Children and adolescents with SLE: not just little adults.

Juvenile-onset systemic lupus erythematosus (JSLE) represents 15-20% of all SLE cases. Whilst features of this chronic complex multisystem autoimmune disorder are highly variable, children and adolescents generally present with a more severe illness than adults and accrue greater disease damage over time. JSLE has a less striking female preponderance and differs from the adult form in pattern of major organ manifestations. Corticosteroids are used in almost all children with JSLE along with the majority requiring additional immunosuppressive medications. Making the diagnosis early and optimizing disease control are essential to ensure that normal childhood and adolescent development is not impeded. In this young population, special consideration must be given to the long-term sequelae of the disease and treatment-related toxicity. There is a current lack of paediatric-specific controlled trials and treatment strategies are generally guided by adult data. The enormous psychological and social impact of the disease and its treatments upon the child or young person and their family necessitates a comprehensive, holistic, specialized multidisciplinary approach to managing JSLE.

Indoor carbon monoxide: a case study in England for detection and interventions to reduce population exposure.

BACKGROUND: Potential exposure to carbon monoxide (CO) in private homes is largely unquantified. AIM: To estimate prevalence of potential exposure to CO in residential dwellings and describe associated interventions in an inner-city community. METHODS: A housing association in London, Hackney Homes, began fitting CO alarms in the 22,831 local authority homes it is responsible for in January 2010. A gas engineer investigated each alarm activation and recorded the information on a standard form. We undertook a cross-sectional study of all 22,831 homes, using data from these forms. Descriptive analysis was performed, including incidence, monthly variation, cause of alarm activation, and actions taken. RESULTS: Between November 2011 and April 2012, 106 incidents were reported. Of these, 34.6% identified an issue with a gas appliance, and 10.6% identified misuse of cooking methods as the cause of activation. Relevant interventions were put in place, including disconnection of the gas appliance and education around cooking methods. DISCUSSION: Little is known about the burden of CO poisoning in residential dwellings. This study provides important information on the path to quantifying population exposure to CO as well as establishing a possible approach to access this key information and realistic interventions to reduce potential exposure.

The use of transient evoked otoacoustic emissions as a hearing screen following grommet insertion.

OBJECTIVE: This study aimed to evaluate the sensitivity of transient evoked otoacoustic emission testing as a screening tool for hearing loss in children, after grommet insertion. METHOD: A prospective study was conducted of 48 children (91 ears) aged three to 16 years who had undergone grommet insertion for glue ear. At post-operative review, pure tone audiometry was performed followed by transient evoked otoacoustic emission testing. Outcomes for both tests, in each ear, were compared. RESULTS: The pure tone audiometry threshold was ≤ 20 dB in 85 ears (93.4 per cent), 25 dB in two ears (2.2 per cent) and ≥ 30 dB in four ears (4.4 per cent). Transient evoked otoacoustic emissions were detected in 69 ears (75.8 per cent). The sensitivity of transient evoked otoacoustic emission testing for detecting hearing loss was 100 per cent for ≥ 30 dB loss but only 66.7 per cent for ≥ 25 dB loss. CONCLUSION: Transient evoked otoacoustic emission testing offers a sensitive means of detecting hearing loss of ≥ 30 dB following grommet insertion in children. However, the use of such testing as a screening tool may miss some cases of mild hearing loss.

Effectiveness of infliximab in the treatment of refractory juvenile dermatomyositis with calcinosis.

OBJECTIVES: Some juvenile dermatomyositis (JDM) patients have a disease course which is refractory to multiple drug treatments. Prolonged disease activity is associated with increased mortality and morbidity. TNF-alpha has been identified in high levels in JDM patients who have a long disease course and calcinosis. We assessed the response of five refractory JDM patients to the anti-TNF-alpha monoclonal antibody, infliximab. METHODS: For all five patients intravenous infliximab was initially given at a dose of 3 mg/kg. Further doses were then given at weeks 2, 6 and every 8 weeks thereafter. The dose and frequency were tailored in accordance with clinical response. Clinical and laboratory data were collected prospectively. RESULTS: We report results between 8 and 30 months after starting infliximab. Improvements were seen in all five patients as shown by positive changes in physician visual analogue scale (VAS), Childhood Myositis Assessment Score (CMAS), Childhood Health Assessment Questionnaire (CHAQ), joint range of movement and, in some, regression of calcinosis and skin signs. There were no major side effects observed with addition of infliximab to the therapeutic regime. CONCLUSIONS: Major clinical benefit was demonstrated after the initiation of infliximab in all five cases of refractory JDM.

HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap.

OBJECTIVES: To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization. METHODS: Children (114) with JDM were recruited, and clinical data collected, through the JDM National Registry and Repository (UK and Ireland). Sera were assayed for ANA using standard immunofluorescence techniques and specific antibodies characterized using ELISA, immunodiffusion and radioimmunoprecipitation. Patients and controls (n = 537) were genotyped at the HLA-DRB1 and DQB1 loci, and then the DQA1 locus data was derived. RESULTS: Over 70% of the patients were ANA-positive. Clear differences in serological and genetic data were demonstrated between JDM and JDM-SSc overlap groups. Strong associations were seen for HLA-DRB1*03 (all cases vs controls, P(corr) = 0.02; JDM-SSc vs controls, P(corr) = 0.001) and HLA-DQA1*05 (all cases vs controls, P(corr) = 0.01; JDM-SSc vs controls, P(corr) = 0.005). The frequency of the HLA-DRB1*03-DQA1*05-DQB1*02 haplotype was significantly increased in the JDM-SSc (P = 0.003) and anti-PM-Scl antibody (P = 0.002) positive groups. All anti-U1-RNP antibody-positive patients had at least one copy of HLA-DRB1*04-DQA1*03-DQB1*03 haplotype. Associations were observed between serology and specific clinical features. CONCLUSIONS: We present clinical data, HLA genotyping and serological profiling on a large cohort of JDM patients and a carefully characterized subset of patients with JDM-SSc overlap. The results confirm known HLA associations and extend the knowledge by stratification of data in serological and clinical subgroups. In the future, a combination of serological and genetic typing may allow for better prediction of clinical course and disease subtype in JDM.

