Prader-Willi Lecture



Prader-Willi Lecture

SEGMENT 1 – What is Prader-Willi Syndrome (PWS)

(Slide 1) Prader-Willi Syndrome Across the Life Span

My name is Barb Dorn.  I’m here today to talk to you about Prader-Willi Syndrome across the life span.

Prader-Willi Syndrome is about people. 

(Slide 2) Prader-Willi Syndrome is About People

I always like to qualify things before I start talking about a disability, and in particular, Prader-Willi Syndrome because we tend to get so caught up in the characteristics, in the history, in the symptoms, in the behavior, that we forget that what we are talking about here is about people.

(Slide 3) Prader-Willi Syndrome

Prader-Willi Syndrome was first described in 1956 by 3 doctors; Dr. Prader, Dr. Labhart and Dr. Willi.  It is believed to have been around for many, many centuries.

It’s a very unique, very complex developmental disability.  It is caused by an abnormality on the 15th chromosome.  In result, the hypothalamus does not work properly. 

(Slide 4) Outstanding Characteristics

Some of the outstanding characteristics that you will see are: learning problems - about 88% have some degree of cognitive limitation; behavior problems - probably the 2 most outstanding behaviors you will see are an obsessive compulsive rigidity and a tenuous emotional control.  They can escalate very quickly both in happy times as well as in sad times.

The most outstanding characteristic that you’re going to hear about when you talk to anyone or see anyone with Prader-Willi Syndrome is the insatiable appetite.  The message of fullness never reaches the brain so when they eat, that message never gets translated up to the hypothalamus.  They are always hungry.

SEGMENT 2 – Prevalence, Stages, and Characteristics

(Slide 5) Prevalence

Prader-Willi Syndrome affects approximately 1 in 10,000 to 15,000 live births.  It occurs equally in both males and females, and it is seen in persons of all races.  We have people with Prader-Willi Syndrome living in countries all across our world.  It is the most frequently occurring genetic cause of obesity, and it is the most common genetic cause of newborn hypotonia.

Slide 6) Stages

Next we’ll be talking about the stages of Prader-Willi Syndrome.  There are 2 stages that you will see.

The first is failure to thrive, and later is thriving too well.  Infants born with Prader-Willi Syndrome have extreme weak muscle tone.  They’re often referred to as a floppy baby.  They also have a very poor suck.  This results in feeding difficulties requiring special feeding tubes and/or special bottles and techniques.

They also have excessive sleepiness.  It is not uncommon for an infant with Prader-Willi Syndrome to sleep in excess of 23 hours a day.  That 1 hour that they maybe awake maybe divided at short intervals throughout the day.  They also have poor growth and development, and frequently have many developmental delays.

Around the age of 2, you’ll start to see a change in the infant.  That is when they start going into what we call thriving too well.  You may start to see more food preoccupation which then can later to advance to food seeking, and again advancing to food stealing.

I recall when my son was born and he went into this phase, he couldn’t walk, he couldn’t talk, and he would hold his finger up to his mouth and say “Nam-nam.  Nam-nam.”  That’s when he wanted food.  Well, during the early years, we didn’t know what was wrong with our son.  And at that point in time, we thought, “Well, something wasn’t working, and now it is working.”  But it’s that change over that was a signal that this very well could be Prader-Willi Syndrome.  Then, came the weight gain.  Between 18 months and 2 years, our son went from the 7th percentile to the 75th percentile in his weight gain.

They also can start to have behavior concerns.  During ages 2 and 3, they can be - start to come more –

I have to say that over again.  Okay.

During ages 2 and 3, they may start to become more rigid, and they may start to exhibit more temper tantrums.  Well, at age 2 and 3, this isn’t an unusual occurrence.  However, they may continue this sort of behaviors well until their adult years.  So, your approach to temper tantrums is often different when you know you are facing a life-long problem.

They also have speech and language problems.  This can be a result of the poor muscle tone and the oral/facial muscles as well as a processing problem.

As they get on into school years, they are faced with learning challenges and also have social skill deficits.

(Slide 7) Physical Characteristics

Some of the physical characteristics that you may notice is that hypotonia, the poor muscle tone.  It is more pronounced in the trunk area than in other areas.

They have altered nutritional needs.  Recall, I said they initially had feeding difficulties, and later, they transformed into problems with weight gain, food obsession and food seeking.

They also have hypogonadism.  They can have underdeveloped genitalia, which can be detected in our infant little girls, and undescended testicles in our boys.  They’ll have short stature, small hands and small feet.  And they’ll also have almond-shaped eyes.

(Slide 8) Hypotonia – Poor Muscle Tone

In this picture, you can clearly see some of the effects of the poor muscle tone in this little guy with Prader-Willi Syndrome.  As you can see, the trunk area has the most pronounced area of the hypotonia.

SEGMENT 3 – Genetic and Diagnostic Testing

(Slide 9) Genetics and Diagnostic Testing

Next, we’re going to be talking a little about genetics and diagnostic testing.

There are some clinical criteria that can be used by clinicians in order to assist in diagnosing a person with Prader-Willi Syndrome.  In the early years, this was the primary way that children and adults were diagnosed with Prader-Willi Syndrome.  There is a list of numerous symptoms that are assigned a number, and they can total up the points.  That was the early years.

Today, that clinical criteria is used only to assist the clinician in determining whether or not further genetic definitive testing is indicated.  We have made so many advances in the areas of genetics making it possible to diagnose close to 100% of persons with Prader-Willi Syndrome.

(Slide 10) Genetic Forms of Prader-Willi Syndrome

Prader-Willi Syndrome results from changes that occur on the pair of genes in a critical area on chromosome 15.

You’ll also notice here in this picture that there is that little area, and it’s noted as q11-q13.  And this is the critical area of Prader-Willi Syndrome.  So, every case of Prader-Willi Syndrome is a result of a baby failing to receive or not having active genes from that specific section of chromosome 15 contributed by the father.

(Slide 11) Genetic Forms of Prader-Willi Syndrome

There are 3 forms of Prader-Willi Syndrome.  The first one I’m going to talk about briefly is called paternal deletion.  This is the most common cause of Prader-Willi Syndrome.  It affects approximately 70% of cases.  So, the part of chromosome 15 inherited by the child’s father has a piece in that critical gene area that is missing or that is broke.

The next form of Prader-Willi Syndrome is called maternal uniparental disomy, also referred to as UPD.  This occurs in approximately 25% of cases.  In this case, the baby inherits both copies of chromosome 15 from one parent, the mother. 

(Slide 12) Genetic Forms of Prader-Willi Syndrome

The third type of genetic cause of Prader-Willi Syndrome is called an imprinting defect.  This is a very rare situation.  It only occurs in approximately 2% of cases.  The activity of genes is controlled by a tiny imprinting center on chromosome 15.  So, that critical area, the genes are present but they don’t work.  This can occur suddenly or it can be passed down by the mother to the father of a child with Prader-Willi Syndrome. 

So, the grandmother of the child with Prader-Willi Syndrome could be a carrier passing it down to her son.  There is a 50% chance of having a child with Prader-Willi Syndrome if you have this defect.  Father’s siblings may also carry this defect. 

Siblings of the person with Prader-Willi Syndrome not born with this may be a carrier, and genetic counseling is strongly advised.

In this picture, you will see a rare family here.  They’re all siblings, all born with Prader-Willi Syndrome.  So, there are 3 children in this family all born with this disorder.  I’ve been working with families and people with Prader-Willi Syndrome for over 15 years, and I’ve only come across 2 families personally where this has occurred.  So, it is a very rare situation.

(Slide 13) Genetic Forms of Prader-Willi Syndrome

In this picture, you will see kind of a summary of the 3 ways that you can see Prader-Willi Syndrome.  In the top photo, you’ll see the mother and the father, and you’ll see in the father chromosome that critical region that impacts and could cause Prader-Willi Syndrome.  In the deletion below in figure A, you will see that there can be a piece missing or broken in that critical area.  In diagram B, you will see instead of getting a chromosome from the mother and 1 from the father, the child has received 2 from the mother.  And in diagram C, you will see that there is no piece missing, that there is a mother and a father.  However, the area, that critical region is not working properly.

