Use of disease assessment tools to increase the value of case reports on Susac syndrome: two case reports.

BACKGROUND: Susac syndrome is an immune-mediated, ischemia-producing, occlusive microvascular endotheliopathy that threatens the brain, retina, and inner ear. There is a need for disease assessment tools that can help clinicians and patients to more easily, accurately, and uniformly track the clinical course and outcome of Susac syndrome. Ideally, such tools should simultaneously facilitate the clinical care and study of Susac syndrome and improve the value of future case reports. To meet this need, two novel clinical assessment tools were developed: the Susac Symptoms Form and the Susac Disease Damage Score. The former is a comprehensive self-report form that is completed by patients/families to serially document the clinical status of a patient. The latter documents the extent of damage perceived by individual patients/families and their physicians. Both forms were initially trialed with two particularly representative and instructive patients. The results of this trial are shared in this report. CASE PRESENTATION: Patient 1 is a 21-year-old Caucasian female who presented with an acute onset of headache, paresthesias, cognitive dysfunction, and emotional lability. Patient 2 is a 14-year-old Caucasian female who presented with an acute onset of headache, cognitive dysfunction, urinary incontinence, ataxia, and personality change. Both patients fulfilled criteria for a definite diagnosis of Susac syndrome: both eventually developed brain, retinal, and inner ear involvement, and both had typical "snowball lesions" on magnetic resonance imaging. The Susac Symptoms Form documented initial improvement in both patients, was sufficiently sensitive in detecting a subsequent relapse in the second patient, and succinctly documented the long-term clinical course in both patients. The Disease Damage Score documented minimal disease damage in the first patient and more significant damage in the second. CONCLUSIONS: The Susac Symptoms Form and the Disease Damage Score are useful disease assessment tools, both for clinical care and research purposes. Their use could enhance the value of future case reports on Susac syndrome and could improve opportunities to learn from a series of such reports.

Capturing critical data elements in Juvenile Idiopathic Arthritis: initiatives to improve data capture.

BACKGROUND: Documentation of critical data elements is a focus of the Pediatric Rheumatology Care and Outcomes Improvement Network to aid in clinical care and research for patients with juvenile idiopathic arthritis. We aimed to increase data capture for critical data elements and hypothesized that quality improvement methodology would improve data capture. We also hypothesized that data capture for all critical data elements would be lower for virtual visits compared to in-person visits. METHODS: All visits for patients with JIA between 9/14/2020 and 12/31/2021 at the University of Minnesota were included. We assessed completeness of critical data element capture. Sixteen interventions with providers were conducted, including email reminders, individual discussions, group meetings, and feedback reports. We used statistical process control charts to evaluate change over time. RESULTS: Baseline included 355 patient-visits: 221 (62%) in-person and 134 (38%) virtual with critical data elements entry ranging between 50 and 60%. Post-intervention included 1,596 patient-visits: 1,350 (85%) in-person and 246 (15%) virtual, with critical data elements entry reaching 91%. All providers improved data entry during this study. In-person visits had significantly higher data capture rates than virtual visits for all 4 critical data elements. CONCLUSION: We achieved our aim to increase critical data element documentation by focusing on provider buy-in, frequent reminders, and individualized feedback. We also found that collection of critical data elements occurred significantly less often with virtual visits than with in-person visits. Now that we improved capture of critical data elements, we can shift the focus to efforts aimed at improving outcomes for patients with juvenile arthritis.

Non-criteria antiphospholipid antibodies and pediatric rheumatic disease: a case series.

BACKGROUND: Non-criteria antiphospholipid antibodies (NC-aPL) are a relatively undefined subgroup of antiphospholipid antibodies (aPL). Knowledge about NC-aPL in adults is limited and even less is known in pediatric patients. Routine tests for antiphospholipid syndrome (APS)-a clinical state marked by the presence of aPL in association with vascular thrombosis-usually include lupus anticoagulant (LAC), anti-cardiolipin (aCL) and -beta-2 glycoprotein I (aß2GPI). LAC is a functional screen for prothrombotic aPL, while the latter tests identify specific autoantibodies. Specific targets of NC-aPL include, but are not limited to, phosphatidylethanolamine, phosphatidylserine, and prothrombin. PRESENTATION OF CASES: We present single-center data from eight pediatric patients with NC-aPL identified during a three-year period. All patients had presenting features raising suspicion for APS. Most patients were female with a primary rheumatic disease. One patient had a stroke. Another patient had alveolar hemorrhage and pulmonary hypertension. Raynaud's phenomenon, rashes involving distal extremities, and headaches were common. Most patients had a positive LAC, yet their routine aPL tests were negative, prompting testing for NC-aPL. CONCLUSIONS: Our findings suggest NC-aPL are associated with typical signs and symptoms of APS in pediatric patients. Pediatricians and pediatric subspecialists should consider NC-aPL when clinical suspicion is high and routine aPL tests are negative, particularly when LAC is positive. While guidelines for NC-aPL do not yet exist for children or adults, these autoantibodies have pathogenic potential. Actionable items could include evaluation for the presence of other (primary) rheumatic diseases, and consultation with hematologists and/or obstetricians regarding anticoagulation/platelet inhibition and thrombosis education. Future guidelines regarding NC-aPL will only be generated by gathering more data, ideally prospectively.

