National Recommendations for Spinal Muscular Atrophy Newborn Screening in Australia and Aotearoa New Zealand

Kariyawasam, Didu; Farrar, Michelle; Meagher, Christian; Heather, Natasha; Bhattacharya, Kaustav; Sampaio, Hugo; Cini, Julie; Lau, Chiyan; Mas, Emilie; Burrows, Linda; Greenslade, Mark; Heller, Raoul; Allcock, Richard; Divanisova, Sandra; Carrivick, Simon; Kay, Alexandra; Siu, Carol; Webster, Dianne; Ranieri, Enzo; Moore, Francesca; Crisp, Gabrielle; Pitt, James; Greed, Lawrence; de Hora, Mark

National Recommendations for Spinal Muscular Atrophy Newborn Screening in Australia and Aotearoa New Zealand

Bhattacharya, Kaustav

Reference

(2024, October). [Poster]. The International Congress on Neuromuscular Diseases, Perth.

Abstract

This Guideline has been developed to provide a child and family focused approach to newborn screening (NBS) for spinal muscular atrophy (SMA). It is intended to span the entire healthcare journey, from screening through to diagnosis and immediate post-diagnosis assessment and care for the newborn and their family.