What exactly is Prader Willi Syndrome (PWS)? While Prader Willi Syndrome isn’t a personality or eating disorder, it does affect those two areas.
Typically, we might not discuss this type of medical condition as it’s not exactly a mental disorder. However, it is closely related to symptoms of personality disorders and eating disorders.
It might be helpful to discuss PWS to understand the connection between psychological and genetic health complications.
While this syndrome does not fall into the category of disorders, individuals suffering with it will experience various issues and limitations in everyday life.
What is Prader Willi Syndrome
PWS is a syndrome that is described as a genetic condition. Typically, this syndrome can be spotted early on in a child’s life.
When a baby with PWS is young, they will usually have a hard time feeding. They will develop much slower and will be weaker than a baby without PWS.
While babies usually don’t develop quite at the same rate, babies with this syndrome will be noticeably stunted in growth and development.
Symptoms and Signs of Prader Willi Syndrome
Unusual Facial Features
There are a handful of facial features that are associated with Prader Willi Syndrome.
The most common/noticeable are almond shaped eyes, a narrow upper lip, a thin bridge of the nose and a narrow forehead near the temples.
They are also known to have downturned corners of their mouths. Usually it’s noticeable when someone has PWS although some people will have more of these features than others.
Usually, the eyes and mouth are the most predominant feature that you may notice.
Stunted Growth
From the time they are born, people with PWS are slow to develop and grow.
This is due to irregular hormones and the genetic factors that cause the syndrome. People with PWS will usually be short even if their parents and siblings are tall.
If you’re living with and caring for a loved one struggling with PWS, it can feel overwhelming and lonely. Personal counseling can help with the emotional struggles you’re dealing with. Similarly, sessions with your loved one can help ease anxiety, depression or anything else you or your loved one may be experiencing.
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Scoliosis
Along with several developmental issues, scoliosis is common with those suffering with Prader Willi Syndrome.
This is usually due to small fractures that continuously occur, causing the spine to grow in an abnormal way. The reason why people with PWS usually are living with scoliosis is because their bone density is much lower than someone without this syndrome.
Their bones fracture more often, causing them to grow and develop differently than someone with healthy bone structure/density.
If you’d like to read more about scoliosis as it relates to PWS check out this article from scoliosisassociates.com.
Compulsive Behavior
There is usually only one key compulsion that those with PWS are known for. Scratching or picking at their skin is very common. Unfortunately, this usually leads to more health issues such as scarring and infections.
Poor Sleep
People with PWS usually suffer from poor sleeping habits. This can be very disruptive as they typically suffer from excessive daytime sleepiness.
They will sleep during the day sometimes which will continue the unhealthy sleep patterns at night. Usually, the sleep issues are due to the individual’s obesity and respiratory issues; however, other factors can contribute to the problem as well.
Obesity
People suffering with Prader Willi Syndrome suffer from a slow metabolism and other poorly functioning health issues.
Their metabolism is slower than a healthy rate which results in the inability to properly distribute food energy. Not only will they experience a slower metabolism due to their genetic makeup, but they also develop the desire for compulsive eating.
They will eat compulsively and often feel like they are unable to be full.
Learning Difficulties/Disabilities
When children with PWS are in school they will experience difficulties learning and will usually need special assistance.
A tutor or special classes are usually enough to help them successfully help them learn, although some cases are more extreme than others.
As adults, people with PWS may experience difficulties at work as they may have a hard time focusing or learning new tasks.
Under Developed Sexually
From birth, individuals with PWS will have underdeveloped genitals. As they grow into adulthood, they will experience difficulties achieving full puberty.
The hormones associated with optimal sexual health are lacking in these cases and it is common for people with PWS to be infertile. It is also common for men to never experience a lower voice.
They may never have their testicles fully descend either. Women with PWS will not have regular menstrual cycles and will likely not be able to conceive.
Behavioral/Psychiatric Issues
Temper tantrums and irrational outbursts are typical with both children and adults with Prader Willi Syndrome.
People with PWS will also seem to pick fights at times as they tend to be augmentative and take opposing stances frequently.
They may also come off as controlling during a conversation and may act out irrationally if they do not get their way.
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Stages of Prader Willi Syndrome
There are 4-5 stages of the syndrome’s progression throughout an individual’s life. In the past there were thought to only be a couple (early childhood and teen/adult), but studies have shown that there are typically more distinct stages from infancy to adulthood.
Here is a breakdown of the 4-5 stages and their substages.
Stage 1 (0-24 months of age)
It should be noted that there is a phase during the fetal development (the mom’s pregnancy) that is considered the first phase.
During this “phase 0” it will be noticeable that the fetus will be moving much less than typical fetuses move. They will also be below typical weight at any given point during development.