Using quality improvement methodology and tools to reduce patient wait time in a paediatric subspecialty rheumatology clinic.

Our paediatric rheumatology clinic has experienced inefficient patient flow. Our aim was to reduce mean wait time and minimise variation for patients. Baseline data showed that most waiting occurs after a patient has been roomed, while waiting for the physician. Wait time was not associated with a patient's age, time of day, day of the week or individual physician. We implemented a checkout sheet and staggered start times. After a series of plan-do-study-act cycles, we observed an initial 26% reduction in the variation of wait time and a final 17% reduction in the mean wait time. There was no impact on patient-physician contact time. Overall, we demonstrate how process improvement methodology and tools were used to reduce patient wait time in our clinic, adding to the body of literature on process improvement in an ambulatory setting.

Exploring Pediatric Tele-Rheumatology Practices During COVID-19: A Survey of the PRCOIN Network.

Healthcare providers were rapidly forced to modify the way they practiced medicine during the coronavirus disease 2019 (COVID-19) pandemic. Many providers transitioned from seeing their patients in person to virtually using telemedicine platforms with limited training and experience using this medium. In pediatric rheumatology, this was further complicated as musculoskeletal exams typically require hands-on assessment of patients. The objective of this study was to examine the adoption of telemedicine into pediatric rheumatology practices, to assess its benefits and challenges, and to gather opinions on its continued use. A survey was sent to the lead representatives of each Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) site to collect data about their center's experience with telemedicine during the COVID-19 pandemic. Quantitative data were analyzed using descriptive statistics, and qualitative data were thematically analyzed. Responses were received from the majority [19/21 (90%)] of PR-COIN sites. All respondents reported transitioning from in-person to primarily virtual patient visits during the COVID-19 pandemic. All centers reported seeing both new consultations and follow-up patients over telemedicine. Most centers reported using both audio and video conferencing systems to conduct their telemedicine visits. The majority of respondents [13/19 (68%)] indicated that at least 50% of their site's providers consistently used pediatric Gait Arms Legs and Spine (pGALS) to perform active joint count assessments over telemedicine. Over half of the centers [11/19 (58%)] reported collecting patient-reported outcomes (PROs), but the rate of reliably documenting clinical components varied. A few sites [7/19 (37%)] reported performing research-related activity during telemedicine visits. All centers thought that telemedicine visits were able to meet providers' needs and support their continued use when the pandemic ends. Benefits reported with telemedicine visits included convenience and continuity of care for families. Conversely, challenges included limited ability to perform physical exams and varying access to technology. Pediatric rheumatology providers were able to transition to conducting virtual visits during the COVID-19 pandemic. Healthcare providers recognize how telemedicine can enhance their practice, but challenges need to be overcome in order to ensure equitable, sustainable delivery of quality and patient-centered care.

Adverse Childhood Experiences Are Associated with Childhood-Onset Arthritis in a National Sample of US Youth: An Analysis of the 2016 National Survey of Children's Health.

OBJECTIVES: To determine whether there is an association between adverse childhood experiences (ACEs) and childhood-onset arthritis, comparing youth with arthritis to both healthy youth and youth with other acquired chronic physical diseases (OCPD); and to examine whether ACEs are associated with disease-related characteristics among children with arthritis. STUDY DESIGN: In a cross-sectional analysis of data from the 2016 National Survey of Children's Health we examined whether ACEs were associated with having arthritis vs either being healthy or having a nonrheumatologic OCPD. ACE scores were categorized as 0, 1, 2-3, ≥4 ACEs. Multinomial logistic regression models examined associations between ACEs and health status while adjusting for age, sex, race/ethnicity, and poverty status. Among children with arthritis, associations between ACEs and disease-related characteristics were assessed by Pearson χ2 analyses. RESULTS: Compared with children with no ACEs, children with 1, 2-3, and ≥4 ACEs had an increased odds of having arthritis vs being healthy (adjusted OR for ≥4 ACEs, 9.4; 95% CI, 4.0-22.1) and vs OCPD (adjusted OR for ≥4 ACEs, 3.7; 95% CI-1.7, 8.1). Among children with arthritis, ACEs were associated with worse physical impairment. CONCLUSIONS: Children with higher numbers of ACEs are more likely to have arthritis, when arthritis status is compared either with being healthy or with having OCPD. Further studies are needed to determine the direction of the association between ACEs and childhood arthritis, its impact on disease course, and potential intervention targets that might mitigate these effects.

