Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder present in 1 out of every 2662 births. It is associated with the formation of glial tumors across the central and peripheral nervous system, as well as a greater susceptibility to neurodevelopmental disorders.

Approximately 10-30% of patients meet criteria for autism spectrum disorder (ASD), while up to half are affected by attention-deficit/hyperactivity disorder (ADHD). Thus, understanding NF1 brain growth trajectories and their relationship to pathology is important to inform clinical care for this population. However, significant age-related gaps persist in the literature, particularly in early childhood (ages 1-4). Leveraging the large NF1 patient population at CHOP, we address these gaps through two aims:

Aim 1: Compare NF1 brain growth trajectories (ages 0-21) to our normative Scans with Limited Imaging Pathology (SLIP) cohort, using centile scores, with the long-term goal of developing NF1-specific growth charts.

Aim 2: Characterize the prevalence of ASD and ADHD diagnosis in our NF1 population, and quantity radiology-reported pathologies in Grade 1 scans (mild/moderate pathology).