Prader-Willi Syndrome

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Description

Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects many aspects of an individual‘s life. It‘s characterized by a wide range of symptoms, including feeding difficulties in infancy, insatiable hunger and obesity, intellectual and developmental delays, and behavioral challenges. This blog provides a comprehensive overview of PWS, covering its causes, diagnosis, management strategies, and resources for individuals and families affected by this condition.

Genes Involved

Genes Involved in Prader-Willi Syndrome:

The genetic basis of PWS lies in a region on chromosome 15. There are three main genetic mechanisms that can cause PWS:

1. Deletion: The most common cause, where a portion of chromosome 15 is missing from the paternal copy.
2. Uniparental Disomy (UPD): Both copies of chromosome 15 are inherited from the mother, with no contribution from the father.
3. Imprinting Defect: The paternal copy of chromosome 15 is silenced due to a defect in the imprinting process, preventing the genes from being expressed.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms of Prader-Willi Syndrome:

• Infancy:
  • Feeding difficulties, poor sucking reflex
  • Weak muscle tone (hypotonia)
  • Delayed development (sitting, crawling, walking)
• Childhood:
  • Insatiable hunger and constant desire to eat (hyperphagia)
  • Obesity
  • Short stature
  • Small hands and feet
  • Behavioral issues, such as temper tantrums, stubbornness, and obsessive-compulsive tendencies
  • Learning difficulties and intellectual disabilities
• Adolescence and Adulthood:
  • Continued weight management challenges
  • Sleep apnea
  • Difficulty with social interaction and relationships
  • Anxiety and depression

Causes

Causes of Prader-Willi Syndrome:

Prader-Willi Syndrome is a genetic disorder that occurs due to an error in the genetic material during the formation of sperm or egg cells. This error affects a specific region on chromosome 15, which contains genes essential for normal growth, development, and appetite regulation.

Inheritance/recurrence risk

Inheritance and Recurrence Risk:

• Inheritance: PWS is not typically inherited from parents. It arises due to a new genetic mutation.
• Recurrence Risk: The risk of having another child with PWS depends on the specific genetic mechanism responsible for the condition in the first child. Generally, the recurrence risk is lower than 1%.