prader-willi syndrome

Prader-Willi Syndrome (PWS) is an uncommon congenital condition (present at birth). It is characterized by mental retardation, short stature, decreased muscle tone, emotional difficulties, (liabilities) and also an insatiable appetite. It is believed to be caused by an abnormality in the genes that occur, however statistically also appears to be a genetic disorder and runs in families. Children born with PWS often have early feeding difficulties and require tube feeding. Along with emotional liability is behavioural problems, some can be severe. The syndrome was first discovered in 1956 by Dr. Prader, Dr. Labhart, and Dr. Willi.

The large and continuous appetite can certainly lead to obesity. Thus being inflicted with health implications inherent in obesity is likely for an individual suffering Prader-Willi syndrome. Stealing food, consumption of pet foods and often items that are spoiled are common amongst sufferers of PWS. Appetite problems are caused by a defect in the hypothalamus which is a part of the brain that regulates hunger and signals when an individual is full, this defect means that sufferers never actually feel full.

The following complications are not uncommon among PWS suffers;

Sleep disordershigh pain thresholdepisodes of anger and rageCompulsive behaviours such as picking at the skin.Sometimes even psychoses. Obsessive behaviourPerseveration and stubbornnessDecreased sex drive

Physical complications associated with Prader-Willi Syndrome are;

Delayed motor developmentAbnormal growthspeech impairmentsstunted sexual developmentpoor muscle tonedental problemsobesity and diabetes type II

If Weight of a PWS suffer is controlled and maintained at a reasonably healthy level, the life expectancy can be normal. If weight and health id not managed life expectancy is limited. Before knowledge of the disorder and weight management was implemented among new cases, few people we actually known over the age of 40 with PWS. This is because high blood pressure and diabetes are known to be the major health complications of older people with Prader-Willi syndrome, along with; obesity, osteoporosis, restrictive lung disease, oedema (accumulation of serous fluid in tissue spaces or a body cavity ) and cellulitis (inflammation of cellular tissue).

Diagnosis of Prader-Willi syndrome

It would appear that diagnosis of the condition is increasing; however this may well be due to increased awareness. Most paediatricians are reluctant to diagnose a child at an early age, however from a health and dietary perspective, an early diagnosis is essential. Early diagnosis also allows for parents to be fully aware of the condition and of the best methods to manage it.

The importance of early diagnosis cannot be emphasised enough. Difficulty in obtaining a firm diagnosis affects the access to support services thus making it harder to convince other professionals that there is a problem.

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