Useful Links

International Rheumatology Societies
The European League Against Rheumatism (EULAR)
American College for Rheumatology (ACR)
European Union of Medical Specialists (UEMS) – Rheumatology)
International League Against Rheumatism (ILAR)
Irish Society for Rheumatology

Charities and Societies
Arthritis Ireland
Irish Osteoporosis Society
Irish Rheumatology Health Professionals Society (IRHPS)

Other Tools
Rheumatology Calculator

EULAR recommendations for management

——————————————————————————–

ACR-endorsed Criteria for Rheumatic Diseases

Diagnostic criteria for many rheumatic diseases

2015 Recommendations for the Management of Polymyalgia Rheumatica

———————————————————————————-

ACR-EULAR Gout Classification Criteria Calculator

RheumaKnowledgy (The Free Online Rheumatology Textbook) is the online source for rheumatology diagnostic and therapeutic information. – See more at: http://rheumaknowledgy.com/#sthash.NuBQ7ivG.dpuf

—————————————————————————————–

LINKS MEDICUS: Particularly in healthcare, the advent of the Internet has promoted a real revolution, helping to spread knowledge and encouraging collaboration among health care providers, researchers and med students in all the global village. It is an inestimable tool to improve global health care and save lives, due to its capability of quickly spreading and sharing medical expertise, experience and information among colleagues, even in the most remote locations.

http://linksmedicus.com/

http://linksmedicus.com/category/medical-specialties/rheumatology/

———————————————————————–

IRISH SKIN FOUNDATION

http://irishskinfoundation.ie/ (Info on Psoriasis, Rosacea, Eczema, Melanoma and Skin Cancer)

—————————————————————————–

PRIMARY CARE ONLINE

Dr. John Bachman of Mayo Clinic discusses his Mayo Clinic Proceedings article detailing the results of a pilot study evaluating the effectiveness of the use of e-visits in a primary care setting using a structured history. The study results included increased convenience for patients and physicians while decreasing overall costs. Available at:   PRIMARY CARE ONLINE

———————————————————————————————————–

Free For All: Rheumatology Textbook by Cush, Kavanaugh, and Stein 

—————————————————————————————-

6 TIPS TO ENHANCE YOUR LEARNING AT (A Conference or elsewhere)

————————————————————————————————-

15 things you didn’t know about back pain

http://www.independent.ie/life/health-wellbeing/15-things-you-didnt-know-about-back-pain-31367264.html

————————————————————————————

Subjective Examination-Patellofemoral Pain-FREE webinar

http://clairepatella.com/subjective-examination-patellofemoral-pain-free-webinar/


METHOTREXATE INFORMATION FOR GPs

RHEUMATOLOGY SOUTHEAST  based in University Hospital Waterford have recently published an information leaflet for GPs, with their permission it is available through the following link:          Methotrexate Information for GPs


offers healthcare professionals a robust knowledge base of practical rheumatology information to assist in clinical decision making.

rheumatologyadvisor.com

————————————

5 Great Exercises for Patella Knee Pain

5 Great Exercises for Patella Knee Pain

https://www.youtube.com/watch?v=-Gp8bYbumVQ

 

—————————–

 

10 Best Exercises for Knee Arthritis, Full Physio Sequence

10 Best Exercises for Knee Arthritis, Full Physio Sequence

 

https://www.youtube.com/watch?v=syBi8gw4dsA

 

 

———————————————

 

10 Best Exercises for Hip Arthritis Full Physio Sequence

10 Best Exercises for Hip Arthritis Full Physio Sequence

 

https://www.youtube.com/watch?v=FiHaoIpRmyI

 


 

 

 

 

Arthropathy of Down syndrome

Clinical features & biomarkers of arthritis in children with Trisomy 21

 

Are you interested in helping with research into this understudied area?

 

We wish to recruit children between the ages of 6 months – 21 years with Down syndrome

 

Joint inflammation (arthritis) in children with Down syndrome is under-recognized and can result in chronic disability and permanent joint damage in a population already at significant risk. To date there have been very limited studies looking specifically at arthritis associated with Down syndrome. However, from the limited literature available on this topic we know that arthritis is more common in children with Down syndrome when compared with the general paediatric population.

We are hoping to recruit children with Down syndrome between the ages of 6 months -21 years. If you agree for your child to participate, we would meet with you and your child to discuss the study in more detail. After this if you were both happy to proceed, we would take your child’s medical history, examine their joints and arrange for some relevant blood tests.

