Executive Function and Adaptive Behavior in Muenke Syndrome

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.