Long-term evaluation of hand function in children undergoing Oberlin and Oberlin-like procedures for reinnervation of the biceps muscle.

PURPOSE: Long-term evaluation of hand function in children who underwent transfer procedures to reinnervate the biceps muscle, using fascicles from the ulnar and median nerves as donors. METHODS: In the last follow-up evaluation, the children underwent a neurological examination, and their hand status was classified according to the Raimondi grading system for hand function. Two physical measurements, the child health assessment questionnaire (CHAQ) and the Sollerman hand function test, were applied to assess upper extremity function. RESULTS: Eight children were re-evaluated. In four the donor fascicle was from the ulnar nerve and in four from the median nerve. The average interval between surgery and the last evaluation was 8.3 years (range 6-10 years). Five patients scored 5 points in the Raimondi grading system, and 3 patients scored 4 points. The results from the CHAQ ranged from 0.03 to 0.41. The results from the Sollerman test were between 60 and 77 for the affected upper limb and between 65 and 79 for the dominant upper limb. CONCLUSION: Nerve transfer of a fascicle from the ulnar or median nerve to the biceps motor branch in children with neonatal brachial plexus palsy does not result in hand dysfunction.

Updated version of Japanese Childhood Health Assessment Questionnaire (CHAQ).

Objectives: The Childhood Health Assessment Questionnaire (CHAQ) is one of the most widely used self- report questionnaires to measure functional status in Juvenile idiopathic arthritis (JIA). The Japanese version of the CHAQ (JCHAQ) has been revised to meet requirements of clinical international trials which need the same number of questions in each functional area of the CHAQ.Methods: The original JCHAQ consisted of 36 items, measuring eight functional areas. This was changed to 30 items of questionnaire so that each functional area has same number of questions as the original US English version. The revised version was professionally translated from English to Japanese, reviewed, and validated with Japanese JIA patients.Results: A total of 42 JIA patients were enrolled in the validation: seven systemic, 30 polyarticular/oligoarticular and five enthesis related. Most patients were well controlled and the median disability index (DI) scores was 0.0 [0-0.03]; however, significant correlation was seen with visual analog scale (VAS) of pain, VAS overall well-being, physician VAS, DAS (Disease Activity Score) 28-ESR, and JADAS (Juvenile Arthritis Disease Activity Score)-27. In comparison of two groups of disease activity, remission or inactive/low disease activity vs. moderate/high disease activity, both DAS28-ESR and JADAS-27 showed significant correlation with DI.Conclusion: The updated JCHAQ was a reliable and valid tool for the functional assessment of children with JIA. It is more suitable for international and transitional comparison.

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.

Functional status of Indian children with juvenile idiopathic arthritis.

Background and Objectives: The functional disability status of Indian children with juvenile idiopathic arthritis is unidentified. In this cross-sectional study functional capacity of 60 juvenile idiopathic arthritis patients was assessed by the Childhood Health Assessment Questionnaire. Methods: A total of 60 juvenile idiopathic arthritis patients aged ranges from 1 to 12 years were recruited from a teaching hospital in eastern India. A childhood health assessment questionnaire was used to assess the functional health of children. Pain, patient's/parent's global assessment of general well-being, and physician's global assessment were assessed. Results: Childhood health assessment questionnaire disability index for oligoarticular juvenile idiopathic arthritis differed significantly from polyarticular juvenile idiopathic arthritis (P < 0.001), systemic-onset juvenile idiopathic arthritis (P = 0.018) and undifferentiated juvenile idiopathic arthritis (P < 0.001). There was a good to a strong positive correlation between the childhood health assessment questionnaire disability index with pain score, patient's/parent's global assessment score, and physician global assessment score for the total juvenile idiopathic arthritis cohort. regarding juvenile idiopathic arthritis subtypes, significant correlations were noted between the childhood health assessment questionnaire disability index with the patient's/parent's global assessment and physician's global assessment (except for enthesitis-related arthritis). Conclusions: Assessment and documentation of the functional health status of juvenile idiopathic arthritis patients will improve the management of the disease.

Effects of Pilates exercises on health-related quality of life in individuals with juvenile idiopathic arthritis.

