• Jenny Downs, Ian Torode, Kingsley Wong, Carolyn Ellaway, Elizabeth J Elliott, Maree T Izatt, Geoffrey N Askin, Bruce I Mcphee, Peter Cundy, Helen Leonard, and Rett syndrome spinal fusion group.
• Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.
• Dev Med Child Neurol. 2016 Jun 1; 58 (6): 632-8.

AimScoliosis is a common comorbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.MethodData were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle ≥45°) before adulthood.ResultsAfter adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12-0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06-0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16-1.03; p=0.06).InterpretationWith appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.© 2015 Mac Keith Press.

43 keywords...

hide…