Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder requiring interdisciplinary team monitoring and intensive care by parents. So far there is little information on people with PWS in Brazil. Our aim was to describe health problems and treatments used by people with PWS in Brazil and their relationship to their parents' quality of life. Parents answered questionnaires about their child's medical and exercise history, behavior problems, sociodemographic characteristics, and their own quality of life. Results: The responses of the participants showed similar health problems as in other countries. Anxiety and tantrums were the behavioral problems most commonly cited by parents. Parents of people with PWS had lower scores in respect of quality of life than the Brazilian population. Behavioral problems in individuals with PWS were negatively associated with their parents' quality of life. Behavioral and medical conditions in the children were associated with reduced quality of life in the parents. We conclude that heath care should not only be directed toward those with PWS, but also their parents.
Highlights
First described by Prader, Labhart, and Willi in 1956, Prader-Willi syndrome (PWS) is the result of the absence of gene expression of the q11.2-q13 region from chromosome 15 of paternal origin
The results revealed that parents of people with PWS present significantly lower quality of life in the psychology, social relation and environment domains compared to Brazilian reference values
We report a descriptive analysis of medical, behavioral and emotional problems in Brazilian individuals with PWS and the associations with their parents’ quality of life
Summary
First described by Prader, Labhart, and Willi in 1956, Prader-Willi syndrome (PWS) is the result of the absence of gene expression of the q11.2-q13 region from chromosome 15 of paternal origin. PWS affects 1:20,000 births and has a prevalence of 1:54,000 [1], and is usually caused by one of three genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region (DEL), maternal uniparental disomy (UPD), or an imprinting defect (ID) [2, 3]. PWS presents a complex clinical and psychiatric phenotype with variations between its genetic subtypes that produce a range of symptoms that include severe neonatal hypotonia, growth hormone deficiency [4], poor motor skills [5], and mild to moderate cognitive deficits [6]. Hyperphagia leads the person with PWS to seek food constantly because the individuals rarely feel full [2, 9]
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