Lateral Curvature Of Spine Research Articles

Genetics and pathogenesis of scoliosis

BackgroundScoliosis is defined as a lateral spine curvature of at least 10° with vertebral rotation, as seen on a posterior-anterior radiograph, often accompanied by reduced thoracic kyphosis. Scoliosis affects all age groups: idiopathic scoliosis is the most common spinal disorder in children and adolescents, while adult degenerative scoliosis typically affects individuals over fifty. In the United States, approximately 3 million new cases of scoliosis are diagnosed annually, with a predicted increase in part due to global aging. Despite its prevalence, the etiopathogenesis of scoliosis remains unclear. MethodsThis comprehensive review analyzes the literature on the etiopathogenetic evidence for both idiopathic and adult degenerative scoliosis. PubMed and Google Scholar databases were searched for studies on the genetic factors and etiopathogenetic mechanisms of scoliosis development and progression, with the search limited to articles in English. ResultsFor idiopathic scoliosis, genetic factors are categorized into three groups: genes associated with susceptibility, disease progression, and both. We identify gene groups related to different biological processes and explore multifaceted pathogenesis of idiopathic scoliosis, including evolutionary adaptations to bipedalism and developmental and homeostatic spinal aberrations. For adult degenerative scoliosis, we segregate genetic and pathogenic evidence into categories of angiogenesis and inflammation, extracellular matrix degradation, neural associations, and hormonal influences. Finally, we compare findings in idiopathic scoliosis and adult degenerative scoliosis, discuss current limitations in scoliosis research, propose a new model for scoliosis etiopathogenesis, and highlight promising areas for future studies. ConclusionScoliosis is a complex, multifaceted disease with largely enigmatic origins and mechanisms of progression, keeping it under continuous scientific scrutiny.

The Effect of the Direction of Primary Lateral Spinal Curvature on Postural Stability in Children with Scoliosis.

Background: The purpose of the present study was to determine the impact of the direction and magnitude of primary lateral spinal curvature in children with scoliosis. Methods: Ninety-six children diagnosed with scoliosis were included in the study group, and fifty healthy peers were included in the control group. Posturographic measurements of body weight distribution and posturometric tests with eyes open and closed were performed. Results: Based on the symmetry index values, the study group was divided into children with symmetrical and asymmetrical body weight distributions on the basis of support. Then, taking into account the direction of the primary curvature, children with asymmetrical body weight distributions were divided into: (1) children with left-sided or right-sided scoliosis with overload on the same side of the body; and (2) children with left-sided or right-sided scoliosis with overload on the opposite side of the body. According to both posturometric tests, increased CoP spatial displacement was observed in the children with scoliosis compared to the healthy controls. The obtained results showed that increased asymmetry index and Cobb angle values significantly increase medial-lateral postural instability in children with scoliosis. Conclusions: These findings suggest that treatment to restore symmetric body weight distribution may prevent the progression of postural instability; however, this requires confirmation through further investigation.

Examining the Impact of Myofascial Release and Chest Mobility Exercises on Functional Scoliosis: A Case Report

Scoliosis is characterised by lateral spinal curvature, twisting of the spine and chest, and abnormalities in the sagittal profile. Physical therapy plays a crucial role in preventing the progression of scoliosis and its associated deformities, and in improving outcomes and quality of life. However, specific treatment methods for correcting the curvature and enhancing function are not extensively documented. Therefore, the present case report incorporated several techniques. A 17-year-old male visited the Physiotherapy Department with complaints of continuous pain in his lower back for the past 45 days. Due to the pain, the patient was not able to play football and sleep properly. Additionally, there was a notable postural deviation with a history of more than six years. His parents ignored his walking as stylish. Moreover, the patient stated that he had continuous pain, was not able to bend the spine backward, concentrate on studies and attend social gatherings. Upon spinal examination, scoliosis with a dropped right shoulder was observed. The patient was effectively treated using Myofascial Release (MFR) techniques combined with exercises to improve chest mobility. After management, the pain score showed a reduction, and there was improvement in the disability questionnaire. Significant changes were also noted in X-ray assessments and Range of Motion (ROM).

