Rare Disease Show Episode 16: Understanding Prader Willi Syndrome with Dr Suruchi Goyal Agarwal

#raredisease #rarediseaseawareness #praderwillisyndrome

Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.

Rare Disease Show Episode 15-- In today's show we will cover Prader-Willi Syndrome.

Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects many parts of the body. It is caused by the loss of function of specific genes on chromosome 15. The hallmark features of PWS include an insatiable appetite leading to chronic overeating (hyperphagia), obesity, developmental delays, and behavioral challenges. Individuals with PWS often have muscle weakness, short stature, intellectual disabilities, and incomplete sexual development. Early diagnosis and management through diet control, hormone therapies, and behavioral interventions can help improve the quality of life for those with the condition.

Dr Suruchi Goyal Aggarwal, Consultant - Paediatrics and Paediatric Endocrinology at Manipal Hospital, Varthur Road, shares her insights by addressing questions asked by the Medical Dialogues team.

1. Why is Prader-Willi Syndrome categorised as a rare disease? What are the early signs parents should look for?
2. At what age is it typically diagnosed? Any specific diagnostic tests or tools for its diagnosis?
3. How does Prader-Willi Syndrome affect growth, and what role does growth hormone therapy play in managing these effects?
4. What are the common developmental delays associated with Prader-Willi Syndrome, and how can parents best support their child’s development?
5. What strategies do you recommend for managing the excessive appetite (hyperphagia) and preventing obesity in children with Prader-Willi Syndrome?
6. What behavioral challenges are common in children with Prader-Willi Syndrome, and how can they be effectively managed at home and in school?
7. What nutritional guidelines should parents follow to help manage the unique dietary needs of a child with Prader-Willi Syndrome?
8. How do sleep disorders, such as sleep apnea, commonly affect children with Prader-Willi Syndrome, and what treatments are available?
9. Are there any new developments or promising treatments for Prader-Willi Syndrome that could potentially improve the quality of life for these children?

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