SEGMENT 4 - Hypothalamus

(Slide 14) The Hypothalamus Its Influence on Prader-Willi Syndrome

Next, we’re going to be talking about the hypothalamus and its influence on Prader-Willi Syndrome. 

(Slide 15) Altered Functions in Hypothalamus in Persons with PWS

The hypothalamus is the primary organ impacted in this disorder.  The hypothalamus affects the functioning of our hormones.  The most outstanding is growth hormone and our reproductive hormones.

The hypothalamus also is responsible for our appetite control center.  And in Prader-Willi Syndrome, there can be an altered regulation of the autonomic nervous system.  And we see this most outstanding in our temperature control mechanism, in our fluid balance, and also in our sleep-wake cycle.

Our hypothalamus also has control over short-term memory.  So, you also see a defect in poor auditory short-term memory.

(Slide 16) Altered Functions in Hypothalamus in Persons with PWS

First, we’re going to start off by talking about growth hormone.  In Prader-Willi Syndrome, we see a decrease in growth hormone.  This accounts for their short stature, their poor muscle tone, their low metabolism, and their low bone density.  Growth hormone also helps us regulate our blood lipids.  So, because of this abnormality, they are at an increased risk of developing cardiovascular disease.

This has been one of our biggest breakthroughs in the quality of life for persons with Prader-Willi Syndrome.  Right now, we have many infants, children and adults being put on growth hormone therapy.  Not only will they have a taller stature, but it will be addressing many of the characteristics and problems that they face in this disorder.

(Slide 17) Altered Functions in Hypothalamus in Persons with PWS

They also have a disruption in the appetite control center.  Our hypothalamus houses this control center.  As I have said earlier, the feeling of fullness never reaches their brain.  This may be mild to severe as far as the food drive goes.  I see people who may be very severely cognitively disabled; unable to read, unable to tie their shoes.  However, they are able to get the hinges off of doors, get keys from around the necks of their parents, and can unlock access to food with no problem.  It is important to have environmental supports to prevent access to food.  This can be life-saving.

There also is an abnormal emotional expression.  The hypothalamus helps us in our expression of anger and rage.  People with Prader-Willi Syndrome, they may have extreme fluctuations in this area.

(Slide 18) Altered Functions in Hypothalamus in Persons with PWS

There is also altered reproductive hormones.  So, few produce normal or even near normal levels of reproductive hormones.  They may start puberty but not completed.  Women may menstruate or may not menstruate at all.  Some have normal menses.  Some may have it once a year.  There’s a lot of variability based on the ability of the hypothalamus in producing these hormones.  Men may start to have voice changes but do not complete.  It’s not uncommon to hear boys with very high voices, and they may be 40 years old.  They often have the early onset of growth of pubic hair and underarm hair.

I recall my son was 8 years old when he started to have growth of pubic hair.  I recall calling the geneticist, very upset, because my son may have been 8 years old according to the calendar, however, he was functioning like a 5-year-old.  And to start to see this sort of changes was quite upsetting.  I remember calling and saying, “I want him to stop right away.  He is just not going to be able to handle it.”  Fortunately, it didn’t progress beyond the growth of hair, so we weren’t seeing some of the other changes.

Hormone replacement therapy is used in some.  For women, estrogen replacement may begin at around the age of 12 or 13.  In males, they may also start the administration of testosterone.  However, sometimes the side effects of testosterone, the increase in aggression can often manifest and increase the behavior problems that we may see it in our young adults with Prader-Willi Syndrome.

There have been few very rare cases were women with Prader-Willi Syndrome have conceived and given birth to a child.  For many years, we always thought our children were sterile.  And in probably the 50 years that we have known about Prader-Willi Syndrome, there have been about 5 or 6 documented cases where women have had children that have had – the children have resulted in having what’s called Angelman Syndrome.  So, they haven’t produced normal children.  So, it’s not without genetic implications as well.  We do not have any documented cases where a man has conceived offspring – we have no documented cases where a man has conceived offspring.  However, this is difficult to prove since a man doesn’t have the child.

(Slide 19) Altered Functions in Hypothalamus in Persons with PWS

There is also altered regulation of the autonomic nervous system.  The temperature regulation, our thermostat is housed in the hypothalamus.  Our body temperatures – in persons with Prader-Willi Syndrome, can elevate very quickly.  We may not see a fever when there is a severe infection.  We also have reports of very low body temperatures.

Our water balance is also regulated in the hypothalamus.  So, we often times see really thick sticky saliva.  I think that’s probably one of the most outstanding ways that you can see this difficulty in water balance.  So, instead of having a normal, watery-thin saliva, we tend to see this problem which often manifests itself as a white rim that goes around the person’s mouth.

Sleep patterns can also be affected.  Research has documented abnormal sleep patterns.  Many of them do not sleep well at night.  I frequently get calls from parents saying, “My child is awake at 3:00 AM.  They just won’t go back to sleep.”  As I tell them, there is not much we can do to force a person to go back to sleep no matter how much we may want that to happen.  What I do tell them is, “Make sure your food is locked and that they are safe in your home.”  Second, is to maybe develop some rules or guidelines that they must stay in their room, and maybe they can have a television.  Have things available for them that they can do rather than focusing what they can’t do.  And, if they start to feel tired again, that they should try going back to sleep.

SEGMENT 5 – Impact of Diagnosis for Person and Family

(Slide 20) The Impact of the Diagnosis and Disability on the Family and Person with Prader-Willi Syndrome

There are varying impacts on the diagnosis and the disability, on the family and the person with Prader-Willi Syndrome.

First, I’m going to talk a little bit about the impact on the family.  We’re going to start with the parents. 

(Slide 21) Impact on Parents

When parents have a child with Prader-Willi Syndrome, it is no different than having a child with any other disorder.  There is grief.  There is the loss of the normal child.  And often times, the picture that gets painted of this beautiful somewhat helpless little baby turning into someone who will have extreme anger food seeking issues is just so difficult to comprehend.  There is such fear and worry about their future.  What sort of life are they going to have - about the parents’ lack of knowledge?

Prader-Willi Syndrome is not like Down Syndrome where people at least have heard about it.

I’m also a Registered Nurse.  I’ve gone through training in a diploma program, in a Baccalaureate Program, and when my son was born with Prader-Willi Syndrome, I have never heard of this disorder.

Nowadays, we have increased awareness and we have a greater understanding.  However, many parents are fearful because they’ve never heard of it, and they don’t know about the details of it, let alone, how to manage all these varying aspects.

Then there is the balancing that must be done in the needs of the child, in the needs of the family, and in the needs of a marriage.  You do have a greater appreciation however for achieving small goals, celebrating successes and accomplishments.  Nothing goes overlooked as far as what accomplishments our children and our adults make in their life.

You can see here a picture of a mother along with her daughter.

(Slide 22) Impact on Parents

You do learn how to be a different parent, and you grow to love your child just as much as you would any of your children.  You do, however, need to change most aspects of life.  Your parenting style needs to change.

First of all, for our little ones, most parents are not equipped or prepared psychologically or educationally to have to do tube feedings on an infant.  I know, for me it wasn’t as great of a challenge because I’m a nurse.  But my husband, I tease him to this day that he could become a nursing assistant very quickly, and maybe even a nurse after all the experiences in the medical field that he has learned in raising our child with Prader-Willi.

We also have to plan everything.  We had to basically take the word spontaneous out of our vocabulary in raising a child with Prader-Willi.  They need a predictable life, and throwing them curve balls with changes was not just a good approach.  And, if and when it did happen, there are usually behavior manifestations that resulted which then could upset the whole family.  All our trips, all of our outings had to focus on:  How do this impact food?  Did this delay a meal?  Did we bring our meal with us?  Did we bring our snacks?  Are we going out for dinner?  Where are we going out for dinner?  What do we plan for if there is going to be food there?

Food impacts every aspect of our life.  You may not realize that until you have a child that has to be on a very low-calorie diet and who can have irrational behavior thoughts and ideas when it comes to this.

Families are also impacted in economics.  Just a simple grocery bill becomes larger.  If you go to the grocery store, and you look at a can of pears that is not in heavy syrup versus the can with heavy syrup, you will find that without the high calories and sugar content, you pay more.

