Executive Function and Adaptive Behavior in Muenke Syndrome

J Pediatr. 2015 Aug;167(2):428-34. doi: 10.1016/j.jpeds.2015.04.080. Epub 2015 May 28.

Abstract

Objective: To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls.

Study design: Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. Participants completed validated assessments of executive functioning (Behavior Rating Inventory of Executive Function [BRIEF]) and adaptive behavior skills (Adaptive Behavior Assessment System, Second Edition [ABAS-II]).

Results: Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years). For the General Executive Composite scale of the BRIEF, 32.1% of the cohort had scores greater than +1.5 SD, signifying potential clinical significance. For the General Adaptive Composite of the ABAS-II, 28.2% of affected individuals scored in the 3rd-8th percentile of the normative population, and 56.4% were below the average category (<25th percentile). Multiple regression analysis did not identify craniosynostosis as a predictor of BRIEF (P = .70) or ABAS-II scores (P = .70). In the sibling pair analysis, affected siblings performed significantly poorer on the BRIEF General Executive Composite and the ABAS-II General Adaptive Composite.

Conclusion: Individuals with Muenke syndrome are at an increased risk for developing adaptive and executive function behavioral changes compared with a normative population and unaffected siblings.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adaptation, Psychological*
  • Adolescent
  • Adult
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cohort Studies
  • Craniosynostoses / complications
  • Craniosynostoses / psychology*
  • Craniosynostoses / surgery
  • Cross-Sectional Studies
  • Executive Function*
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Risk Factors
  • Siblings
  • Young Adult

Supplementary concepts

  • Muenke Syndrome