Prader-Willi Syndrome Symptoms

Prader Willi Syndrome (PWS), though a rare genetic disorder, can affect both men and women of all races. It is also referred to as 'chromosome 15 disorder'. When some material (genes) on chromosome 15 is missing in the parental chromosome, child with Prader-Willi syndrome is born. Experts say that one in 12,000 to 15,000 people exhibits Prader-Willi Syndrome symptoms.

Symptoms in Babies

In infants born with PWS, abnormality in physical features can be easily noticed. In small children, along with physical abnormalities, affected mental health is also noticed. Prader Willi syndrome symptoms in babies include:

• Low muscle tone (hypotonia)
• Short physique: smaller hands and feet
• Difficulty in sucking milk properly
• Not gaining weight according to the established standards
• Slower in reaching milestones like turning around, sitting, walking, etc.
• Excessive sleeping

In case of a baby with PWS, special feeding techniques need to be employed for feeding the baby.

Symptoms in Children

As the baby grows, the most important symptom of PWS is noticed, that is polyphagia, excessive hunger. This results in life-threatening obesity. Here is a list of PWS symptoms in children.

• Chronic feeling of hunger, excessive eating
• Never feeling satiated (their brains inform them that they are starving)
• Excessive weight gain resulting in childhood obesity
• Incomplete sexual development
• Low level of sex hormones (hypogonadism)
• Mild to moderate intellectual impairment
• Learning disabilities
• Difficulty in leading a logical life
• Temper tantrums
• Respiratory problems
• Lethargy, excessive sleeping
• Eyes not aligned with each other (Strabismus), vision problems
• Delayed motor development
• Speech delay
• Easy bruising, skin picking, discoloring of skin and hair, other skin problems

Children born with PWS may have difficulty in regulating their own eating. Parents have to restrict their food supply and provide them low calorie food to avoid obesity and the related diseases. Many times, parents even have to lock the kitchen and food storage areas.

Symptoms in Adults

The symptoms noticed in adults are:

• Obesity
• Skin problems
• Behavioral problems due to stubbornness, especially during transitions and sudden changes
• Strong need for routine and predictability
• Cognitive problems
• Repetitive thoughts, speaking about the same thing again and again
• Like to collect things, possessive about belongings, obsessive/compulsive behavior (not necessarily about food)

Because of the flaw in the hypothalamus part of their brain, people with PWS never feel satiated. Appetite suppressants are not useful to curb their appetite. Unfortunately, there is no cure for PWS, even though detected in early stage. It should be kept in mind that the symptoms may vary from person to person. It is not necessary that the patient diagnosed with PWS will exhibit all the above symptoms. Number of symptoms will also vary from person to person.

A doctor can recognize Prader-Willi syndrome symptoms after physical examination and also after DNA testing. Restricting the food supply of patients with PWS and controlling the calorie intake can help prevent obesity. The symptoms can be lowered or managed with the help of some specially developed techniques. Regular exercises or increased physical activity can help improve cognitive skills, motor skills, and can control weight gain. Speech therapy can help improve oral skills. Human growth hormone (HGH) shots can help increase height and muscle mass. HGH plays an important role in reducing body fat too.

Though there are no medications for PWS, all these techniques and therapies help relieve pressure on parents minds. There are examples that people with Prader Willi syndrome symptoms have completed school, have developed interest in other areas, and are employed and leading a successful life away from their families. So parents should not give up if their baby is diagnosed with PWS. They should consult a doctor and should contact with other families who are dealing with the same problem. The most important thing to remember is that they should consult the doctor if they are planning for another baby.