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

Abstract

Background and 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. Methods: This cross-sectional study was conducted in three family health centers in the central district of XXX 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 aged 18-65, excluding those with a diagnosis of mental retardation. 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, 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.