Exploring clinical features and therapeutic outcomes in Indian children with mixed connective tissue disease: A multicenter study.

INTRODUCTION: Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast Asia. OBJECTIVES: To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India. METHODS: A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail. RESULTS: Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively. CONCLUSION: We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.

Rituximab use in pediatric systemic lupus erythematosus: Indications, efficacy and safety in an Indian cohort.

Introduction: Children with systemic lupus erythematosus have a more challenging and difficult course as compared to their adult counterparts. Today, the aim of therapy for any child with lupus is to keep the child in a state of sustained remission with minimal or no use of steroids. This laudable goal is often difficult to achieve for the child with lupus. In addition to the use of disease modifying agents, sometimes in combination, Rituximab (RTX) is also used as an off-label indication to manage such patients.Objectives: To study the use, efficacy and safety of RTX in a cohort of patients with pediatric lupus followed at a single tertiary level center in Northern India.Methods: This paper is a retrospective review looking at the use of RTX in children with systemic lupus at a tertiary level pediatric rheumatology center in North India over a period of seventeen years. This paper describes the indications, use, efficacy and safety of RTX in childhood systemic lupus erythematosus.Results: RTX was used in 17 of 225 pediatric lupus patients (7.5%), with the most common indication being resistant renal disease (53%). Significant improvement was seen in all domains studied: The mean SLEDAI was 16.25 prior to RTX and reduced to 1.43 six months after the RTX (p value 0.001), steroid use dropped from 100% pre- RTX to 33% at 2 years, there was a sustained reduction in proteinuria in the patients with nephritis from a mean urine spot protein creatinine ratio of 3.1 pre RTX to 0.4 at one year post RTX (p= .006). Finally, 82% of the children had no flare during the follow up (median 24 months). No patient had any adverse event.Conclusions: This study confirms that RTX is very effective in childhood lupus and can be safely used even in a country with a very high burden of infectious diseases. This data adds to the scarce literature in this area from the developing world.

Factors impacting referral of JIA patients to a tertiary level pediatric rheumatology center in North India: a retrospective cohort study.

BACKGROUND: JIA studies demonstrate that there is a "window of opportunity" early in the disease course during which appropriate management improves outcomes. No data is available regarding patients' pathway, before first pediatric rheumatology (PR) evaluation in India, a country where health-care costs are self- paid by patients and where a significant shortage of pediatric rheumatologists (PRsts) is known. This study aimed to describe time from onset of symptoms to first PR visit of JIA patients to a tertiary center in India and factors that impact this. METHODS: This retrospective study is from data collected at the PR center, Sir Ganga Ram Hospital (SGRH) in New Delhi. JIA patients fulfilling ILAR 2004 criteria and seen at least twice from 1st October 2013 to 30th September 2018 were included. Data collected were: demographic details, history of disease, referral practitioner, clinical and laboratory features, treatments. Mann-Whitney U-test, Chi square and logistic regression were used as appropriate to study factors that determined time to first PR visit. RESULTS: Five hundred and twenty patients were included: 396 were diagnosed at this PR center (group A), 124 were previously diagnosed as JIA and managed by non PRsts before first PR visit (group B). Median time from symptom onset to first PR visit was 4.1 months and median distance travelled 119.5 km. Despite ongoing treatment, group B patients had more aggressive disease and resided further away as compared to Group A patients. On univariate analysis, factors that predicted PR visit within 3 months were private patients, short distance to travel, family history of inflammatory disease, history of fever, history of acute uveitis or high ESR. On multivariate analysis all these factors were significant except high ESR and acute uveitis. CONCLUSION: Time to first PR assessment at this center was comparable to that seen in western countries. Cost of care and long distance to the center delayed consultation; acuity of complaints and family history of rheumatologic condition hastened referral. Possible solutions to improve referral to PR centers would be to increase the number of PRsts and to improve medical insurance coverage.

The Hindi version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Hindi language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 275 JIA patients (28.4% systemic, 10.9% oligoarticular, 13.8% RF negative polyarthritis, 46.9% other categories) and 98 healthy children were enrolled in three centres. The JAMAR components discriminated well healthy subjects from JIA patients. Notably, there is no significant difference between the healthy subjects and their affected peers in the school-related problems variable. All JAMAR components revealed good psychometric performances. In conclusion, the Hindi version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

IgG4-related orbital inflammation presenting as unilateral pseudotumor.

IgG4 related systemic disease (IgG4-RSD) has been recognised in the last few years. Orbital pseudotumor as a presentation of IgG4-RSD is one of the rare complaints encountered in pediatric population. It is an inflammatory condition of unknown etiology characterized by tumorous swelling of the organs, characteristic histopathologic changes and elevated IgG4: IgG plasma cells ratio. The disease is also characterized by involvement of varied organ systems. The authors describe a seven-year-old boy with orbital pseudotumor after two years of initial onset with waxing and waning course, steroid responsive lesion and biopsy suggestive of IgG4-RSD involving the extraocular soft tissue. Treatment with oral corticosteroids and Azathioprine produced a significant decline in the pseudotumor size. It is important for pediatricians to be aware of this condition as appropriate recognition and management is important to prevent long-term damage of the tissue involved. This is the first case of IgG4 related orbital pseudotumor reported from India.

Outcome measures in pediatric rheumatology.

Children with rheumatologic disorders need periodic systematic evaluation of their disease status so that all aspects of the child's life that are affected can be adequately assessed. The commonest rheumatologic disease that afflicts children is Juvenile Idiopathic Arthritis (JIA). The child with JIA should have several domains assessed at regular intervals. These outcome measures include the physical, functional and the quality of life assessment measures. No single measure can capture the full impact of the disease on the child's life. This article highlights the key outcome measures in a child with JIA and introduces the readers to several disease measurement tools that have been developed for assessment of outcome for the child with JIA.

Laboratory tests in pediatric rheumatology.

Laboratory tests in rheumatology are important tools that help to support the diagnosis of autoimmune diseases, evaluate the disease activity, monitor the side effects of therapy, and also assist the physician to exclude rheumatologic mimics. Few relevant tests should be ordered after a detailed clinical review of the patient has been carried out and a provisional clinical diagnosis has been reached. There is no test that can rule in or rule out any rheumatologic disease and therefore, there is no role of a detailed "Rheumatology panel" of investigations. In this review, routine blood investigations, acute phase reactants, auto antibodies, HLA B27 and complements have been discussed.