ASSESSMENT OF PUBLIC AWARENESS IN ABAI REGION REGARDING SPINAL MUSCULAR ATROPHY IN CHILDREN AND THE IMPORTANCE OF GENETIC COUNSELING IN FAMILY PLANNING
Introduction. Public awareness of spinal muscular atrophy (SMA) in children and the importance of genetic counseling during family planning represent key factors in the prevention and early diagnosis of this disease.
Objective. To assess the level of public awareness regarding spinal muscular atrophy in children and the significance of genetic counseling in family planning.
Materials and Methods. A cross-sectional study was conducted among 315 respondents. Statistical analysis was performed using SPSS software (version 26.0). Histograms and the Kolmogorov–Smirnov test were applied to assess the normality of distribution for all variables. Given the non-normal distribution, non-parametric statistical methods were used. Quantitative continuous variables are presented as medians and percentiles, while dichotomous variables are presented as proportions (absolute numbers). Results with p ≤ 0.05 were considered statistically significant.
Results. According to the findings, only 47.6% of respondents had ever heard of spinal muscular atrophy (SMA). Among respondents, 64.1% indicated that in the future they plan to have children with their spouse or partner. A total of 58% expressed willingness to undergo genetic counseling, including genetic testing for SMA-related gene mutations.
However, only 35.6% of respondents were aware of the main clinical symptoms of SMA in children (such as muscle weakness, lethargy, weak sucking reflex, motor developmental delay, and breathing difficulties), which would enable timely suspicion of the disease and earlier referral to medical specialists.
Conclusion. Thus, the level of public awareness regarding spinal muscular atrophy remains low and requires educational efforts and broader dissemination of information about this disease.
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Kurmasheva A.T., Khismetova Z.A., Mukysheva A.M., Siyazbekova Z.S., Akhmetova K.M. Assessment of Public Awareness in Abai Region Regarding Spinal Muscular Atrophy in Children and the Importance of Genetic Counseling in Family Planning // Nauka i Zdravookhranenie [Science & Healthcare]. 2025. Vol.27 (5), pp. 120-126. doi 10.34689/SH.2025.27.5.015Related publications:
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