Cause Of Adolescent Idiopathic Scoliosis Research Articles

Computer Modeling of the Thoracic Spine in Children: Assessment of the Contribution of Rectified Kyphosis in the Possible Development of Adolescent Idiopathic Scoliosis

Introduction:: Adolescent Idiopathic Scoliosis is a spinal deformity. Its development can be linked to hypokyphosis in the thoracic region. Objective:: The present study proposed to investigate, through the finite element method, the biomechanics of the immature thoracic spine segment T5-T10 in normal and rectified kyphosis under axial load, flexion and extension. Materials and Methods: Intervertebral discs were modeled as hyperelastic material and vertebral bone as elastic linear material. The bone was divided into trabecular and cortical regions. Furthermore, discs were divided into nucleus pulposus and annulus fibrous. Results:: Results indicate greater instability of rectified segments with larger strain and displacements, mainly under extension. Conclusion:: It was concluded that the rectified model is predisposed to the development of scoliosis since higher deformations and displacements in this condition were observed, going in favor of the assumption that this factor would be one of the causes of Adolescent Idiopathic Scoliosis.

The Role of Muscle Biomarkers in Adolescent Idiopathic Scoliosis.

Adolescent idiopathic scoliosis (AIS) is the predominant orthopedic disorder in children, affecting 1-3% of the global population. Research in this field has tried to delineate the genetic factors behind scoliosis and its association with heredity since AIS is considered a polygenic disease and has different genetic and epigenetic factors. The current study conducted a narrative review of the literature, focusing on biomarkers in the pathophysiology of muscle in AIS patients. Articles were collected from Scopus, Pubmed, and Web of Science. The key screening parameters were scoliosis classification, sampling, and the biomarkers evaluated. This review emphasizes potential key mechanisms and molecular regulators in muscle tissue. While there has been limited focus on the proteins contributing to muscle changes in AIS, significant attention has been given to genomic studies of single-nucleotide polymorphisms, particularly in LBX1. Despite these efforts, the exact causes of AIS remain elusive, with several theories suggesting genetic and hormonal factors. This review identified critical protein biomarkers such as Gi-protein alpha subunits, fibrillin-1 and -2, and various differentially expressed proteins, which may be linked to muscle alterations in AIS. This field of research is still limited due to a lack of homogeneity in the distinction of patients by groups and curve severity. Although the pathophysiology of AIS is still unclear, molecular research is important to guide the treatment of AIS before achieving skeletal maturity, thus avoiding serious problems associated with posture changes and low quality of life. In the future, a more comprehensive synergy between orthopedic and molecular research might ameliorate the diagnosis and treatment of AIS patients.

The asymmetrical ESR1 signaling in muscle progenitor cells determines the progression of adolescent idiopathic scoliosis

Adolescent Idiopathic Scoliosis (AIS) is a common pediatric skeletal disease highly occurred in females. The pathogenesis of AIS has not been fully elucidated. Here, we reveal that ESR1 (Estrogen Receptor 1) expression declines in muscle stem/progenitor cells at the concave side of AIS patients. Furthermore, ESR1 is required for muscle stem/progenitor cell differentiation and disrupted ESR1 signaling leads to differentiation defects. The imbalance of ESR1 signaling in the para-spinal muscles induces scoliosis in mice, while reactivation of ESR1 signaling at the concave side by an FDA approved drug Raloxifene alleviates the curve progression. This work reveals that the asymmetric inactivation of ESR1 signaling is one of the causes of AIS. Reactivation of ESR1 signaling in para-spinal muscle by Raloxifene at the concave side could be a new strategy to treat AIS.

Single Nucleotide Polymorphisms and Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-Analysis of the Literature.

Meta-analysis. To determine the single nucleotide polymorphisms (SNPs) that are related to adult idiopathic scoliosis. Adolescent idiopathic scoliosis (AIS) is considered one of the most prevalent spinal diseases. Even though the cause of AIS is yet to be determined, family history and sex have shown conclusive associations. Multiple studies have indicated that AIS is more prevalent in families where at least one other first-degree relative is similarly affected, indicating a possible genetic etiology to AIS. Articles were collected from 3 different search engines and then processed in 2 stages for final article selection for quantitative analysis. Five different genetic models were represented to show the association between the different SNPs and AIS. The Hardy-Weinberg equilibrium was examined using Fisher exact test, with significance set at P <0.05. The final analysis paper's quality was evaluated using the Newcastle Ottawa Scale. Kappa interrater agreement was calculated to evaluate the agreement between authors. The final analysis comprised 43 publications, 19412 cases, 22005 controls, and 25 distinct genes. LBX1 rs11190870 T>C and MATN-1 SNPs were associated with an increased risk of AIS in one or all of the 5 genetic models. IGF-1 , estrogen receptor alfa, and MTNR1B , SNPs were not associated with AIS in all 5 genetic models. Newcastle Ottawa Scale showed good quality for the selected articles. Cohen k = 0.741 and Kappa interrater agreement of 84% showed that the writers were in strong agreement. There seem to be associations between AIS and genetic SNP. Further larger studies should be conducted to validate the results.