Stage 1 spans from the time the baby is born until 2 years of age. During the first ⅓ of this time, the baby will have difficulty feeding and will not seem to have much of an appetite.
The last ⅔ of this phase (up until they’re 2 years old) is the opposite. During this time, their appetite significantly increases and they usually reach their appropriate weight.
Stage 2 (ages 2-8 years)
From the ages of 2 until around 4 ½ the child will appear to have a healthy appetite and will be at a healthy weight for their age/size.
From around the age of 4 ½ until they are 8, their appetites will start to increase and they will start their obsession with food.
At this point they will be able to feel the discomfort associated with overeating and may go back and forth between overeating and eating an appropriate amount.
Stage 3 (age 8 – adulthood)
At this stage, the individual will rarely feel full after eating and they will begin to eat more and more. At this point they may start to develop other health issues due to their unhealthy relationship with food.
Stage 4 (adulthood)
By the time they reach full adulthood (late 20s or older) the individual will no longer experience a healthy appetite. They will rarely have the ability to feel full and will be habitually overeating often.
Causes of PWS
Since Prader Willi Syndrome is a genetic condition, there are a handful of scenarios that could cause this. Chromosome 15 is the particular strand of genes where this syndrome is coming from.
Here are a few possible scenarios where the dysfunction of chromosome 15 causes PWS.
The father of the child with PWS could have contributed chromosome 15 that were missing some of the genetic makeup.
Similarly, PWS can also occur if the child of the mother contributes 2 chromosome 15 genes and the father does not contribute chromosome 15.
Basically, if part of the paternal chromosome 15 is missing or absent altogether, this syndrome is likely to develop.
Is Prader Willi Syndrome Treatable?
As of now there is no cure for PWS. While various treatments are available to ease the symptoms and issues for those with PWS, a full cure has not been established.
Genetic syndromes are different from disorders in this way. Genetic syndromes have yet to be cured in most cases as they are a physical part of genetic makeup and a series of physical and mental effects stem from them from the time of birth.
Disorders are more mental than physical and can often be revered as they were developed over time and not previously existing in the individual from the time of birth.
Gene therapy is a great option to attempt full treatment although the success depends on the individual case.
This is when genes are used to manipulate the current state of the genes. Gene therapy can be done in a few different ways, depending on the individual.
- The Chromosome 15 that is not functioning properly can be modified to attempt correction of how the chromosomes work.
- Complete replacement of the dysfunctional chromosome.
- Inputting a whole new gene
There is also a chemical that controls the dysfunctional gene that can also be manipulated to achieve the desired result.
It should be known that this therapy is relatively new and unexplored. While studies are being done to optimize the practice, it is not the go-to treatment option for those who are searching for treatment or recovery.
Learn more about how gene therapy related to the treatment of PWS in this article from Foundation for Prader-Willi Research.
Common Myths
Like many mental and/or physical health conditions that are not fully understood, there are a variety of myths that people often believe that simply are not true.
Here are a few common myths that are commonly misunderstood about Prader Willi Syndrome.
Everyone Who has PWS is Overweight
While those struggling with PWS usually do not feel full and tend to continuously overeat, not everyone with PWS is obese.
There are some individuals whose symptoms may not be as severe as other’s and while it is difficult, they are able to control their weight with diet and exercise.
People with PWS can Control Their Appetites
A lot of people don’t understand that people with PWS never feel full after eating. They simply think that people with PWS have no self control or are lazy when it comes to staying in shape.
While it’s true that it’s a choice to exercise, those with PWS are at a disadvantage as they always feel hungry. Imagine never having that satisfying feeling after a delicious meal and always feeling like you need more!
People with PWS Cannot be Happy in Life
I’m not sure why people think that just because you have a medical issue that you cannot be happy.
We are all living with different issues and while some are more intrusive than others, we can find ways to be happy.
Those with PWS usually have no trouble finding happiness in life.
Unlike disorders such as Schizoid Personality Disorder, people with PWS enjoy a variety of relationships and social activities.
People with PWS will Die at a Young Age
The reason why people sometimes think that those with PWS will die at a relatively young age is due to the previously debunked myth that all with PWS are obese. Anyone who is obese is at risk for premature death.
Just as anyone with PWS has the capability to work on achieving and maintaining a healthy weight. Just because someone has PWS does not mean that they are going to die prematurely.
I hope this article was helpful for you. Usually, PWS can be found listed under various mental health disorders so I wanted to go into some detail about how this genetic condition is different.
If you or someone you know is living with PWS and would like to talk to a counselor about it, feel free to reach out and get help!
Talking to someone about your struggles isn’t just for those with mental and emotional health struggles such as anxiety and depression. Emotional health is important for all to achieve!
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