HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within the MHC locus on chromosome 6 influences sJIA susceptibility, we performed an association study of 982 children with sJIA and 8,010 healthy control subjects from nine countries. Using meta-analysis of directly observed and imputed SNP genotypes and imputed classic HLA types, we identified the MHC locus as a bona fide susceptibility locus with effects on sJIA risk that transcended geographically defined strata. The strongest sJIA-associated SNP, rs151043342 [P = 2.8 × 10(-17), odds ratio (OR) 2.6 (2.1, 3.3)], was part of a cluster of 482 sJIA-associated SNPs that spanned a 400-kb region and included the class II HLA region. Conditional analysis controlling for the effect of rs151043342 found that rs12722051 independently influenced sJIA risk [P = 1.0 × 10(-5), OR 0.7 (0.6, 0.8)]. Meta-analysis of imputed classic HLA-type associations in six study populations of Western European ancestry revealed that HLA-DRB1*11 and its defining amino acid residue, glutamate 58, were strongly associated with sJIA [P = 2.7 × 10(-16), OR 2.3 (1.9, 2.8)], as was the HLA-DRB1*11-HLA-DQA1*05-HLA-DQB1*03 haplotype [6.4 × 10(-17), OR 2.3 (1.9, 2.9)]. By examining the MHC locus in the largest collection of sJIA patients assembled to date, this study solidifies the relationship between the class II HLA region and sJIA, implicating adaptive immune molecules in the pathogenesis of sJIA.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However, approximately half of children with sJIA develop destructive, long-standing arthritis that appears similar to other forms of JIA. Using genomic approaches, we sought to gain novel insights into the pathophysiology of sJIA and its relationship with other forms of JIA. METHODS: We performed a genome-wide association study of 770 children with sJIA collected in nine countries by the International Childhood Arthritis Genetics Consortium. Single nucleotide polymorphisms were tested for association with sJIA. Weighted genetic risk scores were used to compare the genetic architecture of sJIA with other JIA subtypes. RESULTS: The major histocompatibility complex locus and a locus on chromosome 1 each showed association with sJIA exceeding the threshold for genome-wide significance, while 23 other novel loci were suggestive of association with sJIA. Using a combination of genetic and statistical approaches, we found no evidence of shared genetic architecture between sJIA and other common JIA subtypes. CONCLUSIONS: The lack of shared genetic risk factors between sJIA and other JIA subtypes supports the hypothesis that sJIA is a unique disease process and argues for a different classification framework. Research to improve sJIA therapy should target its unique genetics and specific pathophysiological pathways.

Fatigue in children with juvenile idiopathic arthritis: reliability of the "Pediatric Quality of Life Inventory-Multidimensional Fatigue Scale".

The aim of the study was (1) to translate the "Pediatric Quality of Life Inventory-Multidimensional Fatigue Scale" (PedsQL-Fatigue) into Brazilian Portuguese language and culture and evaluate its reliability and (2) to measure fatigue among patients with juvenile idiopathic arthritis (JIA): (1) Translation of the PedsQL-Fatigue by two bilingual researchers; (2) Backtranslation into English assessed by the authors of the original version; (3) Pilot study with five patients followed in the Pediatric Rheumatology Outpatient Clinic and their parents; and (4) Field study and assessment of measurement properties (internal consistency, reproducibility, and construct validity). In this stage, the scale was administered to 67 patients with JIA and 63 healthy individuals, aged from 2 to 18 years old, matched by age (from 2 to 4, 5 to 7, 8 to 12, and from 13 to 18 years old). Cronbach's alpha coefficient ranged from 0.6 to 0.8 for children and parents, indicating the instrument's good internal consistency. The scale's construct validity was confirmed by a satisfactory Spearman's coefficient between the PedsQL-Fatigue and the generic PedsQL 4.0 (0.840 for the children and 0.742 for the parents). Reproducibility was also adequate (0.764 for the children and 0.938 for the parents). No differences were found between the scores obtained by the JIA group and control group, though lower scores were observed among patients with clinically active JIA when compared to those without clinical activity. The PedsQL-Fatigue is a valid and reliable tool, and that can be used to measure fatigue among patients with JIA.

