背景:CLN3病(也称为CLN3Batten病或幼年神经元浆膜脂菌病)是一种罕见的小儿神经退行性疾病,由CLN3的双等位基因突变引起。虽然已经进行了广泛的努力来了解CLN3疾病的病因,病理学,和临床进展,关于CLN3疾病对父母和照顾者的影响知之甚少。这里,我们调查了CLN3疾病进展,临床护理,和家庭经验使用半结构化访谈与39名患有CLN3疾病的人的父母。分析包括由独立观察者和定量方法进行的反应分类。
结果:父母报告的疾病进展模式与以前的报告一致。经常报告失眠以及与思想和情绪相关的担忧。“视力下降”是n=28位父母(70%)注意到的第一个体征/症状。少数父母报告了“行为问题”(n=5,12.5%),“沟通问题”(n=3,7.5%),“认知下降”(n=1,2.5%),或“癫痫发作”(n=1,2.5%)作为第一个体征/症状。从最初的体征或症状到诊断CLN3疾病的平均时间为2.8年(SD=4.1)。误诊很常见,被n=24名参与者报告(55.8%)。诊断测试和治疗与观察到的症状密切相关。对改善或稳定视力的期望(n=14,32.6%的最高治疗性治疗关注),认知(n=8,18.6%),和流动性(n=3,7%)主导了父母的担忧和希望进行治疗纠正。家庭影响很普遍,n=34(81%)的受访者报告对家庭的财务影响,n=20(46.5%)报告与该疾病有关的婚姻压力。
结论:总的来说,反应显示出明确的疾病进展模式,强烈渴望治疗与视觉和认知相关的症状,以及由疾病进展的无情本质驱动的强大家庭影响。
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.