Prader–Willi syndrome
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Obesity, Sleep & Internal medicine
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| Prader–Willi syndrome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Hypotonia, feeding difficulties, poor growth, delayed development, hyperphagia, obesity, intellectual disability, behavioral problems |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | |
| Causes | Genetic disorder (loss of function of specific genes on chromosome 15) |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | Angelman syndrome, Bardet–Biedl syndrome, Cohen syndrome |
| Prevention | |
| Treatment | Dietary management, hormone therapy, behavioral therapy |
| Medication | Growth hormone |
| Prognosis | |
| Frequency | 1 in 10,000 to 30,000 |
| Deaths | |
Prader-Willi Syndrome (PWS) is a complex genetic disorder characterized by a series of physical, cognitive, and behavioral symptoms. PWS is caused by the loss of function of specific genes on chromosome 15. It is a rare condition, with an estimated incidence of 1 in 15,000 to 1 in 25,000 births.[1]
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Genetics
PWS is caused by the absence of certain active genes in the region of chromosome 15 that is inherited from the father. This can occur through three main mechanisms: paternal deletion, maternal uniparental disomy, or an imprinting defect.[2]
Symptoms
The symptoms of Prader-Willi Syndrome can be grouped into two stages: those seen in infancy and those that develop during childhood.
Infantile Stage
In newborns, PWS is characterized by:
- Poor muscle tone (hypotonia), leading to a weak cry and a poor sucking reflex
- Poor feeding and failure to thrive
- Distinct facial features, such as almond-shaped eyes and a narrow forehead
- Undescended testicles in boys
- Slow physical and mental development[3]
Childhood Stage
As children with PWS grow older, the syndrome is marked by:
- Excessive hunger and food-seeking behavior, often leading to rapid weight gain and obesity
- Development of type 2 diabetes
- Short stature and small hands and feet
- Intellectual impairment, typically in the mild to moderate range
- Behavioral problems, including temper tantrums and stubbornness
- Light skin and hair compared to family members
- Hypogonadism leading to incomplete sexual development and infertility[4]
Diagnosis
Diagnosis of PWS involves a combination of clinical findings and genetic testing. Methylation analysis is the standard initial diagnostic test, which can detect over 99% of cases. Further genetic testing can then be performed to determine the specific genetic cause.[5]
Management
While there is currently no cure for Prader-Willi Syndrome, there are treatments available to manage its various symptoms. These may include a strict diet and regular physical activity to manage weight, hormone therapy (such as growth hormone or sex hormones), behavioral therapies, and educational support.[6]
Growth Hormone Therapy
Growth hormone therapy can help children with PWS reach a more normal height and can also improve their muscle tone, physical strength, and agility.[7]
Dietary Management
Dietary management is essential in individuals with PWS due to the risk of obesity from overeating. A low-calorie, well-balanced diet is typically recommended, along with close monitoring of the individual's weight.[8]
Behavioral Therapy
Behavioral therapies can help manage the behavioral problems associated with PWS. This may include cognitive-behavioral therapy, psychotherapy, and social skills training.[9]
Educational Support
Individuals with PWS often benefit from special education services due to their intellectual impairment. An individualized education plan (IEP) can be developed to meet the specific needs of the child.[10]
Prognosis
With appropriate management, individuals with PWS can lead fulfilling lives. However, they often require lifelong care and support due to the chronic nature of the condition. The main cause of mortality in PWS is complications related to obesity, such as heart disease and type 2 diabetes, but this risk can be reduced with proper management.[11]
Research Directions
Future research in PWS is focused on understanding the specific functions of the genes involved in the syndrome, exploring potential curative treatments, and developing better strategies for managing the symptoms of the condition.[12]
References
- ↑ Prader-Willi Syndrome - GeneReviews¬Æ(link). NCBI Bookshelf. Accessed 2023-05-03.
- ↑ Prader-Willi syndrome(link). Genetics Home Reference. Accessed 2023-05-03.
- ↑ Prader-Willi syndrome - Symptoms and causes(link). Mayo Clinic. Accessed 2023-05-03.
- ↑ Prader-Willi syndrome - Symptoms(link). NHS. Accessed 2023-05-03.
- ↑ Diagnosis & Testing(link). Prader-Willi Syndrome Association (USA). Accessed 2023-05-03.
- ↑ Treatment & Management(link). Prader-Willi Syndrome Association (USA). Accessed 2023-05-03.
- ↑ The benefits and drawbacks of growth hormone treatment in Prader-Willi syndrome(link). NCBI. Accessed 2023-05-03.
- ↑ Dietary Management(link). Prader-Willi Syndrome Association (USA). Accessed 2023-05-03.
- ↑ Behavioral Aspects of Prader-Willi Syndrome(link). NCBI. Accessed 2023-05-03.
- ↑ Education(link). Prader-Willi Syndrome Association (USA). Accessed 2023-05-03.
- ↑ Prader-Willi syndrome: an update and review for the primary pediatrician(link). NCBI. Accessed 2023-05-03.
- ↑ Prader-Willi Research(link). Foundation for Prader-Willi Research. Accessed 2023-05-03.
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Contributors: Prab R. Tumpati, MD
