Childhood Health Assessment Questionnaire Research Articles

Vascular cell adhesion molecule-1 (VCAM-1), flow mediated dilatation (FMD) and carotid intima media thickness (IMT) in children with juvenile idiopathic arthritis: Relation to disease activity, functional status and fatigue

BackgroundThere is risk of premature atherosclerosis in juvenile idiopathic arthritis (JIA) patients which predisposes to cardiovascular disease (CVD) in adulthood. This can be assessed by flow mediated dilatation (FMD) and carotid intima media thickness (IMT) of the arterial wall and by soluble vascular cell adhesion molecule (sVCAM-1). Aim of the workTo assess endothelial dysfunction in JIA children and to correlate sVCAM with FMD of brachial artery and carotid IMT. Patients and methodsThe study was conducted on 55 JIA patients. The following was assessed: body mass index (BMI), blood pressure, juvenile arthritis disease activity score (JADAS27). Childhood Health Assessment Questionnaire (C-HAQ), physical activity questionnaire (PAQ), fatigue assessment using The Pediatric Quality of Life (PedsQL) inventory, full blood count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), serum creatinine and lipid profile, sVCAM-1, FMD and IMT. ResultsThe patients’ age was 10.9 ± 3.9 years and were 28 (50.9%) females. JADAS-27 and CRP was higher in systemic JIA, but fatigue scores were significantly lower. CHAQ was significantly lower in patients with polyarticular disease. Patients with high disease activity had significantly younger age of onset, lower BMI, shorter disease duration, lower fatigue scale and physical activity scores and higher CHAQ. sVCAM-1 significantly correlated with CHAQ, low-density lipoprotein, CRP and ESR while FMD significantly correlated with PedsQL and PAQ. ConclusionJIA patients had impaired endothelial function and increased cIMT with increased sVCAM-1, impaired lipid profile, decreased physical activity and increased fatigue with a potentially higher cardiovascular risk in this pediatric population.

Juvenile idiopathic arthritis in the biologic era: predictors of the disease progression and need for early introduction of biologic treatment.

To assess longitudinally the course and outcome of juvenile idiopathic arthritis (JIA) in patients diagnosed and followed-up exclusively in the biologic era; also, to define possible predictors of the disease progression and need for early implementation of biologicals. Prospective and retrospective, monocentric cohort study of 120 JIA patients, diagnosed between 2001 and 2010, and followed-up for ≥ 4years (median 8.04). Disease activity, cumulative articular/extra-articular damage and quality of life were evaluated by the assessment tools Juvenile Arthritis Disease Activity Score (JADAS71), Juvenile Arthritis Damage Index (JADI) and Childhood Health Assessment Questionnaire (CHAQ), respectively. Moreover, potential predictors of the disease progression and their relation to biologic therapy were investigated. High JADAS71 score (> 9) at diagnosis was indicative of progression to polyarticular course and the need for early introduction of biologic treatment. Other independent predictors of progression to polyarthritis, were: involvement of upper limb, hip and ankle within 6months following JIA diagnosis and percentage of cumulative time with active disease > 35% within the first year. At the end of the study, both the median JADAS71 score and the Disability Index were significantly lower than the initial (p < 0.001) and remission off medication was achieved in 25% of the patients. Articular and extra-articular (only ocular) cumulative damage was demonstrated only in 5 and 7.5% of patients, respectively. Physical functional ability was found normal/mildly restricted in 93.3% and moderately restricted in 6.7% of the patients. We believe that these findings, fit in with a picture of JIA course and outcome under current conditions of objective "disease status" evaluation and of tightly controlled follow-up. Predictors emerged from our study could contribute to the identification of patients who will need early implementation of biologic treatment.

Predicting unfavorable long-term outcome in juvenile idiopathic arthritis: results from the Nordic cohort study

BackgroundThe aim was to develop prediction rules that may guide early treatment decisions based on baseline clinical predictors of long-term unfavorable outcome in juvenile idiopathic arthritis (JIA).MethodsIn the Nordic JIA cohort, we assessed baseline disease characteristics as predictors of the following outcomes 8 years after disease onset. Non-achievement of remission off medication according to the preliminary Wallace criteria, functional disability assessed by Childhood Health Assessment Questionnaire (CHAQ) and Physical Summary Score (PhS) of the Child Health Questionnaire, and articular damage assessed by the Juvenile Arthritis Damage Index-Articular (JADI-A). Multivariable models were constructed, and cross-validations were performed by repeated partitioning of the cohort into training sets for developing prediction models and validation sets to test predictive ability.ResultsThe total cohort constituted 423 children. Remission status was available in 410 children: 244 (59.5%) of these did not achieve remission off medication at the final study visit. Functional disability was present in 111/340 (32.7%) children assessed by CHAQ and 40/199 (20.1%) by PhS, and joint damage was found in 29/216 (13.4%). Model performance was acceptable for making predictions of long-term outcome. In validation sets, the area under the curves (AUCs) in the receiver operating characteristic (ROC) curves were 0.78 (IQR 0.72–0.82) for non-achievement of remission off medication, 0.73 (IQR 0.67–0.76) for functional disability assessed by CHAQ, 0.74 (IQR 0.65–0.80) for functional disability assessed by PhS, and 0.73 (IQR 0.63–0.76) for joint damage using JADI-A.ConclusionThe feasibility of making long-term predictions of JIA outcome based on early clinical assessment is demonstrated. The prediction models have acceptable precision and require only readily available baseline variables. Further testing in other cohorts is warranted.

PRM94 - Quality of Life of Adults with a History of Juvenile Idiopathic Arthritis: A Systematic Review

Juvenile idiopathic arthritis (JIA) is a rheumatologic disease affecting 1 in 1,000 children resulting in life-long disability. New treatments for JIA have the potential to alter disease course. However, a challenge in economic evaluations of JIA drug treatment is to obtain quality of life (QoL) data, by JIA subtype, related to the transition of care from childhood to adulthood to inform life-time horizon cost effectiveness models. Our objective is to conduct a systematic review to identity QoL of adults with JIA. MEDLINE and EMBASE databases were searched. Studies in English that collected primary data evaluating QoL in adults with a history of JIA were included. Abstracts and full-text were screened independently by 2 reviewers. Data extracted included publication year, QoL instrument, QoL results, and sample size. We identified 1031 articles, and included 15 published between 1997-2017. Fourteen unique questionnaires were completed by 4023 individuals. QoL instruments included 3 generic multi-dimensional, 6 generic uni-dimensional (dimensions: pain, fatigue, well-being, vision, coping), 2 disease-specific multi-dimensional, and 2 generic multi-dimensional utility-based instruments. The most commonly used were the Health Assessment Questionnaire (n=10 studies), and SF-36 (n=9). Disease-specific instruments were Childhood Health Assessment Questionnaire (n=2), and Arthritis Impact Measurement Scale (n=1). Two studies reported EQ5D index scores: 0.902 (range:0.03-1; using German value set), and 0.8 (range:0.1-1; value set undefined). There was significant variability in reporting of QoL results, even within instrument. Few studies reporting utility data were identified, and utilities were not stratified by disease status or subtype. Data reported are not sufficient to inform life-time horizon models. Generic QoL instruments were used more often than disease-specific instruments. The heterogeneity in reporting QoL results highlights the need for standardization. It remains a need for rigorous QoL assessment during and after the transition of care to inform economic evaluations of early interventions.

Depressive symptoms, pain and disability for adolescent patients with juvenile idiopathic arthritis: results from the Childhood Arthritis Prospective Study.

ObjectivesTo determine if depressive symptoms assessed near diagnosis associate with future measures of pain, disability and disease for adolescent patients diagnosed with JIA.MethodsData were analysed from JIA patients aged 11–16 years recruited to the Childhood Arthritis Prospective Study, a UK-based inception cohort of childhood-onset arthritis. Depressive symptoms (using the Mood and Feelings Questionnaire; MFQ), active and limited joint count, disability score (Childhood Health Assessment Questionnaire), pain visual analogue scale and patient’s general evaluation visual analogue scale were collected. Associations between baseline measures (first visit to paediatric rheumatologist) were analysed using multiple linear regression. Linear mixed-effect models for change in the clinical measures of disease over 48 months were estimated including MFQ as an explanatory variable.ResultsData from 102 patients were analysed. At baseline, median (IQR) age was 13.2 years (11.9–14.2 years) and 14.7% scored over the MFQ cut-off for major depressive disorder. At baseline, depressive symptoms significantly associated with all clinical measures of disease (P ⩽ 0.01). High baseline depressive symptoms scores predicted worse pain (P ⩽ 0.005) and disability (P ⩽ 0.001) 12 months later but not active and limited joint counts.ConclusionsAdolescent patients with JIA and depressive symptoms had more active joints, pain and disability at the time of their first specialist appointment. The associations between baseline depression and both pain and disability continued for at least one year, however, this was not the case for active joint count.

Path analysis of strength, spasticity, gross motor function, and health-related quality of life in children with spastic cerebral palsy

BackgroundMeasures of health-related quality of life may predict the future status of individuals with illnesses, and could therefore be a good indicator in children with cerebral palsy (CP). This study examines the causal relationship between spasticity, weakness, gross motor function, and health-related quality of life (QOL) in school-aged children with spastic CP and tests models of functional outcome mediated by gross motor function.MethodsA total of 62 children (44 males, 18 females) with spastic CP were recruited. Strength was assessed with the Manual Muscle Test, spasticity with the Modified Ashworth Scale, and the Gross Motor Function Measure was also employed. Health-related QOL was assessed using the Korean version of the Childhood Health Assessment Questionnaire. Physical therapists interviewed the parents and assessed the children.ResultsThe proposed path model showed good fit indices. The direct effects were significant between spasticity and gross motor function, strength and gross motor function, gross motor function and health-related QOL, and strength and health-related quality of life. Spasticity had a significant positive indirect effect and strength a significant negative indirect effect on health-related QOL through gross motor function.ConclusionThis is an initial study of the causal relationship between strength, spasticity, gross motor function, and health-related QOL.

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

The mucopolysaccharidosis (MPS) constitutes a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans. Several types of MPS are described, historically numbered from I to IX. Clinical observations strongly suggest the presence of chronic pain in patients with all types of MPS. There are few data in the literature on the evaluation and management of pain in these patients, a fact that can compromise the quality of life even more. Professionals with extensive experience in the care for patients with MPS held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of pain in patients with MPS in Latin America. This article summarizes the content of the discussions and presents the recommendations produced at the meeting. Patients with MPS present joint, bone, and muscle pain, as well as entrapment syndromes (spinal, optic nerve, carpal tunnel). The panel suggests the use of the following instruments for pain assessment: Face, Legs, Activity, Cry and Consolability Scale for children of up to four years of age and patients unable to communicate their pain; Child Health Assessment Questionnaire Scale; Facial Pain Scale and Numerical Pain Scale for patients of five to <18 years of age; Brief Pain Inventory and Short Form Health Survey 36 scales for patients aged 18 years or older. Based on the scores verified in these scales, the panel proposes pharmacological interventions for pain relief in this population of patients.

Healthcare Use Patterns and Economic Burden of Chronic Musculoskeletal Pain in Children before Diagnosis