OBJECTIVE: To determine the effects of Pilates exercises on health-related quality of life (HRQOL) in individuals with juvenile idiopathic arthritis (JIA). DESIGN: Randomized, prospective, single-blind trial. SETTING: Outpatient clinic of pediatric rheumatology and the rehabilitation department. PARTICIPANTS: Children (N=50) with JIA according to the International League of Associations for Rheumatology criteria. INTERVENTIONS: Participants were randomly assigned into 2 groups. In group I (n=25), the participants were given a conventional exercise program for 6 months. Patients in group II (n=25) participated in a Pilates exercise program for 6 months. MAIN OUTCOME MEASURES: The primary outcome measure was HRQOL, as measured by the Pediatric Quality of Life Inventory version 4.0 (PedsQL 4.0). The secondary outcome measures provided an estimate of the clinical relevance of the primary outcome results and included joint pain intensity (according to a 10-cm visual analog scale), disability (according to the Childhood Health Assessment Questionnaire), joint status (using the Pediatric Escola Paulista de Medicina Range of Motion Scale), and the total PedsQL 4.0 score. RESULTS: All participants completed the study. The scores of the PedsQL 4.0 differed significantly between groups, indicating that Pilates exercises increased these scores when compared with the conventional exercise program. Group II participants showed significant improvements in the 10-cm visual analog scale-joint pain, Childhood Health Assessment Questionnaire, and Pediatric Escola Paulista de Medicina Range of Motion Scale. CONCLUSIONS: The use of Pilates exercises had a positive physical and psychosocial impact on HRQOL in individuals with JIA. Future multicenter studies with a follow-up beyond the period of treatment using more objective parameters will be useful to support the results of the present study.

The clinical features of juvenile dermatomyositis: A single-centre inception cohort.

INTRODUCTION: Juvenile Dermatomyositis (JDM), a severe and rare autoimmune disease, is the most common idiopathic inflammatory myopathy in children. We describe the clinical features of a large single-centre cohort. METHODS: We studied an inception cohort (0-18 years old) referred for diagnosis to the JDM clinic at The Hospital for Sick Children (SickKids), between January 1989 and September 2017. Probable or definite diagnosis of JDM was done according to the 2017 ACR/EULAR Criteria. We excluded children who had treatment started at another hospital. The data were collected retrospectively from clinical charts and the SickKids JDM database. RESULTS: 172/230 (74.8%) patients were included. They were most often female (female:male = 1.8:1); the age at diagnosis was 8.5±4.3 years. There was a positive family history for autoimmune disease in 52%, mainly rheumatoid arthritis. No patient died. The most common signs at inception were muscle weakness (85.5%), nailfold capillary abnormalities (83.4%), Gottron papules (78.5%), heliotrope rash (66.3%), abnormal gait (55.8%), and malar/facial rash (54.7%). The prevalence of Gottron papules, heliotrope rash, facial/malar rash, nailfold capillary abnormalities, Raynaud phenomenon, dysphonia/dysphagia (a frequent cause of hospitalization), mouth ulcers, calcinosis, eye problems, joint involvement, acanthosis nigricans and lipodystrophy increased during follow-up. Muscle enzymes, namely CK, ALT, AST, were often normal or only slightly raised despite active muscle disease; conversely LD was often high. Anti-Nuclear Autoantibodies were positive in 49.7% of patients at diagnosis. The course of the disease was: 29.1% monocyclic, 5.3% polycyclic, 33.1% chronic. The course of 56 patients (32.5%) was not classifiable due to length of follow-up. Corticosteroids were used as treatment in almost all our patients and 30% required intravenous therapy due to the severity of the presentation; methotrexate was added in 64%, more often in recent years. Unresponsive patients were treated mostly with intravenous immunoglobulins (IVIG). CONCLUSIONS: The information obtained from this relatively large number of patients adds to the growing knowledge base of this rare disease. TRIAL REGISTRATION: SickKids Research Ethics Board approved the study.

Electronic forms for patient reported outcome measures (PROMs) are an effective, time-efficient, and cost-minimizing alternative to paper forms.

