The parent and family impact of CLN3 disease: an observational survey-based study
Abstract 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 clini...
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03119-8 |
| _version_ | 1827309955148939264 |
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| author | Angela Schulz Nita Patel Jon J. Brudvig Frank Stehr Jill M. Weimer Erika F. Augustine |
| author_facet | Angela Schulz Nita Patel Jon J. Brudvig Frank Stehr Jill M. Weimer Erika F. Augustine |
| author_sort | Angela Schulz |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-24T19:51:59Z |
| format | Article |
| id | doaj.art-add1cc127d6140539d5ad59353d974ac |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-24T19:51:59Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-add1cc127d6140539d5ad59353d974ac2024-03-24T12:33:41ZengBMCOrphanet Journal of Rare Diseases1750-11722024-03-0119111110.1186/s13023-024-03119-8The parent and family impact of CLN3 disease: an observational survey-based studyAngela Schulz0Nita Patel1Jon J. Brudvig2Frank Stehr3Jill M. Weimer4Erika F. Augustine5Department of Pediatrics, University Medical Center Hamburg-EppendorfAmicus TherapeuticsAmicus TherapeuticsNCL-StiftungAmicus TherapeuticsKennedy Krieger InstituteAbstract 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.https://doi.org/10.1186/s13023-024-03119-8Neuronal ceroid lipofuscinosisBatten diseaseRare diseaseLysosomal storage diseaseJuvenile NCLDementia |
| spellingShingle | Angela Schulz Nita Patel Jon J. Brudvig Frank Stehr Jill M. Weimer Erika F. Augustine The parent and family impact of CLN3 disease: an observational survey-based study Orphanet Journal of Rare Diseases Neuronal ceroid lipofuscinosis Batten disease Rare disease Lysosomal storage disease Juvenile NCL Dementia |
| title | The parent and family impact of CLN3 disease: an observational survey-based study |
| title_full | The parent and family impact of CLN3 disease: an observational survey-based study |
| title_fullStr | The parent and family impact of CLN3 disease: an observational survey-based study |
| title_full_unstemmed | The parent and family impact of CLN3 disease: an observational survey-based study |
| title_short | The parent and family impact of CLN3 disease: an observational survey-based study |
| title_sort | parent and family impact of cln3 disease an observational survey based study |
| topic | Neuronal ceroid lipofuscinosis Batten disease Rare disease Lysosomal storage disease Juvenile NCL Dementia |
| url | https://doi.org/10.1186/s13023-024-03119-8 |
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