Study of Family Well-being and Psychological Health Related to Functional Independence in Young Children With Rare Genetic Disorders

What this Trial Is About

Researchers are investigating how the level of functional independence in young children with rare genetic disorders relates to the psychological well-being and quality of life of their families. This observational, descriptive, and cross-sectional study focuses on caregivers of children aged 0 to 4 years who have rare genetic diagnoses and are receiving physiotherapy. Understanding these relationships may help improve family-centered care and support programs. The study divides caregivers into two groups based on their childs functional independence level measured by the Pediatric Functional Independence Measure WeeFIM. Various validated questionnaires will assess caregiver depression, family functioning, family impact, sleep quality, and overall quality of life. Demographic data and physiotherapy participation details will also be collected. Data collection will last about three months following ethical approval and informed consent. Participants will complete questionnaires in Turkish at the start of the study. The primary measure is the childs functional independence level, while secondary measures include caregiver depression, family functioning, family impact, sleep quality, and quality of life. The study aims to provide a detailed understanding of the challenges families face and guide the development of supportive physiotherapy and psychosocial interventions. The total study duration is approximately three months from enrollment.

The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders