11 research outputs found
Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial
2011 SOSORT guidelines: Orthopaedic and Rehabilitation treatment of idiopathic scoliosis during growth
<p>Abstract</p> <p>Background</p> <p>The International Scientific Society on Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT), that produced its first Guidelines in 2005, felt the need to revise them and increase their scientific quality. The aim is to offer to all professionals and their patients an evidence-based updated review of the actual evidence on conservative treatment of idiopathic scoliosis (CTIS).</p> <p>Methods</p> <p>All types of professionals (specialty physicians, and allied health professionals) engaged in CTIS have been involved together with a methodologist and a patient representative. A review of all the relevant literature and of the existing Guidelines have been performed. Documents, recommendations, and practical approach flow charts have been developed according to a Delphi procedure. A methodological and practical review has been made, and a final Consensus Session was held during the 2011 Barcelona SOSORT Meeting.</p> <p>Results</p> <p>The contents of the document are: methodology; generalities on idiopathic scoliosis; approach to CTIS in different patients, with practical flow-charts; literature review and recommendations on assessment, bracing, physiotherapy, Physiotherapeutic Specific Exercises (PSE) and other CTIS. Sixty-five recommendations have been given, divided in the following topics: Bracing (20 recommendations), PSE to prevent scoliosis progression during growth (8), PSE during brace treatment and surgical therapy (5), Other conservative treatments (3), Respiratory function and exercises (3), Sports activities (6), Assessment (20). No recommendations reached a Strength of Evidence level I; 2 were level II; 7 level III; and 20 level IV; through the Consensus procedure 26 reached level V and 10 level VI. The Strength of Recommendations was Grade A for 13, B for 49 and C for 3; none had grade D.</p> <p>Conclusion</p> <p>These Guidelines have been a big effort of SOSORT to paint the actual situation of CTIS, starting from the evidence, and filling all the gray areas using a scientific method. According to results, it is possible to understand the lack of research in general on CTIS. SOSORT invites researchers to join, and clinicians to develop good research strategies to allow in the future to support or refute these recommendations according to new and stronger evidence.</p
Bone mineral density in developing children with osteogenesis imperfecta
Background and purpose - Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue caused by a defect in collagen type I synthesis. For bone, this includes fragility, low bone mass, and progressive skeletal deformities, which can result in various degrees of short stature. The purpose of this study was to investigate development of bone mineral density in children with OI. Patients and methods - Development of lumbar bone mineral density was studied retrospectively in a cohort of 74 children with OI. Mean age was 16.3 years (SD 4.3). In 52 children, repeated measurements were available. Mean age at the start of measurement was 8.8 years (SD 4.1), and mean follow-up was 9 years (SD 2.7). A longitudinal data analysis was performed. In the total cohort (74 children), a cross-sectional analysis was performed with the latest-measured BMD. Age at the latest BMD measurement was almost equal for girls and boys: 17.4 and 17.7 years respectively. Result - Mean annual increase in BMD in the 52 children was 0.038 g/cm(2)/year (SD 0.024). Annual increase in BMD was statistically significantly higher in girls, in both the unadjusted and adjusted analysis. In cross-sectional analysis, in the whole cohort the latest-measured lumbar BMD was significantly higher in girls, in the children with OI of type I, in walkers, and in those who were older, in both unadjusted and adjusted analysis. Interpretation - During 9 years of follow-up, there appeared to be an increase in bone mineral density, which was most pronounced in girls. One possible explanation might be a later growth spurt and older age at peak bone mass in boy
Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones
Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones
We studied the relationship between the age of reaching motor milestones, especially anti-gravity activities, and the age of development of pathological spinal curvatures in children with osteogenesis imperfecta (OI). We hypothesized that earlier achievement of anti-gravity motor milestones predicts a later development of pathological spinal curvatures. Ninety-six children participated in this retrospective study. The severity of the disease was classified according to Sillence into types I-IV. Spinal radiography was performed annually and spinal deformities were measured according to the Cobb angle. Scoliosis was defined as a Cobb angle exceeding 9 degrees. Pathological thoracic kyphosis was defined as a Cobb angle exceeding 40 degrees. The parents were asked to report the age at which the child achieved motor milestones, and data were checked against health care records. Thirty-seven of 96 children (39%) developed a scoliosis of more than 9 degrees. Nine of 96 children (9%) developed a pathological kyphosis. The age of developing scoliosis was significantly lower than the age of development of the pathological kyphosis (P=0.01). Bone mineral density was measured by dual energy