Exploring the impact of paediatric localized scleroderma on health-related quality of life: focus groups with youth and caregivers.

BACKGROUND: Paediatric localized scleroderma (LS) can negatively impact health-related quality of life (HRQoL) by causing skin fibrosis, abnormal limb development, disfigurement, and side-effects from immunosuppressive treatment. Studies to date have rarely included qualitative data gathered directly from paediatric patients with LS. OBJECTIVES: To assess the impact of LS on HRQoL among affected youth and their caregivers using qualitative description. METHODS: Youth with all subtypes of LS and their caregivers were purposively sampled to participate in age-appropriate focus groups (younger children, early adolescents, adolescents). Each group started with a drawing exercise followed by in-depth discussion of topics including skin symptoms (e.g. itch, pain, tightness), functional impairment, physical appearance, family and peer relationships, and treatment burden. Focus groups were transcribed verbatim and co-coded, with adjudication of differentially applied codes. The study findings were triangulated via comparison with adult reports and published literature. RESULTS: Eleven youth aged 9-16 years and 16 caregivers participated in three focus groups each. Major identified areas of impact included uncomfortable skin symptoms, physical functioning limitations, extracutaneous manifestations, body image, bullying and teasing, unwanted questioning from others, and treatment side-effects and burden. CONCLUSIONS: This is the first qualitative study of HRQoL in LS to include all major LS subtypes. We identified domains of HRQoL impacted by LS, some of which replicate earlier findings and some of which were novel. As impact also changed with developmental stage, our findings support the need for ongoing, formal evaluation of HRQoL in children and adolescents with LS. What is already known about this topic? Paediatric localized scleroderma (LS) negatively impacts health-related quality of life (HRQoL) via skin fibrosis, musculoskeletal and other extracutaneous manifestations from the disease process, and side-effects of systemic immunosuppression. The full impact of LS and its treatment on HRQoL is incompletely understood, with only one published qualitative study of youth with LS, which was limited to facial involvement. There are no qualitative studies of HRQoL in other LS subtypes to date. What does this study add? This is the first qualitative evaluation of HRQoL in youth with LS inclusive of all disease subtypes. Our study confirms that LS affects HRQoL across multiple distinct domains, including uncomfortable skin sensations, impacts on body image, bullying and teasing from peers, unwanted intrusive questioning, physical limitations, extracutaneous manifestations and high treatment burden. These results indicate the need for ongoing clinical assessment of paediatric patients in these domains. What are the clinical implications of the work? These results support the need to care for patients with LS holistically by synthesizing cutaneous, musculoskeletal and extracutaneous disease assessments with multidimensional evaluation of psychosocial impact and adverse effects of treatments. The development of an LS-specific HRQoL measure would advance such efforts.

A novel patient-reported outcome for paediatric localized scleroderma: a qualitative assessment of content validity.

BACKGROUND: According to current standards, no existing patient-reported outcome (PRO) measures have high-quality validity evidence for use with individuals diagnosed with paediatric localized scleroderma (LS). This severely hinders patient-centred LS-focused research, including much needed clinical trials. OBJECTIVES: To develop a valid health-related quality of life measure for individuals with paediatric LS and to qualitatively evaluate its content validity using a patient-centred approach. METHODS: Previously collected qualitative data from youth with LS and their caregivers was used to develop items. The resulting item set was administered in a clinical setting to participants aged 8-18 years old. Cognitive interviews were used to evaluate time to survey completion, readability/understanding of the items, appropriateness of the recall period and construct representation. RESULTS: Seventeen children and adolescents with LS participated in the study. Interviews supported readability, understanding of the items and appropriateness of the recall period in individuals > 10 years old. Revisions were made to simplify the instructions and to be more inclusive of different subtypes of LS. Three items were added to improve content representation. CONCLUSIONS: Content validity was supported by the patient-centred development process of the outcome measure and via direct feedback from individuals with LS and their families. Although an important first step, the resulting PRO, termed the Localized Scleroderma Quality of Life Instrument, should be further evaluated in a larger sample before being implemented. What's already known about this topic? No current health-related quality of life (HRQoL) measures have been created using direct input from children and adolescents with localized scleroderma (LS). When compared with qualitative reports of HRQoL impact in youth with all LS subtypes, no existing patient-reported outcome (PRO) measures have appropriate content validity for individuals with paediatric LS. What does this study add? This study proposes a novel LS-specific PRO and is the first qualitative assessment of content validity for any PRO measure in this population. Results from cognitive interviews with children and adolescents support the content validity of the newly developed item set and its ability to capture HRQoL impact in a clinical context. What are the clinical implications of this work? Incorporating a content-valid PRO of HRQoL impact into clinical practice would allow for the valid, ongoing capture of patient experience in LS. Although content validity is an important and necessary step in the process of evaluating validity, items within this novel measure will undergo additional psychometric evaluation before implementation in research and clinical settings.

Prediction of disease relapse in a cohort of paediatric patients with localized scleroderma.

BACKGROUND: Localized scleroderma (LS) is an autoimmune condition of the skin and underlying tissue. Active or recurring disease can lead to cumulative tissue damage, especially in paediatric-onset disease. OBJECTIVES: To highlight the rate of relapse of LS activity in a cohort of paediatric patients and to evaluate for potential clinical and laboratory predictors of disease relapse. METHODS: Clinical and laboratory data were gathered prospectively. Patients were categorized as experiencing relapse or not, and clinical and laboratory parameters were compared. A logistic regression was fit to predict odds of relapse while controlling for multiple predictors. A subgroup of patients was also evaluated to determine the average time from treatment completion to relapse. RESULTS: Seventy-seven patients were followed for the identified study duration of > 2 years and had achieved disease remission, with 35 (45%) experiencing LS relapse. Patients who were older at disease onset, antinuclear antibody (ANA) positive and without an extracutaneous manifestation (ECM) were more likely to relapse. All three variables remained significant in the multivariable logistic regression model. Results of the subgroup mirrored the larger sample. The average time between treatment completion and relapse was 21 months. CONCLUSIONS: Assessment of patients with LS experiencing a relapse of disease activity has shown older age of initial LS onset and ANA positivity to be potential markers for risk of relapse. Patients meeting these parameters may require greater clinical vigilance. The presence of one or more ECM may be protective. Clinicians treating patients with LS should provide significant long-term follow-up to monitor for relapse.