Stigmatization refers to labeling or linking to undesirable features, which creates beliefs that a person is fundamentally different (Andersen, 1986; Link and Phelan, 2001). Justifications are constructed for these stigmatizing actions toward others (Link and Phelan, 2001). Stigmatization can range from microaggressions, biases, and purposeful exclusion, while discrimination (also called enacted or experienced stigmatization) (Fernandes et al., 2011; Brohan et al., 2013) can be overt. The National Alliance on Mental Illness argues that the scope of stigmatization needs to encompass discrimination to adequately represent the negative impact of stereotypes these individuals experience (Sue Abderholden, 2019). Otherwise, it is easy to overlook the more distal behavioral effects when assessing the impact of stigma (Link and Phelan, 2001).

However, stigmatization depends on social-ecological factors that create and perpetuate the labeling of stigma in the first place (Link and Phelan, 2001). The social-ecological model (SEM) has been used to model stigmatization in several other healthcare populations (Parker and Aggleton, 2003; Baral et al., 2013; White Hughto et al., 2015; Stangl et al., 2019). A SEM-based approach (Figure 1) derived from prior medical models of stigma (Parker and Aggleton, 2003; Baral et al., 2013; White Hughto et al., 2015; Stangl et al., 2019; Michaels, 2022) can help delineate factors contributing to stigmatization in PTD/TS. According to Link and Phelan’s theory, interventions that only target one mechanism leave the broader context untouched and are likely to fail (Link and Phelan, 2001). This is especially important in the context of interventions geared to prevent stigmatization. The SEM-based approach guides the development of a disorder-specific, comprehensive, relevant framework (Link and Phelan, 2001; White Hughto et al., 2015; Stangl et al., 2019). Globally, programs have been developed to diminish mental health-related stigmatization. However, stigma-related research remains limited by a lack of direct stigma measurements, limited validated youth measures (McKeague et al., 2015; Kaushik et al., 2017), proxy reports (Conelea et al., 2011), and non-validated questionnaires (Debes et al., 2010).

To face hardships, ITS requires resilience by harnessing resources to sustain well-being. The National Institute of Health (NIH) announced well-being as a 2023 funding priority (Mroczek et al., 2015), recognizing the potential impact of interventions focusing on well-being to improve health outcomes (Mroczek et al., 2015; Pressman et al., 2019; Villanueva et al., 2021). The NIH established a cohesive framework for well-being, defining emotional well-being as “how positive an individual feels generally and about life overall. It includes experiential features (emotional quality of experiences) and reflective features (life satisfaction, meaning, and self-efficacy) within the context of culture, life circumstances, resources, and life course” (Park et al., 2023). Existing interventions promoting well-being have shown sustained improvements in well-being and quality of life in cancer, type 1 diabetes, depression, and HIV/AIDS (Storch et al., 2012; McGuire et al., 2015; Cheung et al., 2018; Addington et al., 2019; Salsman et al., 2020; Leuchter et al., 2023; Moskowitz et al., 2023; Salsman et al., 2023). ITS need the opportunity to benefit from targeted, supportive interventions to enhance their well-being and resilience.

While evidence-based treatments exist, these focus on tic reduction and management. Barriers, including geography, availability, and the financial burden, make these treatments impractical or inaccessible for many (Pring et al., 2023). Stigma, motivation, and fear of making tics worse impact participation and success of treatment. Two pilot interventions incorporated positive coping strategies into their programs with preliminary reductions in tic-related impairment and improved quality of life (Storch et al., 2012; McGuire et al., 2015; Heijerman-Holtgrefe et al., 2021, 2022; BT-Coach, 2017). However, coping skills were not the primary intervention focus. Although these interventions reduced symptoms and impairment, the absence of impairment does not equate to well-being (Anderson, 1995; Constitution of the World Health Organization, 2005). It is critical to develop interventions that allow ITS to thrive despite their symptoms and foster their well-being.

