Miano Silvia, Bruni Oliviero, Elia Maurizio, Scifo Lidia, Smerieri Arianna, Trovato Alessia, Verrillo Elisabetta, Terzano Mario G, Ferri Raffaele
Department of Pediatrics, Sleep Centre, "La Sapienza" University, S. Andrea Hospital, Rome, Italy.
Clin Neurophysiol. 2008 Jun;119(6):1242-7. doi: 10.1016/j.clinph.2008.03.004. Epub 2008 Apr 15.
To analyze sleep architecture and NREM sleep alterations by means of the Cyclic Alternating Pattern (CAP) in children with Down syndrome (DS) and Fragile-X syndrome (fraX), the two most common causes of inherited mental retardation, in order to find out eventual alterations of their sleep microstructure related to their mental retardation phenotypes.
Fourteen patients affected by fraX (mean age 13.1 years) and 9 affected by Down syndrome (mean age 13.8 years) and 26 age-matched normal controls were included. All subjects underwent overnight polysomnography in the sleep laboratory, after one adaptation night and their sleep architecture and CAP were visually scored.
FraX subjects showed a reduced time in bed compared to DS subjects, whereas DS subjects showed a lower sleep efficiency, a higher percentage of wakefulness after sleep onset, and a reduced percentage of stage 2 NREM compared to the other groups. Furthermore, DS and fraX subjects, compared to normal controls, showed a higher percentage of stage 1 NREM and a lower percentage of REM sleep. FraX subjects showed the most disrupted sleep microstructure with low total CAP rate and CAP rate in S2 NREM. Both patient groups showed a lower percentage of A1 and higher percentage of A2 and A3 compared to normal controls.
The analysis of CAP might be able to disclose new important findings in the sleep architecture of children with mental retardation and might characterize sleep microstructural patterns of the different phenotypes of intellectual disability.
The NREM sleep microstructure alterations found in our subjects, associated with the reduction in REM sleep percentage, seem to be distinctive features of intellectual disability.
通过周期性交替模式(CAP)分析唐氏综合征(DS)和脆性X综合征(fraX)患儿的睡眠结构及非快速眼动(NREM)睡眠改变,这两种疾病是遗传性智力障碍最常见的病因,旨在找出其与智力障碍表型相关的睡眠微观结构的最终改变。
纳入14例脆性X综合征患儿(平均年龄13.1岁)、9例唐氏综合征患儿(平均年龄13.8岁)以及26例年龄匹配的正常对照。所有受试者在睡眠实验室经过一个适应夜后进行整夜多导睡眠监测,并对其睡眠结构和CAP进行视觉评分。
与唐氏综合征患儿相比,脆性X综合征患儿卧床时间减少;而与其他组相比,唐氏综合征患儿睡眠效率较低,睡眠起始后清醒时间百分比更高,且NREM 2期百分比降低。此外,与正常对照相比,唐氏综合征和脆性X综合征患儿NREM 1期百分比更高,快速眼动(REM)睡眠百分比更低。脆性X综合征患儿睡眠微观结构破坏最严重,总CAP率及NREM 2期CAP率均较低。与正常对照相比,两组患儿A1百分比均较低,A2和A3百分比均较高。
CAP分析可能有助于揭示智力障碍患儿睡眠结构中的新的重要发现,并可能对不同智力残疾表型的睡眠微观结构模式进行特征描述。
我们研究对象中发现的NREM睡眠微观结构改变,与REM睡眠百分比降低相关,似乎是智力残疾的显著特征。