Abstract
Background and objectiveNeurofibromatosis 1 (NF1) is a genetic disorder that is accompanied by psychiatric comorbidities such as depression, anxiety, and attention-deficit hyperactivity disorder (ADHD) in more than half of the patients. However, there are limited data describing optimal treatment strategies for these conditions. This study aimed to address that gap in understanding and explore the neurobiological basis of psychiatric comorbidities in NF1.Materials and methodsA retrospective cohort study was conducted among NF1 patients with a comorbid diagnosis of depression, anxiety, and/or ADHD. These disease states were chosen based on their relatively high reported prevalence in NF1 and shared pathophysiological mechanisms via monoaminergic dysfunction. Information regarding demographics, psychotherapeutic medication use, and clinical outcomes was gathered from electronic medical records. Relationships between patient- and medication-related factors and outcome measures were assessed using statistical analysis.ResultsThe study population (n = 82) consisted of NF1 patients with a comorbid diagnosis of depression (76.8%), anxiety (53.7%), and/or ADHD (23.2%). The use of second-generation antipsychotic agent augmentation therapy or hydroxyzine monotherapy was associated with significantly more behavioral health (BH)-related emergency department (ED) visits, admissions, and inpatient days in the study population. Conversely, the use of bupropion augmentation therapy, buspirone augmentation therapy, and stimulants was associated with improved clinical outcomes, though these results were not statistically significant.ConclusionsBased on our findings in this real-world study setting, patients with NF1 and psychiatric comorbidities appear to experience significant benefits from medications that enhance dopaminergic neurotransmission (e.g., bupropion, stimulants) when compared to drugs that oppose it (e.g., second-generation antipsychotics).
Highlights
A retrospective cohort study was conducted among Neurofibromatosis type 1 (NF1) patients with a comorbid diagnosis of depression, anxiety, and/or attention-deficit hyperactivity disorder (ADHD)
The use of second-generation antipsychotic agent augmentation therapy or hydroxyzine monotherapy was associated with significantly more behavioral health (BH)-related emergency department (ED) visits, admissions, and inpatient days in the study population
Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder arising from a mutation in the gene encoding neurofibromin, a tumor suppressor protein involved in activating the RasGAP pathway, which regulates cell growth and differentiation [1,2]
Summary
Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder arising from a mutation in the gene encoding neurofibromin, a tumor suppressor protein involved in activating the RasGAP pathway, which regulates cell growth and differentiation [1,2]. Quality of life and psychosocial functioning are notably impaired in patients with NF1 [5,6] This patient population has a higher rate of behavioral and emotional dysfunction [7,8,9], as well as certain psychiatric disorders [10,11]. Attention deficit hyperactivity disorder (ADHD) has been observed in 38-49% of patients with NF1 [12,16,17,18] and can cause significant functional impairment [19]. Neurofibromatosis 1 (NF1) is a genetic disorder that is accompanied by psychiatric comorbidities such as depression, anxiety, and attention-deficit hyperactivity disorder (ADHD) in more than half of the patients.
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