Objective:

To investigate neuropsychiatric diagnoses in a cohort of patients with Neurofibromatosis type 1 (NF1) and compare it to other pediatric populations.

Background:

Neurofibromatosis type 1 (NF1) is a genetic condition which results in nervous system tumors as well as skin pigmentation. NF1 has been linked to numerous psychiatric disorders, although the rate at which these disorders are diagnosed in real-world healthcare settings remains unclear.

Design/Methods:

Utilizing the TriNetX research network, the NF1 cohort was defined as patients under 18 years of age with a diagnosis of NF1. The general pediatric population cohort consisted of patients under 18 years of age with a healthcare visit in the database. Other comparator cohorts consisted of pediatric patients diagnosed with Neurofibromatosis Type 2 (NF2), migraine, and muscular dystrophy and were matched with the NF1 cohort on demographic characteristics. Outcomes included Attention-deficit/hyperactivity disorder (ADHD), conduct disorders, autistic disorder, anxiety, bipolar disorder, depression, and intellectual disabilities.

Results:

Conclusions:

Compared to the general pediatric population, patients with NF1 experience a greater psychiatric comorbidity burden. Patients with NF1 are also more likely to be diagnosed with ADHD when compared to other conditions such as migraines and muscular dystrophy.