Immune response and tolerability of varicella vaccine in children and adolescents with systemic lupus erythematosus previously exposed to varicella-zoster virus.

OBJECTIVES: The aim of the present paper is to evaluate the immune response and tolerability of varicella vaccine in children and adolescents with systemic lupus erythematosus previously exposed to varicella-zoster virus. METHODS: We performed a prospective and controlled study on a group of 54 SLE patients that were chosen at random to be or not to be vaccinated (28 were vaccinated and 26 were not). Twenty-eight healthy controls, of matching age and sex were also vaccinated. All were submitted to a questionnaire, physical evaluation and laboratory assays: lymphocyte immune-phenotyping by flow cytometry, plasma varicella zoster virus (VZV) serology by ELISA and in vitro interferon gamma (IFNγ) production by T-cells after stimulus with VZV antigen. They were evaluated before vaccination and at 30, 45, 180 and 360 days afterwards. RESULTS: We did not observe any differences in the frequency of adverse events in both vaccinated groups. At study entry, all individuals were seropositive for VZV antibodies. The serum VZV antibody titres similarly increased after vaccination. The frequency of flares and the SLEDAI score were also similar among the patients. Thirty days after vaccination the production of IFNγ specific to VZV was lower in the SLE group compared to healthy controls. In the follow-up we observed 4 cases of herpes zoster in the SLE unvaccinated group, but no zoster in the vaccinated group. CONCLUSIONS: The varicella vaccine was well tolerated in SLE group, who had pre-existing immunity to varicella. The varicella vaccine immunogenicity measurement by serum antibody titres was appropriate. The incidence of HZ was lower in the vaccinated lupus group.

Detection of multifocal osteonecrosis in an adolescent with dermatomyositis using whole-body MRI.

Osteonecrosis is a well-recognized complication of corticosteroid use resulting in significant morbidity, often requiring surgical intervention. Whole-body MRI is a promising method that allows imaging of the whole patient in a reasonable time without the use of ionizing radiation. This technique has the potential for evaluating nonmalignant multifocal skeletal disease like osteonecrosis. This case highlights the value of whole-body MR in an adolescent with dermatomyositis who developed multifocal osteonecrosis.

Quality of life of children and adolescents from São Paulo: reliability and validity of the Brazilian version of the Pediatric Quality of Life Inventory version 4.0 Generic Core Scales.

OBJECTIVES: To evaluate the reliability and validity of the Brazilian version of the Pediatric Quality of Life Inventory (PedsQL 4.0) Generic Core Scales and measure the quality of life of healthy children and adolescents and patients with rheumatic diseases. METHODS: We followed the translation methodology proposed by the developer of the original English version of the PedsQL 4.0. The instrument was administered by interviews in two groups: 240 apparently healthy children and adolescents from São Paulo (SP, Brazil) and 105 patients with chronic rheumatic diseases matched by age, as well as their respective parents or caregivers. The parent proxy-report was administered to the children's parents or caregivers separately on the same day. RESULTS: Cronbach's alpha values were between 0.6 and 0.9 for all dimensions, demonstrating adequate internal consistency. Patients with rheumatic diseases reported significantly lower PedsQL scores on all dimensions when compared to the healthy control group (p < 0.0001). Construct validity of the Brazilian Portuguese version of the PedsQL 4.0 was also confirmed. Parent proxy-report of patients with rheumatic diseases highly correlated with child self-report for physical functioning (r = 0.77, p < 0.001) and school functioning (r = 0.73, p < 0.001). Lower correlations were observed for emotional and social functioning (r = 0.40 and 0.59, respectively, p < 0.001). CONCLUSIONS: The tool demonstrated reliability, validity, and the administration was fast and easy. Quality of life in patients with rheumatic diseases was significantly lower than in the healthy control group, supporting the necessity of a comprehensive approach to rheumatic disease management, focused on the psychosocial dimensions.