The role of pineal gland volume in the development of scoliosis.

Adolescent idiopathic scoliosis (AIS) is believed to be caused by genetic, neurological, osseous growth anomalies, histological variables including muscle fiber percentage and core structure changes, metabolic and hormonal dysfunction, vestibular dysfunction, and platelet microarchitecture. The objective of this study was to contribute to the determination of the cause of AIS by analyzing the changes in pineal gland volume in AIS cases. Study (AIS) and control group were each comprised of 26 patients who met the inclusion requirements. Scoliosis radiograph and MRI of the pineal glands were used for radiological examinations. The distribution of age, gender, Risser grading for skeletal radiological development, and sexual maturation according to Tanner categorization were uniform and statistically insignificant between groups. When the pineal gland volumes of the cases were evaluated according to age, the AIS group was found to have significantly reduced pineal gland volumes in all age groups. The pineal gland volume was found to be 38.1% lower in the AIS group compared to the control group (p˂0.001). In the AIS group, patients aged 13years had the lowest pineal gland volume (77.2 ± 13.86 mm3), while patients aged 15years had the highest volume (97.9 ± 16.47 mm3). Changes in pineal gland volume support the role of the pineal gland in the etiopathogenesis of AIS.

A perception bias of the gravitational vertical is confirmed in Adolescent Idiopathic Scoliosis.

Adolescent Idiopathic Scoliosis (AIS) is the most frequent spine deformity in adolescence. The cause of AIS remains unknown. Several studies show that AIS can be associated with a perception bias of gravitational vertical. In particularly, AIS patients with a right thoracic convexity exhibit deviation of the Subjective Postural Vertical. The origin of this disturbance could be located in trunk proprioceptive graciveptors. We wanted to verify this result with a population of lumbar and thoracolumbar AIS with left convexity. It was a multicenter, cross-sectional case-control study. Thirty adolescents with left lumbar or thoraco-lumbar AIS (age 14.3 ± 1.7 years; Cobb angle 27.6° ± 6.1°) and 30 controls matched for age (14.0 ± 1.5 years), were compared for Subjective Visual Vertical (SVV) measured in static and dynamic (optokinetic stimulation) conditions, and Subjective Postural Vertical (SPV). For SVV, there was no difference in the two groups, for static and dynamic conditions. The SPV was significantly different between the two groups (p < 0.0001). The SPV was shifted to the left for most of the AIS patients (med - 2.4°[- 3.6; - 1.7]) compared with controls (med 0°[- 0.5; 1.7]). Adolescents with AIS perceived verticality with significant greater uncertainty in postural modality than controls (p = 0.017). Our study confirms a significant directional bias in the orientation of SPV in left lumbar or thoraco-lumbar AIS. This confirmation paves the way to a new physiopathological model focused on trunk proprioception. III.

Anterior lengthening in scoliosis occurs only in the disc and is similar in different types of scoliosis.

Relative anterior spinal overgrowth (RASO) was proposed as a generalized growth disturbance and a potential initiator of adolescent idiopathic scoliosis (AIS). However, anterior lengthening was also observed in neuromuscular (NM) scoliosis, was shown to be restricted to the apical areas and to be located in the intervertebral discs, not in the bone. In this study the goal was to determine if other scoliotic curves of known origin exhibit the similar mechanism of anterior lengthening without changes in the vertebral body. Therefore CT-scans of 18 patients in whom a short segment congenital malformation had led to a long thoracic compensatory curve without bony abnormality were included. Of each vertebral body and intervertebral disc in the compensatory curve, the anterior and posterior length was measured on CT-scans in the exact mid-sagittal plane, corrected for deformity in all three planes. The total AP% of the compensatory curve in congenital scoliosis showed a lordosis (+1.8%) that differed from the kyphosis in non-scoliotic controls (-3.0%; p<0.001), and was comparable to AIS (+1.2%) and NM scoliosis (+0.5%). This anterior lengthening was not located in the bone; the vertebral body AP% showed a kyphosis (-3.2%), similar to non-scoliotic controls (-3.4%), as well as AIS (-2.5%) and NM scoliosis (-4.5%; p=1.000). However, the disc AP% showed a lordosis (+24.3%), which sharply contrasts to the kyphotic discs of controls (-1.5%; p<0.001), but was similar to AIS (+17.5%) and NM scoliosis (+20.5%). The results demonstrate that anterior lengthening is part of the three-dimensional deformity in different types of scoliosis and is exclusively located in the intervertebral discs. The bony vertebral bodies maintain their kyphotic shape, which indicates that there is no active bony overgrowth. Anterior lengthening appears to be a passive result of any scoliotic deformity, rather than being related to the specific cause of AIS.