It also impacts many families in their ability to have a two-income household.  Parents often times run into challenges in the early years of having the behavior issues, the special food -  In the early years, parents have problems finding child care who will feel comfortable with special feeding techniques, with diet, with behavior, and the later years, schools often are calling saying they’re having problems or issues.  It makes it very challenging for 2 parents especially to work full-time.

There is also life-long parenting.  I think I’ve noticed this probably over the last 5 years.  Kind of my developmental level and approach has changed.  I’ve given up and done parenting since I was 29 years old.  And I got to a point where I started taking a look differently at life.  You go into a different phase.  Well, parents are always parents, but when you have to deal with the doctor appointments, with the team meetings, with the vocational people, life-long, it is a life-long parenting that not everyone is prepared for.

There is also a special estate planning.  Wills need to be worded such that the benefits do not impact the person with Prader-Willi Syndrome.  What happens when you die?  Who will be the guardian?  Who will watch over and make sure that the needs of this child or adult with Prader-Willi Syndrome are being met?

(Slide 23) Impact on Grandparents

There is also an impact on grandparents.  Grandparents grieve as much as the parent does.  They too experience a loss of a normal grandchild.  And it is very difficult for them to watch their own child in pain as they are going through the grief process.  Grandparents also need to change some of the ways they may spoil the grandchild.  I always approached my mother and say, “Instead of baking the chocolate chip cookies and having the special treats at your house, maybe you could become the book grandma.”  So, every time my sone would come to visit, she would have a different special book for him.  He loved to read and he loved having grandma read with him.  Grandparents may often take on a greater role in supporting their grandchild providing respite for the parents so that they too can nurture their relationship as well.

(Slide 24) Impact on Siblings

This disorder also impacts siblings.  In the early years, siblings often don’t realize that there are the differences.  They still are their playmates, their role models.  However, the siblings may mimic behaviors of the sibling with Prader-Willi Syndrome. 

You may notice that the sibling who doesn’t have Prader-Willi Syndrome often mimics the behaviors and issues of the child with Prader-Willi Syndrome.  You may see food seeking.  You may see tantrums.  I know my youngest who is about 2 years younger than my oldest, Tony, with Prader-Willi Syndrome would start to have very aggressive temper tantrums.  And my husband would say, “Well, why is he having these sorts of temper tantrums?”  Well, he was younger.  And I firmly believe that he thought this was just the normal way that you shared your frustrations and your anger.

Well then, as parents, we had to basically sit down and figure out how we were going to be parenting our son with Prader-Willi Syndrome and our son who didn’t have Prader-Willi Syndrome so that they both could have their special needs addressed.

Siblings often become jealous and envious of the attention that siblings may receive.  They too may want to be disabled.  I know my youngest, when he went into kindergarten, said to me, he wanted to have Prader-Willi Syndrome.  My heart just broke.  But when I stood back and realized that Tony was coming home from school with stickers and pencils and all sorts of things as part of either behavior management programs or as part of therapy programs; and Tyler didn’t come home with any of that.  The school that we were attending at that time came up with a great mentor program that I enrolled him in.  So he was having special time at school with a special teacher so it made it a little bit special for him as well.  So, just trying to be creative and balancing the needs of the sibling.

(Slide 25) Impact on Siblings

As the sibling grows older, they may have to make changes and sacrifices to accommodate their brother or sister with Prader-Willi Syndrome.  Many of them take on a greater role in child care.  They may become more responsible and may become more nurturing.  And that’s probably one of the good aspects of having a sibling with Prader-Willi Syndrome.  However, this can also impact the comfort level in bringing friends home.  They may be embarrassed by food being locked up.  And the unpredictable hate –

This can impact the comfort level in bringing friends home.  They may be embarrassed by locked food, and the unpredictable behavior outburst that the person with Prader-Willi Syndrome may have.

If the sibling with Prader-Willi Syndrome has outbursts at school, this may also be felt by other siblings. 

(Slide 26) Impact on Siblings

Adult siblings often take on more responsibilities as guardian and/or executor of the estate.  Siblings of all ages require special one-on-one time with parents and family.

I just want to point out that this is a picture of my boys.  The one on the left is my youngest, Tyler.  And as you can see here, we are Cub fans.  And that’s Tony on the right with the dark shirt.

So, there are many years especially when they were younger, they were best buddies.  And then when we went through the high school years, they weren’t best buddies.  There was a lot of embarrassment.  There was a lot of anger.  And now as they have become young adults, we’re starting to see that friendship rekindle.

(Slide 27) Impact on the Person with Prader-Willi Syndrome

What’s the impact of this disability on the person with Prader-Willi Syndrome?  In the early years, they don’t often realize their differences, and they just go about playing and doing things as any young child would.  They can be included in most activities, however, there’s always that life-long attention to the dietary needs that must be addressed.

(Slide 28) Impact on the Person with Prader-Willi Syndrome

They are very loving, caring youngsters who are very friendly to others; sometimes, too friendly to others.  They don’t always identify strangers.  They will frequently go up and talk to anyone in an elevator, in a hallway.

In school-aged years, social skills start to become more problematic.  They need to learn social concepts that peers may not need to learn.  What is nice is that with learning repetition, they are able to pretty much function out in the world.

Winning in fairness can often times be problematic.  And that can take years of practice before they are a little bit more accepting of that concept.

(Slide 29) Impact on the Person with Prader-Willi Syndrome

As they grow older, differences become more evident to them.  I think it was probably around the age of 10 that my son started to notice that he was different.  And we went to a period of time where he didn’t want the assistant in the classroom especially if it was made aware that that assistant was for him.  It was better accepted when that assistant was helping lots of students, and he wasn’t kind of identified as being different.

In honesty, there are many times when they are often unhappy and angry about having Prader-Willi Syndrome.  And they will tell you so.  “I don’t want Prader-Willi Syndrome.  And I don’t have it.  And don’t you tell me that I have it.”

Food and diet impacts all aspects of life, and they want to be like other people.  And especially in that area, there is a constant grieving process that goes on.  Food seeking and behavior outbursts make friendships difficult to initiate and to keep.  They often need assistance from parents and educators in having friends.

I know for us, when my son was in elementary school, we would facilitate friendship groups.  They had lunch bunches at lunch time so that he had a group of friends to eat lunch with.

The challenges became greater when he went into middle school.  Normal students in these years have difficulty with wearing glasses, having braces, sticking out, feeling different.  So, the child with Prader-Willi Syndrome knew these differences, and it really wasn’t cool.  It wasn’t a good thing to have friend who had a disability.  So, that’s kind of when we reached a fork in the road as far as having even more challenges.

Grief and loss happens in many areas.  They aren’t able to have a driver’s license.  They grieve not being able to independently date.  They may not be able to go out for sports on the high school team.  And many of them, however, are able to date but they may need you to drive them and to be of assistance.  It may be where they may not be able to participate in sporting events, however, they may be able to be successful in Special Olympics.

So, as a parent, these things are possible, however, we may need to be more aggressive at looking at ways that they can be a part of their high school and adult community.

(Slide 30) Impact on the Person with Prader-Willi Syndrome

As adults, many of them grieve the normal adult developmental milestones.  You will frequently hear that they want to be married, that they want to be parents and have children, and that they want to have independence in living and in working.

They want to have dates and a close adult relationship.  Sometimes, you’ll see this almost to an extreme degree that they become almost obsessed with getting a boyfriend or a girlfriend.  You see a strong desire in wanting to become a mother or a father.  It’s not uncommon to see many of our adult women that will take on that nurturing role with a doll, and many of our providers support and encourage that.  However, they will set limits and encourage them to – you can have the doll but keep the doll at home because out in the community, usually adults don’t have dolls.  So you want them to be able to meet that caregiving role.  However, you also don’t want them to stand out and be ridiculed in the community.

Many establish close relationships with nieces and nephews or other younger family members.  They are easily drawn to infants and to young children.  So, you can be standing there and all of a sudden you don’t know where the person with Prader-Willi went to.  And if you see a baby nearby, they may be down playing with them and saying hi, and which can sometimes be frightening to the parent of the infant.  So, you quickly have to intervene and communicate that they have some special needs and that they are just very fond of children.

