A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave.

BACKGROUND: Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during the pandemic. RESULTS: During the first wave of the COVID-19 pandemic in the United States, spring and summer of 2020, 759 participants representing 231 unique RDs responded to open-ended questions about the impact of the pandemic on life with a RD, healthcare access, and coping. Qualitative conventional content analysis was used to analyze responses. Identified themes represented positive and negative dimensions of change, including a shock to the (health) system, coping with uncertainty, and the value of social support while isolated. CONCLUSIONS: Limitations in healthcare access and quality were the most frequently described as impacts of COVID-19. Other major negative impacts included exacerbation of symptoms, psychological distress, and a lack of usual social support and reliable information. However, participants also noted silver linings, especially in healthcare. For some, expanded telehealth enhanced their ability to access medical and mental health providers and RD specialists. Finally, many participants hoped that, by highlighting social and health inequities faced by people with RDs and other minorities, the pandemic would prompt greater understanding and policies that could improve the quality of life of the RD community.

Barriers to mental health service use among people with disabilities during the COVID-19 pandemic.

PURPOSE/OBJECTIVE: The COVID-19 pandemic has exacerbated existing health inequities for people with disabilities (PWD), including disparities in mental health needs and service use. The present study investigated prospective predisposing, enabling, and illness-related correlates of mental health service need and use among PWD during the COVID-19 pandemic. RESEARCH METHOD/DESIGN: Data were collected online at two time points: October-December 2020 and October-December 2021. U.S. adults with disabilities completed self-report measures on demographic and disability characteristics, pandemic-related stressors (e.g., worries about COVID-19), depression, anxiety, barriers to service use, and perceived mental health needs and service use. Two logistic regressions were used to examine the effect of predisposing, enabling, psychosocial barriers, and illness-related factors on perceived mental health service need and service use. RESULTS: Perceptions of mental health service needs were significantly predicted by gender (female-identified, transgender and gender diverse [TGD]), younger age, increased depressive symptoms, and presence of a prepandemic mental health condition. Among those who reported a perceived need, mental health service use was predicted by gender (female-identified and TGD), greater income, lower frequency of anticipated provider disability bias, and presence of a prepandemic mental health condition. CONCLUSIONS/IMPLICATIONS: This study provides vital descriptive data on the pattern of mental health service utilization among PWD during the COVID-19 pandemic, a uniquely disruptive, challenging time. Findings further underscore the necessity of providing disability competency training and bias reduction interventions to mental health professionals, as anticipated provider disability bias was a key factor in nonservice use of PWD. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Disclosing the obvious: Psychosocial implications of (not) explaining facial differences.

Although the disclosure of invisible stigmatized identities has been frequently researched, little work has examined disclosure of facial differences (FD), in which stigma is often highly visible. People with FD are frequently expected by others to disclose or explain their condition. Qualitative work indicates that people with FD have a range of disclosure approaches from agentic disclosure (feeling obliged to disclose), autonomous nondisclosure (choosing not to disclose or to disclose only to certain people), and autonomous disclosure (choosing to openly disclose). The purpose of the present study was to validate these disclosure approaches in a large international sample, examine their frequency of use, and test their relationship to psychosocial outcomes using validated measures. English-speaking participants (n = 288) with 33 different types of FD completed an online survey of disclosure approaches and psychosocial outcomes (i.e. anxiety, depression, self-esteem, stigma, job satisfaction, and relationship self-concept). Participants disclosed to 59 % of the people they knew. Selective and indiscriminate disclosure were the most frequently used and recommended approaches. As predicted, autonomous disclosure was associated with more positive psychosocial outcomes than agentic (non)disclosure and autonomous nondisclosure. Findings from this study can support disclosure autonomy, and thus positive psychosocial outcomes, among people with FD.

Enacted Stigma Experiences and Identity Noticeability of LGBQ+ Women with Rare Diseases.

Lesbian, gay, bisexual, and queer (LGBQ+) people and those with rare diseases (RDs) experience considerable enacted stigma due to their sexual identity and disability/RD status. The frequency, severity, and type of enacted stigma is often influenced by identity noticeability. Although research has shown the challenging impacts of compounded oppression on multiply marginalized individuals, there has been no empirical research to date on the experiences of LGBQ+ women with RDs. This mixed methods study used survey and interview methods to explore enacted stigma experiences and identity noticeability of 29 LGBQ+ women with RDs. We found that RD visibility had a significant positive correlation to RD stigma. Additionally, age had a significant negative correlation to RD stigma and RD visibility. Common concerns for participants included healthcare stigma, sexual identity erasure, RD and/or LGBQ+ community exclusion, and heteropatriarchal expectations and norms. Increased research and support are needed for LGBQ+ women with RDs.

