TY  - JOUR
A1  - Schulz, A
A1  - Jain, M
A1  - Butt, T
A1  - Ballinger, R
A1  - Eliasson, L
A1  - Macey, J
A1  - Peasgood, T
A1  - Olaye, A
A1  - Terzakis-Snyder, I-A
A1  - Dyck, I
A1  - West, A
KW  - Rare disease
KW  -  Family
KW  -  Disease burden
KW  -  CLN2 disease
KW  -  Batten disease.
JF  - Journal of Inborn Errors of Metabolism and Screening
PB  - FapUNIFESP (SciELO)
UR  - https://discovery.ucl.ac.uk/id/eprint/10098316/
SN  - 2326-4594
N2  - Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2
(CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9) and
Germany (n=10) to assess the impact of caring for children with CLN2 disease, using national wellbeing and quality of life (QoL)
measures. Primary (n=19) and secondary (n=10) caregivers, adult siblings (n=2), and child siblings (n=2) were included. Caregivers
reported reduced health-related QoL compared with age and gender-matched controls (mean utility scores 0.08 and 0.11 lower
in Germany and the UK, respectively). Hours of caregiving were significantly higher relative to that provided to a child of normal
health, with stress, back pain, and reductions in sleep being recorded. Lower life satisfaction and happiness with partners were
also reported, along with significant financial burden. Those caring for children in the late stage of disease were more greatly
impacted than those with children in the rapidly progressive stage, or who were bereaved. The results of this study make clear
the importance of emotional and practical support for caregivers and siblings coping with CLN2 disease.
ID  - discovery10098316
N1  - This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any
use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SciELO and Open Access
pages (http://www.scielo.br/jiems/).
AV  - public
Y1  - 2020/05/18/
VL  - 8
TI  - The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and Germany
ER  -