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Cognitive dysfunction in adults with Van der Woude syndrome.

Peg Nopoulos1, Lynn Richman, Nancy Andreasen

  • 1Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA. peggy-nopoulos@uiowa.edu

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 18, 2007
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Summary

Adults with Van der Woude syndrome exhibit cognitive deficits, particularly in executive function. Males with this condition show more severe impairments in intelligence and verbal fluency compared to females.

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Area of Science:

  • Neurodevelopmental disorders
  • Genetics
  • Cognitive psychology

Background:

  • Van der Woude syndrome is an autosomal dominant disorder characterized by cleft lip/palate and lip pits.
  • Phenotypic and genotypic similarities exist between Van der Woude syndrome and isolated cleft lip/palate.
  • Cognitive dysfunction has been observed in individuals with isolated cleft lip/palate.

Purpose of the Study:

  • To evaluate the cognitive function patterns in adults diagnosed with Van der Woude syndrome.
  • To compare cognitive performance in Van der Woude syndrome patients with age- and gender-matched controls.

Main Methods:

  • A cohort of 14 adults with Van der Woude syndrome participated.
  • A comprehensive battery of cognitive tests was administered.
  • Tests assessed general intelligence (IQ) and specific cognitive functions.

Main Results:

  • All Van der Woude syndrome subjects demonstrated executive function deficits.
  • Males with Van der Woude syndrome scored significantly lower on intelligence measures and verbal fluency tasks compared to controls.
  • A notable gender effect indicated more severe cognitive impairments in males.

Conclusions:

  • Cognitive function in Van der Woude syndrome mirrors patterns seen in isolated cleft lip/palate.
  • The study highlights a significant gender disparity, with males being more affected.
  • Findings support a neurodevelopmental etiology for cognitive deficits in both conditions.