C Marr1, H Leonard2, I Torode3, J Downs1,2. 1. School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia. 2. Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. 3. Department of Orthopaedics, Royal Children's Hospital, Melbourne, Vic., Australia.
Abstract
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if the scoliosis is progressive. This qualitative study investigated recovery of girls with Rett syndrome during the first 12 post-operative months and explored family perspectives and coping around the time of surgery. METHOD: Parents registered with the population-based Australian Rett Syndrome Database were recruited to this study if their daughter had a confirmed pathogenic MECP2 mutation and spinal fusion between 2006 and 2012. Twenty-five interviews were conducted to determine their daughter's recovery and parental stresses and coping. Themes in the interview data were identified with content analysis, and the regaining of gross motor skills over the first 12 post-operative months was described with time-to-event (survival) analysis. RESULTS: Pain and energy levels, appetite, mood and coinciding health issues influenced their daughter's post-operative recovery. The majority of girls recovered preoperative sitting (88%), standing (81%) and walking (80%) by 12 months. The decision to proceed with surgery was associated with feelings of fear, obligation, relief and guilt for families. Development of complications, poor support and feelings of isolation increased their emotional burden whereas adequate information and discharge preparation, confidence in self and staff, and balancing personal needs with their daughter's care relieved this burden. INTERPRETATION: Our study identified clinical practice issues in relation to families whose daughter with Rett syndrome undergoes spinal fusion, issues that are also relevant to other severe disabilities. Return of wellness and gross motor skills following spinal fusion in girls with Rett syndrome occurred within the first 12 post-operative months in most cases. Parents require information and practical support to alleviate their emotional burden.
BACKGROUND:Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if the scoliosis is progressive. This qualitative study investigated recovery of girls with Rett syndrome during the first 12 post-operative months and explored family perspectives and coping around the time of surgery. METHOD: Parents registered with the population-based Australian Rett Syndrome Database were recruited to this study if their daughter had a confirmed pathogenic MECP2 mutation and spinal fusion between 2006 and 2012. Twenty-five interviews were conducted to determine their daughter's recovery and parental stresses and coping. Themes in the interview data were identified with content analysis, and the regaining of gross motor skills over the first 12 post-operative months was described with time-to-event (survival) analysis. RESULTS:Pain and energy levels, appetite, mood and coinciding health issues influenced their daughter's post-operative recovery. The majority of girls recovered preoperative sitting (88%), standing (81%) and walking (80%) by 12 months. The decision to proceed with surgery was associated with feelings of fear, obligation, relief and guilt for families. Development of complications, poor support and feelings of isolation increased their emotional burden whereas adequate information and discharge preparation, confidence in self and staff, and balancing personal needs with their daughter's care relieved this burden. INTERPRETATION: Our study identified clinical practice issues in relation to families whose daughter with Rett syndrome undergoes spinal fusion, issues that are also relevant to other severe disabilities. Return of wellness and gross motor skills following spinal fusion in girls with Rett syndrome occurred within the first 12 post-operative months in most cases. Parents require information and practical support to alleviate their emotional burden.
Authors: Sarah Ager; Susan Fyfe; John Christodoulou; Peter Jacoby; Lincoln Schmitt; Helen Leonard Journal: J Child Neurol Date: 2006-09 Impact factor: 1.987
Authors: Stephen Playfor; Ian Jenkins; Carolyne Boyles; Imti Choonara; Gerald Davies; Tim Haywood; Gillian Hinson; Anton Mayer; Neil Morton; Tanya Ralph; Andrew Wolf Journal: Intensive Care Med Date: 2006-05-13 Impact factor: 17.440
Authors: Jennepher Downs; Ami Bebbington; Helen Woodhead; Peter Jacoby; Le Jian; Amanda Jefferson; Helen Leonard Journal: Pediatrics Date: 2008-03 Impact factor: 7.124
Authors: Domingo Palacios-Ceña; Pilar Famoso-Pérez; Jaime Salom-Moreno; Pilar Carrasco-Garrido; Jorge Pérez-Corrales; Paula Paras-Bravo; Javier Güeita-Rodriguez Journal: Int J Environ Res Public Health Date: 2018-12-25 Impact factor: 3.390
Authors: Brigid M Garrity; Sara J Singer; Erin Ward; Lucia Bastianelli; Jay G Berry; Charis Crofton; Laurie Glader; Elizabeth L Casto; Joanne E Cox Journal: J Patient Exp Date: 2020-12-02