento","year":"2011","journal-title":"Clin Neuropsychol"},{"key":"pone.0276640.ref004","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the neurophysiology of Duchenne muscular dystrophy","volume":"57","author":"M Naidoo","year":"2020","journal-title":"Mol Neurobiol"},{"issue":"6","key":"pone.0276640.ref005","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.nmd.2020.05.001","article-title":"Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy: a narrative review","volume":"30","author":"N. 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