The uncoupled anterior and posterior spinal ligament tension (UAPLT) – An improvement to three-dimensional spring model of adolescent idiopathic scoliosis (AIS) pathogenesis

The pathogenesis of Adolescent Idiopathic Scoliosis (AIS) remains unclear. Previous research proposed that ligament laxity is a clinical feature that can be easily overlooked in patients with AIS. We speculated a new hypothesis which is an improvement of our three-dimensional spring model hypothesis of AIS pathogenesis. The tethered string in the spring model stimulates the spinal ligament instead of spinal cord. Spinal overgrowth in the adolescent age leads to higher tension of posterior spinal ligament. And the ligament laxity leads to lower tension of anterior spinal ligament. This uncoupled anterior and posterior spinal ligament tension maybe the key cause of AIS.

A reduced-order model of the spine to study pediatric scoliosis.

The S-shaped curvature of the spine has been hypothesized as the underlying mechanical cause of adolescent idiopathic scoliosis. In earlier work, we proposed a reduced-order model in which the spine was viewed as an S-shaped elastic rod under torsion and bending. Here, we simulate the deformation of S-shaped rods of a wide range of curvatures and inflection points under a fixed mechanical loading. Our analysis determines three distinct axial projection patterns of these S-shaped rods: two loop (in opposite directions) patterns and one Lemniscate pattern. We further identify the curve characteristics associated with each deformation pattern, showing that for rods deforming in a Loop1 shape the position of the inflection point is the highest and the curvature of the rod is smaller compared to the other two types. For rods deforming in the Loop2 shape, the position of the inflection point is the lowest (closer to the fixed base) and the curvatures are higher than the other two types. These patterns matched the common clinically observed scoliotic curves-Lenke 1 and Lenke 5. Our S-shaped elastic rod model generates deformations that are similar to those of a pediatric spine with the same sagittal curvature characteristics and it can differentiate between the clinically observed deformation patterns.

Anterior lengthening in scoliosis occurs only in the disc and is similar in different types of scoliosis

BACKGROUND CONTEXTRelative anterior spinal overgrowth was proposed as a generalized growth disturbance and a potential initiator of adolescent idiopathic scoliosis (AIS). However, anterior lengthening has also been observed in neuromuscular (NM) scoliosis and was shown to be restricted to the apical areas and located in the intervertebral discs, not in the bone. This suggests that relative anterior spinal overgrowth does not rightfully describe anterior lengthening in scoliosis, as it seems not a generalized active growth phenomenon, nor specific to AIS. PURPOSETo determine if compensatory curves in congenital scoliosis exhibit a mechanism of anterior lengthening without changes in the vertebral body, similar to curves in AIS and NM scoliosis. STUDY DESIGN/SETTINGCross-sectional. PATIENT SAMPLECT-scans were included of patients in whom a short segment congenital malformation had led to a long thoracic compensatory curve without bony abnormality. Based on data of other scoliosis types, the calculated required sample size was n=12 to detect equivalence of vertebral bodies as compared with nonscoliotic controls. Out of 143 congenital scoliosis patients, 18 fit the criteria and compared with 30 nonscoliotic controls, 30 AIS and 30 NM scoliosis patients. OUTCOME MEASURESThe anterior-posterior length discrepancy (AP%) of the total curve and for vertebral bodies and intervertebral discs separately. METHODSOf each vertebral body and intervertebral disc in the compensatory curve, the anterior and posterior length was measured on CT-scans in the exact mid-sagittal plane, corrected for deformity in all three planes. The AP% was calculated for the total compensatory curve (Cobb-to-Cobb) and for the vertebral bodies and the intervertebral discs separately. Positive AP% indicated that the anterior side was longer than the posterior side. RESULTSThe total AP% of the compensatory curve in congenital scoliosis showed lordosis (+1.8%) that differed from the kyphosis in nonscoliotic controls (−3.0%; p<.001) and was comparable to the major curve in AIS (+1.2%) and NM scoliosis (+0.5%). This anterior lengthening was not located in the bone; the vertebral body AP% showed kyphosis (−3.2%), similar to nonscoliotic controls (−3.4%) as well as AIS (−2.5%) and NM scoliosis (−4.5%; p=1.000). However, the disc AP% showed lordosis (+24.3%), which sharply contrasts to the kyphotic discs of controls (−1.5%; p<.001), but was similar to AIS (+17.5%) and NM scoliosis (+20.5%). CONCLUSIONSThe current study on compensatory curves in congenital scoliosis confirms that anterior lengthening is part of the three-dimensional deformity in different types of scoliosis and is exclusively located in the intervertebral discs. The bony vertebral bodies maintain their kyphotic shape, which indicates that there is no active anterior bony overgrowth. Anterior lengthening appears to be a passive result of any scoliotic deformity, rather than being related to the specific cause of AIS.

