Abstract
Background: The neuronal ceroid lipofuscinoses, collectively known as Batten disease, are rare pediatric neurodegenerative disorders resulting in blindness, progressive motor impairment, dementia, and premature death. This study identified services and support accessed by parents of children with Batten disease and assessed parental marital quality. Methods: Parents completed a survey to identify services their affected children received, and their own uses of social support, information, and online resources. We used the Dyadic Adjustment Scale to evaluate parental marital quality. Results: 29 parents of 23 Batten-affected children completed the survey. 18 children (78%) received receiving in-home nursing or paraprofessional care. Over 90% of parents used the internet and social media to learn or talk about Batten disease; their preferred learning method was from other parents of children with Batten disease. Batten parent marital quality was significantly lower than that reported in studies of the general population or parents of children with chronic, but non-neurodegenerative, disease. Conclusions: Parents expressed an interest in and preference for parent-to-parent communication for support and information about Batten disease. Further work is needed to understand factors associated with the significantly lower marital quality among Batten parents.
Highlights
The neuronal ceroid lipofuscinoses, collectively known as Batten disease, are rare pediatric neurodegenerative disorders resulting in blindness, progressive motor impairment, dementia, and premature death
The neuronal ceroid lipofuscinoses (NCLs) are rare, neurodegenerative, predominantly autosomal-recessively inherited lysosomal storage disorders with varying genetic etiologies; disease-causing mutations in over 10 different genes have been described to date [1]
Prospective participants were recruited from the University of Rochester Batten Center (URBC) research contact registry, and at the 2014 Batten Disease Support and Research Association (BDSRA) family support conference (Columbus, Ohio, USA, July 24th – July 27th, 2014)
Summary
The neuronal ceroid lipofuscinoses, collectively known as Batten disease, are rare pediatric neurodegenerative disorders resulting in blindness, progressive motor impairment, dementia, and premature death. The neuronal ceroid lipofuscinoses (NCLs) are rare, neurodegenerative, predominantly autosomal-recessively inherited lysosomal storage disorders with varying genetic etiologies; disease-causing mutations in over 10 different genes have been described to date [1]. Phenotypic classifications for Batten disease are in part based upon age at symptom onset, including during the first year of life (infantile); the second or third year of life (late-infantile), or between approximately 4-7 years old (juvenile). Compared to caregivers of children with non-neurodegenerative, chronic medical conditions, caregivers of children with Batten disease have greater levels of depression and anxiety [3, 4]. Greater behavioral problems in children with Batten disease are associated with lower parental quality of life [5]
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