Understanding the Syndrome - Understanding the Person

 

By Linda Thornton, National Director PWSA (NZ)

Cause of deletion - typical PWS behaviours - hypothalamus and what part it plays - "starvation syndrome" - major behaviour challenges - right diet, right exercise

There are times when it is difficult to understand the person behind the syndrome because of all the complications that the syndrome brings to bear. It is confusing to try to separate the two because they seem so inextricably linked. But I think that it helps to try to recognise the person locked in behind those three little words, "Prader Willi Syndrome" and understand what effects the syndrome has on what would otherwise have been another child in the family.

I have often talked to parents and caregivers whose frustration levels with the person (with PWS) have become extreme, and really close to dislike. This is when it is so important to remember that it is the syndrome that is doing its worst, not the child or adult behind it. You can hate the syndrome, but not the person; it is not their fault, they were born with this set of circumstances and the best we can do for that person, is to try to understand them.

On the face of it, the characteristics seem brutal. "Obesity" "extreme behavioural challenges" are two of the worst, but it is the syndrome that causes the person to act this way and although we, as parents and caregivers, have to bear the brunt of this, the more we can understand the reasons why, the better we can help, support, and cope with the syndrome day by day.

The following overview comes from my 25 years of living with my daughter who has PWS. She has taught me everything I know; most of it good, some of it extremely bad and sad. But through all of the extreme times, I know that it is the syndrome that has taken over and that if she had the choice, she would certainly have chosen a different life.

Understanding the Syndrome

Overview

We know that PWS is a complicated, challenging syndrome which can be difficult to understand. It requires patience, skill, caring, and an understanding of the individual as well as the syndrome. It is an organic syndrome caused by a small piece of missing genetic material.

Statistically, there are 1:15,000-25,000 people who have PWS. This statistic varies, but if I go from what I know in New Zealand, it would be closer to a recent study in the UK of 1:22,000 which gives us a PWS population of about 190. We know that PWS affects boys and girls equally, and all races.

We also know that PWS was "discovered" in 1957 by doctors Prader, Willi, and Labhart, in Switzerland. It was not written up in English until 1967. However, there are portraits of a Spanish child princess "La Infanta" painted in the 1800s who would appear to quite obviously have the syndrome. Due to failure to thrive as an infant, most children born would not have survived back then, let alone been diagnosed with the condition we now know as PWS.

What causes the deletion?

To put it simply, the developing embryo did not pcik up genetic material in utero. There are three different diagnoses caused by this small genetic deletion, and these can be picked up through DNA analysis: deletion (caused by a failure to pick up a piece of genetic material from its father); uniparental disomy (caused by the embryo picking up two copies from the mother, instead of one from the father); and imprinting (a rare form where the deletion is inherited). Read more about this.

Physically, the missing genetic material causes:

  • Extreme hypotonia - a low muscle tone, and, at birth, a failure to thrive
  • Micro-genetalia (more noticeably in boys, but also present in girls)
  • Short stature with physical and sexual immaturity
  • Small hands and feet, almond-shaped eyes, downturned mouth
  • Weight gain, voracious appetite, and no vomiting reflex
  • Behavioural challenge

However, with growth hormone treatment, which is available in some countries, many of these features will not be noticeable, and the child's muscle tone will improve greatly. To read more on GHT

What's typically PWS behaviour?

Specifically, behaviours caused by the syndrome, will be:

  • Food-seeking and/or stealing
  • Challenging behaviours (usually around food)
  • Perseveration (repeating the same question over and over again)
  • Skin-picking
  • Stubbornness, resistance to change
  • Argumentativeness
  • Aggression
  • Lying and blame-shifting
  • Compulsive or repetitive behaviours
  • Attention-seeking behaviours
  • Learning difficulties
  • Emotional swings
  • Egocentricity (the world centres on them)

In the older person, and more seriously, the syndrome can include mood disorders such as psychotic illnesses (research shows that this is more common in those with the maternal disomy diagnosis (UPD), but other non-psychotic depressive illnesses may occur in all deletions. This is where medical intervention plays a part in helping alleviate mood swings. Psychotic illness is influenced by delusions or hallucinations; there may be some danger to others or the person may endanger themselves (suicidal, self injury, homicidal behaviour, fire-setting), or shows an inability to care for self (staying in bed, urinating, or soiling the bed) shows confusion and requires constant care.

However, it must be remembered that this does not happen to everyone with PWS, nor does one person show all these characteristics. But it is necessary to know that in some cases, some serious behaviours that are completely out of character, may appear. Read more on this

The Hypothalamus and what part it plays in PWS

The hypothalamus is a small gland in the brain which, in PWS, is damaged. (People who have had traumatic brain-injury may display similar characteristics to PWS, with mood-swings, inability to concentrate, elevated anxiety, and an increased interest in food.) The function of the hypothalamus in the "normal" population is to regulate the following:

  • Appetite
  • Sensitivity to pain
  • Temperature control
  • Day/night cycle
  • Emotions
  • Memory capability
  • Breathing

Where it is damaged in the PWS population, it causes problems with all of the above. It is important to understand that due to the disturbance on the 15th chromosome, and the damage to the hypothalamus, that this is what causes all the problems the arise in PWS. It is not because the person is bad, naughty, disobedient, or a criminal.

Think "Starvation Syndrome"

Professor Tony Holland described PWS as a ‘starvation syndrome', and this is a helpful way to look at the eating disorder: because of the dysfunctional hypothalamus, the brain keeps telling the stomach "you're starving - you will die unless you get food - you must go and seek food. Now!

The major behavioural challenge

This will always be around food and food-seeking which, as we now know, is an inability to control the appetite because of the damaged hypothalamus.

  • You and I have a choice around food.
  • People with PWS do not have this choice.
  • The damaged hypothalamus does not allow a choice.

Therefore:

  • It is our responsibility to manage all issues around food.
  • If we don't do this, it is tantamount to abuse and neglect.
  • Because the person can not make the right choices around food, it is our job to do it for them in a way that respects their unique lifestyle.

Right Diet - Right Exercise

The correct calorific amount is important - an extra 50 calories a day will give an increase of 2kg per year (for example: 1 slice of bread = 88 cals, and for those of us who enjoy a glass of wine, 1 glass of wine = 77+ cals)

Energy in (food eaten) must be balanced by energy out (exercise). It's a very simple equation.

Because people with PWS have a lower muscle tone and a greater percentage of fat ratio, they have a lesser ability to burn off calories. Therefore, they need a lower calorie intake. Read more about diet.

Now that we've looked at the actual syndrome and how it impacts on a person with PWS, let's look at "Understanding the Person"and how their behaviour impacts on us.