Pediatric Neuromuscular Clinic
Services, Education, and Care
The clinic provides diagnostic assessment, care management and therapy recommendations, including orthotics design, equipment recommendations, and genetic and nutritional counseling for patients with SMA and other neuromuscular disorders.
Many neurological disorders are genetic in nature. Identifying a genetic mutation helps to confirm a diagnosis and identify possible treatment options for many patients. Genetic Counseling is the process by which patients or relatives, at risk of an inherited genetic disorder, are educated about the nature and consequences of the disorder, the risk of developing or transmitting it, and the options open to them for family planning. At the Pediatric Neuromuscular /SMA Clinic at Columbia, our Genetic Counselors work with patients and their families to help them most effectively cope with to the various medical, psychological and social implications of dealing with a new diagnosis. Genetic Counselors provide education about inheritance, testing, management, prevention and resources.
Multidisciplinary Follow-up Care
Initial comprehensive evaluations take place on Tuesdays and depending upon the patient's needs and specific diagnosis, a given patient may see and be followed-up by a range of specialists, including:
- Neurologists/Experts in neuromuscular disorders
- Pediatric Nurse Practitioner
- Genetic Counselors
- Physical therapists
Referral Service for powered or manual wheelchair
The Seating and Mobility Clinic at the Pediatric Neuromuscular/SMA Clinical Research Center provides evaluation and prescription for durable medical equipment including seating and positioning systems, bath equipment, standers, adapted strollers, as well as custom manual and power wheelchairs. Evaluations are performed by experienced physical therapists to identify the needs of the individual and allows for equipment demonstrations and patient trials. A supplier is also included in the evaluation to help determine the best available equipment. The clinic team works with vendors and insurance companies to advocate for the patient and ensure that they receive the necessary equipment.
Evaluation for braces
Orthotic evaluation is included as part of the physical therapy evaluation at the Pediatric Neuromuscular/SMA Clinical Research Center. If braces are needed to meet either functional (walking) or positioning needs, the physical therapy team will work with on-site or off-site Orthotists to provide the appropriate equipment. On-site and in-clinic measurements and moldings can be arranged during a regular clinical visit.
Family Centered Care
Our clinic developed a Patient and Family Spinal Muscular Atrophy Working Group to optimize the care of patients seen both at the clinic and the hospital. This working group has focused on promoting family-centered care and aims to enhance the overall family experience at the clinic. The group has collected resources for newly diagnosed families as well as, patients living with chronic illnesses. A primary aim of the group was to work with the pediatric intensive care unit (PICU) to improve continuity of care. We have diligently worked with staff at the PICU to improve continuity of care and the overall patient experience. When surveyed, during a focus group, the primary issues raised by families were related to nutritional care, respiratory care, and discharge planning. We have provided educational programs for the staff and have worked to implement standard of care guidelines related to the respiratory management, nutritional management, and discharge planning for all children with neuromuscular disorders.
A neuromuscular disorder diagnosis is often accompanied by a host of medical complications. At the Pediatric Neuromuscular SMA clinic, our multi-disciplinary team works collaboratively to empower our patients and families with the education and counseling they need to fully understand the intricacies of their (or their children) diagnoses. Counseling and educational materials both printed and online, are provided to best help them understand the pathogenesis, management and prognosis of their illness; information on current/relevant clinical trials, research updates, available patient registries and referrals to patient advocacy groups is also available.