Diagnostic and therapeutic strategies of circadian rhythm and sleep-wake disorders in at-risk populations

Les recommandations en matière de santé du sommeil préconisent 7 à 9 heures de sommeil par nuit pour la population générale. Pourtant, la dette chronique de sommeil persiste et présente des risques importants pour la santé, notamment en termes de maladies métaboliques, cardiovasculaires et neurocognitives. Cette dette chronique de sommeil est souvent attribuée au conflit entre le mode de vie moderne - l'éclairage artificiel et les obligations sociales - et nos rythmes circadiens endogènes, ce qui conduit à une perturbation appelée le désalignement circadien. Les rythmes circadiens sont les oscillations naturelles des processus physiologiques. Ces rythmes sont essentiels pour aligner nos processus physiologiques et comportementaux sur le temps solaire afin d'anticiper les changements dans notre environnement. Le désalignement circadien est de plus en plus souvent incriminé dans divers états pathologiques. Le diagnostic des troubles des rythmes circadiens ou rythmes veille/sommeil reste difficile en pratique, car sa définition repose en partie sur des évaluations subjectives de la qualité du sommeil. Les questionnaires et les agendas de sommeil bien qu’ils soient des outils validés établissent des mesures indirectes de notre chronotype et des rythmes veille/sommeil. Le gold standard pour l’évaluation de notre rythmicité circadienne est la mesure biologique de la sécrétion de la mélatonine. Ceci souligne la nécessité d'améliorer les méthodes de diagnostic afin de mieux identifier la prévalence de ces troubles et ainsi pouvoir proposer des mesures thérapeutiques adaptée. Ceci pourrait contribuer à prévenir le développement de pathologies en liens avec ce désalignement circadien. Dans ce contexte, notre travail s’intéresse à la prévalence, les facteurs de risque et les conséquences des désalignements circadiens, chez des populations particulièrement à risque comme les étudiants-sportifs et les patients de soins intensifs, où les donneurs de temps sont perturbés ; générant des conséquences en termes d’altération des performances et du pronostic. Ce travail comprend les résultats de trois études et une revue de littérature sur la prévalence des troubles des rythmes veille/sommeil, leurs facteurs de risque, les conséquences et les traitements potentiels dans les populations des étudiants-sportifs et des patients de soins intensifs.Sleep health guidelines advocate for 7 to 9 hours of nightly sleep for the general population, yet sleep debt persists, presenting significant health risks, including metabolic, cardiac, mental, and neurocognitive diseases. This widespread sleep debt is often attributed to the conflict between modern lifestyles—characterized by artificial lighting, shift work, and social obligations—and our innate circadian rhythms, leading to a condition known as circadian dysrhythmia. Circadian rhythms are the natural oscillations in physiological processes that are essential for aligning genetic, physiological, and behavioral patterns with solar time to anticipate changes in our environment. The misalignment of these rhythms is increasingly linked to various health disorders. Diagnosing circadian rhythms and sleep/wake disorders poses challenges, as part of its definition relies on subjective assessments and clinical evaluations of sleep quality. Moreover, sleep/wake timing or chronotype questionnaires, although validated, may not accurately reflect individual circadian clocks. While melatonin measurement is considered the gold standard, its practical implementation is difficult, making actigraphy and sleep logs more common tools for identifying circadian rhythms and sleep/wake disorders. This highlights the need for improved diagnostic methods. Potential therapeutic interventions could help improve circadian dysrhythmias related health outcomes. In this context, this manuscript delves into the prevalence, risk factors, and consequences of circadian rhythms and sleep/wake disorders, particularly focusing on at-risk populations like student-athletes and critically ill patients, where misaligned zeitgebers exacerbate health risks. This work includes three studies’ findings and one narrative review on circadian rhythm and sleep/wake disorders, their risk factors, consequences, and potential treatments in populations prioritizing performance (student-athletes) and recovery (critically ill patients)

Prevalence and Risk Factors of Poor Sleep Quality in Collegiate Athletes during COVID-19 Pandemic: A Cross-Sectional Study

The COVID-19 pandemic has changed our lifestyle, sleep and physical activity habits. This study evaluated the prevalence of poor sleep quality, its disrupters, and the impact of the pandemic in collegiate athletes. We performed a cross-sectional study of collegiate athletes (N = 339, median age: 20 (IQR,19–21) years old, 48.5% female, 47% individual sports) who received a web-based questionnaire in April 2021. This survey included subject characteristics, chronotype, sleep disrupters, the changes due to the pandemic and sleep quality (Pittsburg Sleep Quality Index [PSQI]). A multivariate linear regression was performed to assess the relationship between sleep quality, gender, chronotype, sleep disrupters and the changes to training volume or sleep. Results showed a disrupted sleep quality in 63.7%. One in five students had a total sleep time under 6.5 h per night. Poor sleep quality was significantly correlated with nocturnal concerns related to the pandemic, evening chronotype, female gender, third year of study, caffeine consumption and lack of sleep routine (all p < 0.05). To conclude, poor sleep quality is common in collegiate athletes. Sleep disrupters remain prevalent in the lifestyle habits of this population and may have been exacerbated by changes related to the COVID-19 pandemic. Sleep hygiene should become a major aspect of sports education during the return to post-covid normality

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy

Characteristics, management, and prognosis of elderly patients with COVID-19 admitted in the ICU during the first wave: insights from the COVID-ICU study

International audienceBackground: The COVID-19 pandemic is a heavy burden in terms of health care resources. Future decision-making policies require consistent data on the management and prognosis of the older patients (> 70 years old) with COVID-19 admitted in the intensive care unit (ICU). Methods: Characteristics, management, and prognosis of critically ill old patients (> 70 years) were extracted from the international prospective COVID-ICU database. A propensity score weighted-comparison evaluated the impact of intubation upon admission on Day-90 mortality. Results: The analysis included 1199 (28% of the COVID-ICU cohort) patients (median [interquartile] age 74 [72–78] years). Fifty-three percent, 31%, and 16% were 70–74, 75–79, and over 80 years old, respectively. The most frequent comorbidities were chronic hypertension (62%), diabetes (30%), and chronic respiratory disease (25%). Median Clinical Frailty Scale was 3 (2–3). Upon admission, the PaO2/FiO2 ratio was 154 (105–222). 740 (62%) patients were intubated on Day-1 and eventually 938 (78%) during their ICU stay. Overall Day-90 mortality was 46% and reached 67% among the 193 patients over 80 years old. Mortality was higher in older patients, diabetics, and those with a lower PaO2/FiO2 ratio upon admission, cardiovascular dysfunction, and a shorter time between first symptoms and ICU admission. In propensity analysis, early intubation at ICU admission was associated with a significantly higher Day-90 mortality (42% vs 28%; hazard ratio 1.68; 95% CI 1.24–2.27; p < 0·001). Conclusion: Patients over 70 years old represented more than a quarter of the COVID-19 population admitted in the participating ICUs during the first wave. Day-90 mortality was 46%, with dismal outcomes reported for patients older than 80 years or those intubated upon ICU admission