Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Background Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze the rates of TAND symptoms in a cohort of patients seen at the TSC Center of Excellence at Cincinnati Children’s Hospital and to identify clinically meaningful profiles based on TAND symptoms. Methods Data from the TAND Checklist was obtained from participants seen at the TSC Center of Excellence at Cincinnati Children’s Hospital Medical Center from June 2015 to August 2018. Cluster and factor analyses for each TAND symptom were performed. Factor scores were then calculated for participants, and a K-means cluster analysis of these scores was used to empirically identify distinct overall TAND symptom profiles occurring in TSC. Results A total of 1545 checklists was completed for 668 participants (37% adults and 63% children). Approximately 90% of participants reported at least one TAND symptom with an average of 12 symptoms (out of 29). Symptom rates ranged between 5 and 60%. The most common symptoms were neuropsychologic symptoms. A seven-cluster and seven-factor solution were found to be optimal. K-means cluster analysis resulted in a seven-profile solution, ranging from low to high symptom burden. Conclusion This study is the first to identify natural phenotypic profiles of TAND symptoms. Study of specific TAND subpopulations with shared profiles may facilitate better understanding of the underlying biology of TAND and better assessment of more targeted treatments.

A survey of personnel and services offered in 32 outpatient US clozapine clinics

Background Clozapine clinics can facilitate greater access to clozapine, but there is a paucity of data on their structure in the US. Methods A 23-item survey was administered to participants recruited from the SMI Adviser Clozapine Center of Excellence listserv to understand characteristics of clozapine clinics. Results Clozapine clinics (N = 32) had a median caseload of 45 (IQR = 21–88) patients and utilized a median of 5 (IQR = 4–6) interdisciplinary roles. The most common roles included psychiatrists (100%), pharmacists (65.6%), nurses (65.6%), psychiatric nurse practitioners (53.1%), and case managers (53.1%). The majority of clinics outreached to patients who were overdue for labs (78.1%) and had access to on-site phlebotomy (62.5%). Less than half had on call services (46.9%). Conclusions In this first systematic description of clozapine clinics in the US, there was variation in the size, staffing, and services offered. These findings may serve as a window into configurations of clozapine teams.

From Margins to Mainstream: Creating a Rural-Based Center of Excellence in Transgender Health for Upstate, New York

Transgender people face many barriers to healthcare, especially in rural America. The work to decrease barriers to care and address health care disparities for this population meets criteria for a wicked problem, each of which is unique and has no clear solution. The barriers are related to the individual and society and are both formal and informal. The definition for a Center of Excellence in healthcare is loose, but these organizations aspire to serve as specialized programs that offer comprehensive, interdisciplinary expertise and resources within a medical field to improve patient outcomes. With funding and leadership training from the Robert Wood Johnson Clinical Scholars program, a group of medical and mental health clinicians worked for three years with the goal of creating a Rural-Based Center of Excellence in Transgender Health embedded within a family practice to approach the wicked problem of transgender healthcare in their region. The goals of the center were six pronged: the provision of competent and affirming medical, surgical and mental health services, training for healthcare professional students, medical-legal advocacy and patient-centered research. The team created a strategic plan, with five strategic directions, including 1) developing infrastructure and organizational capacity, 2) expanding awareness, knowledge and skills, 3) fulfilling staffing needs, 4) ensuring gender-affirming care, and 5) advancing evidence-based care. I describe our work to bring transgender health from the margins to the mainstream for our region through implementation of this strategic plan.