BACKGROUND: Patient reported outcome measures (PROMs) provide valuable insight on patients' well-being and facilitates communication between healthcare providers and their patients. The increased integration of the technology within the healthcare setting presents the opportunity to collect PROMs electronically, rather than on paper. The Childhood Health Assessment Questionnaire (CHAQ) and Quality of My Life (QoML) are common PROMs collected from pediatric rheumatology patients. The objectives of this study are to (a) determine the equivalence of the paper and electronic forms (e-form) of CHAQ and QoML questionnaires; (b) identify potential benefits and barriers associated with using an e-form to capture PROMs; and (c) gather feedback on user experience. METHODS: Participants completed both a paper and an e-form of the questionnaires in a randomized order, following which they completed a feedback survey. Agreement of the scores between the forms were statistically analyzed using the intraclass correlation coefficient (ICC) (95 % Confidence Interval (CI)) and bias was assessed using a Bland-Altman plot. Completion and processing times of the forms were compared using mean and median measures. Quantitative analysis was performed to assess user experience ratings, while comments were qualitatively analyzed to identify important themes. RESULTS: 196 patients participated in this project. Scores on the forms had high ICC agreement > 0.9. New patients took longer than returning patients to complete the forms. Overall, the e-form was completed and processed in a shorter amount of time than the paper form. 83 % of survey respondents indicated that they either preferred the e-form or had no preference. Approximately 10 % of respondents suggested improvements to improve the user interface. CONCLUSIONS: E-forms collect comparable information in an efficient manner to paper forms. Given that patients and caregivers indicated they preferred completing PROMs in this manner, we will implement their suggested changes and incorporate e-forms as standard practice for PROMs collection in our pediatric rheumatology clinic.

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 ± 2.8 years) were 13 systemic, 17 oligoarticular, and 18 polyarticular onset. The serum TNF-α was significantly higher in patients (90.4 ± 6.3 ng/ml) compared to control (3.5 ± 2.6 ng/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.

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.

BACKGROUND: Information regarding the long-term outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB, galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.) for Taiwanese patients with mucopolysaccharidosis (MPS) VI is limited. METHODS: Nine Taiwanese patients with MPS VI (4 males and 5 females; age range, 1.4 to 21.1 years) treated with weekly intravenous infusions of galsulfase (1.0 mg/kg) in 5 medical centers in Taiwan were reviewed. A set of biochemical and clinical assessments were evaluated annually. RESULTS: After 6.2 to 11.2 years of galsulfase treatment, 6 patients experienced improvement over baseline in the 6-minute walk test by a mean of 150 m (59% change over time), and 3 patients also increased the 3-minute stair climb test by a mean of 60 steps (46%). In a manual dexterity test, 3 patients decreased the time required to pick up 10 coins and put the coins into a cup by 15 s (33%). Shoulder range of motion in all 9 patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.42 points (21%). Four patients showed improved pulmonary function. Five patients had positive effects on cardiac-wall diameters. Four patients had improved cardiac diastolic function. Liver and spleen sizes as measured by abdominal ultrasonography remained the same or decreased in all 9 patients. However, the severity degree of valvular stenosis or regurgitation did not show improvement despite ERT. A mean overall 69% decrease in urinary glycosaminoglycan (GAG) excretion indicated a satisfactory biomarker response. CONCLUSIONS: Long-term ERT was beneficial and safe for Taiwanese patients with MPS VI. This treatment reduced urinary GAG and had positive effects on a wide range of clinical functional assessments including endurance, mobility, joint function, pulmonary function, liver and spleen size, cardiac hypertrophy and diastolic dysfunction.

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)

Abstract Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impaired hearing and speech, recurrent infections, skeletal abnormalities, muscular pain, and weakness. This study aimed to investigate disability, pain, and overall health using the Childhood Health Assessment Questionnaire (CHAQ) and the EuroQol 5 Dimension-5 Level Questionnaire (EQ-5D-5L) in patients with alpha-mannosidosis participating in rhLAMAN-10, a phase III open-label, clinical trial of velmanase alfa, a recombinanthumanlysosomalalpha-mannosidase. Long-termprognosesformost patients withuntreatedalpha-mannosidosisarepoor due to progressive neuromuscular, skeletal, and intellectual deterioration, leading to increased dependence in mobility and activities of daily living and increased caregiver and health-care burden. Long-term CHAQ and EQ-5D-5L data highlight improvement trends in health-related quality of life and a reduction in disability and pain in patients receiving up to 48 months of velmanase alfa treatment.