Prader-Willi Syndrome Needs Early Diagnosis

While we want our children to be good eaters, to grow “big and strong,” parents whose children suffer from Prader-Willi Syndrome (PWS) actually have the flip side to this axiom facing them each day.

“Children with Prader-Willi Syndrome are hungry all the time,” said Gretchen Hannefield, mother to Katie, who suffers from the medical disorder. “And their metabolism is about 60 percent that of a normal person’s.”

The metabolism slowdown is due to the fact that people with PWS have less muscle, so tend to burn fewer calories. The disorder is caused by a lack of genes on one side of the number 15 chromosome, and it’s estimated one in 12,000-15,000 people worldwide have PWS. According to the Prader-Willie Syndrome Association, although considered a “rare” disorder, PWS is one of the most common conditions seen in genetics clinics and is the most common identified genetic cause of obesity.

For newborns, however, the opposite is a symptom — lowered ability to thrive. Because of low muscle tone, PWS babies have an impaired sucking ability, and it isn’t unusual for them to need special feeding tubes for the months following birth. Then in the few years ahead of school, everything changes and the children develop an intense interest in food.

“We have to lock up everything,” said Hannefield. “I can’t even grow garden plants because she picks them and eats them before they are ready.”

Families must put locks on refrigerators and cabinets, even lock up dog food. If they go anywhere new it means extra vigilance on the caregiver’s part, to avoid the possibility of a food rampage. Unfortunately, appetite depressants don’t consistently work for those with PWS.

While genetics testing is now an option, it wasn’t available when Katie was born. Hannefield, then working in a medical/child development facility, was able to diagnose Katie herself from the diagnostic criteria, then pursued information and treatment. While there is no cure, the earlier the diagnosis is made the faster information can come to families to help them learn the kind of intervention necessary for the life of a child with PWS. Early diagnosis also provides the much needed support from networks and professionals who can help families deal with the disorder.

Preventing obesity is key to supporting those with PWS, to keep their future from becoming worse by diabetes and heart problems. New medications, like psychotropic drugs and synthetic growth hormone, can help improve the quality of life for those with PWS. There are also learning disability issues.

“Like Down Syndrome, kids with Prader-Willi Syndrome have definite physical characteristics,” Hannefield explained. “And because of lowered IQ, their education needs require special attention. Katie attended Town and Country School until second grade, but she graduated last August from Memorial High School.”

Symptoms of Prader-Willi Syndrome

Besides the intense craving for food, there are some earlier signs and symptoms of PWS to look for, including:

• Almond-shaped eyes
• Delayed motor development
• A newborn infant who is ‘floppy’
• Irregular areas of the skin that look like bands, stripes or lines
• Narrow bi-frontal skull
• Very small hands and feet in comparison to the body
• Rapid weight gain
• Skeletal (limb) abnormalities
• Slow mental development
• Undescended testicles in male infants
• A baby remains small for gestational age

According to the Prader-Willi Association and the National Institute of Health, patients with PWS usually do not have a family history of the condition. See a pediatrician with any concerns about these symptoms and for questions on genetic testing.

Categories: Infant/Pre-School, Little Ones