To evaluate the healthcare use and costs of amplified musculoskeletal pain syndrome (AMPS) in children before diagnosis. We performed a retrospective study in children with AMPS at a pediatric rheumatology clinic between 2010 and 2014. Data were abstracted on 80 patients after primary rheumatic diseases were excluded. Healthcare visits, medications and diagnostic testing that occurred in the years before diagnosis were collected. The Medical Expenditure Panel Survey was used to estimate visit costs. Patients were adolescent females (89%) and white (86%). The median time to diagnosis was 10.2 months. The median pain score was 6.5 and the median Childhood Health Assessment Questionnaire score was 1.1. In this cohort, 29% had at least 1 ED visit and 5% were hospitalized. All patients saw a rheumatologist and 41% had visited another specialist, typically orthopedics and sports medicine. More than one-half had at least 1 radiographic study and 21% had at least 1 magnetic resonance imaging. The total cost for office, emergency department, and hospital visits for AMPS in all 80 patients was $152 853. The mean cost per patient over the entire study period (2008-2014) was $1911 ± $3808, and 43% of costs were outpatient visits. Children with AMPS have high levels of disability and take a long time to be diagnosed. As a result, even before diagnosis, they have high levels of healthcare use, diagnostic testing, and medical costs. Early recognition of disability and quicker referral to trained subspecialists may improve the prognosis, reduce unnecessary testing, and reduce the overall costs of healthcare.

Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia‐telangiectasia: a multicenter observer‐blind study

Ataxia-telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life. Successful treatment options are still not available. The aim of this multicenter study, performed with a blind evaluation procedure, was to define the minimal effective dosage of oral betamethasone, thus preventing the occurrence of side effects. Nine A-T patients were enrolled to receive betamethasone at increasing dosages of 0.001, 0.005 and 0.01 mg/kg/day. Neurological assessment and the evaluation of quality of life were performed through the Scale for the Assessment and Rating of Ataxia and the Italian version of the Childhood Health Assessment Questionnaire (CHAQ) at each time-point. The drug safety profile was evaluated. Patients were categorized as responders, partial responders and non-responders. Four of nine patients had a benefit at a dose of 0.005 mg/kg/day of oral betamethasone. Using the higher dosage, only one additional patient had a positive response. Conversely, a daily dose of 0.001 mg/kg was ineffective. A correlation between the serum adrenocorticotropic hormone levels and the clinical response was observed. Five of 30 CHAQ items improved in four patients. These data suggest that a short-term betamethasone oral treatment, at a daily dosage of 0.005 mg/kg, is effective in some patients. Pre-existing risk factors for side effects should be taken into account before therapy.

The correlation between the Childhood Health Assessment Questionnaire and disease activity in juvenile idiopathic arthritis.

The Childhood Health Assessment Questionnaire (CHAQ) has been adapted from the Stanford Health Assessment Questionnaire for assessing functional ability in children. The present study aimed to determine the correlation between CHAQ and disease activity in juvenile idiopathic arthritis (JIA) during active and inactive disease. JIA patients in the Pediatric Department, Ramathibodi Hospital, between January 2011 and December 2013, were included in the study. The CHAQ disability index (DI) and disease activity variables, including active and limited joint count, erythrocyte sedimentation rate, patient's global assessment (PtGA), physician's global assessment (PGA) and 27-joint Juvenile Arthritis Disease Activity Score (JADAS27), were collected from medical records for each patient over six visits. At each visit, each patient was classified as having either active or inactive disease. The correlations between CHAQ-DI and disease activity variables were analysed using Spearman's correlation. The classification of 139 JIA patients consisted of enthesitis-related arthritis (30.9%), systemic JIA (28.1%), oligoarthritis (16.5%), rheumatoid factor (RF)-negative polyarthritis (15.1%), RF-positive polyarthritis (6.5%) and undifferentiated arthritis (2.9%). Out of 812 patient visits, 606 were in active disease and 206 were in inactive disease. RF-negative polyarthritis had the highest CHAQ-DI (0.39 ± 0.66), while oligoarthritis had the lowest (0.20 ± 0.32). There was a good correlation between CHAQ-DI and JADAS27, PGA and PtGA in all JIA subtypes (p < 0.05) during active disease, but a poor correlation between CHAQ-DI and disease activity variables during inactive disease. CHAQ-DI had a good correlation with disease activity during active disease but a poor correlation during inactive disease. Therefore, CHAQ is only useful for assessing functional ability during active disease.

