There are many different health care professionals who may be involved in the care of someone with PWS throughout their lives: paediatricians, geneticists, endocrinologists, orthopaedic specialists, physicians, sleep physicians, ophthalmologists, GPs, nurses, dietitians, speech therapists, psychiatrists, psychologists, health visitors, occupational therapists and physiotherapists. Hence a multidisciplinary team approach is the best, if this can be achieved.
People with PWS have a complex physical make-up which includes:
In addition, most have learning disabilities, ranging from borderline to severe, and behavioural problems.
Many may have or develop additional problems such as scoliosis, strabismus, osteoporosis and others. Skin-picking and variations of this (eg hair pulling) are very common, particularly as the person gets older. In extreme cases, wounds are never allowed to heal because of the person constantly picking at the site - these can be anywhere on the body and often in multiple places.
Additionally, mental health problems can occur in teenagers and adults, including anxiety, depression and psychosis. It is thought that the latter is more likely to affect those who have the disomy-type of PWS. Click here for further information about the characteristics of PWS.
There are several unusual features of PWS of which health care professionals need to be aware. These include a high pain threshold, poor vomiting reflex and problems with temperature regulation. Click here for more details about these and other anomalies.
Prader-Willi Syndrome has a number of characteristics and potential health problems which may not be included within the framework of a standard health check for people with learning disabilities, as recommended in the government document "Valuing People Now". Equally, these may also impact on diagnosing various health problems.
For further information for GPs, click here.
Obesity, resulting from a combination of hyperphagia (excessive eating) and physical inactivity with reduced muscle mass is inevitable unless the person's energy intake is strictly controlled. Weight should be carefully monitored from birth onwards, and adjustments to energy intake made as necessary.
Once the initial failure to thrive phase of the syndrome has passed, and the child's interest in food increases (usually around 2-4 years), the threat of obesity is ever-present. Children quickly put on weight and have been known to reach weights in excess of 45 kg (over 7 stone) before the age of 6 years. Parents may need guidance and support to help their child remain at a reasonable weight. However, a few parents have been known to under-feed their child in their concern to keep weight within normal levels. Click here for further information about weight management.
Click here for information about managing feeding difficulties in newborns and weaning infants with PWS.
Early death in teens, 20s and 30s may result from diseases associated with massive obesity and exacerbated by the PWS physical make-up: heart failure, diabetes, breathing problems, cellulitis and septicaemia. However, this is not inevitable. The oldest known person with PWS in the UK died at the age of 74, and there are several living in their 50s and 60s.
Most people with PWS also have learning disabilities ranging from borderline to severe. However, a minority do not have learning disabilities which are evident from IQ testing and have significant academic achievements, including O and A level certificates. Behaviour can often be very challenging, as can food-seeking and stealing. However, not all people with PWS present with such severely challenging needs and many are friendly, thoughtful and have a good sense of humour. Click here for more information about behaviour management and mental health issues
PWS is not hereditary in around 95% of cases. Confirmation in 99% of cases can be achieved by genetic testing. Click here for more information about the genetics of PWS.
Clinical diagnostic criteria can be found on the PWSA USA website here
The PWSA UK is keen to encourage the development of multidisciplinary clinics for both children and adults with PWS. There are currently four clinics for children in Glasgow, Birmingham, Brighton and London, and one clinic for adults in London. To learn more about these initiatives, please contact us.
Further information about the diagnosis and management of the syndrome can be found from this consensus recommendations paper (J Clin Endocrinol Metab. 93:4183-97, 2008)
Information about hormonal aspects of the syndrome is available from You and Your Hormones - a website run by the Society for Endocrinology:
Information about ethical issues with regard to eating and PWS can be found here.
PWSA USA - contains a large amount of medical information
Foundation for Prader-Willi Research - details of research projects and findings funded by Canadian-based FPWR
International PWS Organisation - Publications and news about PWS internationally