Day: 3 May 2013

Prader-Willi syndrome

Last Updated on 03/05/2013 by Vivien Ayinotu

You might be a lover of Prada products but this is something else…

Prader-Willi syndrome(PSW) is a rare genetic disorder that causes characteristics such as obesity due to an excessive appetite. 

 Signs and Symptoms
  • Newborns are often small and floppy.
  • Male infants may have undescended testicles.
  • Trouble eating as an infant, with poor weight gain
  • Almond-shaped eyes
  • Delayed motor development
  • Narrow bifrontal skull
  • Excessive intake of food due to feeling of permanent hunger 
  • Rapid weight gain  

  • Short stature 
  • Very small hands and feet in comparison to the child’s body.
  • Sex glands produce little or no hormones
  • Slow mental development. 
  • learning difficulties
  • lack of secondary sexual development
  • behavioural problems, such as temper tantrums or stubbornness

Children have an intense craving for food and will do almost anything to get it. This can result in uncontrollable weight gain and morbid obesity.

 Causes
-Prader-Willi syndrome is caused by a gene missing on part of chromosome 15 .Normally, each parents pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father’s chromosome. Others often have 2 copies of the mother’s chromosome 15.
The genetic changes occur randomly.

-Sufferes usually do not have a family history of the condition.
 

Investigation

Genetic testing is available to test children for Prader-Willi syndrome.
As the child grows older, laboratory tests may show signs of morbid obesity, such as:

  • Abnormal glucose tolerance
  • Above normal level of the hormone insulin in the blood
  • Decreased level of oxygen in the blood
  • Failure to respond to luteinizing hormone releasing factor 

    Management

If a child with PWS follows a restricted diet and control their weight, they would be able to enjoy a good quality of life although, its highly unlikely that they lead a fully independent lives.

Heimlich manoeuvre;a procedure for managing a chocking patient, is been taught to parents or guardians of patients because they are at high risk of choking as compulsive eating abnormally expands their stomach.

There is no cure for PWS, so treatment aims to manage the symptoms and associated problems. For parents, this includes dealing with their child’s behavioural problems and excessive eating.

Limiting calories will control the obesity, but the family, neighbors, and school must work together closely because the child will try to get food wherever possible.

Growth hormone is approved by the Food and Drug Administration for the treatment of Prader-Willi syndrome. It can help:

  • Improve physical strength and agility
  • Improve height
  • Increase lean muscle mass and decrease body fat
  • Improve weight distribution
  • Increase stamina
  • Increase bone mineral density

There have been some concerns that taking growth hormone therapy may lead to sleep apnea. A child who takes hormone therapy needs to have annual sleep studies to monitor for sleep apnea.
Low levels of sex hormones may be corrected at puberty with hormone replacement.
 

Complications
  • Type 2 diabetes
  • Right-sided heart failure
  • Bone (orthopedic) problems.

    This is a terrible health condition, at first parents would ensure that their children feed well and then try to restrain them from over eating. Lastly, they do not have a long life expectancy when compared to other children.