How a young child's level of independence affects family well-being in rare genetic disorders
Examination of Families' Psychological Status and Quality of Life According to the Functional Independence Status of Children With Rare Genetic Diseases in Early Childhood
This study will see if a young child’s day-to-day independence with a rare genetic disorder is linked to their parents' depression, sleep, family functioning, and overall quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Ages | 18 Years to 65 Years |
| Sex | All |
| Sponsor | Bahçeşehir University Academic / other |
| Locations | 1 site (Istanbul) |
| Trial ID | NCT07348926 on ClinicalTrials.gov |
What this trial studies
This observational, cross-sectional study will enroll caregivers of children aged 0–4 with rare genetic disorders who have been receiving physiotherapy at a rehabilitation center in Istanbul. The child's functional independence will be measured with the Pediatric Functional Independence Measure (WeeFIM) and caregivers will be grouped by the child's functional level. Caregiver outcomes—including depression (Beck Depression Inventory), family functioning, family impact, sleep quality, and overall quality of life—will be collected using validated questionnaires. A planned sample of 45 participants was calculated to detect medium effect sizes and the findings aim to inform family-centered physiotherapy and psychosocial support planning.
Who should consider this trial
Good fit: Ideal participants are caregivers who speak Turkish, consent to participate, and care for a 0–4-year-old child with a rare genetic diagnosis who has received physiotherapy for at least six months at the Istanbul rehabilitation center.
Not a fit: Caregivers who cannot complete Turkish questionnaires due to cognitive or language barriers, who decline participation or submit incomplete forms, or whose child has additional medical or neurological conditions will likely not benefit from or be eligible for the study.
Why it matters
Potential benefit: If successful, the results could help tailor family-centered physiotherapy and psychological support to improve caregiver mental health and daily functioning.
How similar studies have performed: Some prior work in chronic pediatric and rehabilitation settings has linked child functional status to caregiver well-being, but focused research specifically on young children with rare genetic disorders is limited.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Caregivers of children aged 0-4 years diagnosed with a rare genetic disorder. * The child must have been receiving physiotherapy for at least 6 months. * Caregivers who voluntarily agree to participate and provide informed consent. * Caregivers who are able to read and understand Turkish to complete the questionnaires. Exclusion Criteria: * Caregivers who have cognitive or language limitations that prevent them from completing the questionnaires. * Caregivers who decline participation or submit incomplete questionnaire forms. * Children or caregivers with an additional medical or neurological condition that prevents participation in the study.
Where this trial is running
Istanbul
- Bahcesehir University — Istanbul, Turkey (Türkiye) (Recruiting)
Study contacts
- Principal investigator: Tuğçe Tahmaz, PhD — Bahçeşehir University
- Study coordinator: Yağmur Erkan, PT
- Email: yagmurerkn@gmail.com
- Phone: +90 506 940 0759
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.