Idiopathic scoliosis: a systematic review and meta-analysis of heritability.
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ABSTRACT: Purpose
Idiopathic scoliosis is the most common spinal deformity and affects 1-3% of children and adolescents. Idiopathic scoliosis may run in families and the purpose of this systematic review was to describe the degree of heritability.Methods
We searched Medline, Web of Science and EMBASE for family and twin studies reporting heritability estimates for idiopathic scoliosis, or studies from which heritability estimates could be calculated. Reference lists were screened for additional papers. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The protocol was registered at PROSPERO (registration number: CRD42022307329).Results
The literature search identified 1134 reports. After full-text screening, nine eligible reports were included for data extraction. Seven were twin studies containing between 5 and 526 pairs, and two were family studies with 1149 and 2732 individuals, respectively. Quality was 'good' in four studies and 'fair' in five studies. In general, studies with radiograph-confirmed diagnosis reported higher heritability estimates than studies with self-reported diagnosis. Population-based twin studies reported lower heritability estimates than clinic-based twin studies. Family-based studies reported higher heritability estimates than twin studies. Pairwise concordance for scoliosis ranged from 0.11 to 1.00 in monozygotic twins and from 0 to 1.0 in dizygotic twins. A meta-analysis of three studies resulted in a narrow sense heritability estimate of 0.57 (95% CI: 0.29-0.86).Conclusion
Twin and family studies indicate a hereditary component in idiopathic scoliosis, but study heterogeneity is large, and the degree of the heritability is uncertain. Nevertheless, known genetic variants associated with idiopathic scoliosis can still only explain a minor part of heritability.
SUBMITTER: Cheng T
PROVIDER: S-EPMC9257730 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:PurposeVertebral body tethering (VBT) is a recent procedure to correct and reduce spinal curves in skeletally immature patients with adolescent idiopathic scoliosis (AIS). The purpose of this systematic review and meta-analysis is to determine the expected curve reduction and potential complications for adolescent patients after VBT.MethodsPubMed, Embase, Google Scholar and Cochrane databases were searched until February 2022. Records were screened against pre-defined inclusion and exclusion criteria. Data sources were prospective and retrospective studies. Demographics, mean differences in Cobb angle, surgical details and complication rates were recorded. Meta-analysis was conducted using a random-effects model.ResultsThis systematic review includes 19 studies, and the meta-analysis includes 16 of these. VBT displayed a statistically significant reduction in Cobb angle from pre-operative to final (minimum 2 years) measurements. The initial mean Cobb angle was 47.8° (CI 95% 42.9-52.7°) and decreased to 22.2° (CI 95% 19.9-24.5°). The mean difference is - 25.8° (CI 95% - 28.9-22.7) (p < 0.01). The overall complication rate was 23% (CI 95% 14.4-31.6%), the most common complication was tether breakage 21.9% (CI 95% 10.6-33.1%). The spinal fusion rate was 7.2% (CI 95% 2.3-12.1%).ConclusionVBT results in a significant reduction of AIS at 2 years of follow-up. Overall complication rate was relatively high although the consequences of the complications are unknown. Further research is required to explore the reasons behind the complication rate and determine the optimal timing for the procedure. VBT remains a promising new procedure that is effective at reducing scoliotic curves and preventing spinal fusion in the majority of patients.Level of evidenceSystematic review of Therapeutic Studies with evidence level II-IV.
| S-EPMC10587225 | biostudies-literature
Project description:AimTo evaluate published data on the predictors of progressive adolescent idiopathic scoliosis (AIS) in order to evaluate their efficacy and level of evidence.MethodsSelection criteria(1) study design: randomized controlled clinical trials, prospective cohort studies and case series, retrospective comparative and none comparative studies; (2) participants: adolescents with AIS aged from 10 to 20 years; and (3) treatment: observation, bracing, and other.Search methodOvid MEDLINE, Embase, the Cochrane Library, PubMed and patent data bases. All years through August 2014 were included. Data were collected that showed an association between the studied characteristics and the progression of AIS or the severity of the spine deformity. Odds ratio (OR), sensitivity, specificity, positive and negative predictive values were also collected. A meta-analysis was performed to evaluate the pooled OR and predictive values, if more than 1 study presented a result. The GRADE approach was applied to evaluate the level of evidence.ResultsThe review included 25 studies. All studies showed statistically significant or borderline association between severity or progression of AIS with the following characteristics: (1) An increase of the Cobb angle or axial rotation during brace treatment; (2) decrease of the rib-vertebral angle at the apical level of the convex side during brace treatment; (3) initial Cobb angle severity (> 25(o)); (4) osteopenia; (5) patient age < 13 years at diagnosis; (6) premenarche status; (7) skeletal immaturity; (8) thoracic deformity; (9) brain stem vestibular dysfunction; and (10) multiple indices combining radiographic, demographic, and physiologic characteristics. Single nucleotide polymorphisms of the following genes: (1) calmodulin 1; (2) estrogen receptor 1; (3) tryptophan hydroxylase 1; (3) insulin-like growth factor 1; (5) neurotrophin 3; (6) interleukin-17 receptor C; (7) melatonin receptor 1B, and (8) ScoliScore test. Other predictors included: (1) impairment of melatonin signaling in osteoblasts and peripheral blood mononuclear cells (PBMC); (2) G-protein signaling dysfunction in PBMC; and (3) the level of platelet calmodulin. However, predictive values of all these findings were limited, and the levels of evidence were low. The pooled result of brace treatment outcomes demonstrated that around 27% of patents with AIS experienced exacerbation of the spine deformity during or after brace treatment, and 15% required surgical correction. However, the level of evidence is also low due to the limitations of the included studies.ConclusionThis review did not reveal any methods for the prediction of progression in AIS that could be recommended for clinical use as diagnostic criteria.
