{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T01:17:04Z","timestamp":1778721424233,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"3-4","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurosciences"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Background: Duchenne Muscular Dystrophy (DMD) is a fatal muscular dystrophy of pediatric population coupled with other secondary comorbidities including mental retardation and neuropsychological impairments. Mutation location in the dystrophin gene, have been associated with neuropsychological functioning in DMD.<\/jats:p>\n                  <jats:p>Purpose: We investigated temporal changes in the neuropsychological functioning of DMD subjects, hitherto understudied.<\/jats:p>\n                  <jats:p>Methods: Subjects with suspected DMD were enrolled according to the ethical guidelines. Genetic confirmation by Multiplex Ligation Dependent Probe Amplification was carried out to identify pathogenic deletion or duplication in dystrophin gene. Intellectual and neuropsychological functioning was assessed by using standardized batteries. Investigated neuropsychological domains included visual, verbal and working memory, selective and sustained attention, executive functioning, verbal fluency, and visuo-constructive and visuo-spatial abilities. The assessments were carried out at baseline and followed for one time point in 30 cases.<\/jats:p>\n                  <jats:p>Result: The follow-up assessment revealed that neuropsychological functioning did not worsen with time. Improvements were seen in block designing task ( p = 0.050), serial positioning primacy effect ( p = 0.002), Stroop incongruent task ( p = 0.006), visual long-term memory ( p = 0.003) and attention ( p = 0.001). DMD cases with mutation location affecting short dystrophin isoform (Dp140) also showed improvement in these domains.<\/jats:p>\n                  <jats:p>Conclusion: No temporal alterations were found in DMD subjects, though improvements in few domains were observed. Neuropsychological rehabilitation may be useful in improving the quality of life in DMD subjects.<\/jats:p>","DOI":"10.1177\/0972753120912913","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T02:27:48Z","timestamp":1585794468000},"page":"42-49","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["The Role of\n                    <i>Dystrophin<\/i>\n                    Gene Mutations in Neuropsychological Domains of DMD Boys: A Longitudinal Study"],"prefix":"10.1177","volume":"26","author":[{"given":"Rahul","family":"Tyagi","sequence":"first","affiliation":[{"name":"Neuroscience Research Lab, Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Podder","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Kamineni Institute of Medical Sciences, Narketpally, Nalgonda, Telangana, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harshita","family":"Arvind","sequence":"additional","affiliation":[{"name":"Neuroscience Research Lab, Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manju","family":"Mohanty","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akshay","family":"Anand","sequence":"additional","affiliation":[{"name":"Neuroscience Research Lab, Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,4,1]]},"reference":[{"key":"bibr1-0972753120912913","doi-asserted-by":"crossref","unstructured":"Doorenweerd N, Mahfouz A, van Putten M Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci Rep 2017; 7(1): 12575.","DOI":"10.1038\/s41598-017-12981-5"},{"key":"bibr2-0972753120912913","doi-asserted-by":"crossref","unstructured":"Allikian MJ, McNally EM. Processing and assembly of the dystrophin glycoprotein complex. Traffic 2007; 8(3): 177\u2013183.","DOI":"10.1111\/j.1600-0854.2006.00519.x"},{"key":"bibr3-0972753120912913","doi-asserted-by":"crossref","unstructured":"Constantin B. Dystrophin complex functions as a scaffold for signalling proteins. Biochim Biophys Acta 2014; 1838(2): 635\u2013142.","DOI":"10.1016\/j.bbamem.2013.08.023"},{"key":"bibr4-0972753120912913","unstructured":"Stark AE. Determinants of the incidence of Duchenne muscular dystrophy. Ann Transl Med 2015; 3(19): 287."},{"key":"bibr5-0972753120912913","doi-asserted-by":"crossref","unstructured":"Perumal AR, Rajeswaran J, Nalini A. Neuropsychological profile of Duchenne muscular dystrophy. 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