Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

Transition in paediatric health care refers to the planned process of shifting to an adult model of care and is highly individualised, patient focussed and requires a coordinated effort from different health care professionals. Through this retrospective study, we describe the spectrum of neuromuscular diseases evaluated through a paediatric to adult neuromuscular transition program in a tertiary academic centre in Canada, and also the speciality supports needed for these patients. 126 patients were transitioned during the study period. The most common clinical diagnosis was muscle disease (44.4%), followed by neuropathy (27.8%), neuromuscular junction disorders (15.9%) and motor neuron disease (MND) (10.3%). The majority of cases were inherited neuromuscular disorders (66.6%); 58.3% had a genetically confirmed diagnosis. Cardiac and respiratory abnormalities were encountered in 8.7% and 27.7% and transitioning was required for 39.8% and 35.7% respectively. Scoliosis was seen in 30.2% of patients; 9.5% underwent spine surgery. Patients with MND had maximum requirements for self-care (46.2% of MND) and a mobility device for ambulation was required in 69.2% of MND. We observed a wide range of systemic issues requiring the services of endocrinology, gastroenterology, speech and language pathology and psychiatry. A multidisciplinary clinical care model may provide optimal care for patients transitioning from paediatric to adult care health systems.