Focus in Prader-Willi Cases Expands Beyond Typical Concerns

Focus in Prader-Willi Cases Expands Beyond Typical Concerns
At a specialty clinic, families feel relief at finding doctors and others who understand their children.

Clinicians who treat children with Prader-Willi syndrome (PWS) often focus on certain difficulties, such as obstructive sleep apnea, yet neglect to properly deal with other important problems – including several affecting sleep, according to a recent article in the Journal of Clinical Sleep Medicine.  

“Without help addressing sleep problems, which often include narcolepsy or narcoleptic tendencies, a child’s quality of life can really suffer, with their school performance, mood and behavior all affected,” said Althea Robinson Shelton, M.D., an associate professor of neurology at Vanderbilt University Medical Center and a co-author of the article.  

Obesity and Apnea of Concern

PWS is a rare disorder, occurring in about one out of 20,000 newborns; as such, it is unfamiliar to many physicians.

Overeating that leads to obesity is among the common earmarks.

“Without help addressing sleep problems, which often include narcolepsy or narcoleptic tendencies, a child’s quality of life can really suffer.”

“In these children, their brains don’t tell them that they are full, so they live with hyerphagia, a relentless, abnormal drive to eat, coupled with low energy expenditure, which causes a lot of weight gain,” explained Ashley Shoemaker, M.D., a pediatric endocrinologist at Vanderbilt and a key member of the care team at the Prader-Willi Syndrome Clinic. Families must often lock refrigerators and cabinets to constrain the child’s eating.

Hypothalamic Dysfunction is Key

“Often a physician’s first thought when a patient has PWS is of obesity and sleep apnea, when the main issue is really dysfunction of the hypothalamus, which plays a major role in satiety, metabolism and arousal,” Shelton said.

Many patients with PWS have a narcolepsy-like presentation. Even those who don’t meet the American Academy of Sleep Medicine criteria for narcolepsy are much sleepier than neurotypical patients, the authors explained. Children with PWS also often have trouble regulating their emotions and exhibit other behavior difficulties, problems that are compounded by exhaustion.

The majority of children with PWS have developmental delays, impaired cognitive functioning, and generally low academic abilities.

Complex, Multidisciplinary Care

“Even if they don’t have access to a specialty clinic like ours, these children need to be followed by a team of doctors, with an endocrinologist as the heartbeat of the team,” Shelton said.

An endocrinologist can manage growth hormone treatment, which should begin within their first year of life. The treatment can enhance the child’s overall muscle tone and cognitive functioning, she added.

“Parents express a lot of relief when they come to our clinic, and they don’t have to provide education and act as experts.”

Others on a well-equipped care team for PWS include a sleep physician, a pediatric behavioral specialist, a nutritionist, and other specialists as needed, such as a gastroenterologist and orthopedist, Shelton said.

“Before they are started on growth hormone, they need a sleep study to make sure that they don’t have obstructive sleep apnea,” Shelton said. “And they need another sleep study done 8 to 12 weeks after starting the treatment, because growth hormone can cause tonsillar tissue hypertrophy leading to obstructive sleep apnea.” 

Serving the Whole Family

The Prader-Willi Syndrome Clinic is but one of many specialty clinics at Vanderbilt that provide a home base for families whose children have chronic, life-changing illnesses. These clinics offer both patients and their caregivers much-needed support.

Shelton and colleagues also have experience helping families whose children have sleep problems for other reasons, such as Down syndrome or Autism Spectrum Disorder.

Specialty clinics offer families essential advice on many matters.

“We have seen patients at our PWS clinic who were school age, whose parents tried to register them for school only to be told that their child had to be potty trained to come to school,” recalled Shelton, adding that before coming to the clinic, some of these parents were not aware of the Individuals with Disabilities Education Act which ensures that children and adolescents with disabilities are provided a free and appropriate public education. 

Relief at Being Understood

Families often become frustrated when a doctor tells them their child’s condition is unfamiliar

“Parents express a lot of relief when they come to our clinic, and they don’t have to provide education and act as experts.”