Clinical and genetic correlations of scoliosis in Rett syndrome

摘要

Abstract Aim To identify the clinical features correlating with the presence and severity of scoliosis in girls with Rett syndrome (RTT).Method Seventy-five girls with a clinical and genetically determined diagnosis of RTT participated in this cross-sectional study. Clinical scales administered included the Rett assessment rating scale, the modified Ashworth scale, the Rett syndrome motor evaluation scale, the PainAD, and the scale of evaluation of purposeful hand function. Multivariable analyses, such as ordinal logistic regression and ANCOVA, were used to assess the correlation between these scales and a clinical score of scoliosis.Results About 60% of patients had scoliosis, in general mild or moderate. The severity of scoliosis correlated with age and important neurological factors such as muscular hypertonus and hyperreflexia, standing, walking (level walking and on stairs), and postural transitions. No association was found with global disease severity, hand function, pain, or type of genetic mutation.Interpretation Scoliosis is a relevant problem in RTT. It should be carefully monitored along the life span, especially in conjunction with (loco-)motor impairment in these patients.