{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:16:03Z","timestamp":1786115763270,"version":"build-2736575974"},"reference-count":61,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To synthesize current evidence on cognitive development, neuropsychological and quality-of-life (QoL) outcomes in pediatric CMs, including caregiver burden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A systematic review was conducted according to PRISMA guidelines and registered on PROSPERO (CRD420261373780). PubMed, Scopus, Web of Science and\n                      <jats:ext-link>ClinicalTrials.gov<\/jats:ext-link>\n                      were searched up to June 2026. Observational studies reporting neuropsychological or psychosocial outcomes in children with CMs were included.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>18 studies (104 patients; 56 caregivers) were included, predominantly case reports\/series (72.2%). Cognitive outcomes were heterogeneous: most patients showed preserved intellectual functioning; however, beyond the expected motor impairment, some exhibited additional language or domain-specific deficits. More severe profiles were observed in ACTA1-related disease and selected rare genotypes, often associated with brain abnormalities. In contrast, cognition was largely preserved in X-linked myotubular myopathy, although adaptive functioning and QoL were frequently reduced. School outcomes were rarely reported. Caregiver data indicated a substantial and multidimensional burden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Neuropsychological and psychosocial outcomes in pediatric CMs are clinically relevant but understudied and heterogeneous across genotypes. Standardized, motor-adapted assessment should be integrated into multidisciplinary care. QoL evidence remains limited to XLMTM and SELENON-related myopathy. Prospective, genotype-stratified studies including longitudinal, academic, adaptive and caregiver outcomes are needed, particularly alongside emerging disease-modifying therapies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Systematic review registration<\/jats:title>\n                    <jats:p>\n                      <jats:ext-link>https:\/\/www.crd.york.ac.uk\/PROSPERO\/view\/CRD420261373780<\/jats:ext-link>\n                      , identifier CRD420261373780.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1876262","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T05:33:03Z","timestamp":1785994383000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes"],"prefix":"10.3389","volume":"13","author":[{"given":"Sergio","family":"Rinella","sequence":"first","affiliation":[{"name":"Unit of Pediatric Clinic, Azienda Ospedaliero-Universitaria Policlinico \u201cG. Rodolico-San Marco\u201d, Department of Clinical and Experimental Medicine, University of Catania","place":["Catania, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennaro","family":"Anastasio","sequence":"additional","affiliation":[{"name":"Department of Educational Sciences, University of Catania","place":["Catania, Italy"]},{"name":"National Center for Rare Diseases, Istituto Superiore di Sanit\u00e0","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Sapuppo","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico \u201cG. 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