In a transformational era for spinal muscular atrophy (SMA), research conducted by Sydney Children’s Hospitals Network (SCHN) and UNSW Sydney has shown newborn bloodspot screening (NBS) leads to better health outcomes for children diagnosed with the devastating genetic condition.

The study, published in The Lancet Child & Adolescent Health, found children with SMA are more likely to walk, be more functionally independent and free of respiratory and feeding support when screened, diagnosed and treated shortly after birth.

Dr Didu (Sandi) Kariyawasam and Professor Michelle Farrar, paediatric neurologists at the Network, led the study. It is one of the first... read more.