SEGMENT 6 – Health Issues and Concerns

(Slide 31) Health Issues and Concerns

Next, we’re going to be talking about the health issues and concerns for persons with Prader-Willi Syndrome.  Some of them, we’ve already talked about, so I’m  just going to mention and kind of just move on.  But others, I may not have addressed yet.

(Slide 32) Health Issues and Concerns

In the early years, I had mentioned the nutrition and growth and development can be problematic.  Also, cross-eye can be problematic as a result of the poor muscle tone in the eye.  They may require patching or in some cases, surgery.

Persons with Prader-Willi Syndrome typically do not vomit.  In cases where vomiting occurs, there may be a significant serious health issue taking place.  In the early years, this can be problematic in respect to poisoning.  So, if an infant or child with Prader-Willi eats a plant that is poisonous, and you take them to an emergency room, you may have problems when the medication they give to induce vomiting doesn’t work.  So, in most cases, they do have to have their stomach pumped.  In the latter years, vomiting may indicate that gastric illness that I had talked to you about earlier.

(Slide 33) Health Issues and Concerns

I also had mentioned to you that high pain threshold.  The sensation of pain is not felt.  So, all injuries are suspected illnesses; need to be evaluated.

Scoliosis can be problematic, really, from birth on.  So, this is something that needs to be monitored.  X-rays may be needed.  And in many cases, braces are used to try to prevent the curvature from getting to the point where they might need to do surgical intervention.

There are body temperature abnormalities both very high and very low.  And remember, fever may or may not be present in cases of illness.

(Slide 34) Health Issues and Concerns

Respiratory problems.  I think we’re learning more and more in this area as well.  We are seeing an increased incidence of sleep apnea in all ages.  If obese, the number 1 treatment would be weight loss.  However, we are seeing sleep problems and apnea in those whose weights are under control.  And then a different type of therapy is used, and it’s called CPAP, standing for Continuous Positive Airway Pressure.  And it can be a device that either goes over the nose, or goes over the nose and the mouth that pushes air in to push open the back of the throat so that air can go in and out while they’re sleeping, and that their blood oxygen levels do not decrease.

It takes a little bit to get the person with Prader-Willi acclimated and accepting of it, but it does really improve their quality of life.  We often see less daytime sleepiness when we can get the sleep apnea under control.

They also have poor muscle tone, and as you recall, I said the area of the trunk is probably the area of greatest weakness.  So, when they get a cold or upper respiratory infection, they are at higher risk of developing pneumonia, and then can end up requiring antibiotics and/or hospitalizations.

Now, because of this high incidence of sleep apnea, we see that all infants and many children must have a sleep study prior to the start of growth hormone therapy.  And this is being done because of – there have been some deaths that have occurred while people were on growth hormone.  And there is a question whether or not the growth hormone enlarged some tissues that contributed to obstructive apnea.  However, there has been more recent research showing that the incidence of children and young adults dying of respiratory problems is about the same in those that are on growth hormone as those that are not on growth hormone.  So, respiratory problems can be a big concern - life-long.

(Slide 35) Health Issues and Concerns

These individuals have increased sensitivity to medications; especially medications that can cause sedation.  So, those include many medications used to manage behavior, or if they go in for surgery, pain medications can also be a part of that, and general anesthesia.  Many of our children and adults that require surgery and have general anesthesia need closer monitoring afterwards because the affects of the anesthesia take a lot longer to get out of their system.

They may be at increased risk of injury due to poor muscle tone.  So, they can fall easier.  They aren’t well coordinated.

We also see increased bruising.  We are not sure at this point why we are seeing this increase in bruising.  Most of the blood tests that are done, just basic test to check for bruising are within normal range, but there have been some isolated cases of people who have different factors which are kind of subtypes of parts of our blood that help us with clotting that are abnormal.  So, it may be an area where we learn more about the causes of bruising in the near future.

Many have fair coloring.  So they are at risk of sun burning.

(Slide 36) Health Issues and Concerns

And then probably one of the most problematic areas is the area of skin-picking.  People with Prader-Willi Syndrome - it’s very common.  It’s even one of the items mentioned in the diagnostic criteria - frequently will pick open areas on their skin.  It may be where they start off or they might be a small little blemish that they’ll pick at.  It may be where it’s a mosquito bite.  It may be their fingernails, and in some cases, it’s just an area that they picked, that they just start scratching.

And because they have that abnormal pain threshold, they don’t feel the pain that you and I do, and it becomes more of a compulsive behavior.  Because of this sores, and they can often times be circular in nature that resemble kind of a cigarette burn, many parents and caregivers may be evaluated for child abuse.  And so, it can be quite problematic.

You will see in this slide a young woman whose legs, you see here, have multiple open wounds, and it maybe difficult to see, but she also has some on her arms.  So, it’s very frequently scattered throughout the body.  In this case, you’ll also see that there are areas that are red and round, those lesions, and that’s because she has developed an infection.  So, that can also be problematic in that they develop what’s called cellulitis and infection of the skin.

These individuals also have dental problems.  They can have poor enamel.  They can have cavities, and they can also have teeth grinding.  And as you recall earlier, I mentioned how they have that thick sticky saliva.  That puts them at risk of developing cavities.  They also – the poor enamel can be a result of what’s called rumination.  That’s where these people will burp and bring the gastric contents back up into the mouth, and that high acidity does erode part of the enamel, and then they swallow it again.  For many of them, it’s a chance for them to have a meal more than one time, to enjoy some food.  And I know how terrible that sounds, but this is an extreme situation.  So, it’s very important for these people to have good oral care and dental checkups as well.

We did talk earlier about osteoporosis and this, once again, can be a life-long problem.

(Slide 37) Health Issues and Concerns

I also mentioned earlier about the severe gastric illness.  Some of the main symptoms, since they don’t really have the pain that happens, is that they complain of just not feeling well.  You might see abdominal distention, vomiting and they may or may not have complaints of abdominal pain.  One of the common findings that we are seeing in these situations is that they’ve had a recent binge episode.

So, I feel it’s very important to educate people with Prader-Willi, and tell them that if they have a binge episode, that they must tell an adult so that we can be watching them closer.  And it is important that if this occurs, that they not be punished.  It is up to us to take a look at the environment, see what situation caused them to be able to binge and to make that correction in the future.  But we must be teaching them about this disorder and hoping that we catch it earlier before it becomes a lethal situation.

The complications of obesity, they are still problematic.  Today, we are seeing more persons with Prader-Willi Syndrome whose weight are under control.  But however, this is still a problem in many people.  The complications of obesity include diabetes which impacts almost every organ in our body.  We can have heart complications, most notably, they can develop right-sided heart failure and they can also develop respiratory compromise.

(Slide 38) Health Issues and Concerns

We recommend strongly that all people who support persons with Prader-Willi Syndrome; be it family members, be it parents, caregivers to carry a medical brochure with them or a medical alert booklet with them at all times because we are still attempting to educate physicians on this disorder.  And often times, we need to prove to the emergency room physician or to an urgent care physician that the problems that we are advocating they evaluate really do exist.

If there is a health care professional who is not proficient at Prader-Willi Syndrome and they desire to talk to another specialist, you can refer them to the PWSA (USA) website or to their toll-free number, and they will help to facilitate connecting them to another physician with that specialty.

SEGMENT 7 – Resources for Families and Professionals

(Slide 39) Resources for Families and Professionals

We continue to provide more and more resources for families and professionals.  When I became involved in the organization approximately 15 years ago when my son was 6 years old, there was very little out there for family members, for other professionals to learn about Prader-Willi Syndrome.  And now, we have numerous publications, we have videos, we have DVDs, we have the website that you can download all sorts of information.  So, we have more available for families and professionals.

(Slide 40) Resources for Families and Professionals

Locally, we have state organization that provides support, education and advocacy for people with Prader-Willi Syndrome as well as those who support them.  Many states have a local chapter, and if you go to the PWSA (USA) website and look under the area of support, you can click on the state and it will give you the contact information for your area.

We, here in Wisconsin, have a toll-free number.  We have publications.  We have newsletters.  We provide social events, trainings, consultation, advocacy and support.  Our goal is to provide support and education for all persons with Prader-Willi Syndrome.

