{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Manual"},"PMID":{"@attributes":{"Version":"1"},"@text":"36565132"},"DateCompleted":{"Year":"2023","Month":"04","Day":"11"},"DateRevised":{"Year":"2025","Month":"08","Day":"01"},"Article":{"@attributes":{"PubModel":"Print"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"2214-3602"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"10","Issue":"2","PubDate":{"Year":"2023"}},"Title":"Journal of neuromuscular diseases","ISOAbbreviation":"J Neuromuscul Dis"},"ArticleTitle":"Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.","Pagination":{"StartPage":"159","EndPage":"172","MedlinePgn":"159-172"},"ELocationID":[{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.3233\/JND-221586"}],"Abstract":{"AbstractText":[{"@attributes":{"Label":"BACKGROUND","NlmCategory":"BACKGROUND"},"@text":"Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin\/DMD expression."},{"@attributes":{"Label":"OBJECTIVE","NlmCategory":"OBJECTIVE"},"@text":"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."},{"@attributes":{"Label":"METHODS","NlmCategory":"METHODS"},"@text":"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."},{"@attributes":{"Label":"RESULTS","NlmCategory":"RESULTS"},"@text":"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."},{"@attributes":{"Label":"CONCLUSIONS","NlmCategory":"CONCLUSIONS"},"@text":"In BMD, Dp140 and Dp71 could be associated with developmental disorders, while ADHD might be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD."}]},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Pascual-Morena","ForeName":"Carlos","Initials":"C","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Cavero-Redondo","ForeName":"Iv\u00e1n","Initials":"I","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."},{"Affiliation":"Facultadde Ciencias de la Salud, Universidad Aut\u00f3noma de Chile, Talca, Chile."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Mart\u00ednez-Vizca\u00edno","ForeName":"Vicente","Initials":"V","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."},{"Affiliation":"Facultadde Ciencias de la Salud, Universidad Aut\u00f3noma de Chile, Talca, Chile."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Sequ\u00ed-Dom\u00ednguez","ForeName":"Irene","Initials":"I","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Fern\u00e1ndez-Bravo-Rodrigo","ForeName":"Jaime","Initials":"J","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."},{"Affiliation":"Pharmacy Service. Hospital Virgen de laLuz, Cuenca, Spain."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Jim\u00e9nez-L\u00f3pez","ForeName":"Estela","Initials":"E","AffiliationInfo":[{"Affiliation":"Health and Social Research Center, Universidad deCastilla- La Mancha, Cuenca, Spain."}]}]},"Language":["eng"],"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D017418"},"@text":"Meta-Analysis"},{"@attributes":{"UI":"D000078182"},"@text":"Systematic Review"},{"@attributes":{"UI":"D016428"},"@text":"Journal Article"}]}},"MedlineJournalInfo":{"Country":"United States","MedlineTA":"J Neuromuscul Dis","NlmUniqueID":"101649948","ISSNLinking":"2214-3599"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C094406"},"@text":"140-kDa dystrophin"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C085339"},"@text":"apo-dystrophin 1"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016189"},"@text":"Dystrophin"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D006801","MajorTopicYN":"N"},"@text":"Humans"}},{"DescriptorName":{"@attributes":{"UI":"D016189","MajorTopicYN":"Y"},"@text":"Dystrophin"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D020022","MajorTopicYN":"N"},"@text":"Genetic Predisposition to Disease"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D005838","MajorTopicYN":"N"},"@text":"Genotype"}},{"DescriptorName":{"@attributes":{"UI":"D001523","MajorTopicYN":"Y"},"@text":"Mental Disorders"},"QualifierName":[{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000523","MajorTopicYN":"N"},"@text":"psychology"}]},{"DescriptorName":{"@attributes":{"UI":"D009136","MajorTopicYN":"N"},"@text":"Muscular Dystrophies"},"QualifierName":[{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000523","MajorTopicYN":"N"},"@text":"psychology"}]},{"DescriptorName":{"@attributes":{"UI":"D020388","MajorTopicYN":"Y"},"@text":"Muscular Dystrophy, Duchenne"},"QualifierName":[{"@attributes":{"UI":"Q000453","MajorTopicYN":"N"},"@text":"epidemiology"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000523","MajorTopicYN":"N"},"@text":"psychology"}]},{"DescriptorName":{"@attributes":{"UI":"D015995","MajorTopicYN":"N"},"@text":"Prevalence"}}]},"KeywordList":[{"@attributes":{"Owner":"NOTNLM"},"Keyword":[{"@attributes":{"MajorTopicYN":"N"},"@text":"Duchenne muscular dystrophy"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Dystrophin"},{"@attributes":{"MajorTopicYN":"N"},"@text":"autistic disorder"},{"@attributes":{"MajorTopicYN":"N"},"@text":"mood disorders"},{"@attributes":{"MajorTopicYN":"N"},"@text":"neurodevelopmental disorders"}]}],"CoiStatement":"The authors declare no conflicts of interest, and no funding was received for this study."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"pubmed"},"Year":"2022","Month":"12","Day":"25","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2023","Month":"3","Day":"15","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"entrez"},"Year":"2022","Month":"12","Day":"24","Hour":"4","Minute":"23"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2023","Month":"3","Day":"27"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"36565132"},{"@attributes":{"IdType":"pmc"},"@text":"PMC10041431"},{"@attributes":{"IdType":"doi"},"@text":"10.3233\/JND-221586"},{"@attributes":{"IdType":"pii"},"@text":"JND221586"}]},"ReferenceList":[{"Reference":[{"Citation":"Holland A, Carberry S, Ohlendieck K. 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