Henoch-Schönlein purpura: recurrence and chronicity.

OBJECTIVES: To describe a group of patients treated at our service for Henoch-Schönlein purpura, with emphasis on recurrent and chronic cases, and to compare clinical and demographic characteristics of patients with monocyclic and recurrent disease. METHODS: Data on 67 patients who had been treated since disease onset were analyzed. Twelve patients were excluded because they failed to return for follow-up consultations after less than 3 months, leaving a total of 55 children in the study sample. Recurrence was defined as the presence of a fresh episode after a period of at least 3 months without symptoms, and cases were defined as chronic when cutaneous, abdominal and renal manifestations persisted for a period of 12 months or more. RESULTS: Recurrence was observed in 8/55 patients (14.4%) and four cases were chronic (7.2%). In 29/55 patients (52.7%), infection was identified as the trigger factor. A monocyclic clinical course was observed in 43 patients (26 of whom were girls, with a mean age of 5.4 years). Gastrointestinal and renal involvement was observed in 55.8 and 20.9% of patients, respectively. Among the 12 patients with recurrent or chronic Henoch-Schönlein purpura, three had arthritis, four exhibited signs and symptoms of abdominal involvement and seven of kidney disease: microscopic hematuria in five, macroscopic hematuria in one and hematuria with proteinuria in one other. Late onset was the only variable related to recurrence (p < 0.05). CONCLUSIONS: As is observed in medical literature, monocyclic cases are more common among children with early onset disease. Patients with Henoch-Schönlein purpura should be followed over the long term, since recurrent and chronic cases account for more than 20% of the total.

Are temporomandibular joint signs and symptoms associated with magnetic resonance imaging findings in juvenile idiopathic arthritis patients? A longitudinal study.

The aims of this longitudinal study were to perform a comprehensive clinical evaluation of temporomandibular joint (TMJ) and to investigate the association between the clinical and magnetic resonance imaging (MRI) findings in the TMJs of patients with juvenile idiopathic arthritis (JIA). Seventy-five patients with JIA participated in this study. All patients underwent a rheumatological examination performed by a paediatric rheumatologist, a TMJ examination performed by a single dentist and an MRI with contrast of the TMJs. These examinations were scheduled on the same date. The patients were examined again 1 year later. Twenty-eight (37.3 %) patients reported symptoms at the first evaluation and 11 (14.7 %) patients at the second evaluation. In relation to signs, 35 (46.7 %) of the patients presented at least one sign at the first evaluation and 29 (38.7 %) at the second. Intense contrast enhancement of TMJ was significantly associated with disease activity (p < 0.001) at the first evaluation and a trend to significance was observed at the second (p = 0.056), with poly/systemic subtypes (p = 0.028 and p = 0.049, respectively), with restricted mouth opening capacity (p = 0.013 and p = 0.001, respectively), with the presence of erosions at both evaluations (p = 0.0001 and p < 0.0001, respectively) and with altered condylar shape at the second evaluation (p = 0.0005). TMJ involvement is highly prevalent in JIA patients, with asymptomatic children presenting severe structural alterations of the TMJ. The TMJ should always be evaluated in JIA patients, even in the absence of signs and symptoms.

Rheumatic fever and post-streptococcal arthritis.

Rheumatic fever resulting from group A beta-haemolytic Streptococcus infection continues to be a prevalent disease and an important cause of morbidity and mortality in developing countries. Molecular mimicry and CD4 T lymphocytes, interleukins and adhesion molecules play a crucial role in the pathogenesis of this disease. Arthritis, followed by carditis and chorea, are the main manifestations of the disease. Evidence of asymptomatic carditis has been increasing; however, abnormality identified by echo-Doppler evaluation is not considered as a criterion for diagnosis of rheumatic carditis. Benzathine penicillin is still the best therapeutic option for the treatment of streptococcal infection and secondary prophylaxis, due to its efficacy and low cost.

