Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study


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Yanmaz G., Gürsoy E.

JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, cilt.8, sa.2, ss.441-447, 2024 (ESCI, TRDizin) identifier

Özet

ABSTRACT

Purpose: Early diagnosis of Spinal Muscular Atrophy (SMA) is crucial. This study assesses the awareness

and attitudes toward SMA screening among individuals preparing for marriage.

Material and Methods: This cross-sectional study was conducted in three family health centers in the

central district of Erzincan from June to September 2023. A researcher-designed 15-item instrument was

utilized to collect demographic data and assess knowledge and attitudes regarding SMA among

participants.

Results: The study was participated in by 197 individuals, with an average age determined to be

29.45±7.48. The proportion of those supporting the implementation of SMA screening was 84.8% (n=167),

while the intention to undergo the test was identified at 72.6% (n=143).

A significant relationship was found between the willingness to be tested and variables such as the level

of education, the absence of disabled close relatives, not considering SMA to be genetically inherited,

finding screenings appropriate, the perceived impact of test results on marriage, and the belief that

screening could not be conducted after marriage.

Conclusion: While most recognized SMA's severity, there's a notable deficit in understanding its

preventability, suggesting the need for targeted educational interventions to enhance genetic screening

uptake.

Keywords: Spinal Muscular Atrophy, Genetic Screening, Diagnostic Screening Programs, Secondary

Prevention