Spine Deformity Assessment for Scoliosis Diagnostics Utilizing Image Processing Techniques: A Systematic Review

Spinal deformity refers to a range of disorders that are defined by anomalous curvature of the spine and may be classified as scoliosis, hypo/hyperlordosis, or hypo/hyperkyphosis. Among these, scoliosis stands out as the most common type of spinal deformity in human beings, and it can be distinguished by abnormal lateral spine curvature accompanied by axial rotation. Accurate identification of spinal deformity is crucial for a person’s diagnosis, and numerous assessment methods have been developed by researchers. Therefore, the present study aims to systematically review the recent works on spinal deformity assessment for scoliosis diagnosis utilizing image processing techniques. To gather relevant studies, a search strategy was conducted on three electronic databases (Scopus, ScienceDirect, and PubMed) between 2012 and 2022 using specific keywords and focusing on scoliosis cases. A total of 17 papers fully satisfied the established criteria and were extensively evaluated. Despite variations in methodological designs across the studies, all reviewed articles obtained quality ratings higher than satisfactory. Various diagnostic approaches have been employed, including artificial intelligence mechanisms, image processing, and scoliosis diagnosis systems. These approaches have the potential to save time and, more significantly, can reduce the incidence of human error. While all assessment methods have potential in scoliosis diagnosis, they possess several limitations that can be ameliorated in forthcoming studies. Therefore, the findings of this study may serve as guidelines for the development of a more accurate spinal deformity assessment method that can aid medical personnel in the real diagnosis of scoliosis.

Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review

BackgroundAdolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥10° with rotation. Approximately 2%–3% of children across populations are affected with AIS, and this condition is responsible for...

Efficacy of spinal manipulations and Schroth exercises on psychological parameters in patients with functional scoliosis: a randomised controlled trial

Functional scoliosis is defined as the reversible and temporary lateral spinal curvature that mainly occurs due to abnormal postural habits that leads to non-structural and compensatory changes in spine. Functional scoliosis can lead to the development of mental health issues, such as stress, anxiety and depression. The purpose of the present study was to evaluate the effects of spinal manipulation techniques and Schroth exercises on psychological parameters in patients with functional scoliosis. The subjects were randomly allocated into experimental (n=31) and control group (n=31). Spinal manipulation techniques and Schroth exercises were given to the patients of experimental group, while only Schroth exercises were given to the patients of control group. Outcome measures were Depression, Anxiety & Stress Score that was examined by using ‘DASS-21 questionnaire’. Treatment was given for four weeks, thrice weekly. After the completion of four weeks, DASS scores were obtained from the participants. Patients were followed up after 2 months and data was collected again. Repeated measures ANOVA were used to compare the mean changes within-group. Independent t-test was used to analyse the mean improvement between-group. Results suggested that there was a statistically significant difference between pre-/post and pre-/follow-up scores of the DASS, but there was statistical non-significant difference between post-/follow-up scores of the DASS. Results also suggested that experimental group showed better improvement compared to the control group. This study concluded that the combine use of spinal manipulation techniques and Schroth exercise protocol can significantly reduce the psychosomatic symptoms in functional scoliosis. Clinical Trial Registry of India: CTRI/2020/02/023221

P.27 Spinal aspects in DMD patients on intermittent corticosteroid dosing - a single center study

Scoliosis and low bone mineral density (BMD) are common in Duchenne muscular dystrophy (DMD). Treatment with corticosteroids (CS) delays the onset of scoliosis, but also induce low BMD, resulting in increased fracture risk. We report natural history data in DMD patients treated with CS in a 10 days on/off scheme. Spinal imaging was obtained by yearly anterioposterior radiographs. Scoliosis was defined as a lateral spinal curvature with a Cobb's angle of more than 10 degrees as assessed by a qualified radiologist. Yearly BMD Z-scores were measured with dual-energy X-ray absorptiometry (DXA) scan of the lumbar spine. Vertebral fractures assessment (VFA) was done using physician viewer from Hologic. Vertebral height loss was assessed by a trained technician. Data from 112 patients were reviewed. Thirty-eight were excluded because of missing data (27) or different CS regime (11). From the remaining 74 patients, 499 AP radiographs and 489 DXA scans were included from 2010 to 2021. Sixty-four patients (86.5%) developed scoliosis (median age 10.8 yrs, 95% CI: 9.6-12.2). In this group mean annual increase in Cobb's angle was 7.8 degrees. Scoliosis progressed to 20 degrees in 34 (53.1%) and to 30 degrees in 23 (35.9%) patients. Spinal fusion was done in 18 (median age 15.5 yrs). BMD Z-score declined below -2.0 in 34% of the patients. Z-scores were significantly lower after loss of ambulation (-1.58 vs -0.75, p-value<0.01 using a linear mixed effect model). Of the 74 patients, 61 patients underwent a total of 238 VFA`s, with 17 patients having vertebral height loss at some point during follow-up. There was no correlation between Z-scores and development of scoliosis. Scoliosis is common in DMD patients on intermittent CS treatment, whereas vertebral fractures may be less prominent when compared to daily dosing. Natural history data are important to discuss risk-benefit balances in shared decision processes.