Asymmetric Unilateral Vestibular Perception in Adolescents With Idiopathic Scoliosis.

The cause of Adolescent Idiopathic Scoliosis (AIS) remains unclear, but one proposed cause of AIS is asymmetric vestibular function and the related descending drive to the spine musculature. The objective of this study was to determine if asymmetric vestibular function is present in individuals with AIS. Ten individuals with AIS (8F, 2M) and 10 healthy age- and sex-matched controls were exposed to 10s-long virtual rotations induced by monaural or binaural electrical vestibular stimulation (EVS), and 10s-long real rotations delivered by a rotating chair. Using a forced-choice paradigm, participants indicated their perceived rotation direction (right or left) to stimuli of varying intensity. A Bayesian adaptive algorithm adjusted the stimulus intensity and direction to identify a stimulus level, which we called the direction recognition threshold, at which participants correctly identified the rotation direction 69% of the time. For unilateral vestibular stimuli (monaural EVS), the direction recognition thresholds were more asymmetric in all participants with AIS compared to control participants [(0.22–1.00 mA) vs. (0.01–0.21 mA); p < 0.001]. For bilateral vestibular stimuli, however, the direction recognition thresholds did not differ between groups for either the real or virtual rotations (multiple p > 0.05). Previous reports of semicircular canal orientation asymmetry in individuals with AIS could not explain the magnitude of the vestibular function asymmetry we observed, suggesting a functional cause to the observed vestibular asymmetry. Thus, the present results suggest that a unilateral vestibular dysfunction is linked to AIS, potentially revealing a new path for the screening and monitoring of scoliosis in adolescents.

Evaluation of Selected Parameters of Calcium and Phosphate Metabolism in Children with Adolescent Idiopathic Scoliosis.

The multifactor aetiology of adolescent idiopathic scoliosis is commonly acknowledged. Both multivariate analyses of large study groups and the search for causes of adolescent idiopathic scoliosis and its progression in individual patients indicate that the aetiopathogenesis of this disorder is remarkably complex. The discovery of novel bone turnover markers, such as Klotho protein and FGF-23, means that their role in this condition also has to be considered. The aim of this paper is to evaluate the FGF-23 and Klotho protein concentration profiles as new contributors to the regulation of calcium and phosphate metabolism in children with adolescent idiopathic scoliosis and compare them with the values seen in healthy children. The study assessed a total of 70 children, including 35 children treated at the postural defects clinic of the Health Care Facility in Oleśno following a diagnosis of adolescent idiopathic scoliosis and 35 healthy children who constituted a control group. The levels of classic bone turnover markers, such as calcium and phosphorus concentration, alkaline phosphatase, 25-OH-D, and parathyroid hormone (PTH) activity, and of newly discovered contributors to calcium and phosphate metabolism regulation, namely Klotho protein and FGF-23, were determined in both groups. There were statistically significant differences in the levels of basic parameters of calcium and phosphate metabolism between children with scoliosis and the control group, with scoliotic patients showing elevated calcium and 25-OH-D levels and reduced parathyroid hormone levels. Klotho protein levels in children with scoliosis were significantly lower than in the control group. Moreover, the scoliotic patients showed a marked trend towards higher FGF-23 levels as compared to the control group. 1. Adolescent idiopathic scoliosis is characterised by multi-level abnormalities of calcium and phosphate metabolism. 2. The increased FGF-23 levels and reduced Klotho protein concentrations found in serum samples collected from children with ado-lescent idiopathic scoliosis may suggest that these hormones play a role in the aetiopathogenesis of the disorder.

