Assessing Psychiatric Comorbidity and Pharmacologic Treatment Patterns Among Patients With Neurofibromatosis Type 1

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., secondgeneration antipsychotics).

Pediatric Patient With Neurofibromatosis I Presenting With Perceptual Disturbances and a Suicide Attempt

“…In adult patients with neurofibromatosis, 46.5% were found to have at least one psychiatric comorbid diagnosis, most commonly mood disorders and anxiety disorders, as opposed to 20% of the general population [13]. NF1 is a complex and multisystem neurocutaneous disorder that can cause neuronal disturbances, leading to psychosis, which can be expressed through auditory and visual hallucinations [14].…”

Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1

“…Improvement of the QoL and emotional status of NF1 individuals is a critical unmet need. Several articles have shown a clear benefit for NF1 individuals to perform face-to-face [39] or online [40] mind-bodybased interventions which can be associated or not with pharmacological treatments [41] to improve their emotional status and QoL. Recently, a Relaxation Response Resiliency Program (3RP-NF) including mindfulness, copying, and optimism interventions has shown a durable improvement in QoL among adults with NF1 [42,43].…”

Seizure freedom with vagus nerve stimulation in neurofibromatosis type 1: A case report

“…Although efficacy of adjunctive VNS therapy in refractory epilepsy has been well documented, only 8.0% of patients achieve seizure freedom (10), which is the case with our patient. Furthermore, it has been shown that VNS has a positive effect on depressive symptoms in patients with epilepsy (11) and that could provide a second-ary benefit of its utility in neurofibromatosis, considering that depression is a frequent comorbidity in these patients (12).…”