Using machine learning to automatically measure axial vertebral rotation on radiographs in adolescents with idiopathic scoliosis.

Adolescent idiopathic scoliosis is a 3D lateral spinal curvature coupled with axial vertebral rotation (AVR). Measuring AVR during clinic is important because it affects treatment options and predicts the risk of scoliosis progression. However, manual measurements are time consuming and have high inter-rater and intra-rater errors. This study aimed to develop a machine learning algorithm based on convolutional neural networks (CNNs) to automatically calculate AVR on posteroanterior radiographs using three different segmentations including spinal column, individual vertebra, and pedicles. Separate labeling and training processes were performed on each of the developed segmentation algorithms. The final machine learning software was tested on 221 vertebrae from 17 spinal radiographs. An experienced rater with over 25 years of experience measured the 221 vertebral rotations manually. By comparing the manual and the fully automatic measurements, 81% (178/221) of the automatic measurements were within the clinical acceptance error (±5°). The mean absolute difference and the standard deviation between the manual and automatic measurements was 4.3°±5.7°. Based on the Bland-Altman plot, the manual and automatic measurements had a strong correlation and no bias. The error did not relate to the severity of the rotation. This method is fully automatic, and the result is comparable to others.

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

BackgroundAdolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥ 10° with rotation. Approximately 2–3% of children in most populations are affected with AIS, and this condition is responsible for approximately $1.1 billion in surgical costs to the US healthcare system. Although a genetic factor for AIS has been demonstrated for decades, with multiple potentially contributory loci identified across populations, treatment options have remained limited to bracing and surgery.MethodsThe databases MEDLINE (via PubMed), Embase, Google Scholar, and Ovid MEDLINE will be searched and limited to articles in English. We will conduct title and abstract, full-text, and data extraction screening through Covidence, followed by data transfer to a custom REDCap database. Quality assessment will be confirmed by multiple reviewers. Studies containing variant-level data (i.e., GWAS, exome sequencing) for AIS subjects and controls will be considered. Outcomes of interest will include presence/absence of AIS, scoliosis curve severity, scoliosis curve progression, and presence/absence of nucleotide-level variants. Analyses will include odds ratios and relative risk assessments, and subgroup analysis (i.e., males vs. females, age groups) may be applied. Quality assessment tools will include GRADE and Q-Genie for genetic studies.DiscussionIn this systematic review, we seek to evaluate the quality of genetic evidence for AIS to better inform research efforts, to ultimately improve the quality of patient care and diagnosis.Systematic review registrationPROSPERO registration #CRD42021243253

Genetic animal modeling for idiopathic scoliosis research: history and considerations.

Idiopathic scoliosis (IS) is defined as a structural lateral spinal curvature ≥ 10° in otherwise healthy children and is the most common pediatric spinal deformity. IS is known to have a strong genetic component; however, the underlying etiology is still largely unknown. Animal models have been used historically to both understand and develop treatments for human disease, including within the context of IS. This intended audience for this review is clinicians in the fields of musculoskeletal surgery and research. In this review article, we synthesize current literature of genetic animal models of IS and introduce considerations for researchers. Due to complex genetic and unique biomechanical factors (i.e., bipedalism) hypothesized to contribute to IS in humans, scoliosis is a difficult condition to replicate in model organisms. We advocate careful selection of animal models based on the scientific question and introduce gaps and limitations in the current literature. We advocate future research efforts to include animal models with multiple characterized genetic or environmental perturbations to reflect current understanding of the human condition.

Convolutional Neural Network to Segment Laminae on 3D Ultrasound Spinal Images to Assist Cobb Angle Measurement.

