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

Abstract

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.

Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study

“…In addition to the assessments performed during every clinic visit, information on adverse events, concomitant medication use, and suicidality were collected during phone calls at the end of weeks 1, 4, 8, and 10. The caregiver or legally acceptable representative (LAR) completed paper sleep diaries on behalf of participants, and participants wore actigraphs (wrist-worn sleep monitors) (Dueck et al, 2020) for 7 days immediately preceding the baseline, week 2, week 6, EOT, and EOS visits.…”

Applicability of Actigraphy for Assessing Sleep Behaviour in Children with Palliative Care Needs Benchmarked against the Gold Standard Polysomnography

“…A small number of cases was considered appropriate for sampling, considering the intricate conditions of study inclusion, respectively, the small achievable population. For its definition, studies with a similar design and children with complex underlying diseases were considered, ranging from N = 9–11 children [ 28 , 31 , 32 ], so that the target number of children for this study was set at approximately N = 10.…”

How Knowledge Mapping Can Bridge the Communication Gap Between Caregivers and Health Professionals Supporting Individuals With Complex Medical Needs: A Study in Fragile X Syndrome

“…More importantly, FXS illustrates the complexity of symptoms and the challenges in communication between caregivers and healthcare professionals seen in most NDDs. Indeed, individuals with FXS present clinically with a wide spectrum of symptoms and comorbid conditions, including core cognitive and adaptive function challenges (25), speech delay (26,27), autism spectrum traits (28)(29)(30)(31), sleep issues (32)(33)(34), challenging behavior (35), anxiety (36), and mental health issues (37). FXS is also an excellent model for understanding changing needs over a lifespan as, like most NDDs, it is a lifelong condition where the health, educational, and social needs of individuals evolve over time, making care even more complex and challenging for parents and health professionals (38).…”