Session Information
Session Type: Abstract Submissions (ACR)
Background/Purpose
The ‘Arthropathy of Down syndrome’ was first described in 1984. Three decades on we still have limited literature on the clinical & radiological features of this arthritis, despite the fact that it is thought to be 3-6 times more common than Juvenile Idiopathic Arthritis (JIA) in the general paediatric population. Down’s Arthropathy (DA) is rarely recognised at onset, & remains under-diagnosed & largely under-reported in this population group. Ireland has one of the highest Trisomy 21 (T21) birth rates in Europe (1/547), and therefore provides an ideal setting for such a study.
Research Questions
1. What are the clinical & radiological features of DA?
2. Is DA missed, leading to a delay in diagnosis?
Objectives
To perform a musculoskeletal examination on children with T21, aged 0-18 years & document;
1. Presence of features to suggest old and/or present arthritis
2. Radiological findings.
Methods
From May 2013 to September 2014, Children with T21 (aged 0-18 years) were invited to attend a screening clinic. Screening involved completion of a health questionnaire & musculoskeletal examination. Suspected cases of DA were invited to attend the National Centre for Paediatric Rheumatology (NCPR) for investigation, treatment & follow-up as per normal clinical practice.
Results
370 children with T21 enrolled in the study, 56% Male. 17 new cases of DA were detected, only 3 (17.6%) of which were referred with suspected arthritis. In total, 28 children with DA now attend the NCPR for management of their arthritis, the largest cohort ever reported in the literature. We estimate the Point Prevalence of DA in Ireland to be 17-18/1000. For comparison, the UK Prevalence of JIA is 1-2/1000. Table 1 compares characteristics of our DA cohort to a JIA comparison group.
|
Table 1: Comparison of Study Characteristic by Diagnosis |
||||||
|
Characteristic |
DA |
JIA |
p value |
|||
|
(n=28) |
(n=21) |
|||||
|
Small Joint Involvement |
Mean (sd) 4.46 (1.95) |
3.05 (2.29) |
p<0.01 |
|||
|
Time to Diagnosis |
Mean (sd) 1.71 (1.47) |
0.74 (0.86) |
p<0.05 |
|||
|
Characteristics |
n |
(%) |
n |
(%) |
p value |
|
|
Gender |
Male 14 |
50.0 |
11 |
52.4 |
ns |
|
|
Female 14 |
50.0 |
10 |
47.6 |
|||
|
Rx MTX |
8 |
28.5 |
7 |
33.3 |
ns |
|
|
MTX Nausea |
6 |
75.0 |
1 |
14.3 |
p<0.05 |
|
Features of DA – Summary of our findings
- Polyarticular Rheumatoid Factor negative presentation (69% of DA cohort).
- Finger involvement (77% of DA cohort) – significantly greater proportion than seen in the JIA comparison group.
- Erosive changes noted on X-Ray at presentation (27% of cohort).
- Methotrexate nausea common, but a good response to steroid intra-articular joint injections observed.
- General lack of awareness about the increased risk of arthritis in children with T21.
Conclusion
Children with T21 are at increased risk of developing arthritis, however there is often a delay in diagnosis. Reasons for this are multifactorial and include, failure of the child to express and localise pain, and changes in mobility attributed to the Down syndrome rather than a Rheumatological cause. Early diagnosis & treatment of DA is key to preventing irreversible joint destruction & long-term functional impairment. Methotrexate nausea is a significant barrier to successful treatment of DA with this DMARD. However, a good response to steroid joint injections has been observed. We advocate that children with T21 have an annual musculoskeletal assessment as part of their Health Screening Programme.
Disclosure:
C. Foley,
None;
O. Killeen,
None;
E. J. MacDermott,
None.
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