When considering the theoretical framework for a PTD/TS-specific intervention that helps reduce psychological distress and promote well-being, stigmatization plays an integral role. However, there is no standard way to measure stigmatization in ITS. We postulate when ITS are stigmatized, they come to see their identity as threatened and unmanageable, which in turn adversely affects their subsequent mental, physical, and functioning. Malli reported when PTD/TS is perceived as self-defining, individuals express more disadvantages, anger, self-stigma, grieving the loss of their old self, and a deprived sense of normalcy (Malli et al., 2019; Malli and Forrester-Jones, 2022). Conversely, if they see their identity as protected and manageable in this framework, their outcomes will be better. As such, some adults believed PTD/TS provided the opportunity for self-development and search for greater meaning, allowing emotional strength and personal growth (Lee et al., 2016, 2019; Malli et al., 2019).

This conceptual framework is informed by the Transactional Model of Stress and Coping (Folkman, 1984) and Identity Threat Models of Stigma (Crocker et al., 1998; Berjot and Gillet, 2011), where stigmatized disorders, such as PTD/TS, include a primary appraisal of social or personal identity as individuals react distinctly different to identity-appraising and non-identity appraising situations. The secondary appraisal occurs when the ITS assess if they have the resources to cope with the situation.

If ITS have the resources to sustain well-being (resilience) in the face of adversity, does that change mental, physical, and functional outcomes? Antecedents such as social determinants of health, cultural and societal stereotypes, social support, and social resources are not directly modifiable without broad-scale interventions (Folkman, 1984; Berjot and Gillet, 2011). However, modifiable factors include how (digital, individual) and what (coping, stigma sensitivity) resources are developed and delivered. Additionally, intervening at either at the identity-appraisal or resource-appraisal stage can both be effective (Liu et al., 2021), but these are age- and context-sensitive (Panter-Brick and Leckman, 2013). The early challenges ITS experience can alter brain structure and function (McEwen, 2007; Karatsoreos and McEwen, 2011; Karatsoreos and McEwen, 2013) through epigenetic changes resulting in long-term consequences, including impacting their mental health outcomes (Green et al., 2010; Kessler et al., 2010). This overall process, biological embedding (Hanson and Gluckman, 2008; Shonkoff et al., 2009; Hertzman and Boyce, 2010), is most influential during periods of brain development such as early childhood and adolescence (Karatsoreos and McEwen, 2013) when tics are also beginning and peaking (Leckman et al., 1998; Freeman et al., 2000; Hirschtritt et al., 2015). Targeting interventions during these periods will have the greatest impact (Yousafzai et al., 2013).

Intervention development relies on the ability to test the conceptual framework and reliably measure stigma. Therefore, having a PTD/TS-specific measure is necessary. Existing measures have not been widely used nor studied in the youth population (Stuart, 2005; Kanter et al., 2008) nor address the full spectrum of PTD/TS-relevant stigmatization (Cella et al., 2012; Lai et al., 2012; McKeague et al., 2015; Kaushik et al., 2017). The overarching goal of this research is to develop and validate a PTD/TS-specific stigma measure, the Tourette Discrimination-Stigmatization Scale (TD-STIGMA), so we can test our conceptual framework for a wellbeing intervention in PTD/TS. This paper presents the study protocol for developing and validating the TD-STIGMA. The aims of this study are: (1) engaging with PTD/TS stakeholders to identify perceived stigmatization, experienced discrimination, and the need for targeted interventions in youth and young adults with PTD/TS, (2) to develop a clinical measure of stigmatization and discrimination using stakeholder input, and (3) to evaluate psychometric properties of the TD-STIGMA scale. The proposed research aims will inform the future development of a working clinical model and behavioral intervention that improves downstream mental, physical, and functional outcomes in ITS.

This study occurs at Wake Forest University School of Medicine (WFUSM), a tertiary facility in Winston-Salem, North Carolina. WFUSM serves as the academic core of Advocate Health, the nation’s fifth-largest nonprofit integrated health system in the United States. The southeast region has over 2,500 eligible English-speaking patients between 8 and 30 years old with diagnoses of PTD/TS. The southeast regional catchment area includes North Carolina, South Carolina, Virginia, Tennessee, and West Virginia. This study is registered under Clinicaltrials.gov NCT05696769 and the Open Science Framework https://doi.org/10.17605/OSF.IO/EX52G.