Nationally is the Prader-Willi Syndrome Association USA.  They too have their website.  They have probably more in the area of research.  That is one area locally, that we do not have physicians that we work with directly.  Instead, we do give a small donation to our national organization on an annual basis to support research.  They do have a toll-free number.  They have publications and a newsletter.  They have parent mentoring programs for parents of newly diagnosed children with Prader-Willi Syndrome.  They have crisis support for people who either experienced behavior school or health crisis.  And like I said, they also assist with connecting professionals.

(Slide 41) Resources for Families and Professionals

There is also a foundation nationally called the Foundation for Prader-Willi Syndrome Research.  This organization targets specifically research in this area.

(Slide 42) Resources for Families and Professionals

Internationally, we have an organization called the International Prader-Willi Syndrome Organization.  They are recruiting and developing organizations in countries around the world.  They provide information and startup support so that we can help people with this disability nationally and internationally.

SEGMENT 8 – Research Perspectives

(Slide 43) Hope for the Future

In final, there’s hope for the future. 

(Slide 44) Hope for the Future

Today, there are more research studies going on Prader-Willi Syndrome than ever before.

There is an increased focus on obesity research nationwide which is helping persons with Prader-Willi Syndrome.  We have an improved quality of life for those living with this disability because of a greater understanding of what their problems and issues are.  We are better able to design programs that best meet their needs.

There is hormone replacement therapy now that is changing the growth and development of our youth, and also helping those in our aging population.  We do have a continued need for more information as our adults with Prader-Willi Syndrome age.

However, there is hope for today.  Hopefully, a cure especially in the area of food seeking, that maybe, possibly, we can find some sort of treatment approach so that we can get that appetite control center to function more properly, and so that we can possibly have a cure for tomorrow.

SEGMENT 9 – Stories

(Slide 45) The Larson’s – A Special Family

As you recall, when I started off my presentation today, I talked about how Prader-Willi Syndrome is about people.

Now, I’d just like to take a few minutes to highlight a very special family called the Larson Family.  The Larsons are a family of 4.  Both of their children have Prader-Willi Syndrome.  They do not have an imprinting defect.  Their oldest child, Alex, is their biological child; and their youngest child, Matthew, was adopted.  So, I wanted to just highlight how special this family is in having 2 brothers that both have Prader-Willi Syndrome.

(Slide 46) Alex and Matthew – Special Brothers

Matthew and Alex both have Prader-Willi Syndrome by means of a deletion.  So, even though they have the same type of Prader-Willi Syndrome, they are both very unique individuals, and are demonstrating some rather different time frames and different challenges in respect to their disability.

Let me just start off briefly by highlighting a little bit about Alex.  Alex was born at 6 weeks prematurity.  He was diagnosed with Prader-Willi Syndrome when he was 7 weeks old.  He had feeding difficulties and was fed with a nasal gastric tube, a tiny tube placed in his nose and down into his stomach.  In addition, he was also fed with a special bottle to help him learn how to feed.  He started growth hormone at around the age of 4.  And now, he is 14 years old, and he is approximately 5’5” and his weight is under control.  Alex is a little more sedentary.  A little bit more low-key.  Behaviors haven’t been quite as much of an issue. 

His food drive did start to increase over the last, about, a year-and-a-half.  He does suffer from some learning disabilities which really have presented itself a little bit more pronounced since he has been in middle school.

Matthew, on the other hand, was a full-term baby.  He was diagnosed with Prader-Willi Syndrome when he was 5 days old.  He too had feeding difficulties, but he had a tube placed directly into his stomach, called a gastric tube, and had feedings up until, I believe, he was about a year-and-a-half old.  He started growth hormone at age 9 months.  He is a very active little guy.  And I met him when he – shortly after he was adopted, and he had that sparkle in his eye from that point already.  And you could tell he was going to be a challenge to his parents.  And, he is.  He is one that will push the buttons.  He is one that will challenge things.

And so, the parents have 2 very different children in respect to their behaviors.

Matthew is also demonstrating a few more autistic-like behaviors which we also do see in a low number of persons with Prader-Willi Syndrome.  But, there are people with Prader-Willi Syndrome who are also diagnosed with autism.

Matthew has had more speech and language problems than Alex did.  Both have had them, but Matthew has still a fair challenge in his articulation and in understanding him a little bit.  He has a cognitive disability.  So, even though both boys have the same type of deletions, they do have different degrees in their food seeking, they have different degrees in their behaviors, and different impact as far as speech and language.

The Larson family has their home basically under lock and key, and not so much for Alex but for Matthew because Matthew at age 6 has a very strong food drive and had been very curious at a very young age.  But, I can tell you, that this is a very loving caring happy family and they are adjusting well living a structured life and it has just become one big happy family.

So, I just wanted to highlight to you a kind of a family, a little special family because you don’t run into 2 children with Prader-Willi Syndrome very often.

There we are.

Okay.  Thank you.

Supplemental Segment– Life Long Continuum of Challenges for People with PWS

(Slide S1) A Life Long Continuum: Challenges for Children and Adults with Prader-Willi Syndrome

There is a life-long continuum of challenges that these children and adults with Prader-Willi Syndrome face.

I’m going to start with the infant and the young child.

(Slide S2) A Life Long Continuum of Challenges for Children and Adults with PWS

First, we’ll talk about nutrition and health needs.  As I had mentioned earlier, those early years, there are feeding difficulties and poor weight gain.  Those first few years, the challenge was always finding a way to get your child to eat; a way to get nutrition into them.  So if you gave them a cracker, it was never a plain cracker.  It might be a cracker that you had taken peanut butter added a little bit of milk to, watered it down, but you’re trying to get protein and calories into them so that they would gain weight.  They’re constantly weighing.

This little guy here has a feeding tube that maybe you’ll be able to see located right into his stomach.  He was fed, I believe, for over a year, at least supplemented with feedings so that he would gain weight.  Nowadays, it pretty common to see those special feeding gastrostomy tubes, and that’s just the fancy word for a tube that’s placed in the stomach.

Monitoring the weight is a life-long task.  So, you see this difficulty in feeding usually up until around the age of 2.  And so, there is just this constant life where you’re focusing on food and on nutrition.

(Slide S3) A Life Long Continuum of Challenges for Children and Adults with PWS

Once the weight starts to increase, then you have to go into reverse.  Then you have to start monitoring calories.  You need to begin putting them more on a calorie restricted diet.  However, it is so important for parents to receive nutritional counseling because we don’t want to limit the fat intake in our infants especially prior to the age of 3 because we need fats for normal brain development.

There’s new research now on the use of growth hormone in our infants.  So, we are increasing muscle mass.  We are affecting respiratory function.  We are making them taller.  We are making positive changes that are affecting their developmental milestones.  So, with stronger muscles, they are sitting and walking and talking sooner than the child with Prader-Willi did 10 years ago.

Some of the main health concerns that you will see in the infant and young child in addition to their nutrition include strabismus, which is crossing of the eye, and this too can be a result of poor muscle tone.  Sleep apnea, which not only has the poor muscle tone component, but there is also a defect in the hypothalamus that may contribute to central brain initiated sleep apnea.  And we’re also even seeing scoliosis in our infants.

Because of all the research that we are doing in the area of growth hormone, we are probably discovering some issues and problems at a much younger age.  It’s not to say that these are new findings.  It’s just that we’re looking a lot closer at our infants because of the research that’s going on.

(Slide S4) A Life Long Continuum of Challenges for Children and Adults with PWS

There are also the delayed developmental milestones.  Because of their poor muscle tone, it impacts sitting, crawling, walking, talking.  Early intervention services are required and can make a big difference.  We also see that excessive sleepiness.  They must be stimulated.  They must not be allowed to sleep all of the time.  This affects their feeding, and their speech and language.  So speech and language therapy services are very important to assist with feeding and to develop early communication strategies.  That is probably one of the main areas that can become a frustration area for these little ones.  They need a means to communicate.  Many of them use sign language and/or communication boards.

Now, this little guy that you’re going to see in this photo is in a device that is helping him with weight-bearing.  This happened to be a picture that they took right around Halloween.

