{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:27:08Z","timestamp":1777804028757,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2016,9,29]],"date-time":"2016-09-29T00:00:00Z","timestamp":1475107200000},"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":[[2016,11]]},"abstract":"<jats:p>Metachromatic leukodystrophy is accompanied by severe motor and cognitive dysfunction. This is the first survey of metachromatic leukodystrophy caregiver perspectives to identify relevant clinical\/quality-of-life outcomes for patients\/caregivers. Interviews and 1 focus group were conducted with 30 caregivers representing 23 patients. Caregivers were asked about their experiences, including diagnostic process, signs\/symptoms, symptoms affecting caregivers\u2019 and patients\u2019 lives, and treatment priorities. Caregivers reported loss of physical autonomy, weight loss, limited social relationships, frequent crying, and challenging sibling relationships. Most troublesome symptoms were immobility (9\/30) and respiratory difficulties (6\/30). Health care visits were frequent: 8\/22 patients had experienced \u226511 hospitalizations since diagnosis, and 14\/22 caregivers reported that these lasted \u22654 days. Caregivers also experienced work problems, feelings of fear\/sadness, and loss of social relationships. Caregivers\/physicians consider a therapy that could improve decline in mobility, pain, cognitive ability, communication, or food intake as conferring the greatest benefit. In conclusion, a so-far-unreported physical\/economic burden in these families is presented.<\/jats:p>","DOI":"10.1177\/0883073816656401","type":"journal-article","created":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T22:08:39Z","timestamp":1467929319000},"page":"1457-1463","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":35,"title":["Metachromatic Leukodystrophy"],"prefix":"10.1177","volume":"31","author":[{"given":"Florian S.","family":"Eichler","sequence":"first","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Cambridge, Addenbrooke\u2019s Cambridge University Hospital, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Crombez","sequence":"additional","affiliation":[{"name":"Shire, Lexington, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine \u00ed","family":"Dali","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfried","family":"Kohlsch\u00fctter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,9,29]]},"reference":[{"key":"bibr1-0883073816656401","unstructured":"Gieselmann V, Kr\u00e4geloh-Mann I. Metachromatic leukodystrophy. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014. http:\/\/ommbid.mhmedical.com\/book.aspx?bookid=971"},{"key":"bibr2-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000234129.97727.4d"},{"key":"bibr3-0883073816656401","doi-asserted-by":"publisher","DOI":"10.4135\/9781446221792.n3"},{"key":"bibr4-0883073816656401","volume-title":"Computer Programs for Qualitative Data Analysis","author":"Weitzman EA","year":"1995"},{"key":"bibr5-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1177\/0269216310391346"},{"key":"bibr6-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2012.02680.x"},{"key":"bibr7-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04028.x"},{"key":"bibr8-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03821.x"},{"key":"bibr9-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_188"},{"key":"bibr10-0883073816656401","volume-title":"GeneReviews\u00ae [Internet]","author":"Fluharty AL","year":"1993"},{"key":"bibr11-0883073816656401","unstructured":"ClinicalTrials.gov. Intracerebral gene therapy for children with early onset forms of metachromatic leukodystrophy (TG-MLD) (NCT01801709). Bethesda, MD: National Institutes of Health; 2014."},{"key":"bibr12-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.10.002"},{"key":"bibr13-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1126\/science.1233158"},{"key":"bibr14-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1253412"},{"key":"bibr15-0883073816656401","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2013.01.010"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073816656401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073816656401","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073816656401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:38:36Z","timestamp":1777495116000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073816656401"}},"subtitle":["An Assessment of Disease Burden"],"short-title":[],"issued":{"date-parts":[[2016,9,29]]},"references-count":15,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1177\/0883073816656401"],"URL":"https:\/\/doi.org\/10.1177\/0883073816656401","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,29]]}}}