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Related Experiment Video

Updated: Dec 12, 2025

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Behavior and cognitive functioning in Witteveen-Kolk syndrome.

Linde C M van Dongen1,2,3, Ellen Wingbermühle1,2,3,4, Alexander J M Dingemans3

  • 1Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

American Journal of Medical Genetics. Part A
|August 13, 2020
PubMed
Summary

Witteveen-Kolk syndrome (WITKOS), a neurodevelopmental disorder caused by SIN3A mutations, presents with cognitive impairments and behavioral issues. This study details the neurocognitive profiles and social-emotional vulnerabilities in affected individuals, offering insights for intervention.

Keywords:
SIN3AWitteveen-Kolk syndromecase-seriescognitioncontextual neuropsychologyneurodevelopmental disorder

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Psychology

Background:

  • Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder linked to SIN3A gene dysfunction.
  • WITKOS is characterized by intellectual disability, distinctive facial features, and short stature.
  • Previous observations suggested potential links to Autism Spectrum Disorders (ASD), ADHD, and obsessive-compulsive behaviors.

Observation:

  • This study investigated neurocognitive functioning in five individuals (aged 10-23) with WITKOS.
  • Data included medical records and comprehensive neuropsychological assessments.
  • Developmental trajectories and neurocognitive profiles were systematically analyzed.

Findings:

  • Medical records indicated early developmental issues resembling ASD or ADHD, with later onset of sleep and internalizing problems.
  • Cognitive assessments revealed a spectrum of intellectual functioning, from profound to average intelligence.
  • All participants exhibited deficits in information processing speed and sustained attention, with planning and organizational difficulties noted in some.

Implications:

  • Parental reports highlighted significant challenges in social functioning.
  • Findings underscore the need for tailored counseling and interventions addressing cognitive and social-emotional vulnerabilities in WITKOS.
  • Understanding these profiles is crucial for supporting individuals with WITKOS throughout their development.