Comprehensive approach of executive functions in children with neurofibromatosis type 1.
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OBJECTIVE: Neurofibromatosis type 1 (NF1) is a genetic disorder marked by a range of clinical symptoms, including neurocognitive deficits, particularly in executive functions (EF), which are crucial for adaptive behavior. This study aimed to comprehensively evaluate core EF domains-such as inhibition, working memory, cognitive flexibility, and planning-in children with NF1 using the Child Executive Functions Battery (CEF-B). Additionally, it compared these findings with parent and teacher evaluations from the Behavior Rating Inventory of Executive Function (BRIEF) and examined the role of attention deficit hyperactivity disorder (ADHD). METHOD: Sixty-four children with NF1, aged 7-16 years (M = 10.20, SD = 2.11), were recruited from a university hospital's NF1 referral center between May 2013 and March 2016. The children completed the CEF-B, with results compared to normative data via t tests. Parents and teachers provided BRIEF assessments. RESULTS: Significant EF deficits were observed across all CEF-B components, and both parents and teachers reported substantial EF difficulties. Cohen's kappa indicated mild to moderate agreement between CEF-B and BRIEF scores (κ = -0.11-0.63). ADHD did not affect CEF-B performance, but children with ADHD were rated as having greater difficulties on the BRIEF than those without ADHD. CONCLUSIONS: NF1 significantly impairs EF across all domains in children, with most showing multiple concurrent EF impairments. These deficits appear to be partially independent of ADHD comorbidity. The CEF-B showed greater sensitivity than questionnaires in detecting EF deficits in NF1, but both performance-based assessments and real-world evaluations are necessary for a comprehensive understanding of these impairments. (PsycInfo Database Record (c) 2025 APA, all rights reserved).