[Bone mineral density in children. Association with musculoskeletal pain and/or joint hypermobility]. / Densidade mineral óssea em crianças. Associação com dor músculo-esquelética e/ou hipermobilidade articular.

OBJECTIVE: Joint hypermobility can be associated with benign musculoskeletal pain. The relation between hypermobility and low bone mineral density is still unknown. Osteoporosis can be observed in some genetic syndromes associated with joint hypermobility. The aim of our study was to detect the possible relation between joint hypermobility, benign musculoskeletal pain and bone mineral density in children. PATIENTS AND METHODS: Ninety-three children from 5 to 10 years of age were evaluated concerning the presence of joint hypermobility and the presence of musculoskeletal pain based on a questionnaire directed to parents. We also performed densitometry to measure bone mineral density. All children underwent an L2-L4 lumbar bone densitometry. RESULTS: Children were distributed into four groups according to the presence or not of joint hypermobility associated or not with musculoskeletal pain: 29 (31.2%) with hypermobility and pain, 20 (21.5%) with hypermobility and without pain, 22 (23.6%) without hypermobility and with pain and 22 (23.6%) without hypermobility and without pain (control group). Twenty-four children (25.8%) presented reduction in bone mineral density over 10% related to the adequate bone mineral density for age and gender. Bone mineral density was significantly lower in relation to the controls in the following groups: with hypermobility (independently of the presence of pain), with pain (independently of the presence of hypermobility), with hypermobility and without pain and without hypermobility and with pain. CONCLUSION: Bone mineral density may be lower in children with joint hypermobility (independently of musculoskeletal pain) and in children with pain (independently of hypermobility) when compared to controls.

[Behçet's disease in childhood]. / Doença de Behçet na infância.

OBJECTIVE: To make Pediatricians aware of the fact that they must investigate Behçet's disease while performing differential diagnosis of recurrent aphthous stomatitis, even though it is a vasculitis of rare occurrence in early life. METHODS: Between June 1996 and December 2000, we retrospectively evaluated seven patients of our Pediatric Rheumatology Unit. Demographic, clinical, and laboratory data as well as data regarding treatment and follow-up were presented. RESULTS: Five out of seven patients were female (71.4%), four were non-Caucasian (57.1%), the mean age at onset was 8 years and 11 months (variation of 6 months to 13 years and 8 months), the mean period until diagnosis was 2 years and 3 months (variation of 2 months to 8 years) and the mean follow-up period was 4 years and 2 months (three patients without follow-up). The major criteria of diagnosis were: oral ulcers in seven patients (100%), genital ulcers in three patients (42.8%), ophthalmic alterations in four patients (57.1%) cutaneous vasculitis in one patient (14.2%) and positive pathology test in one patient (14.2%). The minor criteria were: arthralgia/arthritis in five patients (71.4%), family history in two patients (28.5%), and sagittal sinus thrombosis in one patient (14.2%). The initial symptoms included recurrent aphthous stomatitis (more than three painful aphthous ulcers episodes in the period of 1 year), genital ulcers, arthralgia, fever and weight loss. The laboratory findings were: mild anemia in 1/6 patients, ESR>25 in 3/6 patients, increased serum gammaglobulin level in 2/4 patients, B5 histocompatibility antigen in 2/7 patients. The treatment included corticosteroids for 5/7 patients (4 oral, 1 intravenous and one local use), thalidomide for 4/7 patients, colchicine for 2/7 patients and dapsone for 1/7 patient. The outcome was favorable in 4/6, and 3/6 patients presented relapse. CONCLUSION: Our results confirm the importance of considering the diagnosis of Behçet's disease in patients with recurrent oral and genital ulcers.

Prevalence of juvenile idiopathic arthritis in children aged 6 to 12 years in Embu das Artes, state of Sao Paulo, Brazil.

