Awareness and Attitudes Toward Spinal Muscular Atrophy Carrier and Newborn Screening Programs in Türkiye: A Cross-Sectional Study in Family Health Centers

Introduction: Spinal Muscular Atrophy (SMA) is an autosomal recessive genetic disorder characterized by progressive loss of motor neurons. Both premarital carrier screening and newborn screening programs were recently implemented in Türkiye. This study aims to assess public knowledge, awareness, and attitudes toward SMA and screening programs, as well as to examine factors influencing these attitudes.
Methods: This cross-sectional study was conducted through a face-to-face survey in the individuals who visited various Family Health Centers in Ankara. The questionnaire included items on sociodemographic information, knowledge, attitudes, and behaviors regarding SMA and its screening. The data obtained were presented through descriptive analyses, and the factors influencing knowledge, attitudes, and behaviors regarding SMA and screening were examined. Univariate and multivariate logistic regression analyses were then conducted, using "hypothetical acceptance to undergo SMA screening" as the dependent variable.
Results: The study included 1643 individuals. The majority of participants reported having never heard of SMA screening. Knowledge and positive attitudes were among the factors that increased the likelihood of accepting SMA screening. Hearing of SMA, demonstrating higher levels of knowledge about it, and knowing that screening is provided free of charge by the government significantly influenced willingness to undergo screening.
Discussion and Conclusion: The effectiveness of SMA screening programs is directly related not only to service delivery but also to public knowledge and attitudes. This study demonstrates that developing strategies to raise public awareness can increase the success of screening programs. Such studies, conducted with a public health approach, contribute to the sustainability of screening programs.

Keywords: Attitudes; Genetic carrier screening; Health knowledge; Mass screening; Practice; Primary health care; Public health; Spinal muscular atrophies of childhood