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IF 6.6 1区医学 Q1 CLINICAL NEUROLOGY

Epilepsia Pub Date : 2025-03-22 DOI:10.1111/epi.18370

Kentaro Tokumoto, Takuji Nishida, Hitoshi Ikeda, Hiroko Ikeda, Norihiko Kawaguchi, Satoshi Mizutani, Tokito Yamaguchi, Hideyuki Ohtani, Etsuko Yamazaki, Naotaka Usui, Katsumi Imai, Yushi Inoue

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引用次数: 0

摘要

研究目的我们对一组环状染色体20号综合征（r20）患者进行了回顾性研究，旨在提供有关r20在癫痫发作、认知功能、合并症和社会生活方面的预后信息：方法：对本院确诊的r20患者进行识别，并从病历中提取临床数据。我们采用了以下发作结果分类：发作结果良好，即发作不影响日常生活，包括无发作、亚临床放电、睡眠发作或轻度局灶性意识发作；发作结果不佳，即发作影响日常生活。对发作结果良好组和发作结果不佳组的临床变量进行了比较：研究了 47 名患者（64% 为女性）。癫痫发病时的平均年龄为 7.5 ± 3.7（1-15 岁）。嵌合率为 33 ± 24%（范围为 1%-97%）。14名患者（30%）被归入癫痫发作预后良好组，33名患者（70%）被归入癫痫发作预后不良组。多变量分析发现，较低的嵌合率和较高的拉莫三嗪使用率是癫痫发作预后良好的独立相关因素。最有效的药物是拉莫三嗪（69%），其次是丙戊酸钠（43%）和其他钠通道阻滞剂。27名患者（57%）存在智力障碍，8名（17%）存在自闭症谱系障碍，10名（21%）存在精神症状。在 30 名成年患者中，7 人（23%）已就业，5 人（17%）曾就业但在最近一次随访时失业，3 人（10%）因残疾而就业，6 人（20%）接受就业支持，3 人（10%）是大学生，6 人（20%）无就业史。25 名患者（83%）与家人住在一起。两名患者（7%）已婚：在 20 名患者中，有 30% 的患者在接受药物治疗后癫痫发作得到改善，对日常生活的影响降至最低。拉莫三嗪的使用与良好的癫痫发作结果有关。就业、居住和婚姻方面的社会制约因素非常明显，表明需要全面的癫痫护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.

Objective: We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living.

Methods: Patients diagnosed with r20 in our hospital were identified, and clinical data were extracted from medical records. We used the following seizure outcome classification: favorable seizure outcome, a condition in which seizures do not interfere with daily life, including no seizures, subclinical discharges, sleep seizures or mild focal aware seizures; poor seizure outcome, a condition in which seizures interfere with daily life. Clinical variables were compared between favorable and poor seizure outcome groups.

Results: Forty-seven patients (64% female) were studied. Mean age ± standard deviation (SD) at epilepsy onset was 7.5 ± 3.7 (range 1-15) years. Mosaicism rate was 33 ± 24% (range 1%-97%). Fourteen patients (30%) were classified in the favorable seizure outcome group and 33 (70%) in the poor seizure outcome group. Multivariable analysis identified lower mosaicism rate and higher rate of lamotrigine use as independent factors associated with a favorable seizure outcome. The most effective drug was lamotrigine (69%), followed by valproate (43%) and other sodium channel blockers. Intellectual disability was present in 27 patients (57%), autism spectrum disorder in 8 (17%), and psychiatric symptoms in 10 (21%). Of 30 adult patients, 7 (23%) were employed, 5 (17%) were employed previously but unemployed at the last follow-up, 3 (10%) were employed as disabled, 6 (20%) received employment support, 3 (10%) were college students, and 6 (20%) had no employment history. Twenty-five patients (83%) lived with their families. Two patients (7%) were married.

Significance: In 30% of r20 patients, drug treatment improved seizures to a degree minimally disruptive to daily life. Lamotrigine use was associated with favorable seizure outcome. Social constraints in employment, residence, and marriage were significant, indicating the need for comprehensive epilepsy care.

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来源期刊

Epilepsia 医学-临床神经学

CiteScore

10.90

自引率

10.70%

发文量

319

审稿时长

2-4 weeks

期刊介绍： Epilepsia is the leading, authoritative source for innovative clinical and basic science research for all aspects of epilepsy and seizures. In addition, Epilepsia publishes critical reviews, opinion pieces, and guidelines that foster understanding and aim to improve the diagnosis and treatment of people with seizures and epilepsy.