Saturday, July 3, 2010

Prader-Willi - Insatiable Hunger

Since entering the blogging world of special needs a little over a year ago I have seen the diagnosis Prader-Willi Syndrome (PWS) mentioned a few times, but did not know what it meant. It is a relatively rare genetic disorder, occurring approximately every 1 in 15,000 births. It occurs equally between females and males and in all races. The genetic abnormality results from some missing DNA on the 15th chromosome. These genes are normally contributed by the father, but 70% of cases occur as a non-inherited deletion (random or sporadic deletion). Common symptoms include low muscle tone (hypotonia), short stature, incomplete sexual development and metabolic issues. The classic baby born with PWS has low birth weight and poor sucking ability, leading to a failure to thrive. This is generally thought to be related to poor oral motor development. Then between the ages of two to five the poor feeding is turned on its head and becomes an insatiable hunger (hyperphagia). These children are literally always hungry, and because of an inefficient metabolism (low muscle content) food intake must be closely monitored to avoid life-threatening obesity. Often the kitchen and other food storage areas must be locked to control intake. Older individuals with PWS can often control their weight better by living in a group home where food access is restricted. PWS is the most common genetic cause of childhood obesity. If a doctor suspects PWS, genetic testing can confirm the diagnosis. Related conditions include motor skill delays, behavior problems, social delays, learning differences, and other medical issues.

 Abnormal hypothalamus activity is thought to cause the compulsive eating in PWS. To date there is no medication or surgery to address this facet of PWS. Usually with the onset of hyperphagia behavioral issues also surface, although they are not necessarily food-related. Transitions and surprises are challenging and met with tantrums, obsessive-compulsive tendencies, or perseverative activities. Other symptoms of PWS are treated with growth hormone. Hormone treatment can reduce the impact of muscle weakness and decreased stature.

To learn more, check out and medical home portal
Some blogs by parents of children with Prader-Willi:
Diving Into the Waves
Finding Joy in Simple Things


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