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dc.contributor.authorPascual-Morena, Carlos
dc.contributor.authorCavero-Redondo, Ivan
dc.contributor.authorMartinez-Vizcaino, Vicente
dc.contributor.authorSequi-Dominguez, Irene
dc.contributor.authorFernandez-Bravo-Rodrigo, Jaime
dc.contributor.authorJimenez-Lopez, Estela
dc.date.accessioned2024-04-11T06:07:00Z
dc.date.available2024-04-11T06:07:00Z
dc.date.issued2023
dc.identifier10.3233/JND-221586
dc.identifier.issn22143599
dc.identifier.urihttps://hdl.handle.net/20.500.12728/11151
dc.description.abstractBackground: Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. Objective: The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder with the dystrophin/DMD genotype in population with dystrophinopathies. Methods: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to September 2022. We included observational studies in the population with Becker or Duchenne muscular dystrophies (BMD, DMD) that estimated the prevalence of these disorders according to Dp140 and/or Dp71 genotype. Meta-analysis of the prevalence ratio (PR) of genotype comparisons was conducted for each disorder. Results: Ten studies were included in the systematic review. In BMD, Dp140+ vs. Dp140- and Dp71+ vs. Dp71- were associated with developmental disorders with a PR of 0.11 (0.04, 0.34) and 0.22 (0.07, 0.67), respectively. In DMD, Dp140+/Dp71+ vs. Dp140-/Dp71- had a PR of 0.40 (0.28, 0.57), and Dp71+ vs. Dp71- had a PR of 0.47 (0.36, 0.63) for ADHD. However, there was no association of genotype with ASD, only a trend was observed for Dp71+ vs. Dp71-, with a PR of 0.61 (0.35, 1.06). Moreover, the data showed no association of these isoforms with emotional-related disorders. Conclusions: In BMD, Dp140 and Dp71 could be associated with developmental disorders, whileADHDmight be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD.es_ES
dc.description.sponsorshipUniversidad de Castilla-La Mancha [2018-CPUCLM-7939]; European Regional Development Fundes_ES
dc.language.isoenes_ES
dc.publisherIOS PRESSes_ES
dc.subjectDystrophines_ES
dc.subjectDuchenne muscular dystrophyes_ES
dc.subjectautistic disorderes_ES
dc.subjectneurodevelopmental disorderses_ES
dc.subjectmood disorderses_ES
dc.titleDystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysises_ES
dc.typeArticlees_ES


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