目的:睡眠障碍在神经发育障碍(NDD)中很常见,影响患者和护理人员的生活质量。SYNGAP1相关综合征,一种罕见的NDD,以智力残疾为标志,发育迟缓,癫痫,和睡眠问题。然而,对这些人睡眠质量的研究是有限的。本研究旨在评估遗传变异,癫痫,SYNGAP1相关综合征患者及其护理人员的睡眠模式。
方法:一项在线调查应用于11名被诊断患有SYNGAP1相关综合征的个体的照顾者。包括具体的临床调查,解决分娩问题,以前的手术,和药物使用。关于癫痫的询问包括癫痫类型,癫痫发作的类型和频率,抗癫痫药物,和补充非药物治疗。儿童睡眠习惯问卷(CSHQ)用于评估患者的睡眠状况。采用匹兹堡睡眠质量指数(PSQI)评价护理人员的睡眠质量。
结果:遗传分析显示SYNGAP1发生杂合突变,常导致功能丧失。82%的参与者出现癫痫,77.8%的人患有抗药性癫痫。使用儿童睡眠习惯问卷(CSHQ),81.8%的患者表现出不良的睡眠习惯,包括睡前阻力,焦虑,夜间觉醒,parasomnias,和白天嗜睡。根据匹兹堡睡眠质量指数(PSQI),护理人员还报告了睡眠质量差。
结论:这项研究强调了SYNGAP1相关综合征中癫痫和睡眠问题的高患病率,影响患者和护理人员。进一步的研究对于了解该综合征对睡眠障碍的影响至关重要,强调需要有针对性的干预措施,以改善罕见遗传综合征患者及其照顾者的睡眠质量。
OBJECTIVE: Sleep disturbances are common in neurodevelopmental disorders (NDDs), affecting patients and caregivers\' quality of life. SYNGAP1-associated syndrome, a rare NDD, is marked by intellectual disability, developmental delay, epilepsy, and sleep issues. However, research on sleep quality in these individuals is limited. This study aimed to evaluate genetic variants, epilepsy, and sleep patterns in SYNGAP1-associated syndrome patients and their caregivers.
METHODS: An online survey was applied to 11 caregivers of individuals diagnosed with SYNGAP1-associated syndrome. Specific clinical inquiries were included, addressing childbirth, previous surgeries, and medication use. Inquiries about epilepsy included type of epilepsy, type and frequency of seizures, anti-seizure medications, and complementary non-pharmacological treatments. Children\'s Sleep Habits Questionnaire (CSHQ) was applied to assess the patients\' sleep profile. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate the sleep quality of caregivers.
RESULTS: Genetic analysis showed heterozygous mutations in SYNGAP1, often leading to loss of function. Epilepsy was present in 82% of participants, with 77.8% having drug-resistant seizures. Using the Children\'s Sleep Habits Questionnaire (CSHQ), 81.8% of patients exhibited poor sleep habits, including bedtime resistance, anxiety, night awakenings, parasomnias, and daytime sleepiness. Caregivers also reported poor sleep quality according to the Pittsburgh Sleep Quality Index (PSQI).
CONCLUSIONS: This study highlights the high prevalence of epilepsy and sleep problems in SYNGAP1-associated syndrome, impacting both patients and caregivers. Further research is crucial to understand the syndrome\'s effects on sleep disturbances, emphasizing the need for targeted interventions to improve sleep quality in individuals with rare genetic syndromes and their caregivers.