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Prader Willi syndrome is a rare congenital condition characterized by the presence of many mental, physical and behavioral anomalies. A unique trait of the syndrome is the occurrence of a perennial sense of hunger that typical commences after an affected child reaches an age of one year.

Individuals affected by Prader Willi syndrome have a strong yearning to keep on eating endlessly, which ultimately leads to obesity. Most of the complications associated with the disorder are due to obesity

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Prader Willi Syndrome Symptoms

The signs and symptoms of Prader Willi syndrome are classified into 2 stages. The initial signs which appear during the first year of life are as follows:

  • The patients elicit distinctive facial characteristics such as a thin upper lip, a head that tapers at the temples, a lowered mouth and almond shaped eyes
  • Babies with Prader Willi syndrome have poor muscle tone, which causes them to feel doughy or floppy when held in the arms
  • The anomalous muscle tone also affects the capability of the child to suck, leading to feeding difficulties. This can ultimately result in poor nutrition, inability to put on weight and failure to thrive.
  • Infants affected by Prader Willi syndrome elicit indifferent response to stimulation, have a weak cry, become easily tired, and wake up after much trouble
  • Uncoordinated movements of the eyes may also be noticed in the affected babies. The eyes may also drift to the sides

The signs and symptoms listed below may remain for the rest of a patient’s life and hence require effective management and treatment. They occur from one 14 years of age and include:

  • Children affected by Prader Willi syndrome are perpetually hungry and pine for food. They may eat large amounts of food in short intervals resulting in obesity
  • The presence of cognitive deficits may be seen. This can lead to learning problems
  • Children with Prader Willi syndrome may not reach their full growth potential. In addition to diminished muscle mass they posses short feet and hands. Also, by and large, they are shorter in stature as compared to members of the family
  • The testes in men and the ovaries in women may experience incomplete growth. This can lead to extremely low or no production of sex hormones. Menstruation may be absent or begin in the thirties. Men may elicit reduced body and facial hair. Deepening of voice quality does not occur. Infertility is common in both sexes
  • There is significant delay in reaching developmental milestones such as sitting up, walking and crawling
  • Various types of sleep problems such as sleep apnea may be noticed
  • A child with Prader Willi syndrome may experience communication problems due to delayed speech, which only occurs after reaching two years of age
  • Behavioral abnormalities including temper tantrums, aggressiveness, etc., and other disorders such as OCD are quite common in affected children
  • Spine curvature anomalies like scoliosis may also be observed in some children affected by Prader Willi syndrome
  • High tolerance levels for pain, fairer skin tone in comparison with family members, and nearsightedness are some of the rarer symptoms associated with Prader Willi syndrome

Causes of Prader Willi Syndrome

Mutation in one or more genes causes Prader Willi syndrome. The genes responsible for the disease are not known, but common belief attributes their presence in some section of chromosome 15.

It is known that other than the sex genes, all other genes occur in pairs and each copy of a pair is received for each parent. It is also known that when one copy of a particular gene gets expressed, then other copy is also expressed. It is rare to find only a paternal or maternal copy to be expressed.

Prader Willi syndrome occurs when some paternal genes are not expressed, due to:

  • Inheritance of two maternal copies of the chromosome 15 gene, with no paternal copy
  • Occurrence of a defect or an error in the paternal copy of chromosome 15 gene
  • An absence of the paternal copy in chromosome 15

The genetic abnormalities associated with Prader Willi syndrome cause the hypothalamus to malfunction. This part of the brain is vital to the regulation of hunger and thirst and also to the production and control of various hormones responsible for sexual development. Dysfunction of the hypothalamus is the main cause of the distinct symptoms of Prader Willi syndrome

Prader Willi Syndrome Treatment

  • Treatment of Prader Willi syndrome is focused at managing and alleviating the symptoms of the condition
  • Feeding difficulties resulting from poor muscle mass can be rectified via consumption of special food for growth and weight gain
  • Hormone replacement therapy can correct the reduced levels of sex hormones
  • The perpetual hunger cravings can be managed with help from a nutritionist
  • Speech therapy, behavioral therapy, occupational therapy, and other types of therapies may be used to correct disorders associated with Prader Willi syndrome
  • Counseling sessions with a psychiatrist and medications can help treat OCD and other psychological disorders.

Prader Willi Syndrome Pictures

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