Rituximab treatment for isolated IgG4-related hypophysitis in a teenage female.

IgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Our patient had no presenting endocrinologic abnormalities. She was treated with surgical resection, prednisolone and rituximab with no further progression of disease and sustained normal endocrine function. This case, the youngest described patient with isolated IgG4-related hypophysitis and uniquely lacking endocrinologic abnormalities, adds to the limited reports of isolated pituitary disease. The use of rituximab for isolated pituitary disease has never been described. While IgG4-related hypophysitis has been increasingly recognized, substantial evidence concerning the appropriate treatment and follow-up of these patients is largely lacking. Learning points: IgG4-related hypophysitis most often occurs in the setting of additional organ involvement but can be an isolated finding. This diagnosis should therefore be considered in a patient presenting with pituitary abnormalities. Most patients with IgG4-related hypophysitis will have abnormal pituitary function, but normal functioning does not exclude this diagnosis. Corticosteroids have been the mainstay of therapy for IgG4-related disease, with other immunosuppressive regimens being reserved for refractory cases. Further research is needed to understand the effectiveness of corticosteroid-sparing regimens and whether there is utility in using these agents as first-line therapies.

Safety of weekly adalimumab in the treatment of juvenile idiopathic arthritis and pediatric chronic uveitis.

Weekly adalimumab dosing is used to treat juvenile idiopathic arthritis (JIA), uveitis, and other pediatric rheumatic diseases, but the safety of such dosing has not previously been studied. A retrospective chart review was conducted to assess the safety of weekly adalimumab. Demographic and clinical data were collected. Basic descriptive analysis was performed to assess for adverse events from weekly adalimumab. Sixty-nine patients at the University of Minnesota or Gillette Children's Hospital were identified as treated with weekly adalimumab. Sixty (87%) were eligible for the chart review. Weekly adalimumab was used most commonly to treat uveitis (28%, 17/60) and rheumatoid factor-negative polyarticular JIA (25%, 15/60). Mean age at the start of weekly dosing was 13.9 years. The majority of patients were concurrently treated with a non-steroidal anti-inflammatory drug and methotrexate. Fifty-three (90%) patients continued weekly dosing for greater than 3 months. The mean duration of weekly adalimumab was 2 years. Throughout the duration of weekly dosing, 24/60 (40%) patients had documented minor infections not requiring antimicrobials and 24/60 (40%) had documented infections requiring antimicrobial treatment. Only three patients (5%) had an infection requiring hospitalization. Two patients (3%) developed autoimmune disease. Laboratory abnormalities and injection site reactions were rare. Weekly adalimumab was used most commonly to treat uveitis and rheumatoid factor-negative polyarticular JIA, and mean duration of weekly dosing was 2 years. Serious adverse events were rare.

Telemedicine and other care models in pediatric rheumatology: an exploratory study of parents' perceptions of barriers to care and care preferences.

BACKGROUND: The United States pediatric rheumatology workforce is committed to a mission of providing children access to pediatric rheumatology care. With a limited number and distribution of pediatric rheumatologists, telemedicine has been proposed as one way to meet this mission, yet the adoption of this modality has been slower than expected. The purpose of this study was to explore the parent perspective on barriers to accessing pediatric rheumatology care and to explore the acceptability of telemedicine and other alternative care models. METHODS: Over a period of six weeks, all new and return English-speaking parents/guardians of patients visiting a single center were offered an opportunity to complete a survey which assessed barriers to care and interest in alternative models of care. Responses were analyzed using descriptive statistics. RESULTS: Survey response rate was 72% (159/221). Twenty-eight percent (45/159) traveled more than three hours to the pediatric rheumatology clinic, and 43% (65/152) reported travel as inconvenient. An overwhelming majority of respondents (95%, 144/152) reported a preference for in-person visits over the option of telemedicine. This preference was similar regardless of whether respondents reported travel to the clinic as inconvenient vs convenient (inconvenient 92%, 60/65; convenient 97%, 84/87; p = 0.2881) and despite those reporting travel as inconvenient also reporting greater difficulty with several barriers to care. Those familiar with telemedicine were more likely to report a preference for telemedicine over in-person visits (27%, 3/11 vs 3%, 4/140; p = 0.0087). The option of an outreach clinic was acceptable to a majority (63%, 97/154); however, adult rheumatology and shared-care options were less acceptable (22%, 35/156 and 34%, 53/156 respectively). CONCLUSION: Among survey respondents, in-person visits were preferred over the option of telemedicine, even when travel was noted to be inconvenient. Telemedicine familiarity increased its acceptability. Outreach clinics were acceptable to a majority. Ultimately, the parent perspective can shape acceptable ways to address barriers and provide accessible care.