Clinical Outcome Assessments: Use of Normative Data in a Pediatric Rare Disease

Pediatric rare diseases present unique challenges in clinical trial design and in selection of clinical outcome assessments (COAs) used to support claims in medical product labeling. COAs that discriminate level of function relative to a normative sample are particularly important in the pediatric rare disease setting because the literature is often void of natural history data. Pediatric rare disease clinical trials will often include a wide age distribution. Gross and fine motor skills, communication, cognition, and independence in activities of daily living vary by age, and it may be difficult to distinguish between treatment effect and change due to developmental maturation. Asfotase alfa was granted breakthrough therapy designation and subsequently approved for the treatment of hypophosphatasia (HPP; a genetic metabolic musculoskeletal disorder) and is used in this discussion to illustrate COA selection in a pediatric rare disease. Multiple COAs with normative data in HPP clinical trials for asfotase alfa are presented. The assessment instruments included the Bayley Scales of Infant and Toddler Development-Third Edition, the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition, the Childhood Health Assessment Questionnaire, the Pediatric Outcomes Data Collection Instrument, handheld dynamometry, the 6-minute walk test, and the Modified Performance-Oriented Mobility Assessment-Gait scale. Multiple end points were required to adequately capture the impact of asfotase alfa treatment on the multiple systems affected in HPP. These data illustrate the importance of using multiple COAs that provide normative data and to use COAs early in the drug development process for rare pediatric disease.

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HPP during growth often manifests with distinctive radiographic skeletal features, no validated method was available to quantify them, including changes over time. We created the Radiographic Global Impression of Change (RGI-C) scale to assess changes in the skeletal burden of pediatric HPP. Site-specific pairs of radiographs of newborns, infants, and children with HPP from three clinical studies of asfotase alfa, an enzyme replacement therapy for HPP, were obtained at baseline and during treatment. Each pair was scored by three pediatric radiologists ("raters"), with nine raters across the three studies. Intrarater and interrater agreement was determined by weighted Kappa coefficients. Interrater reliability was assessed using intraclass correlation coefficients (ICCs) and by two-way random effects analysis of variance (ANOVA) and a mixed-model repeated measures ANOVA. Pearson correlation coefficients evaluated relationships of the RGI-C to the Rickets Severity Scale (RSS), Pediatric Outcomes Data Collection Instrument Global Function Parent Normative Score, Childhood Health Assessment Questionnaire Disability Index, 6-Minute Walk Test percent predicted, and Z-score for height in patients aged 6 to 12 years at baseline. Eighty-nine percent (8/9) of raters showed substantial or almost perfect intrarater agreement of sequential RGI-C scores (weighted Kappa coefficients, 0.72 to 0.93) and moderate or substantial interrater agreement (weighted Kappa coefficients, 0.53 to 0.71) in patients aged 0 to 12 years at baseline. Moderate-to-good interrater reliability was observed (ICC, 0.57 to 0.65). RGI-C scores were significantly (p ≤ 0.0065) correlated with the RSS and with measures of global function, disability, endurance, and growth in the patients aged 6 to 12 years at baseline. Thus, the RGI-C is valid and reliable for detecting clinically important changes in skeletal manifestations of severe HPP in newborns, infants, and children, including during asfotase alfa treatment. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.

Long-term outcomes and predictors of biologic treatment in systemic juvenile idiopathic arthritis in a single-center experience in Thailand

