Jenny Downs1,2, Ian Torode3, Kingsley Wong1, Carolyn Ellaway4,5,6, Elizabeth J Elliott5,6, Maree T Izatt7, Geoffrey N Askin7, Bruce I Mcphee8, Peter Cundy9,10, Helen Leonard1. 1. Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia. 2. School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia. 3. Department of Orthopaedics, Royal Children's Hospital, Melbourne, Vic., Australia. 4. Discipline of Genetic Medicine, The University of Sydney, Sydney, NSW, Australia. 5. Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia. 6. The Sydney Children's Hospitals Network (Westmead), Sydney, NSW, Australia. 7. Paediatric Spine Research Group, Lady Cilento Children's Hospital, Queensland University of Technology, Brisbane, Qld, Australia. 8. Department of Surgery, University of Queensland, Brisbane, Qld, Australia. 9. Discipline of Orthopaedics and Trauma, University of Adelaide, Adelaide, SA, Australia. 10. Department of Orthopaedic Surgery, Women's and Children's Hospital, Adelaide, SA, Australia.
Abstract
AIM: Scoliosis 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. METHOD: Data 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. RESULTS: After 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). INTERPRETATION: With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.
AIM: Scoliosis 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. METHOD: Data 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. RESULTS: After 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). INTERPRETATION: With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.
Authors: Alberto Romano; Elena Ippolito; Camilla Risoli; Edoardo Malerba; Martina Favetta; Andrea Sancesario; Meir Lotan; Daniel Sender Moran Journal: J Clin Med Date: 2022-01-22 Impact factor: 4.241
Authors: Cary Fu; Dallas Armstrong; Eric Marsh; David Lieberman; Kathleen Motil; Rochelle Witt; Shannon Standridge; Paige Nues; Jane Lane; Tristen Dinkel; Monica Coenraads; Jana von Hehn; Mary Jones; Katie Hale; Bernhard Suter; Daniel Glaze; Jeffrey Neul; Alan Percy; Timothy Benke Journal: BMJ Paediatr Open Date: 2020-09-13