Prader-Willi Syndrome
Prader-Willi syndrome which is also abbreviated as the PWS is a very rare genetic disorder, in which seven genes or some subset thereof on chromosome 15 are missing or unexpressed on the paternal chromosome. This disease was at first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. You must also know that the incidence of PWS is between 1 in 10,000 and 1 in 15,000 live births. The distinction of chromosome by parental origin is due to imprinting and PWS has also one of the sister syndrome which is known as the Angelman syndrome which affects maternally imprinted genes in the region.
Diagnosis
As far as the numbers of effected new born babies are concerned it is not really surprising to note that approximately 1 in 10,000 to 1 in 15,000 new borns are affected by it. The disease is often characterized by hypotonia, short stature, polyphagia, obesity, small hands and feet, hypogonadism, and mild mental retardation.
Currently, the syndrome is diagnosed through genetic testing and almost all the doctors really recommend the early diagnosis for newborns that shows pronounced hypotonia. The Early diagnosis is really very helpful and advantageous as it allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are always indicated for children with PWS. The growth hormone really supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. This is why the GH injections are really recommended for such patients.
I must say that there are several aspects of the PWS that support the concept of the deficiency of the growth hormones among the children who are suffering from the PWS. Specifically the individuals with PWS have short stature, are generally obese with abnormal body composition. They have reduced fat free mass. The have reduced LBM and total energy expenditure and I must also say that it has also reduced bone density.
It is quiet certain that the PWS is characterized by the hypogonadism. However it might be treated with the hormone replacement therapy.
This disease is often associated with an extreme and insatiable appetite, which results into morbid obesity. However there is currently no consensus as far as the cause for this particular syndrome is concerned. The normal functioning of the hypothalamus is really disrupted due to the genetic abnormalities in chromosome 15.
Treatment
There is really no cure for this disease. However I must tell you that many treatments are really under observation. Speech and the occupational therapy are also indicated. As far as the schooling is concerned the children are really vastly benefited by the highly structural learning environment.
However up till now this disease really remains incurable.
