The Transition between the Phenotypes of Prader-Willi Syndrome during Infancy and Early Childhood.

摘要: Aim  Prader–Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS intellectual disability, hyperphagia, as well growth sex hormone deficiency. Little known about the transition between phenotypes. This study investigates nature of change infancy childhood PWS. Method  Forty-six children (22 females, 24 males; mean age 2y 9mo, SD 18.9mo; range 7mo–5y) genetically confirmed participated. Information was obtained on height weight, eating behaviour from case notes parental interview. Results  Weight standard deviation scores (SDS) started exceed end first year. Height SDS appeared fall near normal at birth until stabilizing below around 2 years. Half whose body mass index (BMI) higher than interview had food interests greater that their peers, which increased age-appropriate noted increase BMI SDS. Interpretation  Obesity may develop before interest food, suggesting underlying physiological factors independent appetite control be important.