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Abstract Details

Neuropsychiatric Diagnoses Associated with Neurofibromatosis Type 1 in the TriNetX Research Network
Neuro-oncology
P9 - Poster Session 9 (11:45 AM-12:45 PM)
6-004
To investigate neuropsychiatric diagnoses in a cohort of patients with Neurofibromatosis type 1 (NF1) and compare it to other pediatric populations.
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.
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.

Compared to the general pediatric population cohort (n = 19,121,877), the NF1 cohort (n = 11,241) had a higher relative risk (RR) for all conditions assessed. The NF1 cohort had higher risks of ADHD (RR: 1.88, CI: 1.74 - 2.02), conduct disorders (RR: 1.55, CI: 1.36 - 1.77), autistic disorder (RR: 1.59, CI: 1.42 - 1.79), and intellectual disabilities (RR: 3.109, CI: 2.53 - 3.82) compared to the migraine cohort (n = 10,702). The NF1 cohort had higher risk of ADHD (RR: 1.92, CI: 1.76 - 2.10) compared to the muscular dystrophy cohort (n = 7,817).

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.
Authors/Disclosures
Stephanie L. Bissonnette, DO
PRESENTER
The institution of Dr. Bissonnette has received research support from SAGE Therapeutics. The institution of Dr. Bissonnette has received research support from Huntington's Disease Society of America. The institution of Dr. Bissonnette has received research support from CHDI Foundation.
Aashish Batheja Mr. Batheja has nothing to disclose.
Brian Cassel, PhD Prof. Cassel has nothing to disclose.