Comprehensive approach of executive functions in children with neurofibromatosis type 1.

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).