"If not me, who?": Awareness- and Self-Advocacy-Related Experiences of Adults With Diverse Rare Disorders.

In a two-study project, researchers used qualitative methods and inductive thematic analyses to investigate the lived awareness- and advocacy-related experiences of 27 adults with over 35 different rare diseases, disorders, or disabilities (RDs). In Study 1, participants in two focus groups described how a lack of RD awareness led to experiences with several types of stigma, complicated their expressions and disclosures of disability, and spurred them to work towards awareness. Participant priorities identified in Study 1 motivated researchers to design and conduct Study 2. In Study 2, researchers interviewed 18 RD self-advocates about their lived experiences with and ideas regarding advocacy. Their recommendations included increasing social and systemic support, education, and media and professional representation. Advocates in Study 2 also warned of potential roadblocks to self-advocacy and change, including systemic invalidation and bias, lack of access to activist spaces, and limited time and energy for advocacy. Overall, analyses exposed the complex and interwoven influences of RD awareness and advocacy.

Narrative identity among people with disabilities in the United States during the Covid-19 pandemic: The interdependent self.

This study examines narrative identity among a large, diverse sample of people with disabilities (PWDs) in the United States during the "second wave" of the Covid-19 pandemic (October-December 2020). The study relied on abductive analyses, combining a purely inductive phase of inquiry followed by two rounds of investigation that filtered inductive insights through three theoretical lenses: social-ecological theory, the theory of narrative identity, and perspectives from the interdisciplinary field of disability studies. The central result was the identification of a particular configuration of self, one that was demonstrably interdependent with both immediate interpersonal contexts and with broader cultural contexts. This interdependent self was interpreted in both positive and negative ways by PWDs. These findings invite future inquiry into commonplace conceptualizations of an independent self at the center of personality research and suggest that dominant conceptualizations of "the good life" may overly emphasize independence.

Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases.

BACKGROUND: Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systematic research on the experiences of children and adults with RDs in the American healthcare system that identifies commonalities across RDs. This research aimed to: (1) Describe demographics, disease characteristics, diagnostic experiences, access to healthcare, knowledge about RDs, support from healthcare professionals, and patient satisfaction among people with RDs and their caregivers; (2) examine predictors of patient satisfaction among adults with RDs; (3) compare health-related quality of life and stigma to US population norms; 4) examine predictors of anxiety and depression among adults and children with RDs. RESULTS: This large-scale survey included (n = 1128) adults with RD or parents or caregivers of children with RDs representing 344 different RDs. About one third of participants waited four or more years for a diagnosis and misdiagnosis was common. A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services. Approximately half of participants felt their medical and social support was sufficient, yet less than a third had sufficient dental and psychological support. Patients were generally neither satisfied or dissatisfied with their healthcare providers. Major predictors of satisfaction were lower stigma, lower anxiety, shorter diagnostic odyssey, greater physical function, and less pain interference. Adults and children with RDs had significantly poorer health-related quality of life and stigma in all domains compared to US norms. Predictors of both anxiety and depression were greater stigma/poor peer relationships, fatigue, sleep disturbance, limited ability to participate in social roles, and unstable disease course. CONCLUSIONS: People in the U.S. with RDs have poor health-related quality of life and high stigma. These factors are related to patient satisfaction and healthcare access, including diagnostic delays and misdiagnosis. Advocacy work is needed in order to improve healthcare access and ultimately health-related quality of life for children and adults with RDs.

Relationship between number of disability-related conditions and stigma among U.S. adults.

Purpose/Objective Research: Stigma is a common experience for people with disabilities. Stigmatization may lead to disparities in education, employment, and health care, quality of life, and psychological distress. This study's purpose was to (a) determine the relationship between number of disability conditions and stigma for adults with disabilities; and (b) examine whether identifying as a person with a disability, noticeability of a disability or gender moderate relationship between number of disability conditions and stigma. RESEARCH METHOD/DESIGN: We conducted secondary analyses of data from the Disability Health Identity survey, originally collected in 2017 (n = 711). RESULTS: Multivariable linear regression analysis indicated the association between number of disability conditions and stigma was not significant (.567). However, the association between number of disability conditions and stigma was modified by noticeability (p = .007). The relationship between number of disability conditions and stigma was stronger for people with more noticeable disabilities. CONCLUSION/IMPLICATIONS: This research is important because it increases understanding of factors that may play a role in stigma experiences for people with disabilities. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Web-based sensitivity training for interacting with facial paralysis.

Previous research has shown that observers tend to form inaccurate and negatively biased first impressions of people with facial paralysis (FP). It has been hypothesised that this may be ameliorated by encouraging people to focus on channels of expression other than the face. This was tested in a web-based study of 466 participants. Participants in the Trained Condition received tips for perceiving expressiveness in individuals with FP, while those in the Untrained Condition received general medical information about FP. We observed no significant differences between groups for accuracy of emotion recognition, but a significant effect of the training upon perception of emotional intensity. These results show that attending to non-facial cues may improve social perception and reduce bias.

