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Executive Function and Adaptive Behavior in Muenke Syndrome.

Colin M P Yarnell1, Yonit A Addissie1, Donald W Hadley1

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

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Individuals with Muenke syndrome show higher risks for executive function and adaptive behavior changes. This study compared them to normative groups and unaffected siblings, finding significant differences.

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Area of Science:

  • Neurodevelopmental disorders
  • Genetics and rare diseases

Background:

  • Muenke syndrome is a genetic disorder associated with FGFR3 mutations.
  • Executive function and adaptive behaviors are crucial for daily functioning.

Purpose of the Study:

  • To assess executive function and adaptive behavior in Muenke syndrome.
  • To compare individuals with Muenke syndrome to unaffected siblings and normative data.

Main Methods:

  • Cross-sectional study design.
  • Inclusion of individuals with Muenke syndrome (FGFR3 P250R mutation) and mutation-negative siblings.
  • Utilized the Behavior Rating Inventory of Executive Function (BRIEF) and Adaptive Behavior Assessment System, Second Edition (ABAS-II).

Main Results:

  • 32.1% of Muenke syndrome individuals had clinically significant executive function concerns (BRIEF).
  • 56.4% of affected individuals scored below average in adaptive behavior (ABAS-II).
  • Affected siblings performed significantly worse on executive function and adaptive behavior compared to their unaffected siblings.

Conclusions:

  • Individuals with Muenke syndrome face elevated risks for behavioral changes in executive function and adaptive skills.
  • These findings highlight the need for targeted support and interventions for individuals with Muenke syndrome.