{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:31:33Z","timestamp":1788913893330,"version":"build-2803163510"},"reference-count":20,"publisher":"SAGE Publications","issue":"1-2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact of most bothersome symptoms, and needs that future treatment should address. One hundred participants completed the survey. Results from this survey demonstrate that the majority of Pelizaeus-Merzbacher disease symptoms manifest before 2 years of age and commonly include deficits in gross and fine motor skills, speech, and communication. Caregivers rated difficulty crawling, standing, or walking as the most bothersome symptoms due to Pelizaeus-Merzbacher disease, with constipation and difficulty with sleep, manual dexterity, and speech and communication rated nearly as high. The most important treatment goals for caregivers were improved mobility and communication. The survey findings present a caregiver perspective of the impact of symptoms in Pelizaeus-Merzbacher disease and provide helpful guidance to affected families, physicians, and drug developers on the often-long path to diagnosis and the unmet medical needs of this patient population.<\/jats:p>","DOI":"10.1177\/08830738231152658","type":"journal-article","created":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T03:57:46Z","timestamp":1675655866000},"page":"78-84","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact"],"prefix":"10.1177","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6387-8502","authenticated-orcid":false,"given":"Katrina M","family":"Moore","sequence":"first","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole I.","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Centre, Emma Children's Hospital, Amsterdam University Medical Centres, Vrije Universiteit, Amsterdam, Netherlands"},{"name":"Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Hobson","sequence":"additional","affiliation":[{"name":"Department of Research, Nemours Alfred I duPont Hospital for Children, Wilmington, DE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Bowyer","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"McSherry","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Hartin","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Wilde","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Shapiro","sequence":"additional","affiliation":[{"name":"ClarityCo Strategic Group, West Chester, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Frank","sequence":"additional","affiliation":[{"name":"ClarityCo Strategic Group, West Chester, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Manley","sequence":"additional","affiliation":[{"name":"PMD Foundation, Madison, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice","family":"Junge","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals, Carlsbad, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,2,6]]},"reference":[{"key":"bibr1-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181eee46b"},{"key":"bibr2-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7263-5"},{"key":"bibr3-08830738231152658","volume-title":"GeneReviews\u00ae","author":"Wolf NI","year":"2019"},{"key":"bibr4-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64076-5.00045-4"},{"key":"bibr5-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0207-y"},{"key":"bibr6-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000020110"},{"key":"bibr7-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2018.05.019"},{"key":"bibr8-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.125052"},{"key":"bibr9-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2019.09.003"},{"key":"bibr10-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2018.07.015"},{"key":"bibr11-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa080"},{"key":"bibr12-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1"},{"key":"bibr13-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000174642.32187.20"},{"key":"bibr14-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.07.005"},{"key":"bibr15-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.12.007"},{"key":"bibr16-08830738231152658","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-8884-x"},{"key":"bibr17-08830738231152658","doi-asserted-by":"publisher","DOI":"10.25100\/cm.v49i2.2522"},{"key":"bibr18-08830738231152658","unstructured":"US Food and Drug Administration. 2022. 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