Reframing stigma in Tourette syndrome: an updated scoping review.

Persistent tic disorders (PTD) such as Tourette's syndrome (TS) are common childhood-onset neurodevelopmental disorders. Stigmatization of individuals with these disorders remains an ongoing problem. The purpose of this scoping review is to serve as an updated review of the research regarding stigmatization in youth with PTD since the publication of the original systematic review about this topic in 2016. The electronic databases Embase, Web of Science, PubMed, PsycINFO, and CINAHL were searched. Of the 4751 initial articles screened after removing duplications, 47 studies met the inclusion criteria. The studies were examined under the social-ecological stigmatization model, which helps categorize stigmatization into individual, interpersonal, community, and structural levels and serves as a broader definition of stigmatization than the previous systematic review. On the individual level, youth with PTD had lower self-esteem than peers, often leading to fear of future stigmatization, avoidant behaviors, and self-stigmatization. They also experienced higher rates of bullying and other forms of abuse than peers at the interpersonal level. At the community level, youth with PTD faced discriminatory environments in school and work and limited availability of community services and healthcare access. At the structural level, knowledge about PTD was limited in the general population, often about the limited portrayals of PTD in the media. We hope that the broader scope of this review serves to help inform future efforts to decrease the stigmatization faced by this group.

A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings.

BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad, including periodic paralysis, ventricular arrhythmias with associated prolonged QT interval and U waves, and dysmorphic facial and skeletal features. Pathogenic variants of the KCNJ2 gene are linked to ATS. METHODS: We present two siblings with the same pathogenic mutation and facial characteristic of hypotelorism, yet with intrafamilial and sex-specific variability. RESULTS: The first patient is a 16-year-old male who presented from an outside hospital with subacute-onset weakness. The symptoms almost completely subsided the following day, with only mild proximal muscle weakness. Magnetic resonance imaging of the brain and cervical spine was unremarkable. He had one prior attack of self-resolving weakness without apparent triggering factors and a history of premature ventricular contractions and U waves seen on electrocardiogram without cardiac symptoms. On further evaluation his physical examination was significant for micrognathia, hypotelorism, and clinodactyly. Electrodiagnostic examination showed no clear evidence of polyneuropathy. Given his presentation of the typical triad of periodic weakness, dysmorphic features, and cardiac rhythm abnormalities, genetic testing was pursued revealing a pathogenic mutation of the KCNJ2 gene, indicative of ATS. Subsequent genetic testing of his older biological sister, with identical physical features but without a history of cardiac symptoms or episodic periodic paralysis, revealed the same pathogenic mutation. CONCLUSIONS: It is essential to note that ATS can manifest with a wide range of symptoms and some individuals may display only subtle or atypical signs, contributing to this challenging diagnosis.

We Don't Talk About X(Twitter): A Cross-Sectional Analysis of Social Media Utilization Among Neurologists.

BACKGROUND AND OBJECTIVES: Medical professionals use social media for career development, education, clinical outreach, or advocacy. Prior studies estimate that 25% to 65% of health care providers use social media professionally; however, the number of users and platforms are rapidly changing. Therefore, as part of a broader study, we set out to assess platform preferences and social media usage among neurologists. METHODS: This was a multisite cross-sectional analysis consisting of a REDCap survey of clinicians, residents, and medical students. Faculty, trainees, or clinical year medical students interested in child neurology or adult neurology residency or fellowship programs within the United States were eligible to participate. Recruitment methods were broad to encompass as diverse and extensive participation as possible. Results were analyzed using descriptive statistics. Data are presented according to the STROBE guidelines. RESULTS: Of the 226 neurology respondents, 55% (n = 124) were child neurology and 45% (n = 102) were adult neurology across all career stages, including students. Of the 70% who reported using social media in a professional capacity, the most commonly reported reasons were for networking and collaboration (n = 95, 60%), self-directed medical learning (n = 90, 57%), and brand building and reputation (n = 62, 39%). Twitter and Facebook were the most common and versatile platforms used by neurologists. Medical students had the highest documentation of social media scholarships on their curriculum vitae (37%, P = .016) and the most interest (33%, P = .016) in learning how to document social media scholarships if they were not already. Early faculty shared this interest more than residents, fellows, or mid-late career faculty. In all groups except for mid-late career faculty, a majority of respondents (>75%) showed interest in learning how to leverage social media for career development. DISCUSSION: Social media is used professionally by a majority of neurologists, most commonly for networking, self-directed learning, and building individual brands. Opportunities exist to better understand platform preferences and ways to optimize their use for various professional activities as well as to provide education on effective professional use of social media including documentation for promotion.

