A - Z of medical issues
Many medical problems are covered in our Medical Alerts handbook download free and offered in several languages).
Adult Medical Care and Evaluation in PWS
An Overview of Medical Problems for Physicians
Approved by the Clinical and Scientific Advisory Board of the International Prader-Willi Syndrome Organisation (IPWSO) January 2018 Download pdf
Ageing in PWS
A collection of articles covering physical and cognitive health issues in the ageing person with PWS.
Autism & PWS
Elizabeth Dykens, Evon Lee, Elizabeth Roof "Prader-Willi Syndrome & Autism Spectrum Disorders: an evolving story
Dementia in a Woman with Prader-Willi Syndrome
Margje Sinnema a,b,*, Constance T.R.M. Schrander-Stumpel a, Hans E.G. Verheij c, Mireille Meeuwsen c, Marian A. Maaskant b,d,e, Leopold M.G. Curfs a,b
Anesthesia and Prader-Willi Syndrome
Children with Prader-Willi Syndrome may be at increased risk for post-operative complications, most of which occur within 24 hours after surgery...
Behaviour and Genetic Subtypes
Some behavioral features of Prader-Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size. Read more.
Beyond the Diet - for Dieticians
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
Central Adrenal Insufficiency - GH concerns
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
Constipation in PWS is becoming more common as a cause of gastric intestinal problems. It is important that family members, caregivers, and medics know more about this condition in PWS. Read more Also download an algorithm which shows step-by-step procedures for GI complaints...
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....
Diabetes in PWS
"Diabetes mellitus is not a diagnostic criterion for Prader-Willi syndrome (PWS), but it is often found in PWS patients. The etiology for diabetes mellitus in PWS may be related to the morbid obesity and consequent insulin resistance, because a decrease of oxytocin neurons and leptin resistance in PWS may cause hyperphagia, inducing obesity. However, treatment with growth hormone (GH) is beneficial for the majority of GH-deficient PWS children, because relative decreased fat mass and increased fat-free mass could prevent obesity and concomitant insulin resistance. Hypogonadism is thought to be due to hypogonadotrophic hypogonadism in a majority of PWS patients. Hypergonadotrophic hypogonadism secondary to cryptorchidism and its treatment is shown in other cases. Low luteinizing hormone and high follicle-stimulating hormone levels in PWS cases in young men with idiopathic oligospermia or in the early stages of puberty is less frequently reported."
Prader-Willi syndrome, diabetes mellitus and hypogonadismT. Nagai1, M. Mori2
Reduced energy intake diet will help with weight control. J. Miller.
Differences between Genetic Subtypes
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.
Gastric Intestinal Problems - a comprehensive overview
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 (see also GI alert (below) and Stomach Necrosis)
Gastroparesis - the newest threat
Members of the Prader-Willi California Foundation and the national Prader-Willi Syndrome Association (USA), have read about or discussed at a meeting about gastroparesis. There have been articles about the fact that it exists, alerts about it (Medical Alert: Gastrointestinal Issues in Individuals with PWS ), and now a peek at the likely incidence rate. What we haven’t yet received enough information about is: “How do we know if our child/adult has it and what can we do about it?” This is the focus of this article. View
Genomics of Childhood Obesity and Obesity-Related Disorders
The genomics of childhood obesity is an important topic to investigate and gain a better understanding of the role of genes and abnormalities which account for about 50% of obesity. Read more. Article by Merlin G. Butler, M.D., Ph.D., F.F.A.C.M.G..
A self-contained step-by-step set of procedures to be performed when there is any reason to suspect gastro-intestinal problems. Designed by James Loker, M.D., Pediatric Cardiologist; Ann Scheimann, M.D., M.B.A., Gastroenterologist; PWSA (USA) Clinical Advisory Board Members View
GI Gastroparesis alert
The death of an 8 year old child from gastric perforation alerted the PWS world to this extremely dangerous condition. Please read the (May 2013) report from the USA. View
Growth Hormone Consensus Statement
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
Health Supervision for Children with Prader-Willi Syndrome
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
Oedema and Cellulitis in PWS
Fluid retention is usually noted first as swelling of the lower legs. In PWS this is a valuable warning signthat poor weight control is affecting the person’s health. Fluid retention in persons with PWS is usually asign of a decreased ability to breath adequately due to excessive weight (“obesity hypoventilation”). Withexcessive weight, breathing abnormalities first develop during sleep and can be present silently for yearswithout any other signs that something is amiss. Read more...
Osteoporosis in PWS
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....
Oxytocin in PWS
There has been a lot of interest and excitement about three pharmacological products being researched that may have an impact on PWS. One getting a lot of publicity is oxytocin.
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
The following guidance is offered for the psychiatrists and psychologists who are facing the challenge of treating a very complex patient with an unfamiliar condition, PraderWillie syndrome. The material here is based on a our clinical experience of inpatient and outpatient crisis intervention with hundreds of cases of persons with PWS of all ages. 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 - Recommendations for Evaluation of Breathing Abnormalities associated with Sleep in PWS
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...
Scoliosis - Guidelines on Monitoring and Treatment for Children
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
Stomach Necrosis and Rupture
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...
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