To evaluate current assessment practices for cognitive, behavioral, and neurodevelopmental domains in pediatric Neurofibromatosis type 1 (NF1), emphasizing the need for standardized assessments.
Key Findings:
84 studies met inclusion criteria, exploring 35 domains.
Cognitive functioning, executive functioning, behavior, and attention were the most frequently assessed domains.
Over 110 assessment tools were utilized, with a significant reliance on symptom rating scales rather than validated diagnostic instruments, raising concerns about diagnostic accuracy.
52.4% of studies focused on children aged 6 years or older, indicating underrepresentation of preschool-aged children.
Interpretation:
Current assessment practices in pediatric NF1 are inconsistent and often overlook early developmental stages, highlighting the urgent need for standardized tools and early screening.
Limitations:
Heterogeneity in assessment practices limits comparability and may affect clinical outcomes.
Underrepresentation of younger children restricts early identification opportunities.
Conclusion:
Standardized, age-appropriate assessment tools and interdisciplinary approaches are essential for improving detection and management of NF1-related neurocognitive issues, addressing the urgent need for better practices.
by Andrea Santangelo, Alessandra Sardi, Luca Bergonzini, Ilaria Luongo, Federica Mela, Salvatore De Pasquale, Ilaria Cecconi, Maria Stella Vari, Duccio Maria Cordelli, Maria Cristina Diana, Pasquale Striano
Phoenix Children’s, one of the top-ranked pediatric health systems in the West, announced that Dannah Raz, MD, MPH, division chief of developmental and behavioral pediatrics, has been named to Modern Healthcare’s 40 Under 40 for 2026
