The sleep profile of caregivers of individuals with rare genetic syndromes and its impact on their quality of life.

• Grant number: 24/20294-3
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: June 01, 2025
• End date: May 31, 2026
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Sergio Tufik
• Grantee: Manuella Almada de Oliveira Pinto
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Introduction: Sleep is a fundamental process for maintaining physical and mental health, enabling bodily recovery, emotional processing, and memory consolidation. Its importance spans all aspects of life, influencing the immune system and promoting homeostasis. For caregivers of individuals with rare genetic syndromes, sleep assumes even greater significance due to the sustained demands of daily support. Sleep disturbances in this context are closely linked with the unique challenges of neurogenetic syndromes, underscoring the physical and emotional burden on caregivers, who are typically close family members. Objective: To investigate caregivers' sleep profiles, analyze the correlation between sleep and quality of life, and compare these variables with those of caregivers of neurotypical individuals. Methodology: Participants will be recruited from ongoing projects on sleep disorders in individuals with rare genetic syndromes, such as Cri du Chat, Cornelia de Lange, and syndromes associated with SYNGAP1, and DEAF1 genes. Caregivers of diagnosed neurodivergent individuals will be included, along with caregivers of neurotypical individuals matched by age and sex. Inclusion criteria specify that individuals with rare genetic syndromes must be aged 3 to 18 years, with a confirmed genetic diagnosis, and caregivers must be over 18 years old. Sleep quality will be assessed using the Pittsburgh Sleep Quality Index (PSQI) and the Epworth Sleepiness Scale (ESS). Caregivers will also maintain detailed sleep diaries. Psychosocial assessments will include the WHO Quality of Life Questionnaire (WHOQOL-BREF), the Beck Anxiety Inventory (BAI), and the Beck Depression Inventory (BDI). Statistical analyses will be conducted in Jamovi, using targeted approaches for each objective, with sex and age as control covariates and significance set at p<0.05. Expected Results: This study aims to provide an in-depth understanding of the relationship between sleep and quality of life in caregivers of individuals with rare genetic syndromes. (AU)