The aim of the study was to study the prevalence of juvenile idiopathic arthritis (JIA) in school children in the city of Embu das Artes in São Paulo State. 2880 school children from seven public schools, aged between 6 and 12 years, were evaluated (clinical findings) by a pediatric rheumatologist. A board certified Pediatric Rheumatologist evaluated the subjects with suspected inflammatory arthropathy. Children with higher suspicion were referred to a specialized service. One hundred and forty-one children have presented abnormalities on examination of musculoskeletal system, with isolated pain on palpation the most common finding in the first evaluation (60.9%), with improvement in almost all cases in the second examination. Most of the abnormalities were related to recent injuries or congenital malformations. Six children have clinical findings suggestive of chronic arthropathy and were referred to a specialized pediatric rheumatology clinic. Of these, a 12 year-old girl fulfilled the criteria for JIA. The other diagnoses were aseptic necrosis of the hip (P = 1) of and post-trauma synovitis (P = 4). The prevalence of JIA in children aged between 6 and 12 years was 1/2.880 (or 0.34/1.000).

Quality of life in patients with sickle cell disease.

OBJECTIVE: To evaluate the quality of life in children and adolescents with sickle cell disease attending a blood reference center, and to assess the quality of life of their relatives. METHODS: Cross-sectional study that included 100 patients with sickle cell disease, which were divided into three subgroups according to age: 5 to 7 (n=18), 8 to 12 (n=32), and 13 to 18 years-old (n=50), and their parents. The Control Group included 50 healthy children and adolescents from a public local school, also divided into the same three age subgroups and their caregivers. The Pediatric Quality of life Inventory (PedsQL), version 4.0, was applied in both groups. The generic questionnaire Medical Outcomes Study 36 - Item Short-Form Health Survey (SF-36) was applied to the relatives. The answers were linearly transformed into a score and compared by non-parametric tests. RESULTS: The PedsQL scores of patients were significantly lower than those obtained in the Control Group (p<0.0001) in all studied areas (physical, emotional, social skills, and school activities). Similarly, SF-36 scores applied to the patients' parents were lower than those obtained in the Control Group in all studied aspects (p<0.0001). CONCLUSIONS: Sickle cell disease affects the quality of life of children, adolescents, and their families. Patients sense restrictions in the emotional, social, family and physical aspects, among others.

Reliability of the Pediatric Quality of Life Inventory - Healthcare Satisfaction Generic Module 3.0 version for the assessment of the quality of care of children with chronic diseases.

OBJECTIVE: To translate to Brazilian Portuguese and to evaluate the reliability of the Healthcare Satisfaction (HS) Generic Module version 3.0 of the PedsQL inventory for the Brazilian culture. METHOD: The methods recommended by the authors of the original version of the questionnaire were used: 1) translation by bilingual experts; 2) back translation into English and evaluation by the authors of the original version; 3) a pilot study including 10 parents (cognitive interview); and 4) evaluation of the measurement properties of the questionnaire. The questionnaire was administered to 60 parents of children and adolescents with chronic diseases in key units of the Department of Pediatrics. RESULTS: Cronbach's alpha ranged from 0.57 to 0.78 for all domains (information, family inclusion, communication, technical skills, emotional needs and overall satisfaction), which confirmed good internal consistency. Test-retest reproducibility was evaluated using 20% of the sample (Spearman correlation coefficient = 0.909). The satisfaction score was good in all areas (> 4.3 points) except in the emotional needs domain. CONCLUSION: The Brazilian version of the HS-PedsQL is a valid and reliable tool to measure the overall satisfaction of parents and caregivers with the treatment of their children.

Sleep, stress, neurocognitive profile and health-related quality of life in adolescents with idiopathic musculoskeletal pain.