Predicting depression and anxiety among adults with disabilities during the COVID-19 pandemic.

PURPOSE/OBJECTIVE: Emerging research has highlighted sources of magnified stress and trauma for people with disabilities during the COVID-19 pandemic, as compared to others in the general population. However, little research has examined the mental health impact of the pandemic on people with disabilities in relation to disability-related stigma, social isolation, and demographic characteristics. The present study therefore sought to identify predictors of depression and anxiety symptoms among U.S. adults with disabilities during the COVID-19 pandemic. RESEARCH METHOD/DESIGN: Data were collected online between October and December 2020. U.S. adults with disabilities (n = 441) completed self-report measures of depression, anxiety, psychosocial processes, and a range of demographic and disability characteristics. RESULTS: In our sample, 61.0% and 50.0% of participants met criteria for a probable diagnosis of major depressive disorder and generalized anxiety disorder, respectively. Participants also experienced significantly higher levels of disability-related stigma and social isolation compared to prepandemic norms. Hierarchical regression analyses identified higher social isolation, presence of chronic pain, younger age, higher disability-related stigma, and higher worries about contracting COVID-19 as significant predictors of both depression and anxiety symptoms. CONCLUSION/IMPLICATIONS: This study highlights important demographic and psychosocial predictors of mental health risks for people with disabilities in the context of COVID-19. Findings further underscore the need to attend to those at elevated risk within the disability community as rehabilitation professionals, disability organizations, and policy makers work to support people with disabilities in postpandemic recovery and create a more equitable response to ongoing and future public health crises. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Item development, internal consistency, and known-groups validity of the Self-Directed Mobility Scale.

PURPOSE: The aims of the current study include to: (1) describe the item development; and (2) begin the process of establishing the internal consistency and known-groups validity of the Self-Directed Mobility Scale. The purpose of the scale is to assess paediatric physical and occupational therapists' views towards self-directed mobility and their perceived ability and intentions to advocate for children's access to self-directed mobility. METHODS: Three individuals with expertise in kinesiology, psychology, paediatric rehabilitation, and disability studies served as the expert panel for item development. Four samples were included to determine internal consistency and known-groups validity: 350 physical therapists, 89 occupational therapists, 279 kinesiology undergraduate students, and 528 health and wellness undergraduate students. RESULTS: The internal consistency was above the acceptable level of 0.70 (range = 0.72-0.77) for all samples when two items regarding promoting other motor skills prior to powered mobility use and the temporary use of a mobility device were removed. Known-groups validity was established between all samples. CONCLUSIONS: The Self-Directed Mobility Scale appears to be a valid tool for assessing views of self-directed mobility and mobility advocacy intentions in paediatric physical and occupational therapists, as well as undergraduate students. Future work should examine the internal consistency based on study sample to ensure the (> 0.70) acceptable Cronbach's alpha level is met.Implications for rehabilitationThe Self-Directed Mobility Scale is a viable measurement tool to assess views of self-directed mobility and mobility advocacy intentions of pediatric physical and occupational therapists.In combination with other measures, the Self-Directed Mobility Scale may be used in future rehabilitation research to evaluate factors associated with provision of mobility technology to children with disabilities.

Psychometric Validation of the FACE-Q Craniofacial Module for Facial Nerve Paralysis.

Background: Systematic reviews have identified the need for a patient-reported outcome measure for facial nerve paralysis (FNP). The aim of this study was to determine the psychometric properties of FACE-Q Craniofacial module scales when used in a combined sample of children and older adults with FNP. Methods: Data were collected between December 2016 and December 2019. We conducted qualitative interviews with children and adults with FNP. FACE-Q data were collected from patients aged 8 years and older with FNP. Rasch measurement theory analysis was used to examine the reliability and validity of the relevant scales in the FNP sample. Results: Twenty-five patients provided 2052 qualitative codes related to appearance, physical, psychological, and social function. Many patient concerns were common across age. The field-test sample included 235 patients aged 8-81 years. Of the 13 scales examined, all 122 items had ordered thresholds and good item fit to the Rasch model. For 12 scales, person separation index values were ≥0.79 and Cronbach's alpha values were ≥0.82. The 13th scale's reliability values were ≥0.71. Conclusion: The FACE-Q Craniofacial module scales described in this study can be used to collect and compare evidence-based outcome data from children and adults with FNP.

An inductive qualitative content analysis of stigma experienced by people with rare diseases.