Our study is expected to be the largest and most significant ever undertaken of Down’s arthropathy. Together we will help to significantly improve the care provided to children with Down syndrome and arthritis by increasing both knowledge and awareness. We would also anticipate that the study will directly result in better clinical outcomes for children with Down syndrome as a result of earlier recognition and the initiation of early and appropriate treatment.

 

If you would like to find out more about this study and how to get involved please contact:

 

Dr Charlene Foley,

Rheumatology Research Fellow to

Dr Orla Killeen (Consultant Paediatric Rheumatologist)

 

The National Centre for Paediatric Rheumatology

Our Lady’s Children’s Hospital, Crumlin

 

Email: charlenefoley@live.co.uk


 

DOWN’S ARTHROPATHY (DA):

Clinical and Radiological Features of Arthritis in Children with Trisomy 21

 

Foley C1, MacDermott EJ1, Veale D2, Killeen OG1

National Centre for Paediatric Rheumatology (NCPR),

Our Lady’s Children’s Hospital, Crumlin (OLCHC), Dublin1

St. Vincent’s University Hospital, Dublin2

 

Background – Juvenile Idiopathic Arthritis (JIA) and Down’s Arthropathy (DA)

JIA, an autoimmune disease, is the most common rheumatic disease in children worldwide, and one of the most common chronic diseases of childhood. It affects 1 in 1000 children, and has an incidence rate of about 1 per 10,000 children. Early diagnosis and aggressive treatment of JIA is essential to maximise an optimal outcome. A delay or absence of appropriate treatment can result in potentially devastating consequences, including permanent disability from joint destruction, growth deformities and even blindness (from chronic uveitis associated with JIA) (1).

Trisomy 21 (Down syndrome) is a common chromosomal disorder caused by full trisomy 21 (94%), mosaicism (2.4%) or translocations (3.3%). A variety of medical conditions are associated with Down syndrome including autoimmune disorders such as diabetes mellitus, coeliac disease and thyroid dysfunction. Arthritis also occurs, but is largely under-reported in this population group.

The ‘Arthropathy of Down syndrome’ was first described in 1984 (2). There is a paucity of data in the literature; the largest case series for reference is a retrospective chart review of nine children with Trisomy 21 and arthritis, reported in 1990 (3). There are no published population surveys establishing the prevalence and incidence rates of DA. Crude estimates suggest that the incidence of arthritis in Down syndrome is as much as 3 to 6-fold greater than JIA in the general paediatric population. Prevalence has been estimated to be 8.7/1000 (4, 5).  Despite these suspected higher incidence and prevalence rates, arthritis is rarely recognised at onset, and is frequently under or misdiagnosed.

The International League of Associations for Rheumatology (ILAR) classification system divides JIA into seven clinical subgroups. It is unknown whether arthritis in children with Down syndrome represents JIA or is a unique arthropathy in light of the genetic and immunologic abnormalities associated with Down syndrome. Ireland has one of the highest Trisomy 21 birth rates in Europe (1/400) and therefore provides an ideal setting for a study on DA.

Study Aim To describe the clinical course, radiological features and extra-articular complications of Down’s Arthropathy.

 

Research Question(s)

  1. What are the clinical and radiological features of DA?
  2. Is DA missed, leading to a delay in diagnosis?

 

Methodology

Children with Down syndrome were invited to attend a screening clinic. “Screening” involved completion of a health questionnaire and a comprehensive musculoskeletal examination. Musculoskeletal symptoms and signs were documented. Suspected cases of Down’s Arthropathy were invited to attend the National Centre for Paediatric Rheumatology (NCPR) for Consultant-led investigation, treatment and follow-up as per normal clinical practice.

Data on a convenience sample of newly diagnosed cases of JIA over the same time period was collected to create a comparison group.

 

Results

To date, 503 children with Trisomy 21 (56% Male) have been screened for DA. A range of musculoskeletal disorders have been detected and documented through the screening process (figure 1). After pes planus, the most common musculoskeletal finding in our cohort of children with Down syndrome was inflammatory arthritis.

 

Figure 1: Musculoskeletal Anomalies in a national cohort of children with Trisomy 21

Twenty-two new cases of DA have been diagnosed during the time frame of the study. 91% of these children have poor language skills or are non-verbal, 15% are on the Autistic Spectrum. Only 3 of the parents suspected that their child may have arthritis, and this was only after reading our recruitment literature. Combining those attending the NCPR prior to the start date of the study, we have a cohort of 33 cases of DA, the largest reported in the literature to date.   Using results from our research, the suspected prevalence of DA is as high as 18-21/1000.

