What is the prevalence of seizures in Prader-Willi syndrome?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Prader-Willi syndrome is most frequently (70%) caused by a deletion in the paternal inherited portion of chromosome 15q11.2-q13. The remainder of cases are caused by maternal uniparental disomy of chromosome 15, complex chromosomal rearrangements, or defects in specific imprinting centers.

Patients with Prader-Willi syndrome have neonatal hypotonia and failure to thrive during infancy. Patients have hyperphagia, and onset of weight gain occurs between age 1 and 6 years. Affected individuals also have mild-moderate intellectual impairment, hypogonadism, and characteristic facies consisting of a narrow bifrontal diameter, almond-shaped eyes, a round face, and downturned corners of the mouth. Hands and feet will tend to be small for size. Seizures occur in approximately 10-20% of patients.


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