But, therapy services are really a common part of their everyday life.

(Slide S5) A Life Long Continuum of Challenges for Children and Adults with PWS

The school-aged child.  First, we’re also going to talk about nutrition and their health needs.  This is when we start to see the onset of food preoccupation and food seeking.  School age for our children can be age 3.  They usually start off in the early childhood programs.  This is when we start to see weight gain and a more interest in food.  There are different degrees of intensities.  Most families need to begin to lock up their food usually maybe around the age of 6 to 8.  Some may use alarms.  It’s just dependent upon the intensity.  It’s rare to see a child at age 3 having a strong food drive, however, it does occur.  All, no matter what, will require close monitoring of calories and their weight.

It’s important to initiate an exercise program.  But, in the school-aged child in particular, it’s most important to make it fun.  Make it age appropriate.  I kind of called it “sneaker-cise.”  And if you’re sneaking exercise into their daily program, going to the playground, having them get up, climb up and down that ladder on the slide, taking them sledding, getting up and down that hill.  It’s exercise, it’s fun, and they don’t even realize the benefits that they are getting.

(Slide S6) A Life Long Continuum of Challenges for Children and Adults with PWS

Their health concerns.  The big thing that we see is the poor muscle tone, the hormone depletions.

Growth hormone therapy is an FDA-approved therapy for children with Prader-Willi Syndrome.  They don’t even have to have growth hormone deficiency tests done.  It is almost 100% a finding in children with Prader-Willi Syndrome.  So, by initiating growth hormone which is a daily or weekly injection, depending on your endocrinologist, we are seeing an increase in muscle mass, a decrease in fat.  It improves their bone density.  It improves their cardiac and respiratory function.  So we are having so many benefits.  In addition, it does make them taller.  But that is not the primary reason that we are looking at replacing this hormone.

During the school age years, we also start to see a problem with skin-picking.  And this can become more problematic.  We may also see problems with sleep apnea and scoliosis.  I will be getting into a little bit more detail later on, on the skin-picking aspect of this disorder, when we talk a little bit more about the health concerns.

We must be concerned with one health aspect throughout their life.  And that is their pain response.  People with Prader-Willi Syndrome have an altered pain response.  So they do not feel pain the way that you and I do.  So, they may have an injury, they may have an illness, an ear infection, a ruptured appendix, and not feel pain the way that you and I do.

They also have problems with temperature control.  And they may be very sick but not run a fever.  So, we can’t always use fever as a guide.

They also are at risk of gastric illness.  This is a new finding that we are seeing developing.  And it may be that we are looking closer at trying to figure out some of the causes of death in our children and our adults because many of these gastric illnesses occur because of a child or young adult eating in excess; and in essence, stretching their stomach to a point where it’s cutting off the blood supply and with that they rupture their stomach.  And in many times, we aren’t aware of this happening until they become very ill.  And in most cases, this is something that we are finding on an autopsy.  Now, with more awareness and understanding, hopefully we will be catching it sooner and would be able to diagnose it quicker.

(Slide S7) A Life Long Continuum of Challenges for Children and Adults with PWS

Also during this time, we do see a lot of fine and gross motor delays.  This impacts a lot in their learning and daily living skills; writing coordination, dressing, and toileting skills can be delayed.  It may also impair their recreational abilities; riding a bike, doing sports, dancing.  So these can impact their quality of life in being able to do a lot of things that other non-disabled children may do.

And once again, that speech and language delay, we see many articulation problems because of weak facial muscles.  We see processing problems.  They tend to have good receptive skills so they can understand what we’re saying.  However, they have poor expressive abilities.  It is so important to find a way for the child to communicate.  When they’re not able to, they become very frustrated, and this can lead to an excalation in behavior problems.  Speech therapy is very common, and it is common through grade school, middle school and up through high school.

(Slide S8) A Life Long Continuum of Challenges for Children and Adults with PWS

Many, if not most of our children, and our young adults have learning problems.  Approximately 88% have a cognitive disability.  Others typically have a learning disability.  Many are visual learners.

And if I could share one strategy that can often times turn things around, is for a teacher or an educator to put things into a visual format.  And this is isn’t only for academics, but it’s also for behaviors.  Writing things down can be a very effective strategy in changing and turning things from a bad situation into a good situation.  They do very well with a structured approach; keeping things the same.

The days at school that are the most challenging for the student with Prader-Willi Syndrome are the days when there maybe a substitute teacher who does something in a different way than the primary teacher.  It is the day when there is a special assembly or a field trip.  The day where there are changes in the way the typical day is run.

They tend to be concrete thinkers.  They have a difficult time with sequential processing.  They have a hard time putting things in order.  They’re black and white.  It’s either yes or no.  A response like “maybe” or “later” is a grey response, and can cause an increase in anxiety with these young ones.

The sequencing problem makes it difficult for them to often times understand cause and effect.  It maybe they get the effect, but they don’t always understand what they did to cause this effect.  And that can be extremely frustrating when you are trying to teach them behavior consequences.

There is also the challenge of food in the learning environment.  Food is many times used as a reward.  It may be used as a manipulative.  There are vending machines down the hallways.  There are fund raisers for the PTA, for the various clubs.  There can be food surrounding them in all aspects of the learning environment.

And when there is food present, they will focus on the food.  They will not focus on academics.  So, educators need to their best to get food out of the visual and out of the olfactory, the smell, because if they can smell the popcorn that’s being popped for the fund raiser that’s going on, they will not be able to concentrate on the materials at hand.

Anxiety, frustration and behavior escalation often interfere with their learning.  If we are in a highly anxious state, any of us, it is difficult for us to clearly hear, understand and comprehend what’s going on.

(Slide S9) A Life Long Continuum of Challenges for Children and Adults with PWS

The next area is the behavior challenges.  As I said, they have a strong need for structure and consistency.  They are very anxious students.  They have an inability to regulate their feelings, their emotions, their responses.  This inability to regulate also carries over into their inability to regulate their appetite.

So, if you were going to kind of summarize this is to what is Prader-Willi Syndrome really about.  It is a disability where there is a regulation defect.  Food and change are probably the 2 most common –

Food and change are the 2 most common causes of escalation in behavior.  Frequently, I will get a call from a teacher saying, “Oh I had such a bad time.  They have such behavior problems.”  And my first approach is, “Give me an example.  Tell me what happened today that may have caused this.”  Most of the time they say, “No.  It came out from out of nowhere.  They were just upset.”  So I’ll say, “Okay.  Let’s just take it step by step.  They arrived at school.  Well, once again, if there is a change.”  “Well, today was a special day.  But that’s a good thing.  We’re going to visit the zoo.”

Well, good things can have change just as much as bad things can have change.  So it’s that change component that can often result in the student not being able to handle any other sorts of things that day.

They can be very easily overstimulated.  So, holiday times when there are parties, when there are special events, those sorts of things.  Not only do they cause a change, but they also can cause excitement.  And not only for the person with Prader-Willi, but for other students which can then be a sort of a contagious situation.

When it becomes extreme, you may see a student with Prader-Willi Syndrome start to cry.  They may start to yell.  They may start to push and shove things off of table tops or desk tops.  They may become more aggressive.  It can go from stage 1 to stage 10 very quickly or it may gradually increase.  There are varying responses.  However, it is not uncommon to see a rage-like episode occur when frustration, anxiety is not addressed and intervened upon quickly.  So you may see this in the student or the child with Prader-Willi Syndrome.

(Slide S10) A Life Long Continuum of Challenges for Children and Adults with PWS

School-aged children love to be around others.  They often times exhibit what I call parallel play or parallel existence with their interactions.

I recall when my son went off to camp, and one of the counselors was saying, “You know, he’s a happy go lucky guy but he really doesn’t talk much to the other campers.  He participates, however, it’s almost like he is on his own little world.”  And they were very concerned about this.  So when he came home from camp, I said, “How was your day?”  “Oh mom, there’s just so many neat kids there.  I’ve met so many kids there.  My friends and we play.”

They do not perceive that they are not really interacting.  So, they are parallel existing many times but they do not see themselves that way.  They do see themselves as being a part of whatever activity that they may be attending.