Study protocol for measuring stigmatization in persistent tic disorders: development and validation of the Tourette discrimination-stigmatization scale.

Introduction: Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Experiencing stigmatization during childhood can influence the persistence of moderate-to-severe tics later in life. Additionally, these factors have been associated with increased suicidal ideation, suicide attempts, and psychiatric symptom severity. There is a need for interventions to reduce stigma and stigmatization in Persistent Tic Disorders. Before developing cost-effective interventions to mitigate stigma's profound downstream health impacts, a reliable measure of stigmatization must be created. The overarching goal of this research is to develop and validate the Tourette Discrimination-Stigmatization (TD-STIGMA) Scale. Methods: This paper presents the study protocol for developing and validating the TD-STIGMA Scale. The study is designed as a mixed methods study to develop the TD-STIGMA scale and evaluate its psychometric properties. The study uses a phased approach: (1) collection of narrative and thematic content data through in-depth qualitative interviews of stakeholders, (2) development of a novel TD-STIGMA self-report scale using the Delphi Method based on these results, and (3) completion of analyses to determine the scale's psychometric properties (confirmatory factor analysis, convergent, known-group, criterion validity, and test-retest reliability). Discussion: This project will result in a personalized approach to stigma measurement about youth and young adults with Persistent Tic Disorders, which to date does not exist. There are several limitations. Comorbidities or spiritual or cultural beliefs may affect perceptions of stigma and are not directly assessed in this study. We will utilize institutional resources for community outreach to purposefully sample underrepresented minorities who may be at disproportionate risk of adverse outcomes. However, this may not be fully representative of the generalized tic population. The study team will be purposeful in maintaining participant engagement for study retention. Lastly, participants from a tertiary referral center may not fully represent the generalized tic community. However, we hope our broad recruitment strategy and virtual study visits will facilitate a diverse and inclusive sampling of the patient population.

Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society.

BACKGROUND AND OBJECTIVES: Gender disparities have been demonstrated across several medical specialties, including neurology. Although women have comprised most of the child neurology trainees since 2007, it is not apparent whether this demographic shift is reflected in the Child Neurology Society (CNS) awards and leadership. This study aimed to evaluate the differences in gender representation among leadership positions and award recipients within the CNS. The primary outcome measure was the total number of board of director (BOD) positions or awards given by gender each year. METHODS: A retrospective review of publicly available data was conducted on CNS members, post-training award recipients, and BOD positions, including nomination records, from 1972 to 2023. Data abstracted were restricted to gender to preserve member and nominee anonymity. Gender identification and consensus were determined through a combination of strategies and study members. Data analysis included descriptive statistics, Pearson χ2 test, and the exact binomial test to compare gender proportions and the probability of being underrepresented in awards, leadership, and nominations over time. Data are presented according to the Strengthening the Reporting of Observational Studies in Epidemiology guidelines. RESULTS: From 1972 to 2023, women represented 29% (44/152) of the BOD positions and 26% (61/236) of post-training award recipients presented by the CNS. Despite the increase in the proportion of women in child neurology, the overall gap in gender representation in leadership positions remains broadly stable. Only 13% (4/32) of CNS presidents have been women, a significant underrepresentation (95% CI 2.3%-52%, p < 0.004), although the representation of women in nonpresidential positions increased from 2003 to 2023. Women are also underrepresented as overall awardees (95% CI 12%-38%, p < 0.00001) except for the Philip R. Dodge Young Investigator Award, which is an investigator-initiated application. DISCUSSION: Women remain underrepresented at the highest levels of recognition in child neurology despite representing most of the field. Reasons for disparities are known to be multifactorial and likely include gender bias and structural sexism. We present several discussion topics that seek to rationalize this disparity and provide suggestions for improving diversity, equity, and inclusion for leadership roles and awards.

SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report.

SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1. Given the rarity of SCN2A-associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A-associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxia lasting 4 months, cerebellar atrophy, and persistent mild ataxia with episodic exacerbations. Due to the patient's lack of early epilepsy, prolonged initial episode of ataxia, and cerebellar atrophy, this case broadens the scope of the SCN2A variant phenotype. SCN2A should be considered as a cause of early onset ataxia in children with targeted testing or as part of Whole Exome Sequencing (WES) in patients with new onset persistent or EA with or without seizures.

High-Yield, Case-Based, Interactive Workshop on Telehealth and Teleneurology With Pediatric Resident Physicians.

