Prader-Willi syndrome
Prader-Willi syndrome
is a rare and complex disorder that affects many parts of the body. This is due
to a problem with one of your chromosomes (the strand of DNA that carries your
genes). This can cause physical problems such as severe hunger and muscle
weakness, as well as learning and behavioral problems.
Only 1 in 10,000 to
30,000 people worldwide have Prader-Willi syndrome.
Causes
Prader-Willi syndrome
usually results from problems with your genes. In most cases, doctors don't
know what causes it, but about 2% of people with Prader-Willi syndrome have it
because they didn't get the correct copies of a particular chromosome from
their parents.
There is no way to
prevent this. But if you're planning to have a baby, you and your partner can
get tested for the risk of Prader-Willi syndrome.
Trauma to the head or
brain can also cause the syndrome.
Signs and symptoms
The child may show
signs of Prader-Willi syndrome in the early stages. It may have almond-shaped
eyes, the head may taper at the temples, the corners of the mouth may droop,
and the upper lip may be thin.
He may also have the
following symptoms:
- Poor muscle tone or limbs that hang loosely when you hold him
- Inability to suck or nurse well, so he gains weight slowly
- Eyes that cross or wander
- Appearance of being tired all the time
- Weak or soft cry
- Poor response to you
In early childhood,
children with Prader-Willi syndrome begin to show other signs. This affects a
part of their brain called the hypothalamus, which is what tells you you're
full when you eat enough food. People with Prader-Willi syndrome do not feel
full, so the most common symptoms are constant hunger and weight gain.
A child with
Prader-Willi syndrome may always want more food, eat large meals, or try to hide
or save food to eat later. Some children even eat food that is still frozen or
from garbage.
Your child may also:
- Be short for her age
- Have small hands or feet
- Have extra body fat and not enough muscle mass
- Have sex organs that may not develop
- Have mild to moderate learning problems
- Be slow to learn to talk, sit, stand, or walk
- Have temper tantrums
- Pick at her skin
- Have sleep problems
- Have scoliosis -- a curved spine
- Have too little thyroid or growth hormones
These signs of
Prader-Willi syndrome are less common, but some people have them:
- Vision problems, like being nearsighted
- Lighter skin and hair color than the rest of the family
- High tolerance for pain
- Inability to keep body temperature under control during a fever or in a hot or cold place
- Thick saliva that can cause tooth decay or other problems
- Osteoporosis, or thin, weak bones that break easily
Because their sex
organs do not develop, women with Prader-Willi syndrome may never menstruate.
Or they may start menstruating much later than others. Men with Prader-Willi
syndrome may not have facial hair. They may have small sex organs and their
voice may not change during puberty. People with Prader-Willi syndrome are
usually unable to have children.
Diagnostics
Your doctor can usually
diagnose Prader-Willi syndrome with a blood test called a methylation test.
This shows if there is a problem with the gene that can cause Prader-Willi
syndrome.
Treatment
There is no cure, but
if you have a child with Prader-Willi syndrome, you can help them maintain a
healthy weight, have a good quality of life, and prevent future health
problems. Its treatment will depend on the symptoms.
- Infants: High-calorie formulas can help an infant maintain a healthy weight if he or she is unable to eat well due to low muscle tone. You can also use Gavage's special nipples or feeding tube, which delivers breast milk or formula directly into your baby's stomach to make sure he's getting enough food.
- Older children and teens: Set clear limits on how and when your child eats to
avoid excessive weight gain. A low-calorie, balanced diet and plenty of
exercise will help him maintain a healthy weight. Some children with
Prader-Willi syndrome may need to take vitamin D or calcium.
If your child is
trying to grab and hide food, you can lock the cabinets, pantry, or
refrigerator.
For teenagers with
Prader-Willi syndrome, hormones such as testosterone, estrogen, or human growth
hormone (HGH) can help with short stature, low muscle tone, or excess body fat.
Hormonal replacement can strengthen bones and prevent osteoporosis later on.
Antidepressants, such
as selective serotonin reuptake inhibitors, may help with behavioral problems
caused by Prader-Willi syndrome.
Therapy can also help
your child deal with sleep apnea, mood or speech problems, and learning
problems.
Children with Prader-Willi syndrome should have regular eye exams to check for vision problems. Your child's doctor should check for scoliosis, hip dysplasia, or thyroid problems.