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

Angela Schulz,Lina Eliasson,Iris Dyck,Irini-Alexia Terzakis-Snyder,Mohit Jain,Rachel Ballinger,Jake Macey,Andrew Olaye,Thomas Butt,Andrea West,Tessa Peasgood

doi:10.1590/2326-4594-jiems-2019-0013

Abstract

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.

Highlights

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is part of a group of rare, progressive, degenerative, neurometabolic disorders called neuronal ceroid lipofuscinoses (NCLs; known as Batten disease) [1,2,3]. This rare, autosomal recessive disorder is caused by pathologic variants in the TPP1 gene which lead to deficiency of an enzyme called tripeptidyl peptidase 1 (TPP1)
The aim of this study was to explore the challenges that families face and their health-related quality of life (HRQoL) when living with and caring for a child or children affected by CLN2 disease
The total scores of the Hamburg Scale were classed as early stage (6/12 total score, with a minimum combined score of >5 on motor and language scores), rapidly progressive stage (3–5/12 total score), or late stage (0–2/12 total score)

Summary

Introduction

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is part of a group of rare, progressive, degenerative, neurometabolic disorders called neuronal ceroid lipofuscinoses (NCLs; known as Batten disease) [1,2,3]. This rare, autosomal recessive disorder is caused by pathologic variants (mutations) in the TPP1 gene ( known as the CLN2 gene) which lead to deficiency of an enzyme called tripeptidyl peptidase 1 (TPP1). Onset of CLN2 disease generally begins when the child is aged 2–4 years, followed by a rapid decline in motor and language abilities [6].

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