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The following is a list of published papers which have been reviewed by IPWSO and which you may find helpful.
A collection of articles covering physical and cognitive health issues in the aging person with PWS. Read more...
Children with Prader-Willi Syndrome may be at increased risk for post-operative complications, most of which occur within 24 hours after surgery... read more
Some of our children with PWS are much more creative at getting food than some people can imagine. One example of the hundreds I could give, is the boy who would crawl into his parents' bedroom on his hands and knees in the middle of the night... ...read more View
A recent article in the journal of Clinical Endocrinology and Metabolism by Lind van Wijngaarden et al indicated that there may be a high frequency of central adrenal insufficiency (CAI) in individuals with Prader-Willi Syndrome....read more View
Persons with Prader-Willi Syndrome have sparse, thick, and sticky saliva. High caries activity, poor oral hygiene and extreme tooth wear have been described in case reports. Oral and dental problems have received too little attention by researchers....read more View
What are the differences in the effects of the different genetic causes of PWS? Researchers, by studying many people with each genetic type of PWS (primarily the most common deletion and uniparental disomy types) have identified a few differences between the groups. Most of these differences are in the frequency or severity of findings in the two groups. People with an imprinting defect appear to be most similar to those with UPD. Note: These are group differences, not individual differences. Read more...
The prevalence of GI issues in persons with PWS of all ages is quite high. In addition to early feeding difficulties, reflux and aspiration symptoms are frequent problems in infancy. Problems with digestion affect approximately 35% of adults. Constipation and diarrhoea... read more View
The recent death of an 8 year old child from gastric perforation has alerted the PWS world to this extremely dangerous condition. Please read the latest (May 2013) report from the USA. View
Since the commercial release of recombinant human growth hormone (GH) in 1985, therapeutic use of this medication has been studied in a varietyof medical conditions and genetic yndromes. Based on current medical knowledge, the Clinical Advisory Board of the Prader-Willi Syndrome Association (USA) has drafted and approved this policy statement to guide health care providers in the use of GH treatment in individuals with Prader-Willi syndrome (PWS)... read more
EDITOR’S NOTE: In April 2010 the FDA approved a second growth hormone treatment specifically for children with growth failure due to Prader-Willi syndrome. This latest product approval involves Omnitrope®, manufactured by Sandoz, Inc
Omnitrope was approved by the USA FDA, which is not an easy approval to get, and two of our top endocrinologist (Dr. Moris Angulo & Dr. Jennifer Miller) approved everything that is in the booklet. You can download the pdf of this, and you can order hard copies through PWSA (USA).
This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders. Pediatrics 2011;127:195-204 .... read more
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.... read more
PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect... read more
Not as rare as you might think - nearly 30 million Americans (almost 1 in 10) have a diseases considered rare in the US. Nearly 7,000 diseases are listed as rare.... Rare diseases are often called orphans because they are forgotten or "unclaimed"...Mothers lead the way in researching rare disorders, they are the ones with the strong need to understand their child's disability... read more
Sleep has been an important focus of study as we learn more about Prader -Willi syndrome (PWS). Cataletto, Hertz and Angulo examine the sleep characteristics of 20 infants with Prader-Willi syndrome between ages 2 and 36 months in their study, recently published in The Romanian Journal of Rare Diseases. They examined overnight sleep studies in infants with PWS before the onset of obesity and without concomitant medications... read more
Children with Prader Willi Syndrome have an incidence of developing scoliosis at rates between 40 -90%. Approximately15% of children with Prader Willi Syndrome will develop severe or significant curves, requiring bracing or surgery. The earlier the curve is detected, the better the possibilities for treating the curve with casting or bracing... read more
Possibly Related to Chronic Gastroparesis - A Cause of Death from Sepsis, Gastric Necrosis or Blood Loss. Signs and symptoms include: vomiting, loss of appetite, complaints of pain, lethargy, abdominal or stomach bloating and dilation... read more
Water Intoxication Alert
Water intoxication is well known to occur in children and adults with eating disorders regardless of mental abilities, and also in individuals who are severely retarded. This is not a new phenomenon. The problem of water intoxication is a difficult one and may be related to two different physiological mechanisms: some of the patients we have seen have compulsive water drinking and often need to be restricted and / or monitored in order to keep their electrolytes in balance; this seems to be a problem related to the PWS itself.... read more