Journal article

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study

Ellen Pieper, Adrienne Sexton, Monique M Ryan, Robin Forbes

Journal of Paediatrics and Child Health | WILEY | Published : 2020

Abstract

AIM: In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic carriers of the condition. This study is the first to explore how siblings of patients with SMA learn about the condition and their genetic risk. METHOD: In-depth, semi-structured interviews were conducted with several parents and unaffected siblings of people with SMA types II and III in Australia. Thematic analysis was performed. RESULTS: Siblings described learning about SMA gradually over time through conversations with their parents and other sources, including the Internet, biology classes and support groups. Parents and unaffected siblings described challenge..

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