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Abstract：
CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease.
We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences.
We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients\' current needs, with a primary aim of optimizing patient and family quality of life.
We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences.
We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients\' current needs, with a primary aim of optimizing patient and family quality of life.
摘要：
CLN1病(神经元类脂褐菌病1型)是一种罕见的，遗传,由棕榈酰蛋白硫酯酶1（PPT1）酶缺乏引起的神经退行性溶酶体贮积症。临床特征包括发育迟缓，精神运动回归，癫痫发作,共济失调,运动障碍,视力障碍，和早逝。总的来说,症状发作的年龄越晚，病程越漫长。我们试图评估当前的证据，并制定专家实践共识，以支持以前没有遇到过这种罕见疾病患者的临床医生。
我们检索了文献中的指南和证据，以支持临床实践建议。我们调查了CLN1疾病专家和护理人员的经验和建议，并举行了一次专家会议，以确定共识和临床实践差异。
我们发现治疗的证据基础有限，没有CLN1疾病特有的临床管理指南。15名CLN1疾病专家和39名护理人员对调查做出了回应，和14名专家举行会议，以制定基于共识的建议。由此产生的管理建议以家庭观点为独特信息，由于纳入了护理人员和倡导者的观点。支持以家庭为中心的方法，个性化，建议中强调了多学科护理。确定特定的CLN1疾病表型(婴儿-，晚期婴儿-，青少年-，或成人发作)在告知预期的临床病程方面至关重要，预后,和护理需要。应定期重新评估目标和策略，并根据患者当前的需求进行调整。主要目的是优化患者和家庭的生活质量。
我们检索了文献中的指南和证据，以支持临床实践建议。我们调查了CLN1疾病专家和护理人员的经验和建议，并举行了一次专家会议，以确定共识和临床实践差异。
我们发现治疗的证据基础有限，没有CLN1疾病特有的临床管理指南。15名CLN1疾病专家和39名护理人员对调查做出了回应，和14名专家举行会议，以制定基于共识的建议。由此产生的管理建议以家庭观点为独特信息，由于纳入了护理人员和倡导者的观点。支持以家庭为中心的方法，个性化，建议中强调了多学科护理。确定特定的CLN1疾病表型(婴儿-，晚期婴儿-，青少年-，或成人发作)在告知预期的临床病程方面至关重要，预后,和护理需要。应定期重新评估目标和策略，并根据患者当前的需求进行调整。主要目的是优化患者和家庭的生活质量。