A recent innovation in scoliosis monitoring is the use of ultrasonography, which provides true 3D information in one scan and does not emit ionizing radiation. Measuring the severity of scoliosis on ultrasonographs requires identifying lamina pairs on the most tilted vertebrae, which is difficult and time-consuming. To expedite and automate measurement steps, this paper detailed an automatic convolutional neural network-based algorithm for identifying the laminae on 3D ultrasonographs. The predicted laminae were manually paired to measure the lateral spinal curvature on the coronal view, called the Cobb angle. In total, 130 spinal ultrasonographs of adolescents with idiopathic scoliosis recruited from a scoliosis clinic were selected, with 70 for training and 60 for testing. Data augmentation increased the effective training set size to 140 ultrasonographs. Semi-automatic Cobb measurements were compared to manual measurements on the same ultrasonographs. The semi-automatic measurements demonstrated good inter-method reliability (ICC3,1 = 0.87) and performed better on thoracic (ICC3,1 = 0.91) than lumbar curves (ICC3,1 = 0.81). The mean absolute difference and standard deviation between semi-automatic and manual was 3.6°±3.0°. In conclusion, the semi-automatic method to measure the Cobb angle on ultrasonographs is feasible and accurate. This is the first algorithm that automates steps of Cobb angle measurement on ultrasonographs.

Automating Scoliosis Measurements in Radiographic Studies with Machine Learning: Comparing Artificial Intelligence and Clinical Reports.

Scoliosis is a condition of abnormal lateral spinal curvature affecting an estimated 2 to 3% of the US population, or seven million people. The Cobb angle is the standard measurement of spinal curvature in scoliosis but is known to have high interobserver and intraobserver variability. Thus, the objective of this study was to build and validate a system for automatic quantitative evaluation of the Cobb angle and to compare AI generated and human reports in the clinical setting. After IRB was obtained, we retrospectively collected 2150 frontal view scoliosis radiographs at a tertiary referral center (January 1, 2019, to January 1, 2021, ≥ 16years old, no hardware). The dataset was partitioned into 1505 train (70%), 215 validation (10%), and 430 test images (20%). All thoracic and lumbar vertebral bodies were segmented with bounding boxes, generating approximately 36,550 object annotations that were used to train a Faster R-CNN Resnet-101 object detection model. A controller algorithm was written to localize vertebral centroid coordinates and derive the Cobb properties (angle and endplate) of dominant and secondary curves. AI-derived Cobb angle measurements were compared to the clinical report measurements, and the Spearman rank-order demonstrated significant correlation (0.89, p < 0.001). Mean difference between AI and clinical report angle measurements was 7.34° (95% CI: 5.90-8.78°), which is similar to published literature (up to 10°). We demonstrate the feasibility of an AI system to automate measurement of level-by-level spinal angulation with performance comparable to radiologists.

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.

Adolescent idiopathic scoliosis (AIS) is a lateral spinal curvature >10° with rotation that affects 2–3% of healthy children across populations. AIS is known to have a significant genetic component, and despite a handful of risk loci identified in unrelated individuals by GWAS and next-generation sequencing methods, the underlying etiology of the condition remains largely unknown. In this study, we performed exome sequencing of affected individuals within 23 multigenerational families, with the hypothesis that the occurrence of rare, low frequency, disease-causing variants will co-occur in distantly related, affected individuals. Bioinformatic filtering of uncommon, potentially damaging variants shared by all sequenced family members revealed 1448 variants in 1160 genes across the 23 families, with 132 genes shared by two or more families. Ten genes were shared by >4 families, and no genes were shared by all. Gene enrichment analysis showed an enrichment of variants in cytoskeletal and extracellular matrix related processes. These data support a model that AIS is a highly polygenic disease, with few variant-containing genes shared between affected individuals across different family lineages. This work presents a novel resource for further exploration in familial AIS genetic research.

Automatic analysis method of 3D images in patients with scoliosis by quantifying asymmetry in transverse contours

Scoliosis is characterized by a lateral curvature of spine in the coronal plane of at least 10°, showing three-dimensional deformities of the torso. Recently, a 3D body scanner was proposed as an ionizing radiation-free method, supplementary to clinical examinations and X-rays, for assessing scoliosis and its progression. Here we present an automatic method of analysis of the 3D images of the body torso delivered by the scanner, with the objective of capturing and characterizing deformities in the torso due to scoliosis. The method quantifies asymmetries in each of the torso contours, extracted from 2D cross sections of the 3D torso images, transverse to the vertical axis of the body. Three parameters were calculated: (1) circularity, (2) difference between the areas to left and right of the spinous process (LRAsm), and (3) difference between the ratios width/depth to the left and right of the centroid of the contour (ASR). The method was verified by analyzing twenty-six computed tomography images of patients with different types of scoliosis. In patients with thoracic scoliosis both LRAsm and ASR were larger, that is the asymmetry was stronger, in the thoracic than in the lumbar region, whilst in patients with lumbar scoliosis the inverse was obtained. Furthermore, larger values of LRAsm coincided with the apex position of scoliosis. The circularity factor did not capture scoliosis-related asymmetries. It may, however, be useful in localizing the vertebral level during analysis of 3D scanner data. The method can have the potential to use it for follow-up examinations of scoliosis, in addition to clinical examinations. Further validation of the method requires its application to 3D body scanner data, particularly for more cases of severe scoliosis, which have more irregular transverse contours and thus potential for improvement.

