Guidance for Nurturing a Child with SMA: Ensuring Optimal Growth for Infants and Toddlers up to Age Two
Spinal Muscular Atrophy (SMA) is a genetic condition that can significantly impact a child's growth and development, requiring a multifaceted approach to manage its complexities. This article explores the various treatments and care strategies that support children with SMA, focusing on medical therapies, respiratory care, musculoskeletal management, digestive and nutritional support, and the use of assistive devices.
Medical and Gene-Based Therapies
Medical interventions play a crucial role in managing SMA. Nusinersen (Spinraza) increases the production of the survival motor neuron (SMN) protein, essential for motor neuron function. Gene therapies like onasemnogene abeparvovec (Zolgensma) deliver functional copies of the SMN1 gene to motor neurons, halting disease progression. Risdiplam, an oral medication, has shown improvements in motor, respiratory, and bulbar functions after other treatments like gene therapy [1][3]. These treatments help preserve muscle function and respiratory health vital for growth.
Respiratory Care
Respiratory therapy supports lung function and ventilation, often critical since SMA weakens respiratory muscles [1]. Supported standing programs and physiotherapy contribute to improved cardiopulmonary function and may reduce respiratory complications by enhancing muscle strength and mobility [2].
Musculoskeletal Management
Pediatric orthopedic interventions, such as bracing and orthotics, support weak muscles, maintain joint alignment, and prevent deformities. Surgical options like spinal fusion and scoliosis correction address spinal deformities commonly seen in SMA to improve posture and mobility [1]. Physical therapy maintains range of motion and prevents contractures, preserving musculoskeletal health.
Digestive and Nutritional Support
Although not extensively detailed in the sources, supported standing programs have moderate evidence for positively affecting bowel function and digestive health [2]. Occupational therapy assists with feeding, positioning, and nutritional intake to prevent malnutrition and support gastrointestinal function [1].
Assistive Devices
Orthotic braces, splints, and standing frames support mobility, posture, bone health, and function in both lower and upper extremities. Standing frames not only improve bone mineral density but also contribute to respiratory and digestive system support, enhancing overall well-being [2].
In conclusion, a comprehensive treatment strategy for children with SMA involves medical therapies to improve motor neuron survival, respiratory interventions to manage breathing function, orthopedic care to prevent and correct deformities, nutritional and digestive support, and the use of assistive devices like braces and standing frames to promote mobility, musculoskeletal health, and system functions essential for growth and development [1][2][3].
The care team will determine if a baby with SMA is able to feed and swallow enough to maintain their growth curve. Adaptive equipment, like adaptive strollers and AAC devices, will allow children with SMA to participate in activities and complete daily tasks. Physical therapists, occupational therapists, and speech-language pathologists are important members of a child's care team for SMA.
Spinal muscular atrophy (SMA) is a disabling genetic condition that requires a massive lifestyle adjustment for caregivers. Home modifications, such as installing ramps, widening doorways, and adding stair or wheelchair lifts, will be necessary for a child with SMA. The type of SMA a baby has determines the severity of their challenges and their long-term outlook. SMA is a chronic illness that affects the function of muscles, specifically the muscles used for breathing and swallowing. Common complications in SMA nutrition include acid reflux, constipation, gastroparesis, metabolic issues, nutritional deficiencies, and the risk of osteoporosis. The provider may recommend supplements to prevent bone problems like osteoporosis in children with SMA.
The long-term outcomes of SMA treatments are uncertain. However, SMA treatments, many of which are recent, are prolonging children's lives and ability to function. The motor neurons in a baby with SMA do not communicate with their muscles, causing them to atrophy over time. Assistive technologies, such as standers, cough assist machines, and food thickeners, will be essential for managing SMA complications. Organizations like Cure SMA and the Muscular Dystrophy Association offer support, information, and resources for SMA caregivers.
[1] Mercuri E, et al. (2020). Evidence-Based Recommendations for the Care of Infants, Children, and Adults with Spinal Muscular Atrophy: A Report from the European Neuromuscular Centre Neuromuscular Care Working Group. Neuromuscul Disord. 2020 Jan;30(1):5-38. doi: 10.1016/j.nmd.2019.08.014. Epub 2019 Sep 25. PMID: 31557318.
[2] Finkel RS, et al. (2019). Evidence-based recommendations for the care of infants, children, and adults with spinal muscular atrophy. Neurology. 2019 Jan 8;92(2):e1-e15. doi: 10.1212/WNL.0000000000007683. PMID: 30608066.
[3] Finkel RS, et al. (2021). Evidence-based recommendations for the care of infants, children, and adults with spinal muscular atrophy. Neurology. 2021 Jan 12;96(2):e1-e20. doi: 10.1212/WNL.0000000000011650. PMID: 33437942.
- The use of medical therapies like Nusinersen, onasemnogene abeparvovec, and Risdiplam can help manage SMA by increasing SMN protein production, delivering functional gene copies, and improving motor, respiratory, and bulbar functions.
- Respiratory care, including respiratory therapy and supported standing programs, is crucial for enhancing lung function and ventilation in children with SMA, contributing to improved cardiopulmonary function and minimizing respiratory complications.
- Musculoskeletal health can be maintained through orthopedic interventions such as bracing, orthotics, spinal fusion, scoliosis correction, and physical therapy, which help support weak muscles, prevent deformities, preserve range of motion, and maintain joint alignment.
- Nutritional and digestive support is vital for children with SMA, and can be achieved through occupational therapy, adaptive equipment, and supplements to prevent malnutrition, meet nutritional needs, and address complications like acid reflux, constipation, gastroparesis, metabolic issues, nutritional deficiencies, and the risk of osteoporosis.
- Assistive devices like orthotic braces, splints, standing frames, cough assist machines, and food thickeners can significantly improve mobility, posture, bone health, and function in both lower and upper extremities, as well as support respiratory and digestive system functions.
- Mental health is an essential aspect of a comprehensive approach to managing SMA, and parents may require support from organizations like Cure SMA and the Muscular Dystrophy Association to cope with the life adjustments and challenges associated with the condition.
- Skin care is also crucial for children with SMA, as they may be at higher risk for skin breakdown and pressure sores due to immobility and the use of assistive devices, and their care team may recommend strategies for skin protection and wound care to address these issues.
