Background: Neurofibromatosis 1 (NF1) is a rare, neurogenetic disorder predisposing individuals to central and peripheral nervous system tumors, as well as a wide range of other physical, neurocognitive, and psychosocial issues. Regular health monitoring throughout the lifespan is needed to identify these heterogenous disease complications, but the degree to which this is implemented in routine clinical practice is unknown. This, this study aimed to investigate U.S. patients access to specialized NF1 clinics and receipt of evidence-informed health surveillance. Methods: An online cross-sectional survey was distributed in May 2021 to adults with NF1 and parents of children with NF1 enrolled in the NF Registry (n=6908). Rate of NF1 clinic attendance and self-reported receipt of health surveillance amongst all NF Registry participants was estimated using inverse propensity scores. Differences in these outcomes based on participant demographics were assessed using weighted logistic regression and robust linear regression, respectively. Results: 322 individuals responded (160 adults, 162 parents; 4.7% overall response rate). We estimate that 51.7% of children and 35.6% of adults attend NF1 clinics. Younger children were more likely to attend an NF1 clinic, as were adults living in urban areas, with a college degree or higher, or with a household income ≥$130,000 (all ps<0.05). Completion rates for each individual health surveillance evaluation ranged from 41%-79% for children and 33%-61% for adults. Higher rates of recommended evaluations were reported by both adults and children who attend a specialized NF1 clinic, non-Hispanic White adults, and adults with commercial or Medicare insurance (all ps<0.05). Discussion: Adults with NF1 experience significant sociodemographic disparities in care, and patients of all ages attending NF1 specialty clinics receive more recommended health surveillance. Given the limited access to specialty NF clinics, quality improvement efforts are needed to increase access for underserved adults and improve provision of recommended health surveillance outside specialty clinics.
