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

NCT ID: NCT07348926

Last Updated: 2026-01-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

45 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-25

Study Completion Date

2026-03-15

Brief Summary

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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.

Detailed Description

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This observational, descriptive, and cross-sectional study aims to examine the associations between the functional independence levels of young children diagnosed with rare genetic disorders and various psychosocial outcomes of their caregivers, including depression, family functioning, sleep quality, and overall quality of life. Rare genetic disorders often begin in early childhood, require long-term medical follow-up and rehabilitation, and may negatively affect both the daily routines and psychosocial well-being of families. In this context, understanding family-centered physiotherapy and its role as a protective factor is crucial for strengthening family systems and supporting rehabilitation success.

The study population consists of caregivers of children aged 0-4 years with rare genetic diagnoses who are receiving physiotherapy at a rehabilitation center in Istanbul. A sample size of 45 participants was calculated based on Cohen's effect size approach, assuming a medium effect size (d = 0.5).

Functional independence of the child will be assessed using the Pediatric Functional Independence Measure (WeeFIM). Based on WeeFIM scores, parents will be categorized into two groups according to the child's functional level. Caregiver depression levels will be assessed using the Beck Depression Inventory; family functioning will be evaluated with the Family Functionality in Rehabilitation Scale; family impact will be measured with the Family Impact Scale; sleep quality will be evaluated using the Pittsburgh Sleep Quality Index; and quality of life will be assessed using the Nottingham Health Profile. Demographic information and details of physiotherapy participation will also be collected.

Data collection will begin after ethical approval and will last approximately three months. Following informed consent, all participants will complete the questionnaires in Turkish. The findings of this study are expected to provide a comprehensive understanding of the multidimensional challenges faced by families of children with rare genetic disorders and may guide the development of family-centered physiotherapy, psychosocial interventions, and supportive care programs.

Conditions

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Rare Genetic Disorders Quality of Life Functional Impairment

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Bahçeşehir University

OTHER

Sponsor Role lead

Responsible Party

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Yağmur Erkan

Graduate Student Researcher

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Tuğçe Tahmaz, PhD

Role: PRINCIPAL_INVESTIGATOR

Bahçeşehir University

Locations

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Bahcesehir University

Istanbul, , Turkey (Türkiye)

Site Status RECRUITING

Countries

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Turkey (Türkiye)

Central Contacts

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Yağmur Erkan, PT

Role: CONTACT

+90 506 940 0759

Tuğçe Tahmaz, PhD

Role: CONTACT

+905330397791

Facility Contacts

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Yağmur Erkan, PT

Role: primary

Tuğçe Tahmaz, PhD

Role: backup

+905330397791

Other Identifiers

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BAU-FTR-YE-01

Identifier Type: -

Identifier Source: org_study_id

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