Background: The outcomes of systemic juvenile idiopathic arthritis (SJIA) vary from mild disability to mortality. Due to the socioeconomic problems in Thailand, the delay in receiving some medications, especially biologic agents, might affect the outcomes of this disease. This study aimed to determine the long-term outcomes and predictors of biologic treatment in SJIA patients. Methods: Patients with SJIA were enrolled over the study period between April 1997 and January 2015. The data were collected from medical records at the initial presentation and the most recent clinical visit. Outcomes evaluated included disease status, functional impairment, and joint destruction. Results: Of the 68 SJIA patients, 64 (94%) were eligible. The median (interquartile range) age at disease onset and duration of follow-up were 4.4 (2.9–7.9) and 4.2 (2.3–5.9) years, respectively. Nine patients (14%) achieved complete remission, while 12 (18.8%) had persistent active disease and 3 patients died; 2 of them had macrophage activation syndrome, while the other had a severe infection. A predictor of moderate-to-severe disability (childhood health assessment questionnaire ≥0.75) was hip involvement (odds ratios [OR] 27, 95% confidence interval [CI] 3.20–228.05). In addition, the predictors of biologic treatment were female gender (OR 6.4, 95% CI 1.74–23.74), younger age of onset (OR 4.7, 95% CI 1.31–16.66), hepatosplenomegaly (OR 5.9, 95% CI 1.29–27.29), and positive antinuclear antibody (ANA) (OR 6.3, 95% CI 1.19–33.75). Bone erosion was found in 34.2% of SJIA patients. Conclusion: Hip involvement was the important predictor of moderate-to-severe disability in SJIA, whereas female gender, younger age of onset, hepatosplenomegaly, and positive ANA were the predictors of biologic treatment.

Predictors of disability in a childhood-onset systemic lupus erythematosus cohort: results from the CARRA Legacy Registry.

Objective Few descriptions of physical disability in childhood-onset SLE (cSLE) exist. We sought to describe disability in a large North American cohort of patients with cSLE and identify predictors of disability. Methods Sociodemographic and clinical data were obtained from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry for patients with cSLE enrolled between May 2010 and October 2014. The Childhood Health Assessment Questionnaire (CHAQ) was used to assess disability and physical functioning. Chi-square tests were used for univariate analyses, and multivariate logistic regression was used to assess predictors of disability. Results We analyzed data for 939 patients with cSLE. The median and mean CHAQ scores were 0 and 0.25, respectively, and 41% of the cohort had at least mild disability. Arthritis and higher pain scores were significantly associated with disability as compared to those without disability ( p < 0.001). In multivariate logistic regression analysis, low annual income, arthritis, and higher pain scores were associated with disability at baseline. Conclusions Disability as measured by baseline CHAQ was fairly common in cSLE patients in the CARRA Legacy Registry, and was associated with low household income, arthritis, and higher pain scores. In addition to optimal disease control, ensuring psychosocial supports and addressing pain may reduce disability in cSLE. Further study is needed of disability in cSLE.

Validation of the Standardized Universal Pain Evaluations for Rheumatology Providers for Children and Youth (SUPER-KIDZ).

Study Design Longitudinal observational clinimetric study with repeated measures. Background No validated multidimensional pain measure for children and youth with juvenile idiopathic arthritis exists. Objective To determine the test-retest reliability, construct validity, and responsiveness of English and French versions of the Standardized Universal Pain Evaluations for Rheumatology Providers for Children and Youth (SUPER-KIDZ). Methods Measurement properties of the SUPER-KIDZ (older child, younger child, and parent versions) were prospectively evaluated in patients (aged 4 to 18 years) with juvenile idiopathic arthritis at 2 centers. Internal consistency of the 3 subscales was measured using ordinal reliability alpha. Test-retest reliability for each subscale was evaluated with intraclass correlation coefficients (ICCs) from participants assumed to have stable pain (over a 1-week period with no change in treatment). Correlations of SUPER-KIDZ scores with validated measures determined construct validity. Responsiveness of SUPER-KIDZ subscales was evaluated in patients with improvement in pain, using standardized response mean and linear mixed-model regression. Results Seventy-one children aged 8 to 18 years and 29 parent-child dyads aged 4 to 7 years were included. Seventy-four percent of participants were female, with a median of 3 active joints (interquartile range, 1-5). Internal consistency was strong (α = .78-.96) for pain characteristics, interference, and emotional functioning SUPER-KIDZ subscales. Good test-retest reliability (ICC≥0.80) was found for the pain characteristics subscale in older- and younger-child versions. Most other subscales had satisfactory reliability coefficients (ICC≥0.70). Correlations of 0.50 or greater were found between the older-child SUPER-KIDZ scores and the Childhood Health Assessment Questionnaire and Patient-Reported Outcomes Measurement Information System depressive symptoms items, as well as the younger-child pain-intensity item and the Faces Pain Scale-Revised. Strong responsiveness was found for all subscales (standardized response mean, 0.63-1.54; significant linear mixed-model regression), except for the older-child emotional functioning subscale. Conclusion The SUPER-KIDZ has shown good internal consistency and responsiveness, and satisfactory test-retest reliability. Construct validity was moderate for the younger- and older-child versions, but weak for the parent version. J Orthop Sports Phys Ther 2017;47(10):731-740. Epub 4 Sep 2017. doi:10.2519/jospt.2017.7375.

