Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
American Journal of Medical Genetics Part A Pub Date : 2026-10-09 Epub Date: 2026-06-01 DOI:10.1002/ajmg.a.70217
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson
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引用次数: 0

Abstract

Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults. Additionally, the influence of clinical features and commonly used medications on sleep is not well understood. This study assessed sleep disorders in adults with TSC and examined contributing clinical and treatment factors. Adults were recruited through the TSC Alliance and the TSC Center of Excellence (CoE) at UTHealth Houston. Sleep quality was assessed using the Pittsburgh Sleep Quality Index, and demographic, clinical, lifestyle, and medication information was collected from 84 adults. Descriptive and inferential statistics were applied, with significance set at p < 0.05. Overall, 64% (n = 54) met criteria for poor sleep, significantly higher than rates reported in neurotypical adults (p < 0.001). Participants with mental illness or anxiety more frequently reported sleep issues (p = 0.009, p = 0.04). Poor sleep was also associated with use of mTOR inhibitors, antiepileptic drugs, and antidepressants (p AD = 0.016, p mTORi < 0.001, p AEDs = 0.045). These results highlight sleep disruption as a common and clinically relevant feature of TSC and emphasize the need for providers to assess sleep carefully, considering both clinical signs and medication effects when developing management plans.

成人结节性硬化症患者的睡眠障碍:治疗和临床特征的影响
结节性硬化症(TSC)是一种具有多系统神经皮肤体征的遗传性疾病,包括错构瘤、癫痫和神经心理障碍。尽管睡眠障碍在TSC中被越来越多地认识到,但在成人中仍然很少被描述。此外,临床特征和常用药物对睡眠的影响尚不清楚。本研究评估了成人TSC患者的睡眠障碍,并检查了相关的临床和治疗因素。成人通过休斯顿UTHealth的TSC联盟和TSC卓越中心(CoE)招募。使用匹兹堡睡眠质量指数评估睡眠质量,并收集了84名成年人的人口统计、临床、生活方式和药物信息。采用描述性统计和推断性统计,p AD = 0.016, pmTORi aed = 0.045)。这些结果强调睡眠中断是TSC的常见和临床相关特征,并强调提供者需要仔细评估睡眠,在制定管理计划时考虑临床症状和药物效果。
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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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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