Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom
Abstract Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1–CLN14). NCLs are ne...
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BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03747-8 |
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| author | Sara E. Mole Paul Gissen Shannon Nordstrom Suzanne Wait Louise Allen Mathilda Antonini Liz Brownnutt Richard Brown Barbara Cole Frances Gibbon Robert H. Henderson Sarah Kenrick Zlatko Sisic Bob Thompson Joanna Nightingale |
| author_facet | Sara E. Mole Paul Gissen Shannon Nordstrom Suzanne Wait Louise Allen Mathilda Antonini Liz Brownnutt Richard Brown Barbara Cole Frances Gibbon Robert H. Henderson Sarah Kenrick Zlatko Sisic Bob Thompson Joanna Nightingale |
| author_sort | Sara E. Mole |
| collection | DOAJ |
| description | Abstract Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1–CLN14). NCLs are neurodegenerative, and symptoms can include a combination of childhood dementia, epileptic seizures, motor decline and vision loss, and eventually lead to premature death. There is currently no cure for any subtype of NCL, however, enzyme replacement therapy is available for CLN2 disease, and several treatment strategies are being explored for other NCL subtypes. Early diagnosis and initiation of supportive services (e.g. health, education, social services) are essential to preserve quality of life. Only a few studies have investigated family experiences with NCL, many of which are international in scope. Methods A mixed-method research study was conducted in the UK to understand family experiences in CLN2 and CLN3 disease. It involved an initial literature review, followed by in-depth qualitative interviews. Interview data were analysed using a thematic analysis. Thirteen families (n = 13) participated in the interviews. This represented 16 parents (11 mothers and 5 fathers) of 18 children (10 diagnosed with CLN3 disease and 8 diagnosed with CLN2 disease). Findings were analysed jointly across CLN2 and CLN3 disease. Results Six overarching themes emerged from the analysis: difficulty in recognising early symptoms; the shock of a diagnosis; the demands of caring for complex and ever-changing needs; a constant battle to access appropriate and timely support services; the extensive impact on the unaffected sibling; and the all-encompassing impact on the family. Conclusions This study contributes novel UK specific data on family experiences and unmet needs in CLN2 and CLN3 disease. More needs to be done to ensure NCLs are diagnosed early, and timely local support services are made available to protect quality of life for both the affected children and their families. |
| format | Article |
| id | doaj-art-fd26ebacbb7043eab3ec388a2164154d |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-fd26ebacbb7043eab3ec388a2164154d2025-08-20T02:10:32ZengBMCOrphanet Journal of Rare Diseases1750-11722025-05-0120111310.1186/s13023-025-03747-8Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United KingdomSara E. Mole0Paul Gissen1Shannon Nordstrom2Suzanne Wait3Louise Allen4Mathilda Antonini5Liz Brownnutt6Richard Brown7Barbara Cole8Frances Gibbon9Robert H. Henderson10Sarah Kenrick11Zlatko Sisic12Bob Thompson13Joanna Nightingale14UCL Great Ormond Street Institute of Child HealthNIHR Great Ormond Street Hospital Biomedical Research CentreThe Health Policy PartnershipThe Health Policy PartnershipCambridge University HospitalsGreat Ormond Street Hospital for Children (GOSH)The Batten Disease Family Association (BDFA)Addenbrookes HospitalThe Batten Disease Family Association (BDFA)Noah’s Ark Children’s Hospital for Wales, University Hospital of WalesUCL Great Ormond Street Institute of Child HealthThe Batten Disease Family Association (BDFA)The Batten Disease Family Association (BDFA)The Batten Disease Family Association (BDFA)The Batten Disease Family Association (BDFA)Abstract Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1–CLN14). NCLs are neurodegenerative, and symptoms can include a combination of childhood dementia, epileptic seizures, motor decline and vision loss, and eventually lead to premature death. There is currently no cure for any subtype of NCL, however, enzyme replacement therapy is available for CLN2 disease, and several treatment strategies are being explored for other NCL subtypes. Early diagnosis and initiation of supportive services (e.g. health, education, social services) are essential to preserve quality of life. Only a few studies have investigated family experiences with NCL, many of which are international in scope. Methods A mixed-method research study was conducted in the UK to understand family experiences in CLN2 and CLN3 disease. It involved an initial literature review, followed by in-depth qualitative interviews. Interview data were analysed using a thematic analysis. Thirteen families (n = 13) participated in the interviews. This represented 16 parents (11 mothers and 5 fathers) of 18 children (10 diagnosed with CLN3 disease and 8 diagnosed with CLN2 disease). Findings were analysed jointly across CLN2 and CLN3 disease. Results Six overarching themes emerged from the analysis: difficulty in recognising early symptoms; the shock of a diagnosis; the demands of caring for complex and ever-changing needs; a constant battle to access appropriate and timely support services; the extensive impact on the unaffected sibling; and the all-encompassing impact on the family. Conclusions This study contributes novel UK specific data on family experiences and unmet needs in CLN2 and CLN3 disease. More needs to be done to ensure NCLs are diagnosed early, and timely local support services are made available to protect quality of life for both the affected children and their families.https://doi.org/10.1186/s13023-025-03747-8Batten diseaseNeuronal ceroid lipofuscinosesCLN2 diseaseCLN3 diseaseParentsSiblings |
| spellingShingle | Sara E. Mole Paul Gissen Shannon Nordstrom Suzanne Wait Louise Allen Mathilda Antonini Liz Brownnutt Richard Brown Barbara Cole Frances Gibbon Robert H. Henderson Sarah Kenrick Zlatko Sisic Bob Thompson Joanna Nightingale Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom Orphanet Journal of Rare Diseases Batten disease Neuronal ceroid lipofuscinoses CLN2 disease CLN3 disease Parents Siblings |
| title | Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom |
| title_full | Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom |
| title_fullStr | Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom |
| title_full_unstemmed | Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom |
| title_short | Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom |
| title_sort | evidence of the impact of cln2 and cln3 batten disease on families in the united kingdom |
| topic | Batten disease Neuronal ceroid lipofuscinoses CLN2 disease CLN3 disease Parents Siblings |
| url | https://doi.org/10.1186/s13023-025-03747-8 |
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