Setting up of a standard of care for children with spinal muscular atrophy at a tertiary care center in North Kerala: South India

Objectives: Spinal Muscular atrophy (SMA) is a neuromuscular condition affecting children of various age groups with varied severity. We describe our experience in providing well co-ordinated multidisciplinary care including treatment through various compassionate use programmes (CUP) for children with SMA in North kerala. Methods: A retrospective analysis of demographic details, systemic complications , treatment and regular 3 monthly follow up of children attending the SMA multidisciplinary clinic at Aster MIMS, Kozhikode (Private sector) in North kerala from January 2020 till February 2022. Results: 79 children aged 1month-18 years were enrolled. Average age of diagnosis was 26 months. 9/79 had family history of SMA. Boys: Girls (36:43). 18/79 were type 1, 41/79 were type 2, 20 were type 3 SMA. 22 /79 children (10 type 2 and 12 type 3) are receiving Nusinersen ,8 (5 type 1, 2 type 2, 1 type 3 SMA) are receiving Risdiplam ,5 ( Type 2) received gene therapy. 35/79 treated had a mean increase of +3 Hammersmith functional motor scale (HFMSE) compared to 44/79(treatment naïve) who had a mean increase of +1 over 6months. 33/79 have scoliosis and 4/33 operated.44/79 have orthopedic complications and 2/79 underwent hamstring release procedure.22/79 underwent sleep study and 4/22 were initiated on Bipap.1/79 is nasogastric tube fed.13/18 children of type 1 SMA died and 9/79 children lost to follow up. Conclusion: The challenges encountered are creating awareness among public, prompt referral to the clinic, bringing the doctors of various specialities together, funding for treatment access and ensuring periodic follow ups.
Keywords: Standard of care , Spinal Muscular atrophy