How a young child's level of independence affects family well-being in rare genetic disorders
Official title: Examination of Families' Psychological Status and Quality of Life According to the Functional Independence Status of Children With Rare Genetic Diseases in Early Childhood
Run by Bahçeşehir University · NCT07348926 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 18 Years to 65 Years |
| Sex | All |
| Enrollment | 45 (estimated) |
| Sponsor | Bahçeşehir University Academic / other |
| Locations | 1 site (Istanbul) |
| Status | Recruiting |
| Started | October 25, 2025 |
| Main results expected | February 25, 2026 |
| Study ends | March 15, 2026 |
| Registry record updated | January 16, 2026 |
| Trial ID | NCT07348926 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.