Introduction: Increasing prevalence of neurologic disorders with an aging global population and limited availability of neurologists may lead to worse patient outcomes. As a result of the COVID-19 pandemic, telehealth services surged, and despite easing public health measures, the demand has remained. Telehealth technology has the potential to close the physical gaps in expanding the reach of care. This academic half-day workshop sought to provide a learning opportunity in response to these concerns. Methods: The workshop consisted of small- and large-group case discussions among pediatric resident physicians (PGY 1-PGY 3) moderated by two child neurology faculty physicians over Zoom. Participants received a learner document with prereading articles and questions for each case. PowerPoint presentations with video demonstrations were used to introduce the cases and guide discussions. Results: Of the 25 attendees, 14 (56% response rate) answered a nonmandatory postsession survey. Eighty-six percent of the respondents were very or extremely satisfied with the content covered and were similarly satisfied with the effectiveness of content delivery. Seventy-nine percent of the respondents found the content helpful or very helpful in preparation for the board, and 93% anticipated applying the content covered occasionally or frequently in their clinical practice. Discussion: Small-group discussions with video demonstrations are helpful in increasing proficiency with telehealth technology and in examining board-relevant cases on pediatric patients. There is strong interest in subsequent telehealth half-day workshops that incorporate teaching through group discussions on relevant patient case scenarios.

Study protocol: A cross-sectional survey of clinicians to identify barriers to clinical practice guideline implementation in the assessment and treatment of persistent tic disorders.

INTRODUCTION: Eight members of the International Parkinson's Disease and Movement Disorders Society Tic and Tourette Syndrome Study Group formed a subcommittee to discuss further barriers to practice guideline implementation. Based on expert opinion and literature review, the consensus was that practice variations continue to be quite broad and that many barriers in different clinical settings might negatively influence the adoption of the American Academy of Neurology and the European Society for the Study of Tourette Syndrome published guidelines. OBJECTIVES: 1) To identify how clinical practices diverge from the existing American Academy of Neurology and European Society for the Study of Tourette Syndrome guidelines, and 2) to identify categories of barriers leading to these clinical care gaps. METHODS AND ANALYSIS: This article presents the methodology of a planned cross-sectional survey amongst healthcare professionals routinely involved in the clinical care of patients with persistent tic disorders, aimed at 1) identifying how practices diverge from the published guidelines; and 2) identifying categories of barriers leading to these clinical care gaps. Purposeful sampling methods are used to identify and recruit critical persistent tic disorders stakeholders. The analysis will use descriptive statistics.

Local Culture and Community Through a Digital Lens: Viewpoint on Designing and Implementing a Virtual Second Look Event for Residency Applicants.

BACKGROUND: The COVID-19 pandemic altered how residency interviews occur. Despite 2 years of web-based interviews, these are still perceived as inferior to in-person experiences. Showcasing a program and location is critical for recruitment; however, it is difficult to highlight the program's location and community digitally. This article presents the authors' viewpoints on designing and implementing a virtual second look for residency applicants. OBJECTIVE: Our objective was to host a web-based event to feature the benefits of living in Winston-Salem, North Carolina, for residency applicants, enhance recruitment efforts, and ensure a successful residency match. The goal was to cover topics that interested all applicants, highlight how Winston-Salem is a special place to live, involve current residents, and engage community members. METHODS: Three programs-child neurology, neurology, and family medicine were chosen for a pilot virtual second look. All residency program directors' were asked to recommend community contacts and help identify residents and faculty who may serve as content experts on one of the topics in the panel discussions. A total of 24 community leaders from restaurants, venues, schools, and businesses were contacted, and 18 agreed to participate. The panel discussions included living in and raising a family in Winston-Salem, experiencing Winston-Salem arts and music, where to eat and drink like a local, and enjoying sports and outdoors in the area. The 2-hour event was hosted on Zoom. Postevent feedback assessments were automatically sent to each registrant through Research Electronic Data Capture (REDCap). This study was deemed exempt from Wake Forest University Health Sciences institutional review board review (IRB00088703). RESULTS: There were 51 registrants for the event, and 28 of 48 registrants provided postevent feedback, which was positive. The authors found in the MATCH residency results that 2 of 2 child neurology positions, 4 of 6 adult neurology positions, and 1 of 10 family medicine positions attended our second look event. One adult neurology resident who did not participate was an internal candidate. All respondents agreed or strongly agreed that the session was valuable, well organized, and met their expectations or goals. Furthermore, all respondents gained new information during this web-based event not obtained during their interview day. CONCLUSIONS: The virtual second look event for residency attendees featured the benefits of living in Winston-Salem, and the perspectives of current residents. Feedback from the session was overall positive; however, a top desire would be devoting more time for the applicants to ask questions directly to the community leaders and our resident trainees. This program could be reproducible by other institutions. It could be broadened to a graduate medical education-wide virtual second look event where all medical and surgical programs could opt to participate, facilitating an equitable opportunity for prospective applicants.