So, what the challenge may often times be as parents, as caregivers, as teachers, as camp counselor is to get them involved.  Have them interact.  You may need to role model.  You may need to give them some suggestions of what to say or how to become more interactive.  But they are very capable and wanting this to happen.  But they often times just don’t perceive it or don’t have the skills to know exactly what to say.

Many don’t do well with that mini winning and losing aspect when playing a game.  And it’s a concept that, I think, needs to be addressed because that is a life-long situation.  And so, we do talk about it prior to playing a game.  We try to give them strategies, and we reward them when they are able to be involved in a situation where they lose and can move on.  “It’s okay.  It doesn’t hurt me.  It might hurt my heart a little bit but I’m okay.”

Fairness also becomes an issue.  What happens to you especially if it’s a good thing better happen to the person with Prader-Willi.  This is especially true in the area of food.  If you’re getting something to eat, they want something to eat.  If you’re getting something big to eat, they want something big to eat.  If you’re getting 2 things, they want 2 things.  They can really become very focused on fairness.

I’ve worked with many different people who have varying disabilities over the years, and this need for fairness stands out more pronounced in persons with Prader-Willi Syndrome than I have seen in other developmental disabilities.  And it’s that need for fairness that can really cause behavior escalations in many situations.  They have a life-long need to have assistance in the area of social skills and peer interactions.

(Slide S11) A Life Long Continuum of Challenges for Children and Adults with PWS

Next, we go on to the adolescent with Prader-Willi Syndrome.

They do have life-long nutritional and health needs.  Food seeking often increases during the adolescent years.  The environment can become more challenging to control, however.  Their world becomes bigger.  It’s just a tendency that we gain more control in our environments and be able to be out in the community more when we become teenagers and into our young adult years.  And that can become very problematic for the young adult with Prader-Willi Syndrome.

Weight issues in general are just more problematic.  They require closer supervision at a time when most young adults are wanting less supervision.  Exercise remains very important.  It gets a little more challenging finding play activities that we can use to incorporate, and that’s when we need to start talking more about the health importance in exercising daily.

The health concerns are pretty much the same as the school-aged child.  However, we need closer supervision to prevent binge eating because they are probably even at higher risk of having a gastric illness situation because it’s just a difficult time to have that closer monitoring.  Growth hormone therapy is common.  And once again, there’s just a life-long concern over that lack of pain response, the poor temperature control, skin-picking, sleep apnea, scoliosis.

During the adolescent years, this is a typical time for growth, and that, in the general population, is the higher risk time for the development of scoliosis.  And this is also a time where we may see scoliosis become more problematic.

(Slide S12) A Life Long Continuum of Challenges for Children and Adults with PWS

It’s common to seize the onset of the little hormonal surge.  However, there are incomplete puberty changes.  There maybe that early growth of pubic hair and underarm hair, that precocious puberty time.  Once again, women may or may not menstruate or have irregular menses.  Some have breast development.  Some, it’s more fat deposits in the breast area.  Boys start their voice changes and they may or may not have a complete change in voice.  Some have beard growth.  Some have sparse beard growth.  The testicles may descend if they haven’t already done so surgically as an infant.  And this is an area of still some debate.  With our infants now, you probably will see more of them have the testes brought down as an infant.  However, there are some physicians that will say, “Well, let’s wait till puberty time to see if that surge of hormones might cause the testes to descend.”  If that doesn’t happen, then they will go in and do surgical intervention.  However, if they do not have this descent by their teen years, it is important for this procedure to be done because they are at risk of developing a malignancy just as much as any other male who doesn’t have Prader-Willi Syndrome.

(Slide S13) A Life Long Continuum of Challenges for Children and Adults with PWS

They too have learning challenges, and they continue to require special education services.

Food can be even more challenging in the learning environment.  Frequently, I may be called upon to do a consultation in a school.  I’ll go in and learn that it is okay for students to bring in a can of pop to their classes, that they can eat during their classes, and that can be extremely problematic for the student with Prader-Willi Syndrome.

Consistency in educators is more challenging. As you grow up and go into the middle school, high school time because we tend to change classes frequently.  So, we may have an art teacher and the language arts teacher, and a history teacher, and we may have 5 or 6 different teachers.  And that can be very problematic for the student with Prader-Willi Syndrome who has a hard time with change.

Many require a smaller group approach to learning.  And it’s at this point in time that inclusion can become a little bit more problematic.  Many of them just are not able to handle that great number of changes.  You may see an in increase in behavior problems during that time, and this can be one of the reasons.

There may be a need for more behavioral support.  A social problem is that they can be teased more often especially if weight is an issue.

Food, however, still remains probably one of the most common reasons foreseen challenging behaviors.  You may see lying.  You may see stealing.  They may steal money because money buys food.  That gives them access to the vending machines down the hallway in order to obtain food.

One word of caution; I would like to mention is that if a teacher, if an educator comes upon a student who has food in their possession, do not put your hands upon the student and forcibly take it away from them.  I will guarantee you that there will be an assault, and we don’t want the student to hurt anyone.  We don’t want them to be hurt.  And we would like to try to avoid them having a suspension occurring.

And so, what we encourage educators to do, and parents to do, is use words.  Try compromise.  Try negotiating.  Try trading.  If needed, they end up getting the food and they may have to have their diet adjusted later on in the day.  Don’t threaten.  “Now, if you don’t give me that food, you’re not going to get your snack later.”  Don’t go there.  What you’re going to end up doing is just agitating the student more and having an increase and escalation, and there may be an assault that takes place because you’ve just threatened them with food.

(Slide S14) A Life Long Continuum of Challenges for Children and Adults with PWS

Social skills.  Once again, ongoing need.  They have a strong desire to be like their peers.  They want friends.  They especially want a boy or a girlfriend.  They often lack those skills.  And they can become obsessed with friends and phone calls.  This is a time where we sometimes have to limit phone calls because I call it “innocent harassment” can occur.  They just want so badly for you to be their friend that they may call you 10 times that night, and you may say, “We’re done talking.  We don’t want to talk anymore.”  But they don’t often get that cue.  So we have to step in and assist them.

They receive mixed messages; what they’re told they can or cannot do, and what they see others doing.  As I recall when my son was in middle school, their school rule is no touching or kissing while in school or at the dance.  However, walk through the hallways of a middle school, and you will see boys and girls holding hands.  You might see the boyfriend and girlfriend behind the locker and sneaking a kiss.  However, our students are caught.  They are watched so closely, and they’re the ones that may end up getting in trouble for doing some of the things they’re told not to do, however, some of things that they’re seeing in the hallways.

Another area that they frequently get in trouble with is sort of sexual inappropriateness.  They may initiate trying to kiss someone, and don’t always know what are the appropriate places, times, skills involved in that.  So, it’s not uncommon for our young people, adolescents, to get a suspension because of inappropriate sexual touching.  It’s not that they are trying to be sexual deviants.  If anything, the opposite is true.  They’re just trying very much to fit in a time when they really do not necessarily have the skills.  And that’s what they need.  It is to learn the when’s, the why’s and the how’s.  They are very curious about it.  They can’t escape it.  Our media, the environment they’re in the school, is all pointing in that direction.

Social coaching and close supervision is often very much needed.

(Slide S15) A Life Long Continuum of Challenges for Children and Adults with PWS

Preparing for adult life, independent living, and work skills is a big priority as they go into that transition time.

In order to prevent extraordinary weight gain and life-threatening obesity, adults with Prader-Willi Syndrome require support 24/7.  All access to food must be controlled whether it’s locks on the refrigerators and cabinets, locks on the kitchen doors, alarms put in different areas, alarms on the front and the back door, so that they don’t leave and go down the street to a convenient store and either purchase or steal food.

They do need to learn daily living skills.  They do need to learn how to do their laundry, how to clean their rooms, how to make their beds.  Most do not need the skill of cooking, however, some are able to manage that if their food seeking is at a lower range.

Money skills are needed, however, that’s an area that needs to be closely monitored so that they are not purchasing food and other items that they may get in trouble with and access.  An example might be the internet access.  Believe it or not, I do know of a case where someone went on the internet and literally ordered a half a cow to be purchased and delivered to their home.  So, you can only imagine the surprise when the meat truck pulled up in front of the parents’ home, ready to deliver a half a cow.

