Síndrome De Prader Willi: O Que O Pediatra Geral Deve Fazer - Uma Revisão

Abstract

Objective: To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up. Data sources: Scientific articles in the PubMed and SciELO databases. The research was not limited to a specific time period and included all articles in such databases.Data synthesis: The Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the loss of imprinted gene expression within the paternal chromosome 15q11-q13. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism and complex behavioral and intellectual difficulties. PWS individuals also may present other comorbidities, such as sleep disorders, scoliosis, constipation, dental issues and coagulation disorders. The follow-up protocol of the Children’s Institute at Universidade de São Paulo is based on four main pillars: diet, exercise, recombinant human growth hormone (rhGH) therapy and behavioral and cognitive issues. The diet must include a caloric restriction of 900 kcal/day, according to the Prader-Willi Eating Pyramid and exercise plan is focused on daily aerobic exercises and postural therapy. The rhGH therapy is highly recommended by the international scientific literature and must be started as soon as the diagnostic is made. The management of behavioral issues is based on strategies to establish routine and rules. Conclusions: If the general pediatrician becomes more familiar with PWS, the diagnosis and treatment will start earlier, which is essential to improve the quality of life and care for these individuals.

Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

“…An early team approach to patient management allows improved quality of care and provides these individuals with a better quality of life. 1 During early childhood, delayed motor and language development are observed; average milestones are achieved at approximately double the expected age. Intellectual and learning disabilities are variable and generally evident by the time the child reaches school age.…”

Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature

“…Prevention of obesity and appetite control are important therapeutic strategies. Early intervention, strict diet control, and GH therapy can improve quality of life ( 25 ). GH is a safe and effective drug to use for PWS treatment, as it promotes carbohydrate and fat metabolism, ensures the normal growth and development of children with PWS, controls body mass index, and improves cognitive function.…”

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

“…PWS has a prevalence rate of 1/10,000-30,000 and is characterized by endocrine abnormalities due to hypothalamicpituitary insufficiency and complex physical, behavioral and intellectual difficulties. Individuals with PWS can present several different endocrine disorders, most of them caused by hypothalamic-pituitary insufficiency [140,169]. The phenotype is likely due to hypothalamic dysfunction, which is responsible for hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities, including growth hormone and TSH deficiencies, hypogonadism and central adrenal insufficiency.…”