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

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

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

Cited by 3 publications

(2 citation statements)

References 42 publications

(54 reference statements)

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“…Research regarding the specific impact of CLN3 on the family is limited. Schulz et al (2020) examined the challenges of living with and caring for children with CLN2 disease, another NCL condition. Disease onset is earlier than in CLN3, and main symptoms are language and motor difficulties and seizures (Mole et al, 2019).…”

Section: Key Messagesmentioning

confidence: 99%

“…Disease onset is earlier than in CLN3, and main symptoms are language and motor difficulties and seizures (Mole et al, 2019). Families of children with CLN2 report lower quality of life, life satisfaction and lower satisfaction with their partner compared with the normal population (Schulz et al, 2020). We are not aware of any research concerning resilience in the NCLs despite its importance in understanding adaptation to disease.…”

Section: Introductionmentioning

confidence: 99%

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Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

Krantz

Malm

Darín

et al. 2022

Child

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Background CLN3 disease is a neurodegenerative condition presenting in the first decade of life typically leading to death in the third decade. The earliest symptom is rapidly progressive visual impairment followed by intellectual and motor impairments, epilepsy and behavioural disturbances. There are limited data on how the condition affects the family system or the role of family resilience in paediatric neurodegenerative diseases. Methods Semi‐structured interviews were conducted with eight parents (five mothers and three fathers) of five children with CLN3. Interview questions focused on the experience of having a child with CLN3, its impact on the family system as well as the concept of family resilience. Data were analysed via thematic analysis. Results The thematic analysis resulted in four main themes. The theme ‘recurring losses’ included the feeling of losing a healthy child, the child's loss of abilities and loss of relationships. The theme ‘disruption to the family system’ included that siblings could be ‘side‐lined’, the potential negative impact on romantic relationships and difficulties finding time to oneself. The theme ‘Society is not developed for a progressive disease’ highlighted the difficulties parents faced with respect to contacts with the health and/or social insurance system. The paediatric health care system was seen as supportive, but the adult health care system was not seen as fit for the purpose. Regarding family resilience, parents felt that the disease forced them to reconsider what was important in life. Several parents described that they learned to value small moments of joy and create deep connections through involvement in family routines and rituals. Conclusions CLN3 places a very significant burden on the family system including parental feelings of loss, impact on family relationships and lack of understanding within the health/social insurance systems. The concept of family resilience may be useful in understanding the experiences of families affected by paediatric neurodegenerative conditions.

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Section: Key Messagesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

Krantz

Malm

Darín

et al. 2022

Child

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The parent and family impact of CLN3 disease: an observational survey-based study

Schulz,

Patel,

Brudvig

et al. 2024

Orphanet J Rare Dis

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Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been undertaken to understand CLN3 disease etiology, pathology, and clinical progression, little is known about the impact of CLN3 disease on parents and caregivers. Here, we investigated CLN3 disease progression, clinical care, and family experiences using semi-structured interviews with 39 parents of individuals with CLN3 disease. Analysis included response categorization by independent observers and quantitative methods. Results Parents reported patterns of disease progression that aligned with previous reports. Insomnia and thought- and mood-related concerns were reported frequently. “Decline in visual acuity” was the first sign/symptom noticed by n = 28 parents (70%). A minority of parents reported “behavioral issues” (n = 5, 12.5%), “communication issues” (n = 3, 7.5%), “cognitive decline” (n = 1, 2.5%), or “seizures” (n = 1, 2.5%) as the first sign/symptom. The mean time from the first signs or symptoms to a diagnosis of CLN3 disease was 2.8 years (SD = 4.1). Misdiagnosis was common, being reported by n = 24 participants (55.8%). Diagnostic tests and treatments were closely aligned with observed symptoms. Desires for improved or stabilized vision (top therapeutic treatment concern for n = 14, 32.6%), cognition (n = 8, 18.6%), and mobility (n = 3, 7%) dominated parental concerns and wishes for therapeutic correction. Family impacts were common, with n = 34 (81%) of respondents reporting a financial impact on the family and n = 20 (46.5%) reporting marital strain related to the disease. Conclusions Collectively, responses demonstrated clear patterns of disease progression, a strong desire for therapies to treat symptoms related to vision and cognition, and a powerful family impact driven by the unrelenting nature of disease progression.

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Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family

Honingh

Kruithof

Kuper

et al. 2022

IJERPH

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The juvenile variant of Neuronal Ceroid Lipofuscinosis (CLN3 disease/Batten disease) is a rare progressive brain disease in children and young adults, characterized by vision loss, decline in cognitive and motor capacities and epilepsy. Children with CLN3 disease often show disturbed behaviour and emotions. The aim of this study is to gain a better understanding of the behaviour and emotions of children with CLN3 disease and to examine the support that the children and their parents are receiving. A combination of qualitative and quantitative analysis was used to analyse patient files and parent interviews. Using a framework analysis approach a codebook was developed, the sources were coded and the data were analysed. The analysis resulted in overviews of (1) typical behaviour and emotions of children as a consequence of CLN3 disease, (2) the support children with CLN3 disease receive, (3) the support parents of these children receive, and (4) the problems these parents face. For a few children their visual, physical or cognitive deterioration was found to lead to specific emotions and behaviour. The quantitative analysis showed that anxiety was reported for all children. The presented overviews on support contain tacit knowledge of health care professionals that has been made explicit by this study. The overviews may provide a lead to adaptable support-modules for children with CLN3 disease and their parents.

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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

Cited by 3 publications

References 42 publications

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

The parent and family impact of CLN3 disease: an observational survey-based study

Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family

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