Metachromatic Leukodystrophy: An Assessment of Disease Burden

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Metachromatic Leukodystrophy: An Assessment of Disease Burden. / Eichler, Florian S; Cox, Timothy M; Crombez, Eric; Dali, Christine Í; Kohlschütter, Alfried.

In: J CHILD NEUROL, Vol. 31, No. 13, 07.07.2016, p. 1457-1463.

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Harvard

Eichler, FS, Cox, TM, Crombez, E, Dali, CÍ & Kohlschütter, A 2016, 'Metachromatic Leukodystrophy: An Assessment of Disease Burden', J CHILD NEUROL, vol. 31, no. 13, pp. 1457-1463. https://doi.org/10.1177/0883073816656401

APA

Eichler, F. S., Cox, T. M., Crombez, E., Dali, C. Í., & Kohlschütter, A. (2016). Metachromatic Leukodystrophy: An Assessment of Disease Burden. J CHILD NEUROL, 31(13), 1457-1463. https://doi.org/10.1177/0883073816656401

Vancouver

Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Metachromatic Leukodystrophy: An Assessment of Disease Burden. J CHILD NEUROL. 2016 Jul 7;31(13):1457-1463. https://doi.org/10.1177/0883073816656401

Bibtex

@article{005c0533fb4a47b29390117f495db1ff,
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.",
author = "Eichler, {Florian S} and Cox, {Timothy M} and Eric Crombez and Dali, {Christine {\'I}} and Alfried Kohlsch{\"u}tter",
note = "{\textcopyright} The Author(s) 2016.",
year = "2016",
month = jul,
day = "7",
doi = "10.1177/0883073816656401",
language = "English",
volume = "31",
pages = "1457--1463",
journal = "J CHILD NEUROL",
issn = "0883-0738",
publisher = "SAGE Publications",
number = "13",

}

RIS

TY - JOUR

T1 - Metachromatic Leukodystrophy: An Assessment of Disease Burden

AU - Eichler, Florian S

AU - Cox, Timothy M

AU - Crombez, Eric

AU - Dali, Christine Í

AU - Kohlschütter, Alfried

N1 - © The Author(s) 2016.

PY - 2016/7/7

Y1 - 2016/7/7

N2 - 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.

AB - 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.

U2 - 10.1177/0883073816656401

DO - 10.1177/0883073816656401

M3 - SCORING: Journal article

C2 - 27389394

VL - 31

SP - 1457

EP - 1463

JO - J CHILD NEUROL

JF - J CHILD NEUROL

SN - 0883-0738

IS - 13

ER -