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Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors.

ABSTRACT: Adolescent idiopathic scoliosis (AIS) has been known to be related closely to genetic factors. Higher prevalence of AIS among individuals with family history of scoliosis suggesting critical roles of genetic in the pathogenesis of AIS. However, evidence also suggested that environmental factors such as latitude and sun exposure also play a critical role in the pathogenesis of the disease. While genetic factors played an important role in the occurrence of AIS, environmental factors are more likely to affect the progression of the disease. Although the pathogenesis of AIS remains elusive, current knowledge suggests that genetic factors and its interaction with environmental factors are crucial in the development of the disease, explaining differences in clinical characteristics of AIS across the globe. The aim of this review is to summarize the current knowledge of genetic and environmental factors contributing to AIS and their interactions.

SUBMITTER: Aulia TN

PROVIDER: S-EPMC10919743 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors.

Aulia Teuku N TN Djufri Djufri D Gatam Luthfi L Yaman Aman A

Narra J 20231106 3

Adolescent idiopathic scoliosis (AIS) has been known to be related closely to genetic factors. Higher prevalence of AIS among individuals with family history of scoliosis suggesting critical roles of genetic in the pathogenesis of AIS. However, evidence also suggested that environmental factors such as latitude and sun exposure also play a critical role in the pathogenesis of the disease. While genetic factors played an important role in the occurrence of AIS, environmental factors are more like ...[more]

PMID: 38455619

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Project description:The measurements of spinal curvatures using the ultrasound (US) imaging method on children with scoliosis have been comparable with radiography. However, factors influencing the reliability and accuracy of US measurement have not been studied. The purpose of this study is to investigate the effects of curve features and patients' demographics on US measurements and to determine which factors influence the reliability and accuracy. Two hundred children with scoliosis were recruited and scanned with US by one experienced operator and three trainees. One experienced rater measured the proxy Cobb angles from US images twice one week apart and compared the results with clinical radiographic records. The correlation and accuracy between the US and radiographic measurements were subdivided by different curve severities, curve types, subjects' weight status and US acquisition experiences. A total of 326 and 313 curves were recognized from radiographs and US images, respectively. The mean Cobb angles of the 13 missing curves were 17.4±7.4° and 11 at the thoracic region. Among the 16 curves showing large discrepancy (≥6°) between US and radiographic measurements, 7 were main thoracic and 6 were lumbar curves. Twelve had axial vertebral rotation (AVR) greater than 8°. The US scans performed by the experienced operator showed fewer large discrepancy curves, smaller difference and higher correlation than the scans from the trainees (3%, 1.7±1.5°, 0.95 vs 6%, 2.4±1.8°, 0.90). Only 4% missing and 5% large discrepancy curves were demonstrated for US measurements in comparison to radiography. The missing curves were mainly caused by small severity and in the upper spinal region. There was a higher chance of the large discrepancy curves in the main thoracic and lumbar regions with AVR>8°. A skilled operator acquired better US images and led to more accurate measurements especially for those subjects with larger curvatures, AVR and body mass index (BMI).

Project description:PurposeBrace treatment for adolescent idiopathic scoliosis (AIS) is usually prescribed for 20-40° curves in patients with growth potential. The aim is to reduce the risk of curve progression during growth and to avoid the curve reaching a surgical threshold. Having as small a curve as possible at skeletal maturity will reduce the risk of curve progression during adult life. While evidence exists for brace treatment in AIS, there is disagreement on how and when to discontinue bracing. The purpose of this review was to investigate what criteria have been reported for initiating brace cessation and published weaning protocols and to look at estimates of the number of patients that may progress > 5 degrees after the end of growth.MethodsThis scoping review summarizes existing knowledge on the best time to stop bracing in AIS patients, how to "wean," and what happens to spinal curves after bracing. Searches were carried out through MEDLINE, EMBASE, and PsycINFO in April 2022. A total of 1936 articles were reduced to 43 by 3 reviewers. Full papers were obtained, and data were extracted.ResultsWeaning was most commonly determined by Risser 4 (girls) and 5 (boys). Other requirements included 2 years post-menarche and no growth in standing/sitting height for 6 months. Skeletal maturity assessed from hand and wrist radiographs, e.g., Sanders' stage; distal radius and ulnar physes, could determine the optimal weaning time to minimize curve progression. Complete discontinuation was the most common option at skeletal maturity; variations on weaning protocols involved gradual reduction of bracing over 6-12 months. Curve progression after weaning is common. The 12 studies reporting early curve progression after brace weaning found a mean Cobb angle progression of 3.8° (n = 1655). From the seven studies reporting early curve progression by > 5 degrees, there were 236/700 (34%) patients. There is limited information on risk factors to predict early curve progression after finishing brace treatment with larger curves, especially those over 40 degrees possibly having more chance of progression.ConclusionCurve progression after bracing cessation is a negative outcome for patients who have tolerated bracing for several years, especially if surgery is required. The literature shows that when to start brace cessation and weaning protocols vary. Approximately 34% of patients progressed by more than 5 degrees at 2-4 years after brace cessation or weaning. Larger curves seem more likely to progress. More research is needed to evaluate the risk factors for curve progression after brace treatment, defining the best time to stop bracing based on the lowest risk of curve progression and whether there is any benefit to weaning.

Project description:IntroductionHealth-related quality of life (HRQoL) outcome questionnaire, Scoliosis Research Society (SRS)-30, had been well received since its establishment in 2003. Literatures from Asia on the use of SRS-30 mainly focused on the translation process and validation process, but not on measuring outcomes, particularly in the Chinese community. We carried out a prospective cohort study to evaluate the HRQoL of Chinese AIS adolescents with severe scoliosis after surgery.MethodsOne hundred and four Chinese AIS patients with severe scoliosis undergoing posterior spinal fusion between 2009 and 2013 were recruited in this study. They completed SRS-30 questions before surgery, before hospital discharge, and at follow-up. Mean scores and percentages of individual scores in different domains, and composite scores in terms of subtotal and total scores were calculated referring to the scoring system. Gender-specific and period-specific descriptive analyses were described. Correlation of mean domain scores at the three time points were explored to look for any time-specific relationship. Linear regression analysis looking for potential risk factors on domain scores at different time points by gender were also carried out.ResultsMean age was 16.28 at surgery, and 83.6% were female. Significant correlations between pre-op scores and scores after surgery were observed in function/activity domain (p=0.05) in males, and pain (p=0.04) and satisfaction with management (p=0.04) domains in females. No gender difference in all 5 domain scores at the 3 time points was found. Pre-op maximum Cobb angle and corrected angle were found to be risk factors on self-image, as well as satisfaction with management, in male and female patients.ConclusionsThis is the first report on the evaluation of the clinical HRQoL outcomes of Chinese AIS patients with severe scoliosis after surgery. Medical professionals should pay attention to take care of the difference in personal perceptions of feelings between boys and girls. Special care should also be allocated to AIS patients, and try to arrange earlier surgical intervention.

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.

Dataset Information

Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors.

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Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors.

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