Executive Function and Adaptive Behavior in Muenke Syndrome

• Published in: The Journal of pediatrics Vol. 167; no. 2; pp. 428 - 434
• Main Authors: Yarnell, Colin M.P., Addissie, Yonit A., Hadley, Donald W., Guillen Sacoto, Maria J., Agochukwu, Nneamaka B., Hart, Rachel A., Wiggs, Edythe A., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Schweitzer, Tilmann, Kruszka, Paul, Muenke, Maximilian
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2015
• Subjects: 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; Pediatrics; Risk Factors; Siblings; Young Adult; GAC; ADHD; BRIEF; FSIQ; GEC; ABAS-II; Behavior Rating Inventory of Executive Function; Full-scale IQ; Attention deficit hyperactivity disorder; Global Adaptive Composite; Adaptive Behavior Assessment System, Second Edition; Global Executive Composite
• ISSN: 0022-3476; 1097-6833; 1097-6833
• DOI: 10.1016/j.jpeds.2015.04.080

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