 

Using the ILAR classification system we have divided our DA cohort and JIA comparison group into subtypes (figure 2). Compared with the JIA cohort where a variety of subtypes are represented, we have found that the majority of children with Trisomy 21 presented with a Polyarticular (5 or more joints), Rheumatoid Factor negative pattern of disease (88% of cohort). Of this subgroup, 30% of cases had small joint or wrist involvement only.

 

Figure 2: ILAR classification of JIA and DA cohort

 

We compared clinical features of our DA and JIA group. Table 2 compares features at time of diagnosis. In DA, a significantly higher number of restricted joints (restricted joint count, RJC) were noted at diagnosis. This may be related to the fact that a significant delay in diagnosis was observed in our DA cohort (1.7 years, range 0.2-4.9 years) compared with our JIA cohort (0.7 years, range 0.2-2.4 years). In fact this may be an underestimation of time to diagnosis from symptom onset as 42% of parents from our DA cohort were unable to give a date of symptom onset. Alternatively, the greater RJC may represent a more aggressive disease process in the DA cohort.

Table 2: Comparison of clinical and laboratory features at diagnosis, DA v JIA

 

Small joint involvement of the hands was noted in 88% of the DA cohort, significantly higher than that observed in the JIA comparison group.

 

Radiological changes were present in 66.7% of DA cases at diagnosis, 29.2% had erosions on plain film (figure 3). These changes were significantly higher than those detected in our JIA comparison group. Again this is likely due to the significant delay in diagnosis of DA, but could also support the theory that DA is potentially a more aggressive, erosive disease than JIA.

 

Figure 3: Radiological Features at presentation in DA

 

With regards to extra-articular complications, no cases of uveitis have been observed to date in either our DA or JIA cohorts.

 

Treatment of DA has been as per normal clinical practice. Escalation to the use of the Disease-Modifying Anti-Rheumatic Drug (DMARD) Methotrexate was required in 28.5% of DA cases and 42.4% of JIA cases. 75% of the DA cohort treated with this DMARD had to discontinue treatment due to methotrexate-associated nausea. This was a significantly higher proportion of cases than in our JIA cohort treated with Methotrexate, where just 7.1% discontinued for the same reason.

 

Conclusion

The ‘Arthropathy of Down syndrome’ is an under-recognized condition that results in chronic disability and functional impairment in a population already at significant risk. Studies of arthritis in Down syndrome are very limited. Our research, the largest of its kind to date, has shown that there is an increased risk of arthritis in children with T21, with a prevalence double that previously reported. We have found there to be a significant delay in diagnosis, the reasons for this being multifactorial. A significant contributory factor is the altered expression of pain observed in children with Down syndrome. They express pain more slowly and less precisely than a child without Down syndrome and often adapt to pain with reported observations such as slowing mobility, reluctance to hold a parental hand or behavioural change. The disease pattern appears to be unique to DA, with predominance in the small joints of the hands. Treatment is complicated by a high percentage of drug-associated complications.

 

Take Home Messages

  • When assessing a child with Down syndrome, careful consideration of possible interpretations of the history and a thorough clinical examination will aid correct and timely diagnosis of Down’s Arthropathy.
  • A high index of suspicion for pathology should be employed when assessing a child with Down syndrome presenting with change and/or deterioration in function and mobility.
  • Inflammatory arthritis in children with Down syndrome is common and potentially erosive and debilitating if left undetected and untreated.
  • Musculoskeletal assessment should be regular and on-going, and included as part of the annual health surveillance of all children with Down syndrome.

 

 

 

REFERENCES

  1. Foster, H. Rapley, T and May, C. (2010) Juvenile Idiopathic Arthritis: Improved outcome requires improved access to care. Rheumatology 49: 401-403

 

  1. Yancey, CL. Zmijewski, C. Athreya, BH and Doughty, RA. (1984) Arthropathy of Downs syndrome. Arthritis Rheum 27(8): 929-34

 

  1. Olson, JC. Bender, JC. Levinson, JE. Oestreich, A and Lovell, DJ. (1990) Arthropathy of Down syndrome. Pediatrics 86(6):931-6.

 

  1. Padmakumar, B. Evans, LG. Jones and Sills, JA. (2002) Is arthritis more common in children with Down syndrome? Rheumatology 41: 1191-1193

 

  1. Juj, H and Emery, H (2009) The Arthropathy of Down syndrome: an underdiagnosed & under-recognised condition. J Pediatr 154(2): 234-8

 

 

Inflammatory Arthritis Toolkit for GPs

http://www.rcgp.org.uk/clinical-and-research/toolkits/inflammatory-arthritis-toolkit.aspx

CME/CE Libraries in Rheumatology from

Global Academy for Medical Education

https://www.globalacademycme.com/specialties/rheumatology/cme