Dueck Alexander, Reis Olaf, Bastian Manuela, van Treeck Lucas, Weirich Steffen, Haessler Frank, Fiedler Andreas, Koelch Michael, Berger Christoph
Department for Psychiatry, Neurology, Psychosomatics and Psychotherapy in Childhood and Adolescence, Rostock University Medical Center, Rostock, Germany.
Institute for Clinical Chemistry and Laboratory Medicine, Rostock University Medical Center, Rostock, Germany.
Front Psychiatry. 2020 May 14;11:361. doi: 10.3389/fpsyt.2020.00361. eCollection 2020.
Sleep, circadian rhythms, (mental) health, and development are assumed to be intertwined. However, differentiated and reliable parameters of sleep and circadian rhythms are particularly difficult to assess for Fragile X (FXS) individuals. As those parameters need to be observed in complex settings, the feasibility of measurements for people with FXS was to be proven. Findings from this pilot study can inform further research and help to estimate sample sizes for future studies on FXS patients.
Nine individuals (male and female) with full mutation of the FMR1 gene were integrated in the study and underwent a complex measurement including actigraphy, sleep log, and 24-h saliva sampling in order to examine profiles of melatonin and cortisol, and a polysomnography.
Seven actigraphy profiles, eight sleep logs, eight saliva profiles and seven polysomnographic data sets were collected. Complete data were analyzed for six individuals [mean age 14.87 years (SD 4.12), mean BMI 25.90 (SD 4.44)] were collected. No drop outs due to the constraints of the assessment were registered.
All assessments and the setting in total were tolerated well by participants and caregivers. Procedures were adapted to individual needs of the participants.
All its components and the setting in total are absolutely feasible in the specific population of FXS individuals. Losses during consenting and recruiting have to be planned as well as high amounts of interindividual variances have to be taken into account.
睡眠、昼夜节律、(心理)健康和发育被认为是相互关联的。然而,对于脆性X综合征(FXS)患者而言,睡眠和昼夜节律的差异化且可靠的参数特别难以评估。由于这些参数需要在复杂环境中进行观察,因此需要证明针对FXS患者进行测量的可行性。这项初步研究的结果可为进一步研究提供参考,并有助于估计未来针对FXS患者的研究样本量。
九名FMR1基因完全突变的个体(包括男性和女性)纳入本研究,他们接受了包括活动记录仪监测、睡眠日志记录以及24小时唾液采样(以检测褪黑素和皮质醇水平)和多导睡眠图在内的综合测量。
收集到七份活动记录仪监测数据、八份睡眠日志、八份唾液检测数据以及七套多导睡眠图数据集。对六名个体[平均年龄14.87岁(标准差4.12),平均体重指数25.90(标准差4.44)]的完整数据进行了分析。未出现因评估限制导致的退出情况。
参与者和照料者对所有评估及整体环境的耐受性良好。程序根据参与者的个体需求进行了调整。
对于FXS个体这一特定人群而言,所有评估项目及其整体环境绝对可行。在同意参与和招募过程中的损耗必须加以规划,同时还必须考虑到个体间的大量差异。