Medical

GH Consensus Statement

On June 15, 2009, the PWS Association (USA) Clinical Advisory Board put out a consensus statement regarding growth hormone treatment in Prader-Willi Syndrome.

With the advent of puberty, the window of opportunity closes for increasing height through GH intervention due to a "capping" of skeletal growth potential. Further, GH levels normally decline with age in all populations.

Central Adrenal Insufficiency in PWS

Because some children with PWS do not have fevers when ill, it can be difficult for parents and physicians to know when the child is sick enough to put the body under significant stress to accuratelyl assess the presence of central adrenal insufficiency. Thus a stimulation test may be the best way to detect adrenal insufficiency.

Anaesthesia concerns for patients with PWS

Individuals with PWS have in addition other characteristics such as an abnormal physiologic response to hypercapnia and hypoxia, a narrowed oropharyngeal space, hypoplastic dental enamel, thick secretions, prolonged and exaggerated response to sedatives, and increased risk of gastric aspiration that can lead to potential difficulties in airway management during the perioperative period

Osteoporosis

Many individuals with PWS have osteoporosis (low bone mineral density). This condition is most often diagnosed in adolescence and adulthood. The cause(s)of the osteoporosis is not totally clear, but it is thought to be primarily due to the growth hormone and sex hormone deficiencies that occur in PWS. Hypotonia is probably a contributing factor as well.

Medical Overview for professionals

This revised paper covers life-threatening medical concerns such as: Anesthesia, medication reactions; high pain thresholds, respiratory concerns, lack of vomiting, severe gastric illness, body temperature abnormalities, diabetes, osteoporosis, hyperphagia, diagnostic testing, quality of life issues.

Guidelines for Medical Professionals

For a clinical diagnosis, the following is a consensus diagnostic criteria for Prader-Willi Syndrome. Authors: Holm et al. Published 1993, Pediatrics 91, 398

Growth Hormone Therapy

There is now well-established research world-wide that supports the evidence that GHT not only increases height (linear growth) but also does much to improve body composition.

Ghrelin

Recently a lot of information has been circulating about a hormone called "ghrelin" which has been found to interfere with the ability to lose weight. The sensation of hunger is extremely powerful. We all experience it and we believe those with PWS experience it even more strongly and constantly. Feeling hungry can result in irritability, anxiety, stress in the best of us. The nature of that powerful stimulus has, until now, never been clearly identified.

The Genetics of PWS

By Linda Keder, Editor, The Gathered View (Reproduced with permission from The Gathered View)
When the medical world first learned about Prader-Willi syndrome in 1956, doctors had no idea what caused people to have this collection of features and problems that we now know as PWS. It is only in the past 20 years that researchers have discovered the genetic changes on chromosome 15 that are responsible for the syndrome. In 1981, Dr. David Ledbetter and his colleagues reported a breakthrough discovery

PWS look-alike disorders

In April 2001, Celanie K. Christensen, MS, and Bryan E. Hainline, MD, PhD from the Dept of Medical and Molecular Genetics and Pediatrics of Indiana University School of Medicine, wrote a comparative article on syndromes that have some similar characteristics...