Is a modified version of the Childhood Health Assessment Questionnaire (CHAQ) a useful tool to identify the level of disability in children with osteogenesis imperfecta?

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Prominent midfoot involvement in children with enthesitis-related arthritis category of juvenile idiopathic arthritis.

Foot involvement is common in juvenile idiopathic arthritis (JIA) but is often unrecognized and difficult to treat. This study was done to assess clinical and radiological involvement of the feet and its impact on function in Indian children with enthesitis-related arthritis (ERA). We enrolled consecutive children with ERA with disease duration of less than 5years. All patients underwent clinical examination of the feet and filled the juvenile arthritis foot index (JAFI) questionnaire. Ultrasound (US) of foot joints and entheses and extremity magnetic resonance imaging (MRI) scan of one foot were done. Fifty-five patients (53 boys), with median 14years and disease duration 1.9years, were included. Thirty-seven of 46 were HLA-B27-positive. Mean juvenile spondyloarthritis disease activity (JSpADA) index and juvenile idiopathic arthritis disease activity scrore-10 (JADAS10) scores were 4 and 14.25. Forty-six had history of foot pain, 36 had foot involvement on examination (15 ankle, 8 subtalar, 24 midfoot, 10 forefoot, and 21 tendoachilles), and 7 had plantar fascia involvement. On US (N=55), 16 had ankle involvement and 8 had subtalar involvement, and 19 patients had midfoot arthritis, 24 had tendoachilles enthesitis, and 11 had plantar fasciitis. On MRI (N=50), 27 had midfoot involvement. Thirty-three had bone edema. Fourteen had midfoot enthesitis and 17 had tenosynovitis. Clinical and US had 82% concordance at the midfoot and 90% at the ankle. MRI had 74% concordance with examination and 72% with US at the midfoot. The median JAFI scores were as follows: total JAFI=4 (0-11), impairment=1, activity limitation=2, and participation restriction=1. JAFI total and individual domains correlated with JADAS10, JSpADAS, and childhood health assessment questionnaire (CHAQ) but not duration of foot disease. JAFI was higher in children with midfoot arthritis on US. Foot joints and entheses are involved in a substantial proportion of patients with ERA patients and the midfoot is commonly involved. Foot disease produces significant functional limitation.

Tumor necrosis factor-α -308 A/G gene polymorphism in children with juvenile idiopathic arthritis: relation to disease activity, damage, and functional status.

The study aims to evaluate the clinical significance of serum levels of tumor necrosis factor alpha (TNF-α) and -308 A/G promoter polymorphism in juvenile idiopathic arthritis (JIA) patients and find any association to the subsets, clinical and laboratory features, disease activity, and damage as well as functional disability. Forty-eight JIA children and 30 controls were included in the present study. Juvenile arthritis disease activity score in 27 joints (JADAS-27) was calculated, juvenile arthritis damage index (JADI) was assessed, and Childhood Health Assessment Questionnaire (CHAQ) measured the functional status. Serum TNF-α was assayed by ELISA and gene (-308) promoter polymorphism was determined by polymerase chain reaction. The 48 JIA children (mean age 11.5±2.8years) were 13 systemic, 17 oligoarticular, and 18 polyarticular onset. The serum TNF-α was significantly higher in patients (90.4±6.3ng/ml) compared to control (3.5±2.6ng/ml) (p<0.0001) with a tendency to be higher in the polyarticular subtype. All controls had TNF-α -308 GG alleles. The frequency of GG genotype tended to be higher in systemic onset compared to oligoarticular and polyarticular subtypes. The serum TNF-α significantly correlated with JADAS-27 (r=0.32, p=0.03) and CHAQ (r=0.37, p=0.01) and negatively with the presence of GG alleles (r=-0.48, p=0.001). The GG alleles were significantly negatively associated with C-reactive protein (r=-0.32, p=0.03) with a tendency to negatively correlate with JADAS-27, CHAQ, and JADI-extrarticular (r=-0.28, p=0.06; r=-0.25, p=0.09 and r=-0.25, p=0.09, respectively). There is evidence of a possible influence of the -308 SNP promoter position on the production of TNF-α, the severity of JIA which may consequently influence the response to anti-TNF-α treatment.

