title: Executive Function and Adaptive Behavior in Muenke Syndrome.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Colin M P
authors.initials: CM
authors.lastname: Yarnell
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Yonit A
authors.initials: YA
authors.lastname: Addissie
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Donald W
authors.initials: DW
authors.lastname: Hadley
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Guillen Sacoto
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Nneamaka B
authors.initials: NB
authors.lastname: Agochukwu
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Hart
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Edythe A
authors.initials: EA
authors.lastname: Wiggs
authors.affiliation: Department of Psychology I, Institute of Psychology, University of Würzburg, Würzburg, Germany.
authors.forename: Petra
authors.initials: P
authors.lastname: Platte
authors.affiliation: Department of Psychology I, Institute of Psychology, University of Würzburg, Würzburg, Germany.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Paelecke
authors.affiliation: Section of Pediatric Neurosurgery, Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Hartmut
authors.initials: H
authors.lastname: Collmann
authors.affiliation: Department of Orthodontics, University Hospital of Würzburg, Würzburg, Germany.
authors.forename: Tilmann
authors.initials: T
authors.lastname: Schweitzer
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Paul
authors.initials: P
authors.lastname: Kruszka
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003398:Craniosynostoses / Q000150:complications / Q000523:psychology* / Q000601:surgery; D003430:Cross-Sectional Studies; D056344:Executive Function; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D035781:Siblings; D055815:Young Adult