Prader-Willi syndrome (PWS) is a rare, complex genetic disorder affecting approximately 1 in 15,000 to 1 in 25,000 newborns. It's characterized by a diverse range of symptoms impacting multiple systems of the body, primarily affecting metabolism, muscle tone, and behavior. While the life expectancy for individuals with PWS has improved significantly in recent decades thanks to better medical care and understanding, it remains a lifelong condition requiring ongoing management and support. This article will explore various aspects of PWS, from its early infancy presentation to its manifestations in adulthood, addressing common concerns and providing information regarding life expectancy, notable individuals with the condition, and resources for further understanding.
Prader-Willi Syndrome Fact Sheet
PWS arises from a defect in the expression of genes located on chromosome 15. Specifically, it involves the loss of function of genes in the paternally inherited region of chromosome 15q11-q13. This can occur through several mechanisms:
* Deletion: The most common cause (approximately 70% of cases) is a deletion of the paternal copy of this chromosome region.
* Uniparental Disomy (UPD): In approximately 25% of cases, both copies of chromosome 15 are inherited from the mother, with no contribution from the father.
* Imprinting Defect: A less frequent cause (approximately 5% of cases) involves a problem with the imprinting mechanism, where the paternal genes in this region are silenced, regardless of whether the chromosome is present.
The absence of these paternally expressed genes leads to the characteristic features of PWS. It's crucial to understand that PWS isn't a single disease with a uniform presentation. The severity and combination of symptoms can vary significantly from person to person.
Prader-Willi Syndrome in Infancy
Infants with PWS often present with a distinctive set of characteristics:
* Hypotonia (Floppy Baby Syndrome): Newborns typically exhibit low muscle tone, making them appear "floppy" and less active than their peers. This can lead to difficulties with feeding, sucking, and swallowing, often resulting in poor weight gain.
* Feeding Difficulties: The reduced muscle tone in the mouth and throat can make it challenging for infants to suckle effectively. They may require specialized feeding techniques or assistance. While feeding difficulties are common initially, the characteristic insatiable hunger develops later.
* Poor Sucking Reflex: This weakness contributes to the feeding difficulties and can necessitate the use of feeding tubes in some cases.
* Delayed Development: Infants with PWS often show developmental delays in reaching milestones such as sitting, crawling, and walking.
* Cryptorchidism (Undescended Testes): This is more common in males with PWS.
* Characteristic Facial Features: While not always present in infancy, some infants may exhibit subtle facial features that become more apparent as they grow older, including almond-shaped eyes, a narrow forehead, and a small mouth.
Prader-Willi Syndrome in Adults
As individuals with PWS enter adulthood, the hallmark characteristics shift. While hypotonia may improve to some extent, other challenges become more prominent:
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