Outcomes and comorbidities of SCN1A-related seizure disorders
Outcomes and comorbidities of SCN1A-related seizure disorders
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DOI：
10.1016/j.yebeh.2018.09.041
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发表时间：
2019-01-01
影响因子：
2.6
通讯作者：
Brilstra, Eva H.
中科院分区：
文献类型：
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作者：
de Lange, Iris M.;Gunning, Boudewijn;Brilstra, Eva H.
目的：Dravet综合征和非Dravet SCN 1A相关表型之间的区分对于癫痫严重程度、认知发育和合并症的预后非常重要。当一个孩子被诊断为遗传性癫痫伴热性惊厥+（GEFS+）或热性惊厥（FS）时，准确的预后信息也是必不可少的，但关于癫痫发作过程、癫痫发作自由度、药物使用和合并症的详细信息对于这个温和的患者群体来说是缺乏的。在这项横断面研究中，我们探讨了Dravet综合征和非Dravet综合征患者中较轻度SCNTA相关表型的疾病特征以及SCN 1A相关合并症的性质、发生率和关系。评估了164名患有SCN 1A相关癫痫发作的荷兰参与者的队列，包括116名Dravet综合征患者和48名GEFS+，热性惊厥+（FS+）或FS。临床数据收集自病历、半结构式电话访谈和三份问卷：功能活动量表（FMS）、儿科生活质量量表（PedsQL）测量模型和儿童或成人行为检查表（CBCL/ABCL）。行走障碍和严重的行为问题分别影响71%和43%的Dravet综合征患者中，几乎从不出现在非Dravet综合征患者中。这些合并症与较低的生活质量（QoL）评分密切相关。非Dravet综合征患者的合并症不太严重：学习问题和心理/行为问题分别为27%和38%。非Dravet组的平均生活质量评分与一般人群相当。大多数非Dravet综合征的患者在10岁（85%）后成为无脊椎动物。结论：Dravet综合征患者中常见严重的行为问题和行走障碍，在临床管理中应予以特别注意。虽然非Dravet综合征患者的癫痫病程更有利，但该组也经常发生轻度合并症。我们的研究结果可能对临床护理和告知新诊断的患者及其父母预后具有重要价值。(C)2018作者爱思唯尔公司出版
Purpose: Differentiating between Dravet syndrome and non-Dravet SCN1A-related phenotypes is important for prognosis regarding epilepsy severity, cognitive development, and comorbidities. When a child is diagnosed with genetic epilepsy with febrile seizures plus (GEFS+) or febrile seizures (FS), accurate prognostic information is essential as well, but detailed information on seizure course, seizure freedom, medication use, and comorbidities is lacking for this milder patient group. In this cross-sectional study, we explore disease characteristics in milder SCNTA-related phenotypes and the nature, occurrence, and relationships of SCN1A-related comorbidities in both patients with Dravet and non-Dravet syndromes.Methods: A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated, consisting of 116 patients with Dravet syndrome and 48 patients with either GEFS+, febrile seizures plus (FS+), or FS. Clinical data were collected from medical records, semi-structured telephone interviews, and three questionnaires: the Functional Mobility Scale (FMS), the Pediatric Quality of Life Inventory (PedsQL) Measurement Model, and the Child or Adult Behavior Checklists (CBCL/ABCL).Results: Walking disabilities and severe behavioral problems affect 71% and 43% of patients with Dravet syndrome respectively and are almost never present in patients with non-Dravet syndromes. These comorbidities are strongly correlated to lower quality-of-life (QoL) scores. Less severe comorbidities occur in patients with non-Dravet syndromes: learning problems and psychological/behavioral problems are reported for 27% and 38% respectively. The average QoL score of the non-Dravet group was comparable with that of the general population. The majority of patients with non-Dravet syndromes becomes seizure-free after 10 years of age (85%).Conclusions: Severe behavioral problems and walking disabilities are common in patients with Dravet syndrome and should receive specific attention during clinical management. Although the epilepsy course of patients with non-Dravet syndromes is much more favorable, milder comorbidities frequently occur in this group as well. Our results may be of great value for clinical care and informing newly diagnosed patient and their parents about prognosis. (C) 2018 The Authors. Published by Elsevier Inc.