Hip displacement and scoliosis in Rett syndrome – screening is required

Abstract

AIM: This study aimed to determine the prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management. METHOD: Age, MECP2 gene status, gross motor function, prevalence of hip displacement, as measured by migration percentage, and spinal deformity, determined by measurement of Cobb angle, were recorded. RESULTS: Thirty-one females with a mean age of 15 years 6 months (SD 5y 4mo) fulfilled a clinical diagnosis of Rett syndrome. Fifteen (48%, 95% confidence interval [CI] 30-67) of the cohort had a hip migration percentage of 30% of more. Eight of the 31 patients (95% CI 12-45) had undergone surgery for the prevention or treatment of hip displacement or dislocation. Twenty-seven of the 31 patients (95% CI 70-96) had a scoliosis, with a Cobb angle of less than 10 degrees; 20 patients (95% CI 45-81) had a Cobb angle greater than 30 degrees. Eleven (95% CI 19-55) patients have required spinal fusion surgery. INTERPRETATION: The prevalence of hip displacement and spinal deformity in a clinic cohort of females with Rett syndrome in Victoria, Australia, was very high. Early, repeated, and consistent clinical and radiological surveillance for hip displacement and spinal deformities is recommended in all young patients with Rett syndrome.