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

NCT07348926 | Recruiting

• 1 other identifier: BAU-FTR-YE-01
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders. The focus of the study is to understand how the child's level of functional independence relates to the well-being of the family. Functional independence will be assessed using standardized tools, and parental psychological status and quality of life will be evaluated with validated questionnaires. The information gathered from this study may help improve the understanding of how rare genetic disorders affect family dynamics and daily functioning. The results may guide health care professionals in planning family-centered physiotherapy, psychological support, and care programs.

Conditions

Rare Genetic Disorders; Quality of Life; Functional Impairment

Keywords

Rare Genetic Disorders; physical therapy; Depression; Quality of Life; Family

Outcome Measures

Primary Outcomes (1)

• Functional Independence Level of the Child (WeeFIM)

  The functional independence level of children with rare genetic disorders will be assessed using the Pediatric Functional Independence Measure (WeeFIM). This scale evaluates functional abilities in self-care, mobility, and cognition. Higher scores indicate greater functional independence.

  At baseline (study enrollment)

Secondary Outcomes (5)

• Beck Depression Inventory (BDI)

  At baseline (study enrollment)

• Family Functionality in Rehabilitation

  At baseline (study enrollment)

• Family Impact (Family Impact Scale)

  At baseline (study enrollment)

• Sleep Quality (Pittsburgh Sleep Quality Index - PSQI)

  At baseline (study enrollment)

• Quality of Life (Nottingham Health Profile - NHP)

  At baseline (study enrollment)

Study Arms (2)

Lower Functional Independence

Children with rare genetic disorders whose functional independence level is lower based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study.

Higher Functional Independence

Children with rare genetic disorders whose functional independence level is higher based on the Pediatric Functional Independence Measure (WeeFIM). Caregivers of these children are included in the study.

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of caregivers of children aged 0-4 years who have been diagnosed with rare genetic disorders and receive physiotherapy services at a rehabilitation center in Istanbul, Turkey. Participants are primary caregivers responsible for the child's daily care and able to complete Turkish-language questionnaires. The population reflects a clinical sample receiving ongoing rehabilitation, rather than a community-based or general population sample

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Bahçeşehir University: lead

Study Sites (1)

Bahcesehir University

Istanbul, 34053, Turkey (Türkiye)

RECRUITING

MeSH Terms

Conditions

Depression

Condition Hierarchy (Ancestors)

Behavioral Symptoms; Behavior

Study Officials

• Tuğçe Tahmaz, PhD

  Bahçeşehir University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Yağmur Erkan, PT

CONTACT

+90 506 940 0759; yagmurerkn@gmail.com

Tuğçe Tahmaz, PhD

CONTACT

+905330397791; tugcetahmaz@msn.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Graduate Student Researcher

Study Record Dates

• First Submitted: December 11, 2025
• First Posted: January 16, 2026
• Study Start: October 25, 2025
• Primary Completion: February 25, 2026
• Study Completion: March 15, 2026
• Last Updated: January 16, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)