This study focuses on three specific cohorts: (1) youth and young adults with PTD/TS, (2) supporters, which include parents, caregivers, partners, or significant others, and (3) medical providers and advocates. Inclusion criteria for the ITS include a physician or neuropsychologist-confirmed diagnosis of PTD/TS based on the Diagnostic and Statistical Manual for Mental Disorders – Fifth Edition (DSM-V), English speaking, and between the ages of 8–30 years old. Exclusion criteria include a diagnosis of intellectual disability, active psychosis, or any other condition that, in the Principal Investigator’s opinion, would limit the participant’s (or parent’s) ability to understand study measures. Inclusion criteria for the supporter cohort include caring or having a relationship for/with a youth and young adults with PTD/TS for at least 1 year and being English-speaking. Inclusion criteria for the medical providers and advocates cohort include caring for a youth and young adults with PTD/TS and speaking English.

The study is designed as an exploratory sequential 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 PTD/TS 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). We report how we determined our sample size, all data exclusions, all manipulations, and all measures in the study.

Descriptive statistics will be used to examine TD-STIGMA item-level scores for detecting ceiling/floor effects, outliers, normality, and other problematic distributional characteristics. Such initial screening of the items may result in removing items that do not perform well (e.g., strong ceiling effect).

Following guidelines from the modified Consensus-based Standards for selecting health Measurement Instruments (Prinsen et al., 2018), we plan to evaluate the scale’s psychometric properties along several aspects of validity. The assessment of face and content validities is described in the section Feedback Process. Confirmatory factor analysis (CFA) will also assess the structural validity for the hypothesized domains-- structural, community, interpersonal, and individual levels of stigma and discrimination (Figure 1). We do acknowledge the smaller sample size. However, given the relatively rare disease and that the domains in CFA have been identified in prior literature we felt it was appropriate. A fifth protective domain will include protective measures against stigma and discrimination. Missing values for the CFA will be treated as missing-at-random, and the full information maximum likelihood method, in which only those variables observed for a case would enter the estimation procedure, will be used to maximize efficiency. We will use multiple commonly accepted goodness-of-fit indexes to evaluate if the a priori-determined factor structure is valid (Hu and Bentler, 1999). We also plan to conduct a bifactor analysis (Gibbons and Hedeker, 1992). Because most of the items in TD-STIGMA will be adapted from validated instruments, we expect only minor adjustments (e.g., item removal) will be needed to establish the structural validity for the domains in TD-STIGMA. The subscale score will be formed from the sum score of the items under the subscale, and the unweighted sum of subscales will form the overall score.

We expect missing values to be minimal. If the proportion of missing items exceeds 50%, the participant will not receive a score and will be excluded from all analyses. Internal consistency will be evaluated using Cronbach’s alpha at the item and the subscale/scale level. The intraclass correlation will assess test–retest reliability by retesting a subset of clinically stable participants (n = 20) 2 weeks after test administration. We expect the test–retest intraclass correlation coefficient to be above 0.70 (Paiva et al., 2014). Items may be removed if that criterion is not achieved. Both convergent validity and known-group validity will be evaluated. Convergent validity will be evaluated by assessing the correlation coefficients between the subscale/scale of TD-STIGMA and the companion measures. We plan to use the criterion based on the ISMI for assessing criterion validity. We will use a cutoff of 2.5 on the ISMI scale (Ritsher et al., 2003; Boyd et al., 2014; Bengochea-Seco et al., 2018), of which the total score range is 0 to 4, 4 being the worst, to indicate the presence of stigma. We will compare the means of TD-STIGMA of the stigma and the non-stigma groups using a t-test. We hypothesize that TD-STIGMA is higher in the stigma group identified by ISMI. The analyses will use the SAS 9.3 statistical software and Mplus v8.

There may be discomfort in discussing some of the information, or it may be difficult for caregivers to hear. If a participant becomes distressed or triggers a reportable event, the study team will follow the outlined procedures as appropriate. Reportable events include positive suicidal ideation, suicidal attempt, self-harming behaviors, or another mandated event.

All appropriate measures will be taken to ensure confidentiality including restricted access to secure study files, de-identified transcripts, and using unique study identifiers. We will not reuse the recordings. The audio or video will be uploaded into a secure study folder. Data for this initiative will be entered into a REDCap database. Following data collection, the subject identifying information is destroyed 6 years after the closure of the study, consistent with data validation and study design, producing an anonymous analytical data set. No reference to any individual participant will appear in reports, presentations, or publications that may arise from the study.