| S-EPMC4539477 | biostudies-literature
Project description:BackgroundAdolescents with scoliosis consistently demonstrate lower body weight, lean muscle mass, and bone mineral density than healthy adolescent counterparts. Recent studies have focused on understanding how leptin and ghrelin signaling may play a role in adolescent idiopathic scoliosis (AIS). In our current study, we aim to evaluate the serum levels of leptin, soluble leptin receptor (sOB-R), and ghrelin in AIS patients through systematic review and meta-analysis.MethodsWe conducted our systematic review by searching the keywords in online databases including PubMed, Embase, Cochrane, Elsevier, Springer, and Web of Science from the time of database inception to January 2020. Inclusion criteria were studies that measure leptin, soluble leptin receptor (sOB-R), and ghrelin levels in AIS patients. Selection of studies, assessment of study quality, and data extraction were performed by two reviewers independently. Then, data was analyzed to calculate the mean difference and 95% confidence interval (CI).ResultsSeven studies concerning leptin/sOB-R and three studies concerning ghrelin were qualified for meta-analysis (one study concerning both leptin and ghrelin). Serum leptin of patients with AIS were significantly lower when compared with healthy controls, with the weighted mean difference (WMD) of - 0.95 (95% CI - 1.43 to - 0.48, p < 0.0001) after reducing the heterogeneity using six studies for meta-analysis, while sOB-R and ghrelin level was significantly higher in AIS group when compared with control group, with the WMD of 2.64 (95% CI 1.60 to 3.67, p < 0.001) and 1.42 (95% CI 0.48 to 2.35, p = 0.003), respectively.ConclusionOur current meta-analysis showed that serum level of leptin in AIS patients was significantly lower when compared with control subjects, while serum sOB-R and ghrelin levels were significantly higher in AIS patients. More clinical studies are still required to further validate the predictive value of leptin or ghrelin for the curve progression for AIS patients.
| S-EPMC7596938 | biostudies-literature
Project description:To clarify the differences in biomechanical characteristics present in adolescent idiopathic scoliosis (AIS) patients during walking. Cross-sectional studies related to the biomechanical characteristics of AIS were included by searching 7 major databases and analyzed using RevMan 5.4 software. There were a total of 15 trials involving 377 AIS patients. The results showed that during walking, AIS had increased pelvic coronal tilt (effect size [ES] = -1.34, 95% confidence intervals [CI] = -2.41 to -0.27, P = .01), knee and ankle sagittal mobility were reduced (ES = -5.22, 95% CI = -7.51 to -2.94, P < .001; ES = -3.58, 95% CI = -5.93 to -1.22, P = .003). The duration of electromyogram activity was prolonged in the gluteus medius (ES = 7.65, 95% CI = 5.33-9.96, P < .001), lumbar square (ES = 10.73, 95% CI = 6.97-14.49, P < .001), and erector spinae (ES = 14.35, 95% CI = 6.94-21.76, P < .001) muscles. The results of subgroup analysis showed that the step length of the concave side of the spine was reduced (ES = -0.36, 95% CI = -0.71 to -0.01, P = .04). AIS has characteristic biomechanical changes in spatiotemporal, phase kinematics, motor mechanics, and electromyographic signatures. Further comprehensive studies are required in the future to analyze the biomechanical and electromyographic differences among different degrees and types of scoliosis, as well as the differences between the concave and convex sides of scoliosis during walking.