OBJECTIVES: The aims of this study were to measure levels of sleep, stress, and depression, as well as health-related quality of life, and to assess the neurocognitive profiles in a sample of adolescents with idiopathic musculoskeletal pain. METHODS: Nineteen adolescents with idiopathic musculoskeletal pain and 20 age-matched healthy control subjects were evaluated regarding their levels of sleep and stress, as well as quality of life, and underwent neurocognitive testing. RESULTS: The sample groups consisted predominantly of females (84%), and the socioeconomic status did not differ between the two groups. In addition, the occurrence of depressive symptoms was similar between the two groups; specifically, 26% of the idiopathic musculoskeletal pain patients and 30% of the control subjects had scores indicative of depression. Teenagers in the group with idiopathic musculoskeletal pain reported poorer quality of life and sleep scores than those in the control group. Regarding stress, patients had worse scores than the control group; whereas 79% of the adolescents with idiopathic musculoskeletal pain met the criteria for a diagnosis of stress, only 35% of the adolescents in the control group met the criteria. In both groups, we observed scores that classified adolescents as being in the resistance phase (intermediate) and exhaustion phase (pathological) of distress. However, the idiopathic musculoskeletal pain group more frequently reported symptomatic complaints of physical and emotional distress. The neurocognitive assessment showed no significant impairments in either group. CONCLUSION: Adolescents with idiopathic musculoskeletal pain did not exhibit cognitive impairments. However, adolescents with idiopathic musculoskeletal pain did experience intermediate to advanced psychological distress and lower health-related quality of life, which may increase their risk of cognitive dysfunction in the future.

Assessment of nutritional status and eating disorders in female adolescents with fibromyalgia.

PURPOSE: To assess eating disorders, nutritional status, body composition, and food intake in adolescents presenting with fibromyalgia. METHODS: In a cross-sectional study, we evaluated the nutritional status (z score of body mass index [ZBMI]), waist circumference, body fat percentage by bioelectrical impedance analysis, symptoms of disordered eating, and possible eating disorders (Kids' Eating Disorders Survey [KEDS]) of 23 female adolescents with fibromyalgia and 23 matched healthy control subjects. RESULTS: Median age for both groups was 15 years. In the fibromyalgia group, the median time for diagnosis was 13.5 months. We did not observe a statistically significant difference between the control and fibromyalgia groups in relation to ZBMI, fat mass percentage, food intake, and symptoms of disordered eating (KEDS). In the fibromyalgia group, there was a significant correlation between fat mass percentage and the total KEDS score (r = .587, p = .003); the same correlation was observed for ZBMI (r = .0778, p < .001). CONCLUSIONS: This study verified an absence of nutritional and eating disorders in adolescents recently diagnosed with fibromyalgia that, in addition to the correlation between adiposity indexes and KEDS total score, emphasizes the importance of nutritional and body composition assessment, allowing an early and adequate nutritional intervention.

Factors associated with adherence to treatment in children and adolescents with chronic rheumatic diseases.

OBJECTIVE: There are several factors that contribute to poor adherence to treatment in children and adolescents with chronic rheumatic diseases, worsening their quality of life and prognosis. Our aim was to assess the rates of adherence to treatment and to identify the socioeconomic and clinical factors associated. METHODS: The sample included 99 patients with juvenile idiopathic arthritis, systemic erythematosus lupus, dermatomyositis or juvenile scleroderma. All patients were followed at the outpatient pediatric rheumatology for a minimum period of 6 months. To assess adherence, a questionnaire was administered to the providers, which included three blocks: 1) demographic, clinical and laboratory data; 2) medication adherence; and 3) attending follow-up appointments, examinations and use of orthoses. A value lower than or equal to 80% of the prescribed was considered poor adherence. RESULTS: A total of 53% of patients showed good overall adherence, observed when the caregiver lived in a stable union marital status (p = 0.006); 20 patients (20.2%) presented poor medication adherence, related to the use of three or more medications daily (p = 0.047). The causes of poor adherence were forgetfulness, refusal, incorrect dose or lack of medication, personal problems, and financial difficulties. CONCLUSIONS: We observed good overall treatment adherence in patients whose providers lived in stable union and poor adherence to medication in patients who used more than three types of medication daily. There was no association between the adherence rates and sex, age, time since diagnosis and disease activity.

