Francesca Sperotto

Scleroderma in children: an update.

Purpose of reviewScleroderma, in its localized and systemic presentation, represents the third most frequent rheumatic condition in childhood after juvenile idiopathic arthritis and systemic lupus erythematosus. Early diagnosis, appropriate assessment and effective treatment are crucial to improve the long-term outcome. Recent findingsRecent studies, concerning histopathology and clinical associations with other conditions, open new horizons on the etiopathogenesis of scleroderma. New developments have been also reached in the field of outcome measures. In juvenile localized scleroderma (JLS), new techniques such as Doppler and laser Doppler imaging have shown their usefulness for the daily monitoring of the patients. In juvenile systemic sclerosis (JSSc), a new severity score has been developed and needs to be validated in future trials. Finally, a randomized, double-blind controlled trial, a multicenter consensus statement and long-term follow-up studies have confirmed the important role of methotrexate (MTX) for the treatment of JLS. SummaryStudies over recent years highlighted the role of imaging as outcome measures for JLS and introduced a severity score for JSSc. New studies on MTX confirmed its important role for the treatment of JLS.

Joint hypermobility and oligoarticular juvenile idiopathic arthritis: What relationship?

Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH.

THU0534 Joint Hypermobility in Oligoarticular Juvenile Idiopathic Arthritis

Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood. Oligoarticular JIA (oJIA) is the most frequent subtype of JIA, it has often lower limb involvement, ANA positivity and high risk of anterior uveitis. Objectives Since we observed that patients with oligoarticular JIA frequently have joint hypermobility, we would like to explore if the presence of this condition may influence the clinical course, the immunologic characteristics and the outcome of oJIA. Methods Children with oligoarticular JIA, defined by the ILAR criteria1, followed at the Pediatric Rheumatology Unit of University of Padua, with at least two years of disease duration and complete clinical data available, have been evaluated from January to December 2014. Clinical and laboratory data at disease onset and at the last follow-up were collected. They included sex, age, presence of joint hypermobility, according to the Beightons score2, family history for joint hypermobility, disease activity, uveitis, ANA, treatment and outcome (Wallace criteria3). Results 274 oligoarticular JIA patients (224 F, 50 M), aged 11.5±4.5 years and followed for 6.6±3.8 years, entered the study. Age at disease onset was 4.9±3.2 years, 78.8% had persistent subtype and 21.2% extended one. Joint hypermobility was present in 72.3% of children at disease onset and in 55.8% at the last evaluation. Uveitis occurred in 20.8% and was less frequent in hypermobile children (p=0,005). At the last examination, 52.5% of hypermobile patients were off therapy (p<0,05) and at 5 years follow-up 51.3% were in full clinical remission, 35.4% were in clinical remission on medication and only 13.3% had active arthritis (p<0.05). Conclusions Joint hypermobility in Oligoarticular JIA is more frequent than in normal subjects and has a positive influence on the disease course and long term outcome. References Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton 2001. J Rheumatol 2004;31:390-392 Beighton P, Solomon L, and Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973; 32: 413–418 Wallace CA, Ruperto N, Giannini E et al. Preliminary criteria for clinical remission for select categories of juvenile idiopathic arthritis. J Rheumatol. 2004;31:2290-2294 Acknowledgements We acknowledge IL VOLO, no-profit Association for Rheumatic Diseases in Children, ONLUS, Padua, Italy for having supported the study with a dedicated grant. Disclosure of Interest None declared

PReS-FINAL-2120: Juvenile scleroderma international network (JUSINET) database: a reliable instrument for clinical research in juvenile scleroderma syndromes

The conduct of Clinical Research in rare diseases, such as Juvenile Systemic Sclerosis (jssc) and Juvenile Localized Scleroderma (JLS), requires an adequate number of patients and a fruitful collaboration between international centers. The clinical management of young patients suffering from these diseases is also often difficult to achieve in an effective and shared matter.

PReS-FINAL-1015: A systematic literature review on diagnosis and treatment of pediatric rheumatic diseases: a shared initiative

Pediatric Rheumatic Diseases (PRD) represent a group of rare diseases that can lead to significant morbidity. As is the problem with many rare diseases, evidence-based guidelines are lacking and treatment is mostly based on physician experience. Consequently, treatment regiments differ throughout Europe. This year, a new project called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to describe what is needed for optimal diagnosis and treatment for children and young adults with rheumatic disease. This project tackles problems across different fields, ranging from access to resources to ethical consideration to quality and uniformity of health care.