Impact of mastectomy for breast cancer on spinal curvature: Considerations when treating patients with scoliosis.

Mastectomy has been shown to influence body posture in women; however, there are limited data outlining changes in spine curvature after mastectomy in patients with scoliosis. We sought to quantify changes in spine curvature after mastectomy for breast cancer. We conducted a retrospective review of 62 patients with scoliosis who underwent mastectomy for breast cancer at a single institution between 1995 and 2018. Preoperative and postoperative radiographs were used to measure Cobb angles to assess lateral spinal curvature. Changes in Cobb angle were compared using paired two-tailed t-tests. The relationship between mass of breast removed and changes in Cobb angle was modeled using a linear regression. The median follow-up after mastectomy was 7.9years (range 0.9-21.5). Median age was 62years (range 30-85). Of 62 patients, 10 (16%) expressed that their back pain became worse after mastectomy. Nineteen patients had evaluable radiographs before and after mastectomy. In these patients, the average change in Cobb angle was 4.7° (range -0.2-12.2). Cobb angle significantly increased after mastectomy (P<.0001). Although not statistically significant, average Cobb angle was greater for patients who underwent unilateral compared to bilateral mastectomy (P=.09). Mass of breast removed significantly correlated with the difference in Cobb angle for patients who underwent unilateral mastectomy (P=.0006), but not for bilateral mastectomy (P=.55). In this understudied patient population, mastectomy significantly increased the change in spine curvature. Further care should be taken to assess patient-reported pain and quality of life in patients with spine morbidity who undergo mastectomy for breast cancer.

Stress analysis in pedicle screw and bone interface by various contact models in scoliotic spine fixation

Scoliosis is a musculoskeletal condition that has an abnormal lateral spinal curvature as its main feature. By a level curvature condition, the scoliotic spine has to treat by surgery process to install an instrument or implant consists of pedicle screws, rods, and connectors in fixation of the spinal curvature. However, it is observed in many cases that several types of failure occur in the instrument and the bone - pedicle screw interface. One of the problems was related to screw loosening and pulled out from the spine. This paper observes and discusses the stress distribution numerically in the screws and bone interface in scoliotic spine fixation using finite element analysis. The contact interface is modeled variously by bonded contact and friction contact. It is found that in bonded connection between screws and bone generates lower maximum stress than friction contacts. The maximum stress is working in the screw and the stress distribution is more uniform along the contact surface. Therefore, the risk of pulling out the screws will be minimized. On the other hand, friction contact with low friction coefficients makes the stress distribution is concentrated in a specific region and increase the maximum stress in bone.

A semi-automatic 3D ultrasound reconstruction method to assess the true severity of adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is a three-dimensional (3D) spinal deformity. Current practice uses the Cobb method to measure spinal severity on postero-anterior (PA) radiographs. This method may underestimate spinal deformity and exposes patients to ionizing radiation, increasing the risk of cancer. This paper reports a new 3D ultrasound method using the voxel-based reconstruction technique with bilinear interpolation to reconstruct a 3D spinal image and measure true spinal curvature on the plane of maximal curvature (PMC). Axial vertebral rotation (AVR) was measured on the 3D image and utilized to estimate the PMC. In vitro phantom experiments and in vivo clinical study were conducted to evaluate reconstruction accuracy and measurement reliability. The in vitro study showed a high accuracy of the reconstruction of vertebrae with the mean absolute difference (MAD) < 3mm. The in vitro and in vivo measurements of AVR were reliable (> 0.90). The in vivo study also showed high intra- and inter-rater reliabilities of the PA and PMC Cobb angle measurements with ICC values > 0.90 and MADs within the clinical accepted tolerances. The PMC Cobb angles were up to 7° greater than their corresponding PA Cobb angles. This method demonstrated a non-ionizing radiation method to assess the actual severity of AIS. Graphical abstract Adolescent idiopathic scoliosis (AIS) is a lateral curvature of spine with vertebral rotation. Using the Cobb method to measure spinal severity on postero-anterior (PA) radiographs may under estimate its severity.

