Evidence map›Paper›PMID 41919138›Full record

ArticleFrontiers in neurology

Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy.

Branislav Ralic, Noemi Albano, Vanja Viric, Andi Nuredini, Ana Arsic Azanjac, Sonja Rajic, Ana Marjanovic, Rossella Tupler, Chad Heatwole, Stojan Peric

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Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Branislav RalicDepartment of Neurology, Clinical Hospital Center Zvezdara, Belgrade, Serbia.
Noemi AlbanoDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Vanja ViricNeurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Andi NurediniDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Ana Arsic AzanjacDepartment of Neurology, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia.
Sonja RajicClinic of Neurology, University Clinical Center of Vojvodina, Vojvodina, Serbia.
Ana MarjanovicNeurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Rossella TuplerDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Chad HeatwoleDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, United States.
Stojan PericNeurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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, 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.

Indexed as

disease burdenfacioscapulohumeral muscular dystrophyFSHD-HIquality of lifevalidation

Identifiers

PMID41919138
PMCPMC13033487

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.