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 (pAD = 0.016, pmTORi < 0.001, pAEDs = 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.
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 .