636 - A Screening Tool for Down syndrome Associated Arthritis

Publication Number: 636.3666

Jordan T. Jones, Children's Mercy Kansas City, Kansas City, MO, United States; Nasreen Talib, Children's Mercy Hospitals and Clinics, Kansas City, MO, United States; Emily Cramer, Children's Mercy Kansas City, Kansas City, MO, United States; Diletta Valentini, Ospedale Pediatrico Bambino Gesù, Rome, Lazio, Italy; Nicole Baumer, Children's Hospital Colorado, Denver, CO, United States; Sabrina Sargado, Boston Children's Hospital, Boston, MA, United States; Nicolas Oreskovic, Massachusetts General Hospital, Boston, MA, United States; Stephanie L. Santoro, Massachusetts General Hospital, Boston, MA, United States; Jonathan D. Santoro, Children's Hospital Los Angeles, Los Angeles, CA, United States; Kishore Vellody, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States; Andrew McCormick, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States; Catherine S. Franklin, The University of Queensland, Brisbane, Queensland, Australia; Priya Kishnani, Duke University School of Medicine, Durham, NC, United States; Sarah Hart, Duke University School of Medicine, Durham, NC, United States; Gail A.. Spiridigliozzi, Duke University Medical Center, Durham, NC, United States; Jacqueline Kitchen, CMH, Kansas City, MO, United States; Brian Skotko, MassGeneral Hospital for Children, Boston, MA, United States

Background: Down syndrome (DS) is associated with an increased risk for inflammatory arthritis that can lead to disability and is termed Down syndrome-associated arthritis (DA). Reports suggest DA is more prevalent than juvenile idiopathic arthritis, which is the most common pediatric rheumatologic disease. Clinical awareness of DA may prevent morbidity and lead to earlier treatment and better outcomes, but there is currently no consensus approach to screen for DA. A musculoskeletal (MSK) screening tool was developed and piloted in clinics to screen for inflammatory arthritis in individuals with DS.

Objective: The objectives of this study were to implement a MSK screening tool in clinics that provide routine care to patients with DS to identify DA. Prevalence of DA and the feasibility of implementation of the MSK screening tool were evaluated to determine if specific items of the tool had a higher predictive value to diagnose DA.

Design/Methods: Through a multi-center, international research study, pediatric patients with DS were enrolled by eight institutions that provide comprehensive care to patients with DS. A novel musculoskeletal (MSK) tool was developed to screen all patients for DA through MSK history and physical exam (PE). The MSK screening tool consists of five questions for patients along with a PE. A positive screen is represented by two or more positive MSK History items or one positive PE result. Positive screens were referred to a pediatric rheumatologist, who confirmed or denied a diagnosis of DA. Feasibility was assessed through assessment of additional time the screening tool added to clinical visits.

Results: There were 1,027 participants with an average age of 9 years (SD 4.7). There were 48 (5%) positive screens, and 21 (44%) of those were diagnosed with DA, which represents a 2% prevalence rate (Table 1). MSK history of joint swelling, redness, warmth, joint stiffness, and PE with painful range-of-motion were most associated with a diagnosis of DA (Table 2). Most providers (65%) reported 0-5 minutes to perform the MSK history and (79%) 6-10 minutes to perform the PE.

Conclusion(s): DA is an important consideration in the comprehensive care of individuals with DS. The condition can be aggressive and debilitating if overlooked or misdiagnosed. While the prevalence of DA is lower than other comorbidities seen in people with DS, we developed a simple, feasible MSK screening tool that can help screen for DA. Future studies should focus on shortening the tool while maintaining positive predictive value for diagnosing DA that can be implemented easily into routine care for people with DS.

Table 1. Study Demographics


Table 2. Musculoskeletal Screen Results