Efficacy of the use of the McKenzie and Vojta methods to treat discopathy-associated syndromes in the pediatric population.

This paper evaluates the efficacy of using the McKenzie and Vojta methods for patients with low back pain and the use of the DIERS Formetric 4D system as an objective diagnostic tool. The study enrolled 28 patients aged 15-17 years old. The patients were hospitalized at the Department of Orthopedics and Traumatology of the Świętokrzyskie Center for Pediatrics in Kielce with a diagnosis of back pain associated with a discopathy. The patients were rehabilitated according to the McKenzie and Vojta methods. Assessment by means of the DIERS Formetric system had taken place before the first therapy session and on the day that pain was eliminated to evaluate trunk inclination, angle of thoracic kyphosis, angle of lumbar lordosis, lateral deviation, trunk torsion, surface rotation and pelvic obliquity. Pain intensity and change in pain intensity over time were assessed by means of a numerical rating scale. Pain intensity was reduced to 0 over 3-12 days. The study participants demonstrated reduction in anterior trunk inclination of the mean value at 1.83°. The angle of thoracic kyphosis was also reduced by 7.95°. The angle of lordosis increased by 7.6°. The lateral spinal curvature was reduced by 8.92 mm. There was a reduction of 4.64° in trunk torsion. Surface rotation was reduced by 1.61° and pelvic obliquity was reduced by 3.78°. In discopathic patients, postural parameters comprising trunk inclination, angle of thoracic kyphosis, angle of lumbar lordosis, lateral deviation, trunk torsion, vertebral rotation and pelvic obliquity fail to reach Hartzmann's physiological reference ranges. A therapeutic intervention based on the Vojta and McKenzie methods may normalize the posture to physiological reference ranges and is effective in the treatment of patients with back pain. The DIERS system is an objective tool for tracing the effects of therapy in patients with back pain. Int J Occup Med Environ Health. 2019;32(1):33-41.

Incidence of scoliotic posture in school screening of urban children and adolescents: the case of Poznań, Poland

Postural defects including scoliotic posture constitute one of the most frequently observed health problems in school-aged children. The incidence of this multifactorial condition has been observed to increase recently. The aim of the study was to assess the incidence of scoliotic posture in primary and secondary school students living in a large city. The sample consisted of 1,325 boys and 1,355 girls, aged 6 to 18, living in the city of Poznań. Their postures were assessed through skilled visual inspection method based on the criteria delineated by Wiktor Dega. Additionally, measurements of scoliotic deformities were taken using the Bunnell’s scoliometer. It was found that the incidence of scoliosis assessed on the basis of Dega’s postural defect chart amounted in total to 14.6% in boys and 17% in girls. No substantial differences between boys and girls in particular age categories were found. Scoliometer examination appeared to be a more accurate method for screening scoliosis and revealed higher incidence of this condition in total and both in boys and girls as compared to the visual screening method. The contractures which may lead to scoliotic posture appeared most frequently in the knee joints, both in boys and in girls. The incidence of lateral spinal curvatures was related to age and increased with age. Scoliometer proved to be a more effective tool in detecting lateral spinal curvatures and should be more widely used in school healthcare.

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.

Idiopathic scoliosis (IS) is a structural lateral spinal curvature of ≥10° that affects up to 3% of otherwise healthy children and can lead to life-long problems in severe cases. It is well-established that IS is a genetic disorder. Previous studies have identified genes that may contribute to the IS phenotype, but the overall genetic etiology of IS is not well understood. We used exome sequencing to study five multigenerational families with IS. Bioinformatic analyses identified unique and low frequency variants (minor allele frequency ≤5%) that were present in all sequenced members of the family. Across the five families, we identified a total of 270 variants with predicted functional consequences in 246 genes, and found that eight genes were shared by two families. We performed GO term enrichment analyses, with the hypothesis that certain functional annotations or pathways would be enriched in the 246 genes identified in our IS families. Using three complementary programs to complete these analyses, we identified enriched categories that include stereocilia and other actin-based cellular projections, cilia and other microtubule-based cellular projections, and the extracellular matrix (ECM). Our results suggest that there are multiple paths to IS and provide a foundation for future studies of IS pathogenesis.