Spinal muscular atrophy (SMA) is a hereditary disorder that weakens and wastes away muscles due to damage to the motor neurons in the spinal cord. It results from a change in the SMN1 gene on chromosome 5. SMA can present in different forms, ranging from severe infantile-onset SMA to milder forms that may appear later in childhood or adulthood (Keinath et al., 2021). To offer the best care for persons with SMA, a thorough care plan must be designed to accommodate their needs.
Physical care is an essential element of caring for patients with SMA. Nurses should assist with actual living and mobility to maximize independence and prevent complications associated with muscle weakness. Collaboration with physical and occupational therapists is vital to design individualized exercise and stretching regimens that can assist in preserving muscle strength and flexibility (Serra-Juhe & Tizzano., 2019). These workouts can be tailored to a person’s capabilities and help them become more functional overall. Additionally, educating the client and their family about proper positioning, adaptive devices, and assistive technologies can enhance their ability to perform activities and improve their comfort.
Another crucial aspect of care for those with SMA is respiratory support. People with SMA run the risk of respiratory issues because their respiratory muscles are weak. Regular monitoring of respiratory function is required to spot any changes as soon as they occur. This includes checking vital signs, oxygen saturation, and respiratory effort. When necessary, non-invasive ventilation, breathing exercises, and appropriate airway clearance techniques can be implemented with the help of respiratory therapists (Serra-Juhe & Tizzano., 2019). Education of the client and their family on signs of respiratory distress and when to seek medical care is vital to ensure timely intervention and prevent respiratory problems.
Care for those with SMA also includes providing them and their loved ones emotional and social support. The diagnosis of SMA can have profound psychological effects on the affected person and their family. Nurses should provide emotional support, acknowledging the challenges and difficulties they may face and facilitating open communication. Connecting individuals and families with support groups or online communities can provide a sense of belonging and allow sharing of experiences and coping strategies (Keinath et al., 2021). Collaboration with social workers or psychologists can address psychological distress and provide additional support and counselling.
Nutritional support is essential for individuals with SMA, as they may experience swallowing difficulties and have specific energy requirements. Nurses should assess the client’s nutritional status and provide appropriate dietary recommendations. Collaboration with dietitians can help develop a well-balanced diet, addressing potential weight loss or nutritional deficiencies (Serra-Juhe & Tizzano., 2019). It is essential to consider modified textures, feeding techniques, and the need for supplementation to ensure that the individual receives adequate nutrition. For the client’s overall well-being and to maintain optimal health, it is crucial to educate the client’s family about methods for ensuring proper nutrition.
Considering potential ethical conundrums when caring for people with SMA is crucial. Access to genetic testing should be egalitarian so that all individuals can make informed decisions about their health. Addressing societal biases and prejudices associated with genetic conditions can promote inclusivity and reduce stigmatization (Jablonka et al., 2020). Providing comprehensive reproductive counselling supports family planning decisions, including options such as prenatal testing, preimplantation genetic diagnosis, and adoption. Nurses should respect the client’s autonomy and provide accurate information to facilitate informed decision-making.
An interprofessional approach is necessary for the optimal care of individuals with SMA. Genetic counsellors provide specialized expertise in genetic counselling, discussing the genetic condition, inheritance patterns, recurrence risks, and available testing options. Physical and occupational therapists offer expertise in maximizing mobility, strength, and functional independence through tailored exercise programs and assistive devices (Keinath et al., 2021). Respiratory therapists are crucial in managing respiratory function and implementing airway clearance techniques and non-invasive ventilation strategies. Social workers provide psychosocial support, connect families with community resources, and assist in navigating financial and insurance-related challenges (Jablonka et al., 2020). Nutritionists/dietitians develop personalized dietary plans to ensure adequate nutrition and address specific needs related to SMA. Collaboration among these healthcare professionals ensures comprehensive care that addresses the diverse needs of individuals with SMA.
Educational resources play a significant role in planning care for individuals with SMA. Disease-specific websites and online platforms provide comprehensive information about SMA, treatment options, ongoing research, and support networks. Educational materials from genetic advocacy organizations offer resources on genetic conditions, genetic testing, and available support services (Keinath et al., 2021). Staying updated with scientific literature and research articles helps nurses stay informed about the latest SMA management and therapies advancements. Attending webinars and conferences allows for learning from experts, sharing experiences, and networking with other healthcare professionals involved in SMA care. Ongoing education and professional advancement enable nurses to deliver care based on empirical evidence and assist clients, and their families in making knowledgeable choices regarding their health and welfare.
In conclusion, developing a comprehensive care plan for individuals with Spinal Muscular Atrophy (SMA) involves addressing physical care, respiratory support, psychosocial support, and nutritional needs. Ethical considerations related to genetic testing, genetic prejudice, and reproductive choices should be considered. The quality of treatment given to people with SMA is improved using interprofessional resources, such as genetic counsellors, physical and occupational therapists, respiratory therapists, social workers, and nutritionists/dietitians. Nurses can also deliver evidence-based care and assist patients, and their families in making knowledgeable decisions about their health and well-being by including educational resources. Nurses can enhance the general well-being and quality of life of people with SMA by using a holistic and cooperative approach.
References
Jablonka, S., Hennlein, L., & Sendtner, M. (2022). Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders. Neurological research and practice, 4(1), 1-32. https://doi.org/10.1186/s42466-021-00162-9
Keinath, M. C., Prior, D. E., & Prior, T. W. (2021). Spinal muscular atrophy: mutations, testing, and clinical relevance. The Application of Clinical Genetics, 11-25. DOI: 10.2147/TACG.S239603
Serra-Juhe, C., & Tizzano, E. F. (2019). Perspectives in genetic counselling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors. European Journal of Human Genetics, 27(12), 1774-1782. https://doi.org/10.1038/s41431-019-0415-4
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