A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.

摘要: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 Australia. Childhood SMA classified into three types based on the age at which children present symptoms and clinical severity. Families’ experiences leading up to diagnosis have not been described, but are important when considering potential for diagnostic odyssey. Using mixed methods approach, data were collected from interviews national survey families explore their this journey. The combined findings (n=28) revealed that journey receiving was protracted. time first noticing finally emotional frustrating. Once parents or other family members became aware symptoms, almost all had consulted multiple different health professionals before ultimately made. Not surprisingly, devastating families. nature information way it given them always optimal, particularly because difficulties predicting Most felt child could diagnosed earlier and, although there views around benefit child, they may reduced impact Overall, more favour population screening compared newborn population. Despite increasing awareness SMA, delay continues negative impacts