Friday, 13 August 2010

Prader-Willi Syndrome (PWS)

Prader-Willi? What's that, I hear some of you ask. In fact, I'll be surprised if many of you know what it is and even fewer will have met someone with this diagnosis. Prader-Willi Syndrome is quite rare, indeed estimates are usually around 1 in 125,000. However, Small Talk Speech and Language Therapy know 3 young boys who have the condition.  Each one of the three is very different but all have delayed receptive and expressive language and two have delayed phonological processes.
Prader-Willi Syndrome (PWS) affects both girls and boys and is present in all races. It is characterised by extreme floppiness at birth caused by low muscle tone. This weakness is usually so severe that tube-feeding is necessary at birth, and up to several weeks afterwards, in many cases. Poor sucking ability and a need to sleep more than typical babies mean they often show little interest in food, and there is a subsequent failure to thrive in the early months of life, which can sometimes continue to the toddler stage and beyond.  This must be very stressful for the parents, it's bad enough for first time mums and dads anyway without the added pressures of trying to get their baby to feed. 

After toddler hood they tend to enter a second phase with different characteristics. At this point their interest in food and appetite increases, and over-eating may result. This, combined with the poor muscle tone, can cause severe and life-threatening obesity unless its carefully managed. This seems to be true for all children with PWS and I can't find any record of exceptions to this. Individual needs vary from person to person with regard to energy intake, and calculations regarding daily calorie levels need to be made with a dietitian. 

If you think of all the opportunities and free availability of food these days, this must be a nightmare to manage. Parents often report that this is the worst problem because the child will do almost anything to get hold of food. To have to constantly refuse food to a child who is desperate to have it must be awful. One of the parents we know is excellent at looking for and identifying potentially difficult situations to avoid e.g. her son starts school in September and will have to walk past 50 lunch boxes on his way out of the classroom! I hadn't thought of that and neither had school. Another worrying feature is that they will then cram food into their mouths to get as much in as possible and any subsequent choking may be silent because of the poor muscle tone. Sometimes, especially if they have a learning disability, they will seek non-food items, like John I worked with in the 1990s who loved to find and eat soap (thank goodness for pump action dispensers now!).

There is a possibility of varying degrees of learning disability and immature emotional and social abilities which may become apparent.

I've written about it today because its yet another condition which affects spoken language ability and the parents have a huge additional demand to cope. At the end of week 3 of the summer holidays and we're fed up of our children? Think about how much harder it would be if they had PWS... bet you're counting your blessings now!!

I've found a lovely blog about a little boy with PWS from his parents point of view.
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