PReS-FINAL-2264: Three middle fingers width correlates with maximum mouth opening and is a reliable parameter to identify joint hypermobility in schoolchildren.

Maximum mouth opening (MMO) is a useful parameter to identify common temporomandibular joint (TMJ) disorders. Up to now, a few studies addressed the issue on MMO normal values in pediatric population, according to age and/or presence of generalized joint hypermobility (GJH), therefore it is difficult to use it in general medical practice.

PReS-FINAL-2004: Musculoskeletal pain in schoolchildren across puberty: a 3-year follow-up study.

Chronic Musculoskeletal Pain (MSP) in children can be due to various non-inflammatory conditions, such as the benign joint hypermobility syndrome (BJHS) or idiopathic MSP (IMSP). MSP heavily influences patients quality of life and is often misdiagnosed or included in the vast category of unspecific MSP. A careful differential diagnosis and knowledge of possible risk factors are needed to properly approach a child/adolescent with osteoarticular symptoms.

PReS-FINAL-2005: Prevalence of antinuclear antibodies in schoolchildren across puberty and possible relationship with musculoskeletal pain. A longitudinal study

Antinuclear antibodies (ANA) are frequently found in children with connective tissue diseases but can be also found in healthy individuals even in absence of autoimmune conditions, with a prevalence ranging from 13.3% (titer ≥1:80) to 5.0% (titer ≥1:160). Puberty is a period of important changing in immune system because of the sexual and adenohypophyseal hormones modulation; in fact many autoimmune and connective tissue diseases have their onset in this period. To date, a few studies have evaluated the role of ANA in healthy subjects but no one has explored their meaning and frequency across the puberty switch.

AB0668 Joint hypermobility, growing pains and obesity are mutually exclusive as causes of musculoskeletal pain in schoolchildren

Background Chronic Musculoskeletal pain (MSP) is common in children and can be due to several non-inflammatory conditions such as the Benign Joint Hypermobility Syndrome (BJHS) and Growing Pains (GP). Since these conditions are often misdiagnosed, affected children frequently undergo several and sometimes invasive procedures which may delay the diagnosis. Objectives Aim of the study was to evaluate prevalence and clinical features of chronic non-inflammatory MSP in schoolchildren and to analyze causes and possible risk factors associated with this condition. Methods We conducted a cross sectional study in a cohort of healthy schoolchildren, aged 8-13 years, by collecting information and performing a physical examination. The clinical history was focused on presence and sites of MSP, defined as continuous or recurrent pain lasting more than 3 months, during the previous 6 months, with an intensity so high to interfere with the regular activities of daily living. We also investigated type of sport activities, presence of GP, defined as cramping bilateral limb pain typically occurring in the evening or at night and associated with a normal physical examination and family history for MSP. Clinical examination included body mass index, pubertal stage and musculoskeletal exam focused on the presence of hypermobility according with the Beighton Criteria (Beighton score ≥4/9). Results 289 schoolchildren, 143 females and 146 males, entered the study. Chronic MSP occurred in 30.4% of subjects, BJHS occurred in 13.1%. GJH was more frequent in symptomatic subjects than in asymptomatic ones (p= 0.054). Symptomatic subjects were more frequently pre-pubertal than pubertal (p=0.006). In general, GP, BJHS and obesity (OB) were mutually exclusive as causes of MSP as, among 88 symptomatic subjects, 52.3% had GP, 40.9% presented BJHS, 4.5% were OB and only two (2.3%) presented both BJHS and OB. After puberty, GP persisted in 66.7%, BJHS in 26.7% and in association with OB in 6.7%. Conclusions Approximately one third of schoolchildren suffer from MSP. These subjects should be carefully evaluated for the presence of GP, GJH and OB, which are mutually exclusive as causes of MSP. Pubertal stage plays an important role in the physiopathology of this condition and further studies are needed to explore this relationship during time. References Kirk JA, Ansell BM, Bywaters GL. The hypermobility syndrome: musckuloskeletal complaits associated with generalized joint hypermobility. Ann Rheum Dis 1967;26:419-425. Beighton P, Soloman L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis 1973;32:413-8. Peterson H Growing pains. Pediatr Clin North Am. 1986; 33: 1365-72. Disclosure of Interest None Declared