title: Metachromatic Leukodystrophy: An Assessment of Disease Burden.
abstract: 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' and patients' 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 ≥11 hospitalizations since diagnosis, and 14/22 caregivers reported that these lasted ≥4 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.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA feichler@partners.org.
authors.forename: Florian S
authors.initials: FS
authors.lastname: Eichler
authors.affiliation: Department of Medicine, University of Cambridge, Addenbrooke's Cambridge University Hospital, Cambridge, UK.
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Cox
authors.affiliation: Shire, Lexington, MA, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Crombez
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: Christine Í
authors.initials: CÍ
authors.lastname: Dali
authors.affiliation: Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D017028:Caregivers / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D005190:Family / Q000523:psychology*; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D007966:Leukodystrophy, Metachromatic / Q000523:psychology* / Q000628:therapy*; D008297:Male; D036301:Qualitative Research; D011788:Quality of Life; D011795:Surveys and Questionnaires
keywords: burden of illness; caregivers; metachromatic leukodystrophy; quality of life; survey