Article title
Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, Jacoby P, Thompson MR, Izatt MT, Askin GN, McPhee BI, Bridge C, Cundy P, Leonard H. The Natural History of Scoliosis in Females with Rett Syndrome. Spine. 2016; 41(10):856-63. Download snapshot, see article abstract.
Background
Scoliosis is the most common orthopaedic condition in Rett syndrome yet very little is known about its natural history and influencing factors. We described the occurrence of scoliosis in Rett syndrome, how it develops and how progression is influenced by the individual's age, mutation type, and walking ability.
What we did
The Australian Rett Syndrome Database was used to collect information on a population of 394 females with Rett syndrome. Nearly two-thirds (66.2%) were diagnosed with scoliosis. Four types of walking ability were described: (1) always walked independently, (2) always walked with assistance, (3) always unable to walk, and (4) skills declined from independent or assisted walking to unable to walk.
What we found
The average age of scoliosis onset was 11 years with the earliest onset in those with a p.Arg255* mutation or large deletion. Scoliosis was progressive for individuals with all mutation types except for those with the p.Arg306Cys mutation. The progression of the scoliosis was reduced when the individuals were able to walk independently or with assistance. At 10 years of age, girls with no scoliosis or a mild scoliosis <25° and who could walk independently were unlikely to develop a severe scoliosis by age 16.
What does it mean
Information on the risks of developing severe scoliosis help clinicians to determine how often to monitor scoliosis and the potential need for spinal surgery in the future.