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PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW
Caroline Buff Gouveia Passone1, Paula Lage Pasqualucci1, Ruth Rocha Franco1
1Instituto da Criança, São Paulo, SP, Brasil.
Insights
Early diagnosis and management of Prader-Willi Syndrome (PWS) are crucial. Pediatricians familiar with PWS can improve patient outcomes through timely intervention and comprehensive care strategies.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by the loss of imprinted gene expression on chromosome 15q11-q13.
- PWS presents with endocrine abnormalities (GH deficiency, obesity, adrenal insufficiency, hypothyroidism, hypogonadism) and complex behavioral/intellectual issues.
- Associated comorbidities include sleep disorders, scoliosis, constipation, dental problems, and coagulation issues.
Purpose of the Study:
- To review current data on Prader-Willi Syndrome.
- To provide recommendations for pediatricians regarding early diagnosis and follow-up of PWS patients.
Main Methods:
- Systematic review of scientific articles.
- Literature search conducted in PubMed and SciELO databases without time restrictions.
Main Results:
- PWS management involves a multi-pillar approach: caloric-restricted diet (900 kcal/day), daily aerobic exercise and postural therapy, recombinant human growth hormone (rhGH) therapy initiated early, and behavioral/cognitive management with routine and rules.
- rhGH therapy is strongly supported by international literature for PWS treatment.
Conclusions:
- Increased pediatrician awareness of PWS is essential for earlier diagnosis and treatment.
- Timely diagnosis and intervention significantly improve the quality of life and care for individuals with PWS.
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.
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