Do Adolescents With Idiopathic Scoliosis Have an Erroneous Perception of the Gravitational Vertical?

Study designMulticenter, case-control study. ObjectivesDemonstrate altered perception of verticality in AIS compared with matched controls. Summary of background dataThe cause of adolescent idiopathic scoliosis (AIS) remains to be found. AIS is associated with neurosensorial anomalies, in particular, altered control of orthostatic posture. During kinetic activity, the upright posture, in humans, is determined in reference to the gravitational vertical (GV). We hypothesized that in AIS, there is a discordance in the perception of the GV and the true GV. In AIS, the longitudinal axis of the body would thus be misoriented because of an erroneous perception of the GV. MethodsThirty adolescents with right thoracic AIS (age 14.23 ± 1.75 years; Cobb angle 31.97°± 12.83°) and 30 controls matched for age (13.93 ± 1.85 years), body mass index, Tanner stage, and handedness were compared for subjective visual vertical (SVV) measured in static and dynamic (optokinetic stimulation) conditions, and subjective postural vertical (SPV). ResultsThere was no difference in the two groups, AIS and controls, for SVV. The SPV was significantly different between the two groups (p = .00023). The SPV was shifted to the right for most of the AIS patients (2.13°± 2.22°) compared with controls (–0.08°±1.40°). There was a significant correlation between SPV and clinical frontal tilt in the AIS patients. ConclusionOur findings demonstrate that patients with right thoracic AIS have an erroneous perception of the GV. In most AIS patients, SPV was shifted to the right, with no alteration of the SVV. AIS might be the consequence of a reoriented longitudinal body axis aligned with an erroneous vertical reference. The underlying mechanism might involve dysfunction of trunk graviceptors. The primary or secondary nature of this dysfunction remains an open question.

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study

ObjectiveThe 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little...

Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis.

Mutation analysis of a candidate disease gene in a cohort of patients with moderate to severe Adolescent idiopathic scoliosis (AIS). To investigate if damaging mutations in the planar cell polarity gene VANGL1 could be identified in AIS patients. AIS is a spinal deformity which occurs in 1% to 3% of the population. The cause of AIS is often unknown, but genetic factors are important in the etiology. Rare variants in genes encoding regulators of WNT/planar cell polarity (PCP) signaling were recently identified in AIS patients. We analyzed the coding region of the VANGL1 gene for mutations using Sanger sequencing in 157 unrelated patients with moderate to severe AIS. The frequency of mutations in the patient cohort was compared with their frequency in a large cohort of controls. Functional effect of mutations were predicted in silico and analyzed in vitro by transfection of normal and mutant recombinant VANGL1 protein in Madin-Darby Canine Kidney (MDCK) cells. Cellular localization of recombinant proteins was analyzed by immunofluorescence microscopy analysis. In the patient cohort, we identified two rare missense mutations in VANGL1, encoding a receptor involved in WNT/PCP signaling. The mutations, p.I136N and p.F440 V, are very rare in the normal population. Both mutations are predicted to be damaging, and to affect evolutionary conserved amino acid residues of VANGL1. Functional analysis in MDCK cells showed that the mutations abolished the normal translocation of VANGL1 to the cell membrane. Our data support that mutations in genes involved in WNT/PCP signaling may be associated with AIS, but replication in other patient cohorts and further analysis of the role of WNT/PCP signaling in AIS is needed. 4.

A Data-Driven Decision Support System for Scoliosis Prognosis

A decision support system with data-driven methods is of great significance for the prognosis of scoliosis. However, developing an accurate and interpretable data-driven decision support system is challenging: 1) the scoliosis data collected from clinical environments is heterogeneous, unstructured, and incomplete; 2) the cause of adolescent idiopathic scoliosis is still unknown, and the effects of some measured indicators are not clear; and 3) some treatments like wearing a brace will affect the progression of scoliosis. The main contributions of the paper include: 1) propose and incorporate different imputation methods like Local Linear Interpolation (LLI) and Global Statistic Approximation (GSA) to deal with complicated types of incomplete data in clinical environments; 2) identify important features that are relevant to the severity of scoliosis with embedded method; and 3) establish and compare the scoliosis prediction models with multiple linear regression, ${k}$ nearest neighbor, tree, support vector machine, and random forest algorithms. The prediction performance is evaluated in terms of mean absolute error, root mean square error, mean absolute percentage error, and the Pearson correlation coefficient. With only a few critical features, the prediction models can achieve satisfactory performance. Experiments show that the models are highly interpretable and viable to support the decision-making in clinical environments.

