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Published on: January 12, 2019
Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy
Branislav Ralic1, Noemi Albano2, Vanja Viric3
1Department of Neurology, Clinical Hospital Center Zvezdara, Belgrade, Serbia.
Insights
The Serbian version of the FSHD-HI (FSHD-HI-RS) is a reliable and valid tool for measuring disease burden in facioscapulohumeral muscular dystrophy (FSHD) patients. This understandable and easy-to-use questionnaire captures disease-specific features effectively.
Area of Science:
- Neurology
- Rehabilitation Medicine
- Quality of Life Research
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) poses a significant disease burden.
- Existing generic quality of life (QoL) questionnaires may not capture disease-specific features of FSHD.
- A validated disease-specific measure is needed for Serbian FSHD patients.
Purpose of the Study:
- To adapt and validate the FSHD-Health Index (FSHD-HI) for Serbian patients with FSHD.
- To establish the reliability and validity of the Serbian version of the FSHD-HI (FSHD-HI-RS) for measuring disease burden.
Main Methods:
- Forty-one genetically confirmed FSHD1 patients participated.
- Validation included reliability (internal consistency, test-retest) and validity (content, construct, criterion) analyses.
- Patients completed the FSHD-HI-RS, Comprehensive Clinical Evaluation Form (CCEF), and Serbian SF-36 (Short Form Health Survey).
Main Results:
- FSHD-HI-RS was found to be understandable, with appropriate and simple language.
- Excellent internal consistency (Cronbach's alpha >0.90) and good test-retest reliability (ICC=0.91) were demonstrated.
- Significant correlations were found between FSHD-HI-RS scores and disease duration, muscle strength (MRC sum score), CCEF, and SF-36 scores.
Conclusions:
- The FSHD-HI-RS is an understandable, reliable, and valid instrument for assessing disease burden in Serbian FSHD patients.
- The questionnaire is easy to administer and complete.
- FSHD-HI-RS effectively captures disease-specific aspects of FSHD, complementing generic QoL measures.
Background:
This study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.
Patients And Method:
Forty-one patients with genetically confirmed FSHD1 were included in the study. Validation involved reliability analysis (internal consistency), content validity, construct validity, and criterion validity analyses. The Comprehensive Clinical Evaluation Form (CCEF) was employed to capture various FSHD phenotypes. All patients completed the Serbian version of the Short Form Health Survey (SF-36) questionnaire, serving as a generic measure of the health-related quality of life (QoL).
Results:
All patients found Serbian version of FSHD-HI (FSHD-HI-RS) understandable and that the language was appropriate and simple. The internal consistency of FSHD-HI-RS was excellent for the whole questionnaire (Cronbach's alpha >0.90). Test-retest reliability met the required level (intraclass correlation coefficient 0.91). FSHD-HI scores showed significant correlations with disease duration (rho = 0.564, p < 0.01), muscle strength measured with Medical Research Council (MRC) sum score (rho = -0.708, p < 0.01), and CCEF (rho = +0.716, p < 0.01). FSHD-HI total score correlated significantly with the total SF-36 score (rho = -0.733, p < 0.01).
Conclusion:
Our data demonstrate that FSHD-HI-RS is an understandable, reliable, and valid measure of the disease burden in FSHD. It is easy to administer and complete, and it can capture disease-specific features that may be omitted with generic QoL questionnaires.
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