| S-EPMC10713143 | biostudies-literature
Project description:Brace treatment is the most common noninvasive treatment in adolescent idiopathic scoliosis (AIS); however it is currently not fully known whether there is a difference in effectiveness between brace types/concepts. All studies on brace treatment for AIS were searched for in PubMed and EMBASE up to January 2021. Articles that did not report on maturity of the study population were excluded. Critical appraisal was performed using the Methodological Index for Non-Randomized Studies tool (MINORS). Brace concepts were distinguished in prescribed wearing time and rigidity of the brace: full-time, part-time, and night-time, rigid braces and soft braces. In the meta-analysis, success was defined as ≤5° curve progression during follow-up. Of the 33 selected studies, 11 papers showed high risk of bias. The rigid full-time brace had on average a success rate of 73.2% (95% CI 61-86%), night-time of 78.7% (72-85%), soft braces of 62.4% (55-70%), observation only of 50% (44-56%). There was insufficient evidence on part-time wear for the meta-analysis. The majority of brace studies have significant risk of bias. No significant difference in outcome between the night-time or full-time concepts could be identified. Soft braces have a lower success rate compared to rigid braces. Bracing for scoliosis in Risser 0-2 and 0-3 stage of maturation appeared most effective.
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Project description:BackgroundAdolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity with reported complications including pain, mental health concern and respiratory dysfunction. The scoliosis-specific exercise (SSE) is prescribed throughout pubertal growth to slow progression although effects are unclear. This review aims to establish the effectiveness of SSE for alleviating AIS in terms of reducing Cobb angle, improving trunk asymmetry and quality of life (QoL). Additionally, it aims to define the effects of age, skeletal maturity, curve magnitude and exercise compliance on the outcomes of SSE.MethodsA systematic reviewed was conducted to net SSE articles. Searched databases included PubMed, MEDLINE, Cochrane Library, Scopus, CINAHL and Google scholar. The quality of study was critically appraised according to the PEDro scale.ResultsA total of ten trials with an average PEDro score of 6.9/10 were examined in this study. Two randomized controlled trials (RCTs) and two clinical controlled trials suggested that SSE alone and with bracing or traditional exercise had clinical significance in reducing Cobb angle more than 5°. One RCT specifically implicated no comparable effects between bracing and SSE in prevention of curve progression for moderate scoliosis. There was insufficient evidence to support the positive effects of SSE on improving truck asymmetry (n?=?4) and QoL (n?=?3). Five studies evaluated the interaction effects of age (n?=?2), skeletal maturity (n?=?1) and curve magnitude (n?=?2) with SSE in reducing Cobb angle yet without drawing any firm conclusions.ConclusionsInsufficient evidence is available to prove that SSE with or without other conservative treatments can reduce Cobb angle, improve trunk balance and QoL. The interaction effects of age, skeletal maturity, curve magnitude, and exercise compliance with SSE in reducing Cobb angle are not proven. Future studies should investigate the relationship of influencing factors and SSE in treating AIS but not only testing its effectiveness.Trial registrationINPLASY202050100 .
| S-EPMC7385878 | biostudies-literature
Project description:BackgroundDespite more than a century of dedicated research, the etiology and pathogenesis of adolescent idiopathic scoliosis (AIS) remain unclear. By definition, 'idiopathic' implies an unknown cause. Nevertheless, many abnormalities concomitant to AIS have been described, often with the suggestion that these abnormalities are related to etio-pathogenesis. Insight in the concomitant abnormalities may assist in improving the understanding of the etiological pathways of AIS. We aimed to systematically review and synthesize available studies on abnormalities concomitant to AIS.MethodsOriginal studies comparing untreated AIS patients with healthy adolescents on abnormalities other than the deformity of the spine were retrieved from PubMed and Embase. We followed PRISMA guidelines and to quantify the relationship between each abnormality and AIS we used a best-evidence-syntheses for relating risk-of-bias to consistency of effect sizes.ResultsWe identified 88 relevant citations, forty-seven carried high risk-of-bias and twenty studies did not report quantitative data in a sufficient manner. The remaining twenty-one publications failed to report data from before initiation of the deformity and blind assessments. These cross-sectional studies provided data on fourteen abnormalities concomitant to AIS. With our best-evidence-syntheses we were unable to find both strong evidence and a consistent pattern of occurrence for AIS and any of these abnormalities. From moderate risk-of-bias studies a relatively consistent pattern of occurrence for AIS and impaired gait control (4 studies; 155 subjects; Cohen's d = 1.00) and decreased bone mineral density (2 studies; 954 subjects; Cohen's d =?-0.83) was found. For nine abnormalities a consistent pattern of occurrence with AIS was found, but the evidence for these was weak.ConclusionsBased on the available literature, strong evidence is lacking for a consistent pattern of occurrence of AIS and any abnormality. The relevance for understanding the multifactorial etiology of AIS is very limited.