The Effect of Whole Body Vibration Training on Bone and Muscle Function in Children With Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) is associated with reduced muscle size, dynamic muscle function, and mobility. To assess the effect of whole body vibration (WBV) on bone density and geometry, muscle size and function, mobility, and balance in children with OI. Randomized controlled pilot trial. Tertiary pediatric research center. Twenty-four children (5 to 16 years) with OI types 1, 4, and limited mobility [Child Health Assessment Questionnaire (CHAQ) score ≥ 0.13] recruited in sex- and pubertal stage-matched pairs. Incident fractures in two boys (WBV arm) led to exclusion of two prepubertal pairs. Five months of WBV training (3 × 3 minutes twice daily) or regular care. Bone and muscle variables measured by dual-energy X-ray absorptiometry (spine, hip, total body) and peripheral quantitative computed tomography (tibia). Mobility assessed by 6-minute walk tests and CHAQ; dynamic muscle function by mechanography. All participants had reduced walking distances and muscle function (P < 0.001). Body mass index z score was associated with higher CHAQ scores (ρ + 0.552; P = 0.005) and lower walking and two-leg jumping performance (ρ - 0.405 to -0.654, P < 0.05). The WBV and control groups did not differ in the 5-month changes in bone. Total lean mass increased more in the WBV group [+1119 g (+224 to +1744)] compared with controls [+635 g (-951 to +1006)], P = 0.01, without improving mobility, muscle function, or balance. The increase in lean mass without changes in muscle function or bone mass suggests reduced biomechanical responsiveness of the muscle-bone unit in children with OI.

Temporomandibular Joint Involvement in Association With Quality of Life, Disability, and High Disease Activity in Juvenile Idiopathic Arthritis.

To evaluate the demographic, disease activity, disability, and health-related quality of life (HRQOL) differences between children with juvenile idiopathic arthritis (JIA) and their healthy peers, and between children with JIA with and without clinical temporomandibular joint (TMJ) involvement and its determinants. This study is based on a cross-sectional cohort of 3,343 children with JIA and 3,409 healthy peers, enrolled in the Pediatric Rheumatology International Trials Organisation HRQOL study or in the methotrexate trial. Potential determinants of TMJ involvement included demographic, disease activity, disability, and HRQOL measures selected through univariate and multivariable logistic regression. Clinical TMJ involvement was observed in 387 of 3,343 children with JIA (11.6%). Children with TMJ involvement, compared to those without, more often had polyarticular disease course (95% versus 70%), higher Juvenile Arthritis Disease Activity Score (odds ratio [OR] 4.6), more disability, and lower HRQOL. Children with TMJ involvement experienced clearly more disability and lower HRQOL compared to their healthy peers. The multivariable analysis showed that cervical spine involvement (OR 4.6), disease duration >4.4 years (OR 2.8), and having more disability (Childhood Health Assessment Questionnaire Disability Index >0.625) (OR 1.6) were the most important determinants for TMJ involvement. Clinical TMJ involvement in JIA is associated with higher disease activity, higher disability, and impaired HRQOL. Our findings indicate the need for dedicated clinical and imaging evaluation of TMJ arthritis, especially in children with cervical spine involvement, polyarticular course, and longer disease duration.