Quality of life among children from São Paulo, Brazil: the impact of demographic, family and socioeconomic variables.

The Pediatric Quality of Life Inventory (PedsQL) 4.0 is a questionnaire that evaluates the health related quality of life of children and adolescents, considering different aspects of their development, including the physical, emotional, social and educational. We verified the impact of demographic, social, and economic factors, as well as the family situation, on the health related quality of life of a group of school children of the city of São Paulo, Brazil. The PedsQL 4.0 was applied to 240 children and adolescents aged 2 to 18 and their respective parents. More than two thirds of the families were from lower social strata (C, D, and E). A statistically significant difference was observed in scores when evaluating the health related quality of life across socioeconomic strata and we observed statistically significant differences in the emotional, social, psychosocial and total scores. The PedsQL 4.0 scores obtained through interviews were satisfactory when compared with other urban populations of children and adolescents, probably due to the homogeneity of the population studied.

Subtle cognitive deficits in adults with a previous history of Sydenham's chorea during childhood.

OBJECTIVE: To evaluate the neuropsychological profile and health-related quality of life (HRQOL) of adults who had rheumatic fever (RF) during childhood with and without Sydenham's chorea (SC). METHODS: Three groups of patients were assessed: adults who had RF with SC during childhood (SC group), adults who had RF without SC during childhood (RF group), and controls (CT group). A range of neuropsychological tests looked at several cognitive domains. HRQOL was measured through a Brazilian version of the Short Form 36 (SF-36) health survey. RESULTS: Twenty patients were included in the SC group, 23 patients in the RF group, and 19 patients in the CT group. The 3 groups were homogeneous regarding sex (P = 0.078), age (P = 0.799), schooling (P = 0.600), socioeconomic status (P = 0.138), intelligence quotient (P = 0.329), and scores for anxiety (P = 0.156) and depression (P = 0.076). The SC group demonstrated inferior performance in tests that assessed attention (Digit Span Forward [P = 0.005], Corsi Block Forward [P = 0.014]), speeded information processing (Trail Making A [P = 0.009], Symbol Search [P = 0.042]), and executive functions and working memory (Corsi Block Backward [P = 0.028]), and higher scores for attention deficit scale (P = 0.030) when compared with the RF and CT groups. They also showed a tendency toward lower scores in the physical aspects, vitality, emotional aspects, and mental health domains of the SF-36. The RF group had a lower score for the general health domain than the CT group (P = 0.030). CONCLUSION: Patients who had SC during childhood can exhibit inferior performance in tasks that evaluate attention, speeded information processing, executive functions, and working memory in adult life. Therefore, there is indirect evidence of the persistence of dysfunction in cerebral circuits involved with the basal ganglia. They also presented a worse self-evaluation in HRQOL that was not related to cognitive impairments.

Sclerotic metaphyseal lines in children and adolescents treated with alendronate.

INTRODUCTION: Bisphosphonates inhibit bone resorption by interfering with the action of osteoclasts. Among the adverse effects, sclerotic lines observed in the metaphysis of long bones have been described as the main imaging finding in pediatric patients. OBJECTIVE: To evaluate the frequency of radiographic changes caused by alendronate in children and adolescents with low bone density or calcinosis. PATIENTS AND METHODS: We conducted a cross-sectional study with 21 patients who were treated with once-weekly alendronate for at least 10 months. Patients underwent x-rays of long bones before the start of alendronate and approximately one year after its use. RESULTS: Eleven patients (52.3%) had sclerotic lines in the metaphysis of long bones. The most frequent site was the tibia (8/11 patients), followed by the femur (7/11), humerus (6/11), radius (4/11), ulna (3/11), and fibula (2/11). Regression of radiographic changes during the study period (up to 1.1 years after discontinuation of alendronate) was not observed. CONCLUSION: If used carefully, alendronate is safe and radiographic changes have not been shown to be clinically relevant.