Psychiatrische und soziale Aspekte bei Patienten mit fragilem X-Syndrom (FRX)

Pittrow, David; Gaese, Franziska; Colla, Michael; Huß, Michael; Kretschmar, Christoph; Brinkman, Marc; Peters, Helmut; Elstner, Samuel; Weirich, Steffen; Häßler, Frank

doi:10.1055/s-0034-1387517

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“…FXS is often accompanied by psychiatric symptoms, such as ADHD-like behavior, ASD and challenging behavior (39) which often leads to pharmacological treatment (40). Gender differences in FXS´psychopathology are well established.…”

Section: Saliva Samplesmentioning

confidence: 99%

Feasibility of a Complex Setting for Assessing Sleep and Circadian Rhythmicity in a Fragile X Cohort

et al. 2020

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Introduction: 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. Methods and Sample: 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. Results: 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. Discussion: All assessments and the setting in total were tolerated well by participants and caregivers. Procedures were adapted to individual needs of the participants. Conclusion: 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.

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Section: Saliva Samplesmentioning

confidence: 99%