OBJECTIVES: The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy, and early motor skills on subsequent fracture incidence in girls and young women with Rett syndrome. METHODS: The Australian Rett syndrome study, a population-based study operating since 1993, investigated Australian subjects with Rett syndrome born since 1976. The 234 (81.2%) of 288 verified cases in the Australian Rett syndrome database in 2004 whose families had completed follow-up questionnaires and provided information about fracture history were included in the analyses. The main outcomes were fracture incidence in the Rett syndrome population and fracture risk according to genotype, presence of epilepsy, and early motor profile. RESULTS: Fracture incidence in this cohort was 43.3 episodes per 1000 person-years, nearly 4 times greater than the population rate. Risk was increased specifically in cases with p.R270X mutations and in cases with p.R168X mutations. Having epilepsy also increased fracture risk, even after adjustment for genotype. CONCLUSIONS: Girls and young women with Rett syndrome are at increased risk of fracture. Those with mutations found previously to be more severe and those with epilepsy have an increased propensity toward fractures. Improved understanding of the risk factors for fracture could contribute to better targeting of interventions to decrease fracture incidence in this vulnerable population.
OBJECTIVES: The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy, and early motor skills on subsequent fracture incidence in girls and young women with Rett syndrome. METHODS: The Australian Rett syndrome study, a population-based study operating since 1993, investigated Australian subjects with Rett syndrome born since 1976. The 234 (81.2%) of 288 verified cases in the Australian Rett syndrome database in 2004 whose families had completed follow-up questionnaires and provided information about fracture history were included in the analyses. The main outcomes were fracture incidence in the Rett syndrome population and fracture risk according to genotype, presence of epilepsy, and early motor profile. RESULTS:Fracture incidence in this cohort was 43.3 episodes per 1000 person-years, nearly 4 times greater than the population rate. Risk was increased specifically in cases with p.R270X mutations and in cases with p.R168X mutations. Having epilepsy also increased fracture risk, even after adjustment for genotype. CONCLUSIONS:Girls and young women with Rett syndrome are at increased risk of fracture. Those with mutations found previously to be more severe and those with epilepsy have an increased propensity toward fractures. Improved understanding of the risk factors for fracture could contribute to better targeting of interventions to decrease fracture incidence in this vulnerable population.
Authors: David R Weber; Alison Boyce; Catherine Gordon; Wolfgang Högler; Heidi H Kecskemethy; Madhusmita Misra; Diana Swolin-Eide; Peter Tebben; Leanne M Ward; Halley Wasserman; Christopher Shuhart; Babette S Zemel Journal: J Clin Densitom Date: 2019-07-10 Impact factor: 2.617
Authors: Jenny Downs; Sandrine M Géranton; Ami Bebbington; Peter Jacoby; Nadia Bahi-Buisson; David Ravine; Helen Leonard Journal: Am J Med Genet A Date: 2010-05 Impact factor: 2.802
Authors: Amanda L Jefferson; Helen J Woodhead; Sue Fyfe; Julie Briody; Ami Bebbington; Boyd J Strauss; Peter Jacoby; Helen Leonard Journal: Pediatr Res Date: 2011-04 Impact factor: 3.756
Authors: Kathleen J Motil; Erwin Caeg; Judy O Barrish; Suzanne Geerts; Jane B Lane; Alan K Percy; Fran Annese; Lauren McNair; Steven A Skinner; Hye-Seung Lee; Jeffrey L Neul; Daniel G Glaze Journal: J Pediatr Gastroenterol Nutr Date: 2012-09 Impact factor: 2.839