Prader-Willi syndrome: Treatment, symptoms, advice & help
About prader-willi syndrome
Prader–willi syndrome (abbreviated PWS) is a rare genetic disorder in which several genes on chromosome 15 (q 11-13) are deleted or are unexpressed on the paternal chromosome.
Prader-willi syndrome: Incidence, age and sex
The incidence of Paper-Willi syndrome is approximately 1 in 16,000 live births.
Signs & symptoms of prader-willi syndrome: Diagnosis
The main clinical features are -obesity, almond-shaped palpebral fissures, hypogonadism, small hands and feet, hypotonia in infancy. The affected individuals may also have narrow bifrontal diameter, strabismus, frequent skin picking, leading to scabs and scars.
These patients are hypotonic at birth. They often have failure to thrive in infancy and may require tube feeding. However, by 6 months to 6 years of age, appetite increases, and they rapidly begin to put on weight.
Performance: Mild to moderate mental retardation is present. Behaviour problems are frequent and include excessive eating, rage behaviours (especially when denied food), and eating unusual food stuffs. Psychiatric problems may develop in adolescents. Deletion of chromosome 15q11-q13 is detectable by high-resolution chromosome analysis or FISH in 70%. The deleted segment is always paternal, in contrast to the Angelmen syndrome in which the maternal copy of the same chromosome segment is deleted.
Causes and prevention of prader-willi syndrome
It is a genetic disorder where seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. The paternal gene origin is lost due to deletion and the maternal genes are silenced due to imprinting. A closely related condition - Angelman syndrome is due to maternally deleted and paternally imprinted genes in the same genetic region.
Prader-willi syndrome: Complications
Because of severe obesity, obstructive sleep apnea may occur as a complication. Psychiatric and behavioural problems are the most common cause of hospitalization
Prader-willi syndrome: Treatment
Prader–Willi syndrome has no cure. Physiotherapy to improve muscle tone and speech and occupational therapy are indicated. During the school years, children benefit from a structured learning environment as well as special education. Prescription of daily recombinant growth hormone injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. Because of severe obesity, obstructive sleep apnea is common, and a positive airway pressure is often needed.