A persistent feeling of hunger- Prader-Willi Syndrome

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Prader-Willi syndrome (PWS) is a rare genetically disorder characterized with incomplete sexual development, physical, mental and behavioral problems as well as persistent desire to eat as a result of prolong hunger feeling. As a result of consumption of food excessively, the fellow with this condition may have weight complication. PWS is a leading cause of genetically morbid obesity in children.

 

Symptoms
The symptoms are basically grouped into two stages. The first symptoms occur within the first year of life while the second stage begins from the ages of 1 and 6 years.

Common symptoms within a year include hypotonia (a condition when the child staggers when held), restricted or limited physical development because of feeding difficulty, small mouth and thin upper lip, restricted response to stimulation, eyes and skin depigmentation, fatigue and underdeveloped genitals.

The common symptoms beginning from age 1 to 6 years urge for food and body weight gain, limited growth and strength, underdeveloped sexual hormones, non descending testes in males irregular and scanty menstruation in females, poor muscle mass, small hands and feet, restricted cognitive development, retarded motor and verbal skills, behavioral and mental disorders, sleep apnea and scoliosis as well as high pain tolerance level and myopia.

 

 

Causes

It is a congenital problem mostly caused by faulty gene particularly chromosome 15. This genetic fault disrupts the functions of hypothalamus. Hypothalamus is located inside the brain which is responsible for regulating thirst and hunger and influences the secretion of hormones involved in sexual growth and development.

Head injury, tumour and removal of tumour often damage the hypothalamus leading to the emergence of PWS symptoms.
Behavioral problems or disorders such as a persistent urge to eat may also cause PWS.

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Diagnoses

The diagnosis can be done using methylation which is a form of genetic testing capable of detecting nearly all cases of PWS. Early diagnosis makes treatment workable.

 

 

Treatments

While no specific cure is available for this condition, there are several strategies to minimizing the effects of the symptoms. Here are the available management options:
The role of nutritional intake is significant in PWS. There is need to monitor the weight and growth of the baby, providing high calorie food with baby having feeding challenges, weight-control diet.

The use of sex hormone replacement therapy (HRT) like testosterone for boys and progesterone for girls to boost sexual development as well as mitigating the risk of osteoporosis.

Psychologist and Psychiatrist services may be employed in cases mental health disorders such as mood disorders and behavioral problems.

Proper monitoring to minimize food intake must be carried out by the parents or the guardians of the affected person.
Family support and encouragement are highly required by people with PWS.

 

 

Associated complications

The risk of developing stroke and other heart related diseases as well as diabetes 2 are high in people with PWS.
Tooth erosion is prevalent in people with PWS.
Osteoarthritis and osteoporosis may be inevitable in people with PWS.



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