X-ray absorptiometry (DEXA) in 53 children, 28 of whom developed scoliosis, and 25 of whom did not. The mean DEXA Z-score of the 28 children with scoliosis was significantly lower than that of the 25 children without (-5.2, SD 1.3 vs -3.2, SD 1.9; P-value <0.001). Children with OI type IV, but particularly OI type III, reached motor milestones much later than children with OI type I. The motor milestone "supported sitting" showed a significant inverse association with time of the first presence of scoliosis with a Cobb angle greater than 9 degrees (linear regression coefficient: -1.3, 95% confidence interval: -2.6 to -0.03). The age of achieving the motor milestones "lifting the head to 45 degrees in prone position", "rolling", and "supported-" and "unsupported standing" were not significantly associated with age of the first presence of scoliosis with a Cobb angle greater than 9 degrees. However, the directions of associations suggest that here, too, there is a tendency for later development of scoliosis in those who reach milestones at earlier ages. Multivariable analyses showed that the motor milestone "sitting with support" was significantly associated with age of first achieving scoliosis, independent of gender and type of OI (linear regression coefficient: -0.9, 95% confidence interval: -1.3 to -0.5). We conclude that in children with OI, the age of anti-gravity motor milestones was associated with the age of development of pathological spinal curvatures. Earlier achievement of the motor milestone "supported sitting" predicted significantly a later development of pathological spinal curvatures, independent of gender and type of O
Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial
In this double-blind randomised placebo-controlled trial it was investigated during a two-year follow-up whether oral bisphosphonates (Olpadronate 10 mg/m2/day) influence quality of life in children with osteogenesis imperfecta (OI). Thirty-four children with OI (classified according to Sillence criteria), aged 3 to 18 years of age, with a restricted level of ambulation were included. Randomisation was performed using a list of computer generated random numbers to allocate patients to receive Olpadronate or placebo. Quality of life was measured using self-perception profile for children (SPPC) and health-utility index (HUI). Differences between baseline measurements and measurements at two years follow-up were analysed within the Olpadronate and placebo group using a student's t-test. Differences in HUI and SPPC regression coefficients were analysed by random-effects repeated measures analysis (SAS, Proc Mixed, version 8.2), adjusted for age, gender and type of OI. Within the Olpadronate group there was a significant decrease in pain utility; however, difference in six months' regression coefficients between the placebo and Olpadronate group were not significant. Within the placebo group there was a significant increase in scholastic competence and behavioural conduct. The item behavioural conduct showed a steeper annual regression coefficient favourable for the placebo group. In the other SPPC items none of the annual regression coefficients showed a significant difference between the Olpadronate and the placebo group. Conclusion: We found only slight differences in quality of life in favour of the bisphosphonate group. A small but not significant decrease in pain was detected in the bisphosphonate grou
Spinal cord transection before scoliosis correction in myelomeningocele may improve bladder function
In patients with myelomeningocele (MMC) and coexistent scoliosis, a spinal cord transection (SC-transection) is sometimes performed before scoliosis correction to prevent traction on the myelum after stretching the spinal column. Performing a SC-transection may have positive effects on bladder function, especially in case of refractory detrusor-sphincter dyssynergia. This study investigates the effects of SC-transection on lower and upper urinary tract outcomes. All children with MMC who underwent scoliosis correction (1989-2009) were retrospectively reviewed. Cases were defined as those who underwent a SC-transection before scoliosis correction, whereas the control group comprised children who had a scoliosis correction alone. Urodynamic and clinical outcomes were examined. A total of 7 cases and 13 controls were identified. Postoperatively, compared to the control group, cases had relatively more often improvement of compliance (improvement in 6/7 vs. 9/13) and bladder capacity (improvement in 6/7 vs. 8/13). No effect of SC-transection was found on incontinence severity, clean intermittent catheterization frequency, use of antimuscarinic drugs, or signs of renal damage on ultrasound. SC-transection before scoliosis correction in children with MMC without lower extremity function, may improve bladder function with respect to bladder compliance and bladder capacity. Changes in symptoms or renal ultrasound were not found. No harmful effects of SC-transection were found, indicating that this procedure can be performed safely with respect to bladder function in these patients. Whether or not SC-transection should be recommended during scoliosis correction in patients with MMC to improve bladder function requires further stud
PLS3 Mutations in X-Linked Osteoporosis with Fractures
<p>Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk of fracture among elderly heterozygous women that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multi-factorial osteoporosis.</p>