To measure the delivery of NF1 care provided in concordance with published recommendations, as reported by patients and caregivers.

We previously published data showing gaps in clinician awareness and agreement with published clinical care recommendations for neurofibromatosis type 1 (NF1). To date, no data exist on the delivery of those care recommendations to patients.

An electronic survey was sent to US-based NF1 patients and caregivers enrolled in the Children’s Tumor Foundation NF Registry in May 2021. Survey topics included demographics, NF care location, and self-reported clinical care received. Weighted analyses were performed to account for differences between respondents and registry populations. The primary outcome was the number of NF1 care recommendations delivered in the last year out of six recommendations for adults and five recommendations for children.

Responses were received from 160 adult patients and 162 pediatric patient caregivers (4.7% overall response rate). Respondents were 42% male, and mean age was 43.8 years for adult and 7.5 years for pediatric participants. Using inverse propensity score reweighting, 8.2% of adults and 22.7% of children received all care recommendations in the prior year. Factors impacting the number of care recommendations delivered included receiving care at an NF Clinic Network (NFCN) affiliate clinic (adults p=0.0002, pediatrics p=0.026), NF clinic evaluation within last one year (p<0.0001 for adults and pediatrics), and Medicaid insurance (compared to commercial) in adults (p=0.037).

We identified gaps in care across both groups, though most pronounced in adults with NF1. Importantly, seeing one’s NF care team within the last year and attending an NFCN affiliate clinic were strongly associated with receiving more of the care recommendations. This work emphasizes the urgent need to strengthen adult NF1 care in the US, to update and educate clinicians about published recommendations, and to empower patients and caregivers to advocate for their own care.