Investigating Human VANGL1, as a Candidate Gene for Adolescent Idiopathic Scoliosis

Introduction The human VANGL1 genes has been predicted to be associated with idiopathic scoliosis, as a mutation (c.676C &gt; T, L226F) was identified in a family with dominant inheritance of the disease. A previous investigation of the gene revealed the candidate to segregate, with all but one family member (Sharma, et al. ASHG 2012 Annual Meeting Program Guide. 2012). Adolescent idiopathic scoliosis (AIS) is generally considered multigenetic, but the determining genes remain yet to be characterized. In this study, we have examined VANGL1 as a contributor to the phenotype of AIS. Materials and Methods We have conducted automated Sanger sequencing of the seven coding exons of VANGL1 gene in a disease cohort of 170 AIS patients ( n = 340) and 177 controls ( n = 354). Localization of mutated VANGL1 proteins was investigated in cell systems using immunofluorescence microscopy. Results Two novel mutations, each in separate individuals within the considered disease cohort, were identified. One mutation is situated in the third coding exon, which encodes the transmembrane parts of the VANGL1 protein. This mutation is a c.407T &gt; A (I136N) conversion, for which the patient is heterozygotes. Furthermore, this mutation was also identified in the dizygotic unaffected twin of the patient. The second mutation was found in the seventh coding exon, which encodes the C-terminal of the VANGL1 protein. This mutation is a c.1318T &gt; G (F440V) conversion, for which the patient is also heterozygotes. Neither of the identified mutations was present in the sequenced controls or in 2000 Danish exomes (Lohmueller et al. Am J Hum Genet 2013;93:1072–1086). The F440V mutation results in altered localization of the VANGL1 protein, from very clear membrane association to a cytoplasmic distribution, with possible retainment in endoplasmic reticulum and the Golgi apparatus, near the cell nucleus. Conclusion Our results show that mutations in the VANGL1 gene can cause AIS and suggest that defects in planar cell polarity may be an underlying cause of AIS. Examination of the expression of VANGL1 in juvenile or adult stages of life is wanted, as well as examinations of effects on downstream targets of mutated VANGL1 and polarity in affected cells.

SNPping away at the genetic basis of adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is a genetically complex disorder of spine development, defined by a lateral curvature of the spine of 10º or greater which affects children during their pubertal growth spurt. Prior linkage and candidate gene approaches to elucidating the genetic basis of AIS have been of limited use for identification of candidate genes for this condition. Genome wide association studies (GWAS) have recently identified single nucleotide polymorphisms (SNPs) in LBX1 and G protein-coupled receptor 126 (GPR126) that contribute to AIS occurrence. These discoveries support prior etiologic hypotheses regarding altered somatosensory function and skeletal growth in AIS. However, these loci account for a small percentage of the phenotypic variance associated with AIS, indicating the vast majority of the genetic causes of AIS remain to be delineated. A major translational application regarding understanding the genetic contributions to AIS relates to bracing efficacy.

What is the best way to determine the cause of adolescent idiopathic scoliosis?

Adolescent idiopathic scoliosis (AIS) is defined as a lateral deviation of the spine associated with rotation that is found in healthy individuals and has no known cause. These subjects do not exhibit neuromuscular conditions or other disorders until the onset of sexual maturation at approximately 10 years of age (1). Diagnosis is challenging; radiography reveals curves of more than 10 degrees by Cobb method (2) without vertebral abnormalities. Additionally, the angular deviation required for diagnosis is controversial, which further complicates diagnosis. In 1995, Winter questioned the accepted diagnostic value used to characterize the disease and proposed that a curve of 5 degrees should be considered pathological or a variation from a normal spine (3). Furthermore, it is important to observe how rotation impacts the condition, as this feature may be more characteristic of the disease than the curvature itself.

Pathogenesis of Adolescent Idiopathic Scoliosis.

Yagi, Mitsuru MD, PhD1,a; Machida, Masafumi MD, PhD1; Asazuma, Takashi MD, PhD1 Author Information