Phone access has to be monitored.  When they call and have pizza delivered.  So, there are just so many areas where we have to be diligent in watching their access to food.

(Slide S16) A Life Long Continuum of Challenges for Children and Adults with PWS

Finding a job can be challenging.  It requires detailed attention to all aspects of food.  Where are their break rooms?  Is food set out a lot there?  Do they have vending machines in the break rooms?  What’s the food culture of the work environment?  And there are many work environments where every Friday is potluck day.  And if it’s Joe’s birthday, Joe brings in a treat.  And if it’s Christmas, we do cookie exchange.

But food can be a main part of the culture of a work environment.  And in that case, do we expect the work environment to totally change their ways?  In some cases, if it’s minor, we may ask and see.  And in other cases, it may be asking too much.  And it may be asking too much for the person with Prader-Willi Syndrome to work in an environment like that.

There are needs to also be a good match for their physical capabilities.  They do have poor muscle tone.  They may not be able to lift and carry many items.  There can be an endurance problem.  They can become sleepy and require more rest times.  Is the work consistent?

That’s another area where I frequently get calls, saying that they’re having troubles in the work environment.  And when I’ll ask them, “What sort of work do they do?”  The problematic areas occur when there is not consistency.  “Well, when he comes in, sometimes there’s filing to do.  But if there isn’t, then we do copying.  But if there isn’t any copying to do, then we might do something else.”  It is difficult when there isn’t the same routine on either a daily basis, or you know that you do all the filing on Tuesdays and Thursdays and all the copying on Mondays.  You need to develop some sort of plan

Most do well in a sheltered work setting where food and behavior concerns can be addressed.  There can be a balance, however.  It may be possible if you can provide one on one supervision for a person with Prader-Willi Syndrome to do some work in a sheltered setting and some work in a community based setting.  So, they are getting kind of a little bit of both in exposure to the community to non-disabled workers.  But yet, at the same, having somewhat of a break and a consistency in the sheltered work environment.

I’ll be honest with you.  That’s what we are doing in the case of my son right now.  And that is just really a good balance for him.  Some of his roommates are out in the community totally, and some of his roommates are in a sheltered work shop.

The needs of the person with Prader-Willi Syndrome are very individualized.  What we must do is provide a successful safe work environment for this person.

(Slide S17) A Life Long Continuum of Challenges for Children and Adults with PWS

When they reach the adult years, nutrition and health remain pretty much the same as they do during the adult years.  The diet, nutrition, weight management is life-long.  We continue to need preventing access to food.  They need that safe environment.  And they will literally call it a safe environment.  It makes them have less anxiety if they don’t have to worry that something is unlocked.  Or that they may either get sick or that they may get in trouble if they go into the kitchen or go into the office where the staff has their purses or the candy dish.  So, preventing access to food really is a quality of life issue in many ways.

Preventing obesity and its complications.  Once again, a life-long challenge.  For many of us, as we age, our calorie needs can change.  And we often times need less calories, and that can also be the case for the person with Prader-Willi Syndrome.  The average calorie requirement for a person with Prader-Willi to maintain their weight is about 1,000 – 1,200 calories.  To lose weight, it is around 800 calories.  So, as they age, those calorie requirements can be lowered as well.  So, as you can see, that’s not a whole lot of calories.  And you combine that with the fact that they are always hungry is really a very challenging life that they lead.

Health concerns.  As they get into the adult years can be a greater incidence of orthopedic issues.  Osteoporosis can be very problematic especially in our elderly today.  They face a life-long deficit of hormones, either be it growth hormone or their reproductive hormones, which all contribute to us having stronger bones; plus, they’ve lived a life of dietary restrictions that aren’t like today.  Today, we can find many products that are calcium-fortified.  When these adults were in their prime years, we didn’t have that sort of nutritional supplementation available.  So, they are even at higher risk of osteoporosis.

Our adults of tomorrow may be at less risk because of the growth hormone therapy, because of more foods having this supplemental nutrition.  But along with the osteoporosis then becomes a higher risk of fractures and of higher risk of spine problems.  Those spine deformities that often can go along with osteoporosis.

I’m frequently asked: What are the health issues that we are seeing as they age?  I can tell you this with all honesty is we are currently learning what the aging issues are.  People with Prader-Willi Syndrome didn’t use to grow old.  They used to die in their late teens and early 20s because of the complications of obesity.  In all honesty too, it still does happen for people who aren’t managing their weights appropriately.

But we are seeing more and more in their 50s and approaching 60.  So we are learning.  I did recently talk to a physician who had just returned from assisting a 50-something year old gentleman with an assessment for dementia, and he was started on medication used to treat Alzheimer’s.  This is the only case that I personally have heard about it, but it may be that we may hear more of this.  There’s also a familial component to some of these issues.  So, it may be a part of that as well.

(Slide S18) A Life Long Continuum of Challenges for Children and Adults with PWS

Behavior challenges.  Here’s some good news; tend to decrease with age.  There’s been some research that has been done by Dykens in 2004 which showed that they became less rigid.  It seemed to be little more – that they became less rigid and better able to handle changes.  I think it’s great.

I think too, we, as care providers whether we be parents or residential support people, are getting an understanding and environment that is more structured and that they do feel more secure in.  And so, environmentally, we’ve learned a lot as well over the years.

(Slide S19) A Life Long Continuum of Challenges for Children and Adults with PWS

We also have a challenge for these adults in their social relationships; dating, marriage and family.  Some of the normal adult developmental milestones.  And like I said, they have a life-long desire to date, marry and have children.  We need to be facilitating opportunities where they can date and have a relationship with another person.

However, many of them need more concrete information about dating etiquette and social decision making.  The agency that supports my son has developed dating contracts for people so that they clearly know what is appropriate, when is it appropriate, and where it is appropriate.  So, it clearly spells out for them what they should be doing, and where.

Many of them want to marry.  And in all honesty, I wish there was a way that they could marry.  And by law, they are capable of doing so.  However, there is a significant financial impact that happens when two adults marry who have any disability.  Their benefits get caught.  And currently, they’re living below poverty level, and many of them do not have full-time jobs that have wages that they could really support themselves.  So, you really have to look at the practicality of marriage in these cases.

In addition, I think there are few that really understand marriage commitment and what that really entails.  As I had mentioned earlier, many of them want to become parents, but because of hormone deficiency, most of them are sterile.  So, this is not a realistic - in most case, a possibility for them.

Once again, there have been a few cases where women have had children but we’re still not sure for men.  If they are sexually active, they do need to get instruction on contraception and on sexually transmitted diseases.

For the most part, they are very happy with going to dances, going to movies, and just being entertained in general in a mixed environment where they have the ability to socialize and have relationships with other individuals.

(Slide S20) A Life Long Continuum of Challenges for Children and Adults with PWS

As far as independent living, there are no known cases of adults with Prader-Willi Syndrome successfully living independently without support.  When these attempts have occurred, life-threatening obesity has resulted.

If there’s a way that we can somehow control that appetite control center, that food seeking behavior, I firmly believe that there are many adults with Prader-Willi Syndrome who may be able to live more independently in our communities.  But it’s because of that one aspect of their disability that makes this reality at this point in time not possible.

Some continue to live at home with their parents, and that’s a choice the parents make.  No matter what, they still need support 24/7.  Most of them can be responsible with their care and the upkeep of their home.  They are happy.  They can be active, productive members in our communities.  And that’s what I tell many – especially parents of younger children when they ask me about my son.  I think as a parent, no matter what, what we want is our children to be happy, to be safe, and to be productive members in their community.  And I can honestly say that in my son’s case, that that’s possible.  And, in many of our adults, that this is possible.

So, being independent is quantitative.  I think they can be somewhat independent but yet be happy.

Work.  There’s a life-long for a food-safe work environment.  They need that low frustration with a predictable work pattern.  I support having a sheltered work environment with community-based placement as well.

I think as our population ages, we’re also going to be needing to look more closely at programming for the elderly.  I know there are talks going on.  And I know there are some programs that are initiating in this area.  I think however, we still need to be looking at that even more so.

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