OBJECTIVE: There are more than 6,000 known rare diseases (RDs), which are often serious, chronic, and progressive conditions. Cumulatively, having a RD is actually common, impacting an estimated 300 million people worldwide. While the stigmatization of some specific RDs has been studied, examining stigma in a large sample of many RDs allows for a broader understanding of patterns. DESIGN: We used inductive qualitative content analysis to analyze survey responses to an open-ended question about challenges of living with a RD among 384 people with 178 distinct RDs. RESULTS: We identified eight codes which were organized under the following three themes: structurally enacted, interpersonally enacted, and felt stigma. People with RDs experience structurally enacted stigma in the forms of healthcare stigma, education/workplace stigma, and an overall lack of accessibility. They also face interpersonally enacted stigma, including insufficient social support, a lack of understanding from others, and capitalist norms of productivity and self-sufficiency. Additionally, they experience felt stigma related to shame and the pressure to pass as able-bodied. CONCLUSION: Possible solutions to RD stigma include increased education about RDs for healthcare professionals, a societal shift towards prioritizing accessibility, strengthened legal protections for disabled people, and expanded disability justice-focused community organizing.

A hidden community: Facial disfigurement as a globally neglected human rights issue.

Disability rights continue to lag behind other equality movements worldwide. Disfigurement rights have an even more uncertain position, sometimes included in disability rights law, but often not explicitly. This article describes the efforts of Face Equality International to end "face-ism" worldwide, and how healthcare and mental health providers, community developers, and educators can engage to move this vision forward. Beyond medical and surgical treatments, mental health needs, societal, and legal barriers must be addressed. We call for strong and explicit legal protections for disfigurement. Culturally appropriate public education to counteract stigma is crucial in shaping an inclusive and sustainable environment for people with disfigurements.

Exploring the Interaction of Disability Status and Childhood Predictors of Physical Activity and Sport Participation: An Exploratory Decision-Tree Analysis.

A secondary data analysis of 33,093 children and adolescents age 6-17 years (12% with disabilities) from a 2016-2017 National Survey of Children's Health nonrepresentative sample aimed to identify (a) unique clusters of sociodemographic characteristics and (b) the relative importance of disability status in predicting participation in daily physical activity (PA) and sports. Exploratory classification tree analyses identified hierarchical predictors of daily PA and sport participation separately. Disability status was not a primary predictor of daily PA. Instead, it emerged in the fifth level after age, sex, body mass index, and income, highlighting the dynamic intersection of disability with sociodemographic factors influencing PA levels. In comparison, disability status was a second-level predictor for sport participation, suggesting that unique factors influencing PA level are likely experienced by disabled children and adolescents. The authors employ an intersectionality lens to critically discuss implications for research in adapted PA.

Navigating the unknown: A content analysis of the unique challenges faced by adults with rare diseases.

Living with a rare disease can present unique challenges not shared by individuals with common diseases. A content analysis explored which challenges, in participants' own words, are most prevalent across a sample of individuals (n = 1157) with diverse rare diseases in the United States. Symptoms, activity limitations, treatments, uncertainty, and companionship support were mentioned most. Differences across the most frequently mentioned codes were found among disease types, gender, income, years since diagnosis, and symptom duration. Results suggest a need for improved medical care to reduce activity limitations, increased awareness, social support, and access to information for people with rare diseases.

Physical Activity, Medical Home, and Health Behavior Counseling Among Adolescents with Special Health Care Needs: NSCH 2016-2017.

OBJECTIVES: Aim 1 was to establish updated prevalence estimates for meeting national physical activity (PA) guidelines among adolescents with and without special healthcare needs (SHCN), 12-17 years old. To identify at-risk subgroups, our sub-aim was to compare the distribution of prevalence estimates across PA levels by SHCN subtypes, and in reference to peers without SHCN. Aim 2 was to examine the association between meeting PA guidelines, having a medical home, and receiving positive health behavior counseling in this population. METHODS: Weighted prevalence estimates for meeting the 2018 National PA Guidelines (inactive, insufficiently active, sufficiently active: guidelines met) were calculated from a secondary analysis of the National Survey of Children's Health 2016-2017 ( n = 16,171, 27% SHCN). Adjusted odds ratios and 95% CIs were estimated from logistic regression models to measure the association between PA, medical home, and postive health behavior counseling. RESULTS: Of adolescents with SHCN, 15% were reported to be meeting PA guidelines compared to 19% of peers without SHCN peers. Among adolescents with a medical home, regardless of SHCN status, those receiving positive health behavior counseling had 1.70 times the adjusted odds of meeting PA guidelines compared to peers without counseling. CONCLUSIONS FOR PRACTICE: Adolescents with and without SHCN were more likely to meet PA guidelines if they had a medical home and received positive health behavior counseling, highlighting the value of comprehensive healthcare practices for PA promotion.

A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome.

INTRODUCTION: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. METHODS: MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality. RESULTS: Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population. DISCUSSION: Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy.