Support for Individuals Who Are Carriers of Spinal Muscular Atrophy: Genetic, Psychological and Social Approaches

Yanmaz G.

Essentials of Frontline Medicine Journal, cilt.1, sa.1, ss.31-34, 2024 (Hakemli Dergi)

Özet

Objective: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with an estimated incidence of 1 in 10,000 live births and a carrier frequency ranging from 1/40 to 1/60. Carrier detection relies on genetic screening, highlighting the need for comprehensive support systems. This article evaluates support models for SMA carriers from a multidisciplinary perspective, emphasizing the critical roles of genetic counseling, psychological well-being, and social awareness initiatives.

Methods: A review of multidisciplinary approaches was conducted to assess the effectiveness of genetic counseling, psychological support frameworks, and social service models tailored to SMA carriers.

Results: The findings underline the importance of integrating genetic counseling into carrier detection processes. Furthermore, psychological support and social awareness programs are pivotal in addressing the broader impacts on carriers and their communities.

Conclusion: A multidisciplinary approach is essential to provide holistic support for SMA carriers. Genetic counseling, combined with psychological and social support, enhances the overall well-being and preparedness of affected individuals and families.