ACR Meeting Abstracts

ACR Meeting Abstracts

  • Home
  • Meetings Archive
    • 2023 ACR/ARP PRSYM
    • ACR Convergence 2022
    • ACR Convergence 2021
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018 ACR/ARHP Annual Meeting
    • 2017-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • View and print all favorites
    • Clear all your favorites
  • Meeting Resource Center

Abstract Number: 1817

Arthropathy of Down Syndrome: An Under-diagnosed Inflammatory Joint Disease That Warrants a Name Change

Charlene Foley1, Derek Deely 2, Emma Jane MacDermott 2 and Orla Killeen 2, 1Great Ormond Street Hospital, London, Ireland, 2National Centre for Paediatric Rheumatology (NCPR), Our Lady's Children's Hospital Crumlin (OLCHC), Dublin, Ireland

Meeting: 2019 ACR/ARP Annual Meeting

Keywords: juvenile idiopathic arthritis (JIA)

  • Tweet
  • Email
  • Print
Session Information

Date: Monday, November 11, 2019

Session Title: 4M092: Pediatric Rheumatology – Clinical II: JIA (1812–1817)

Session Type: ACR Abstract Session

Session Time: 2:30PM-4:00PM

Background/Purpose: Incidence and prevalence of arthropathy of Down syndrome (A-DS) is increased. It is rarely recognised at onset and remains under-diagnosed. Children with A-DS are therefore presenting with significant joint damage and disability at diagnosis. The aim of this study was to identify undiagnosed cases of A-DS, document time to diagnosis, and describe clinical, laboratory and radiological features of A-DS at diagnosis.

Methods: Children with DS (0–21 years) were invited to attend a local, regional musculoskeletal screening clinic (figure 1). At this appointment a paediatric rheumatology clinical fellow performed a detailed musculoskeletal examination. A second physician at a further clinic confirmed suspected cases of A-DS. Investigations and treatment were instigated as per normal clinical practice for JIA. Data on a convenience sample of 21 newly diagnosed children with JIA was collected to create a comparison group.

Results: Over an 18 month period, 503 children with DS were screened for arthritis and 18 new cases diagnosed. In total, 33 children were identified with A-DS (combining cases attending predating commencement of the study and those referred to our Centre during the study period) (Table 1). This suggests prevalence of A-DS is 20/1000. A significant delay in diagnosis of A-DS was observed. The majority of children presented with polyarticular RF negative arthritis, with predominance in the small joints of the hands and wrists. No children with A-DS were ANA positive. In the majority of cases, ESR and CRP were unhelpful in aiding diagnosis of A-DS. Erosive changes were reported on X-ray in a significantly (p< 0.05) greater proportion (42%) of children with A-DS than JIA (14%).

Conclusion: Studies of A-DS are limited. We describe a cohort of 33 children with A-DS. Comparable to previous reports, our results confirm an increased risk of arthritis in children with DS. However, we suggest that prevalence is at least 2–3 times greater than previously reported. We also observed a significant delay in diagnosis of A-DS, the reasons for this being multifactorial (figure 2). Children with A-DS most frequently present with a polyarticular RF negative arthritis, predominantly affecting the small joints of the hands and wrists. The arthritis is erosive in nature; a finding we do not believe is solely related to the observed delay in diagnosis.

This study highlights the importance of raising awareness about the increased risk of arthritis in children with DS to aid recognition and more timely diagnosis of A-DS. The addition of an annual musculoskeletal examination to the well recognised health surveillance guidelines for all children with DS would be an initiative of great benefit to this cohort. We propose a more appropriate clinical term that better reflects the inflammatory, erosive nature of the disease would be DS-associated arthritis (DA). In order to facilitate more cohesive clinical practice and future collaborative research, we would hope that this could become a universally accepted term among healthcare professionals and the general public. Future research to accurately define disease pathogenesis, identify a biomarker of disease and establish best practice in terms of treatment of A-DS would be of benefit.


Figure 1

Flow diagram summarising the musculoskeletal screening process and follow-up provided to all children with Down syndrome that participated in the study.


Table

Demographic, clinical and laboratory features at diagnosis of A-DS -n=33- and JIA -n=21-. Where data are presented as median and range, statistical significance was determined using the Mann-Whitney U-test. For data presented as a proportion of the total population, statistical significance was calculated using the Chi-square test or Fisher exact test.
AJC = Active joint count; RJC = Restricted joint count, ESR = Erythrocyte sedimentation rate, CRP = C-Reactive Protein, ANA = Anti-nuclear antibody, RF = Rheumatoid factor.
Small joint involvement is defined as evidence of active inflammation in the metacarpophalangeal -MCP-, proximal -PIP- and/or distal -DIP- interphalangeal joints of the hands;
♯DA cohort of n = 25; ★DA cohort of n = 29 -n numbers less than total cohort as results missing-


Figure 5 corrected

Schematic highlighting challenges which may impede correct and timely diagnosis of A-DS -from top, clockwise-. The first is lack of awareness about the increased risk of arthritis in children with DS among both the general public and healthcare professionals; Gradual functional
loss over time rather than an acute presentation may go undetected by the child’s carer. Frequently, delay in motor development is falsely attributed to intellectual disability, and changes in activities of daily living to behavioural problems associated with DS, rather than a possible diagnosis of arthritis. Hypermobility, a feature of DS may make musculoskeletal examination more challenging, as it may be difficult to appreciate loss of range of movement secondary to an inflammatory arthritis. Many children may be uncooperative when it comes to examination. This combined with poor verbal skills can make eliciting a clear history and thorough musculoskeletal examination challenging. Apparent differences in pain expression have been reported in children with DS. Children with DS often adapt to pain with reported observations such as slowing mobility, reluctance to hold a parental hand or behavioural change. Therefore, these are key features to try and elicit when taking a history from a child with a suspected diagnosis of A-DS.


Disclosure: C. Foley, None; D. Deely, None; E. MacDermott, None; O. Killeen, None.

To cite this abstract in AMA style:

Foley C, Deely D, MacDermott E, Killeen O. Arthropathy of Down Syndrome: An Under-diagnosed Inflammatory Joint Disease That Warrants a Name Change [abstract]. Arthritis Rheumatol. 2019; 71 (suppl 10). https://acrabstracts.org/abstract/arthropathy-of-down-syndrome-an-under-diagnosed-inflammatory-joint-disease-that-warrants-a-name-change/. Accessed March 27, 2023.
  • Tweet
  • Email
  • Print

« Back to 2019 ACR/ARP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/arthropathy-of-down-syndrome-an-under-diagnosed-inflammatory-joint-disease-that-warrants-a-name-change/

Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts during your browser session by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

© COPYRIGHT 2023 AMERICAN COLLEGE OF RHEUMATOLOGY

Wiley

  • Home
  • Meetings Archive
  • Advanced Search
  • Meeting Resource Center
  • Online Journal
  • Privacy Policy
  • Permissions Policies
  • Cookie Preferences