The characteristics of the patients with Rett syndrome: Case series

Abstract

Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m 2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011), weight-for-age (r=-0.433 p=0.019) and BMI-for-age (r=-0.433 p=0.019). The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age.The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.