Epilepsy Center-Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST SS. Paolo e Carlo, San Paolo Hospital, Milan, Italy.
Department of Health Sciences, University of Milan, Milan, Italy.
Am J Med Genet A. 2021 May;185(5):1421-1429. doi: 10.1002/ajmg.a.62123. Epub 2021 Mar 1.
Sleep disorders are frequent in tuberous sclerosis complex (TSC) during the developmental age but are not well characterized. Forty-six TSC patients and 46 healthy age- and sex-matched controls were enrolled. Their parents completed the Sleep Disturbances Scale for Children (SDSC) and the Child Behavior Checklist (CBCL). A total of 17.4% of the TSC patients obtained a total pathologic score at the SDSC versus 4.4% in the control group (p = 0.024). 45.7% of individuals with TSC reported a pathologic score in at least one of the factors. We found a statistically significant difference between the TSC cohort and healthy controls for most of the CBCL scales scores. A significant relationship was found between the Total SDSC score and the Total CBCL score (R-square = 0.387, p < 0.0001), between the Total SDSC score and the Internalizing and Externalizing areas scores (R-square = 0.291, p < 0.0001 and R-square = 0.350, p < 0.0001, respectively) of the CBCL. Sleep disorders are more frequent in TSC than in the general population and correlate with behavior. The use of SDSC and CBCL is proposed as part of the surveillance of TSC patients in the developmental age.
睡眠障碍在结节性硬化症（TSC）发育年龄较为常见，但尚未得到充分描述。我们招募了 46 名 TSC 患者和 46 名年龄和性别匹配的健康对照者。他们的父母完成了儿童睡眠障碍量表（SDSC）和儿童行为检查表（CBCL）。与对照组的 4.4%相比，TSC 患者中共有 17.4%获得 SDSC 的总分病理评分（p = 0.024）。45.7%的 TSC 患者在至少一个因素中报告了病理评分。我们发现 TSC 队列与健康对照组在大多数 CBCL 量表评分上存在统计学差异。SDSC 总分与 CBCL 总分之间存在显著相关性（R 平方= 0.387，p < 0.0001），SDSC 总分与内化和外化区域评分之间存在显著相关性（R 平方= 0.291，p < 0.0001 和 R 平方= 0.350，p < 0.0001）。与一般人群相比，TSC 患者的睡眠障碍更为常见，且与行为有关。建议将 SDSC 和 CBCL 用于 TSC 患者发育年龄的监测。
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