Guidelines for Parenting a Toddler Diagnosed with Spinal Muscular Atrophy
In the care of a child diagnosed with Spinal Muscular Atrophy (SMA), a multidisciplinary team of specialists works together to address the complex needs of the child and support the family. Led by a neurologist, this team includes physical therapists, occupational therapists, speech-language pathologists, pulmonologists, gastroenterologists, dietitians, orthopaedists, social workers, and more.
The neurologist serves as the leader of the care team, responsible for understanding the disease process, genetic testing, and available treatments. They coordinate the overall care, oversee disease progression, and prescribe medications such as disease-modifying therapies.
Physical therapists help preserve and optimize gross motor function, prevent complications like contractures, and assist with mobility techniques and equipment. Occupational therapists support fine motor skills, help adapt daily activities, and recommend assistive devices to improve independence in self-care and daily tasks. Speech therapists assist with speech and swallowing difficulties, helping maintain communication abilities and safe feeding practices.
Nurses specialized in neuromuscular clinics act as primary care coordinators, managing the care plan, evaluating the child’s ongoing health, monitoring progress, and providing advice and emotional support tailored to the family’s needs. A dietitian/nutritionist tailors dietary plans to support growth and muscle function, managing nutritional needs related to limited mobility and swallowing issues to maximize overall health and minimize muscle wasting.
Orthopedic surgeons address musculoskeletal complications of SMA such as scoliosis, joint instability, and contractures. Genetic counselors provide information on the genetic nature of SMA, carrier screening, family planning, and implications for extended family members, offering support and guidance in understanding inheritance and reproductive options.
In some specialized centres, pediatric neuro-oncology and neurosurgery clinics may also be involved for associated spinal or neurological conditions, although these are less central to routine SMA care.
The composition and specific roles of the team may vary depending on the child’s age, disease severity, and available resources, but the focus is always on comprehensive, coordinated care tailored to both medical and daily living needs.
Safety concerns should be assessed, particularly in regards to positioning and preventing infectious diseases. Caregivers should protect children with SMA against infectious diseases by being up to date on vaccinations, limiting exposure to other people in their earliest months, practicing good hand hygiene, adopting immune system-boosting behaviours, and going to the doctor at the first sign of illness.
In case the child gets sick, it's important to have a plan for respiratory support and to ensure that the pulmonary team is familiar with the child's care. Caregivers can utilize government resources, such as their local board of developmental disabilities, for financial support, healthcare issues, educational interventions, and legal protections.
Raising a child with SMA is a big responsibility, but the caregiver will not shoulder that responsibility alone. The provider team and the rest of the support network are there to help. Caregivers should be proactive in supporting their child's cognitive development through physical, occupational, and speech therapy.
Investing in self-care routines, such as getting respite care, annual physicals, maintaining friendships, and pursuing hobbies, is important for the caregiver's mental health and overall well-being. Caregivers should communicate their preferences and feelings of overwhelm to their provider to ensure a personalized care plan.
Protecting mental health is crucial for caregivers navigating life with a chronically ill child, as SMA caregiving is a marathon, not a sprint, and the caregiver needs to be in a good place mentally to be a steady presence for the child. Joining online support groups endorsed by major medical institutions or nonprofit organizations like Cure SMA or The Muscular Dystrophy Association can provide empathy, understanding, and valuable caregiving advice.
Bouncer seats, swings, and the use of pillows and blankets should be avoided for children with SMA due to potential breathing difficulties. Small children with SMA cannot wear masks until they are at least 2 years old, but family members might want to consider wearing masks during respiratory season.
Pediatric neurologist Alexandra Bonner, MD, provides tips for caregivers of children with SMA. It is important to monitor a child's cognitive development, as SMA can impact learning abilities. The care team and support network are there to make sure the caregiver is not missing anything and to ensure everyone's on track, addressing condition management issues as they arise and setting the child up for success.
- In addition to the primary care team, genetic counselors offer information about the genetic nature of SMA, providing guidance on carrier screening, family planning, and inheritance implications for extended family members.
- To address the child's complex needs, the care team includes specialists such as physical therapists who work on preserving and optimizing gross motor function, and occupational therapists who support fine motor skills and adapt daily activities.
- As mental health is crucial for caregivers, investing in self-care routines like respite care, annual physicals, maintaining friendships, and pursuing hobbies is important for the caregiver's overall well-being and mental health.
- In specialized centers, pediatric neuro-oncology and neurosurgery clinics may be involved for associated spinal or neurological conditions that are less central to routine SMA care.
- Raising a child diagnosed with Spinal Muscular Atrophy requires a focus on comprehensive, coordinated care tailored to both medical and daily living needs, and maintaining open communication with the care team to ensure a personalized care plan is in place.