| S-EPMC4018432 | biostudies-literature
Project description:ObjectiveThe aim of this study was to compare serum vitamin D levels in girls with adolescent idiopathic scoliosis (AIS) and controls using meta-analysis methods. We searched Medline (via PubMed), Cochrane, Scopus, and Embase databases for studies evaluating outcomes in AIS, including patient age, body mass index, bone mineral density (BMD), and serum levels of parathyroid hormone (PTH), calcium, and phosphate, published between January 2000 and June 2020. We searched for studies that were limited to humans only. The inclusion criteria were a scoliosis study that measured vitamin D levels. We excluded duplicate publications such as review articles, case reports, and letters without original data. Two authors extracted data independently and resolved any discrepancies by consensus.ResultsEight comparative studies were identified. Demographic characteristics, bone density, serum levels of vitamin D, parathyroid hormone, and phosphate levels were not significantly different between AIS group and controls, except for serum calcium levels. The serum calcium levels were lower in AIS group than in the controls.ConclusionsThis review includes eight comparative studies reporting serum vitamin D and/or parathyroid hormone levels in AIS. Due to heterogeneity, a limited number of meta-analyses have shown a weak correlation between serum vitamin D levels and the incidence of AIS. Larger, multicenter studies are therefore needed to validate the results.
| S-EPMC10463820 | biostudies-literature
Project description:PurposeTo assess surgical and safety outcomes associated with different rod materials and diameters in adolescent idiopathic scoliosis (AIS) surgery.MethodsA systematic literature review and meta-analysis evaluated the surgical management of AIS patients using pedicle screw fixation systems (i.e., posterior rods and pedicle screws) with rods of different materials and sizes. Postoperative surgical outcomes (e.g., kyphosis and coronal correction) and complications (i.e., hyper/hypo-lumbar lordosis, proximal junctional kyphosis, revisions, reoperations, and infections) were assessed. Random-effects models (REMs) pooled data for outcomes reported in ≥ 2 studies.ResultsAmong 75 studies evaluating AIS surgery using pedicle screw fixation systems, 46 described rod materials and/or diameters. Two studies directly comparing titanium (Ti) and cobalt-chromium (CoCr) rods found that CoCr rods provided significantly better postoperative kyphosis angle correction vs. Ti rods during a shorter follow-up (0-3 months, MD = - 2.98°, 95% CI - 5.79 to - 0.17°, p = 0.04), and longer follow-up (≥ 24 months, MD = - 3.99°, 95% CI - 6.98 to - 1.00, p = 0.009). Surgical infection varied from 2% (95% CI 1.0-3.0%) for 5.5 mm rods to 4% (95% CI 2.0-7.0%) for 6 mm rods. Reoperation rates were lower with 5.5 mm rods 1% (95% CI 0.0-3.0%) vs. 6 mm rods [6% (95% CI 2.0-9.0%); p = 0.04]. Differences in coronal angle, lumbar lordosis, proximal junctional kyphosis, revisions, and infections did not differ significantly (p > 0.05) among rods of different materials or diameters.ConclusionFor AIS, CoCr rods provided better correction of thoracic kyphosis compared to Ti rods. Patients with 5.5 mm rods had fewer reoperations vs. 6.0 and 6.35 mm diameter rods.Level of evidenceIII.
| S-EPMC9579082 | biostudies-literature
Project description:BackgroundThe multifactorial aetiology of scoliosis is well known. Physical activity is considered both a treatment and causative factor for idiopathic scoliosis; however, evidence for a causal relationship between physical activity levels and idiopathic scoliosis in adolescents is conflicting. Therefore, we aimed to summarise the current evidence regarding the association between adolescent idiopathic scoliosis and physical activity and further to assess whether the relationship is dose dependent.MethodsPubMed, Cochrane, Scopus, and Web of Science databases were searched from 1991 to July 2022 using the following main keywords: adolescent idiopathic scoliosis, physical activity, and risk factors, supplemented with manual searches, secondary citations, and reference searches. The quality of the included literature was evaluated using the Scale for Reporting Observational Studies in Enhanced Epidemiology guidelines.ResultsEight studies were included in this review, of which six reported an association between adolescent idiopathic scoliosis and physical activity levels and two reported no association. One British study reported reduced physical function early in life as a new risk factor for scoliosis onset.ConclusionsPhysical activity is strongly associated with adolescent idiopathic scoliosis. Physical activity should be encouraged as it plays an important role in the prevention of adolescent idiopathic scoliosis. Further research is needed to determine the dose-dependent relationship between physical activity and prevention of adolescent idiopathic scoliosis.
| S-EPMC10729348 | biostudies-literature