Clinical Report: Cognitive Assessment Practices in Pediatric Neurofibromatosis Type 1

Overview

This systematic review of 84 studies highlights that cognitive, executive, behavioral, and attentional domains are most frequently assessed in children with NF1, yet over half of studies focus on children aged 6 years or older. Assessment methods are heterogeneous, with limited use of validated diagnostic tools for neurodevelopmental disorders and underrepresentation of early childhood evaluations.

Background

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder characterized by tumor-related manifestations and a high prevalence of cognitive, behavioral, and neurodevelopmental difficulties affecting up to 70% of pediatric patients. These difficulties span multiple domains including attention, executive function, and language, with increased rates of ADHD and autism spectrum disorder. Despite the clinical significance, neuropsychological assessment practices in NF1 are inconsistent, lacking standardized approaches and early developmental screening, which limits early identification and intervention opportunities.

Data Highlights

Over 110 different assessment tools were used, including Wechsler Intelligence Scales, BRIEF, CBCL, and Conners Rating Scales. Only 52.4% of studies included children under 6 years, indicating underrepresentation of preschool-aged children.

Key Findings

• Neuropsychological assessments in pediatric NF1 are highly heterogeneous, with no standardized framework.
• Cognitive, executive, behavioral, and attention domains are the most frequently evaluated.
• More than half of studies focus on children aged 6 years or older, limiting early developmental assessment.
• Validated diagnostic instruments for ASD and ADHD (e.g., ADOS-2, ADI-R, K-SADS) are rarely used; symptom rating scales predominate.
• Early neurodevelopmental screening and interdisciplinary approaches are underutilized but recommended.
• A shared assessment framework is needed to improve clinical care and research comparability.

Clinical Implications

Clinicians should incorporate standardized, age-appropriate cognitive and behavioral assessment tools early in childhood to enable timely identification of neurodevelopmental challenges in NF1. Utilizing validated diagnostic instruments alongside symptom rating scales can improve diagnostic accuracy for comorbid conditions such as ASD and ADHD. Interdisciplinary collaboration, including neuropsychomotor therapists, is essential to optimize management of NF1-related neurocognitive phenotypes.

Conclusion

Current cognitive assessment practices in pediatric NF1 are inconsistent and often neglect early developmental stages. Establishing a shared, standardized framework with early screening and interdisciplinary involvement is critical to enhance detection, management, and research comparability of NF1-associated neurocognitive difficulties.

References

1. Systematic Review CRD420251119558 -- Is Cognitive Assessment in Neurofibromatosis Type 1 Still Considered Optional?