Oropharyngeal dysphagia in juvenile dermatomyositis (JDM): an evaluation of videofluoroscopy swallow study (VFSS) changes in relation to clinical symptoms and objective muscle scores.

OBJECTIVE: To determine if objective, validated scores of muscle weakness and function [manual muscle testing (MMT), childhood myositis assessment scale (CMAS)] or scores of general disease activity or function [childhood health assessment questionnaire and physician global assessment of disease activity visual analogue scale (VAS)], can predict children at risk of swallow abnormalities in juvenile dermatomyositis (JDM) measured by videofluoroscopic swallow studies (VFSS). METHODS: Patients were referred for speech and language dysphagia assessment upon diagnosis of JDM or flare of disease. VFSS was used to document a swallow score indicating severity of swallow dysfunction. Clinical symptoms, examination findings and objective scores of disease activity were analysed. Any correlation was looked for using chi-squared Fisher exact test and linear regression models. RESULTS: Fourteen patients with inflammatory myopathy (age 2-16 years) had clinical assessments and VFSS. VFSS was abnormal in 11 children (79%). Only two children were asymptomatic at assessment, but both had swallow dysfunction, including aspiration, on VFSS. In contrast, three of the symptomatic children had a normal VFSS. No relationship was found between objective disease severity scores and VFSS swallow score. CONCLUSIONS: This study failed to show any correlation between swallow score and objective measures of muscle strength and function (MMT/CMAS) or general disease activity and function [physician VAS/childhood health assessment questionnaire (CHAQ)]. In the absence of a more accurate assessment method to determine which children with active JDM are most at risk of swallow dysfunction and aspiration, all children with active dermatomyositis should be referred for speech and language assessment and VFSS.

Biologic therapies in juvenile idiopathic arthritis: why and for whom?

With greater understanding of pathophysiological, genetic and environmental influences on juvenile arthritis, there is an opportunity to develop new targets for therapy and greater control of disease. Early, aggressive control of arthritis is essential in order to prevent long-term disability. For those children that are resistant to standard therapy, new and exciting alternative medications are emerging. However, continued research is needed to gain a greater understanding of immunological and genetic profiles of the disease. Pharmaco-vigilance is essential to establish efficacy and side effect profiles. Physiotherapy, occupational therapy, nursing issues, and psychology remain integral to the management of JIA, along with liaison with ophthalmology, orthopaedic and dental colleagues. This article reviews the current biologic treatment options available for children with arthritis and the evidence base that supports their use.

Failure to over express MHC-CLASS-1 on muscle biopsy in a case of amyopathic juvenile dermatomyositis.

The concept of amyopathic dermatomyositis or dermatomyositis sine myositis, is contentious, particularly within paediatrics. We report an 8-year-old girl presenting with dermatological dermatomyositis without muscle weakness. Muscle biopsy changes are described, in particular, the absence of MHC class 1 over expression. This supports the concept of amyopathic dermatomyositis as a subgroup of juvenile dermatomyositis (JDM) and suggests that immunohistological analysis may be a valuable in excluding a myositic element in such cases.

The Juvenile Dermatomyositis National Registry and Repository (UK and Ireland)--clinical characteristics of children recruited within the first 5 yr.

OBJECTIVES: To identify epidemiological, clinical and laboratory characteristics of juvenile dermatomyositis (JDM) in a national multi-centre cohort of patients, and to review recent changes in the understanding of management and prognosis in the light of these data. METHODS: All children with idiopathic inflammatory myositis recruited to the Juvenile Dermatomyositis National Registry and Repository (UK and Ireland) were included. Features at presentation, and later in disease, were assessed and evaluated. A total of 63 out of 175 children with a new diagnosis of myositis were recruited at the time of diagnosis and followed prospectively. Out of the 175 children, 122 diagnosed prior to 2000 were recruited retrospectively, with subsequent data collected prospectively. RESULTS: One patient died (0.7%), which is equivalent to one death per 465 patient years. Data were available at the time of analysis on 151 registered patients. The most common presenting features were characteristic rash, weakness, tiredness, Gottron's patches and myalgia. Muscle biopsy, magnetic resonance imaging and muscle enzymes were frequently, but not always, abnormal. Muscle enzymes and erythrocyte sedimentation rate were not useful markers of disease activity. CONCLUSIONS: The JDM National Registry and Repository captures data on a significant cohort of children with inflammatory myositis. The current study reports the largest European cohort of children with dermatomyositis to date. This powerful resource will help improve our understanding of this rare disease. Prospective data collection will allow a fuller analysis of poor prognostic features, impact of therapy, and variable outcome of childhood myositis.

Survey of paediatric complementary and alternative medicine use in health and chronic illness.

Groups of 25 children with cerebral palsy (CP), inflammatory bowel disease (IBD), and cancer were compared to 25 healthy children to establish use of complementary or alternative medicine (CAM). Children with chronic disease were greater than three times more likely to use CAM, usually without paediatricians' knowledge.