Isabelle Turgeon

Screening for adolescent idiopathic scoliosis: an information statement by the scoliosis research society international task force

BackgroundRoutine screening of scoliosis is a controversial subject and screening efforts vary greatly around the world.MethodsConsensus was sought among an international group of experts (seven spine surgeons and one clinical epidemiologist) using a modified Delphi approach. The consensus achieved was based on careful analysis of a recent critical review of the literature on scoliosis screening, performed using a conceptual framework of analysis focusing on five main dimensions: technical, clinical, program, cost and treatment effectiveness.FindingsA consensus was obtained in all five dimensions of analysis, resulting in 10 statements and recommendations. In summary, there is scientific evidence to support the value of scoliosis screening with respect to technical efficacy, clinical, program and treatment effectiveness, but there insufficient evidence to make a statement with respect to cost effectiveness. Scoliosis screening should be aimed at identifying suspected cases of scoliosis that will be referred for diagnostic evaluation and confirmed, or ruled out, with a clinically significant scoliosis. The scoliometer is currently the best tool available for scoliosis screening and there is moderate evidence to recommend referral with values between 5 degrees and 7 degrees. There is moderate evidence that scoliosis screening allows for detection and referral of patients at an earlier stage of the clinical course, and there is low evidence suggesting that scoliosis patients detected by screening are less likely to need surgery than those who did not have screening. There is strong evidence to support treatment by bracing.InterpretationThis information statement by an expert panel supports scoliosis screening in 4 of the 5 domains studied, using a framework of analysis which includes all of the World Health Organisation criteria for a valid screening procedure.

Three-Dimensional Spinal Morphology Can Differentiate Between Progressive and Nonprogressive Patients With Adolescent Idiopathic Scoliosis at the Initial Presentation: A Prospective Study

Study Design. This is a prospective case-control study. Objective. The objective of this study was to compare 3-dimensional (3D) morphological parameters of the spine at the first visit between a nonprogressive (NP) and a progressive (P) group of immature adolescent idiopathic scoliosis (AIS). Summary of Background Data. Prediction of curve progression remains challenging in AIS at the first visit. Prediction of progression is based on curve type, curve magnitude, and skeletal or chronological age. Methods. A prospective cohort of 133 AIS was followed from skeletal immaturity to maturity (mean, 37 mo). The first group was made up of patients with AIS with a minimum 6-degree progression of the major curve between the first and last follow-up (P) (n = 53) and the second group was composed of patients with NP who reached maturity with less than 6-degree progression (n = 81). Computerized measurements were taken on reconstructed 3-dimensional (3D) spine radiographs of the first visit. There were 6 categories of measurements: angle of plane of maximum curvature, Cobb angles (kyphosis, lordosis), 3D wedging (apical vertebra, apical disks), rotation (upper and lower junctional vertebra, apical vertebra, and thoracolumbar junction), torsion, and slenderness (height/width ratio). t tests were also conducted. Results. There was no statistical difference between the 2 groups for age and initial Cobb angle. P presented significant hypokyphosis, and parameters related to rotation presented significant statistical differences between NP and P (plane of maximal curvature, torsion, and apical axial rotation). Depth slenderness also presented statistical differences. Conclusion. This study confirms that even at the initial visit, 3D morphological differences exist between P and NP AIS. It supports the use of 3D reconstructions of the spine in the initial evaluation of AIS to help predict outcome. Level of Evidence: 3

Cell-based screening test for idiopathic scoliosis using cellular dielectric spectroscopy.

Study Design. A cell-based assay was developed to identify asymptomatic children at risk of developing idiopathic scoliosis (IS) and to stratify IS patients at an earlier stage in order to better predict their clinical outcome. Clinical validation of this assay was performed by testing IS patients at different stages, healthy control subjects, and asymptomatic offspring, born from at least one scoliotic parent, who are considered at risk of developing this disorder. Objective. Our goal was to develop and validate a clinical test for IS using cellular dielectric spectroscopy (CDS) and peripheral blood mononuclear cells (PBMCs). Summary of Background Data. We have previously demonstrated the occurrence of a melatonin signaling dysfunction in osteoblasts obtained from severely affected IS patients using a cAMP assay. This led us to stratify IS patients into 3 functional subgroups. Methods. A group of 44 patients with IS was compared with 42 healthy control subjects and 31 asymptomatic at-risk children. PBMCs were obtained after centrifugation on a Ficoll-gradient. Melatonin signal transduction was measured by CDS in the presence of varying concentrations of melatonin or iodomelatonin. Results. Osteoblasts from distinct functional subgroups were retested using CDS, allowing their classification into the same functional subgroups with both ligands as initially demonstrated using a cAMP assay. Clinical data obtained with CDS and PBMCs showed 100% specificity and 100% sensitivity because melatonin signaling impairment was observed only in IS patients and not in healthy controls. Assessment of the risk of developing a scoliosis in asymptomatic children was determined by CDS in 33% of asymptomatic children at risk, which was confirmed clinically within 24 months. Conclusion. This cell-based assay can serve as a presymptomatic screening test to identify asymptomatic children at risk of developing IS and may be used to improve stratification of patients, which in turn allow clinicians to predict their clinical outcome. Moreover, this functional blood test is advantageous because it can be performed without prior knowledge of specifically mutated genes causing IS.

The effectiveness of scoliosis screening programs: methods for systematic review and expert panel recommendations formulation.

BackgroundLiterature on scoliosis screening is vast, however because of the observational nature of available data and methodological flaws, data interpretation is often complex, leading to incomplete and sometimes, somewhat misleading conclusions. The need to propose a set of methods for critical appraisal of the literature about scoliosis screening, a comprehensive summary and rating of the available evidence appeared essential.MethodsTo address these gaps, the study aims were: i) To propose a framework for the assessment of published studies on scoliosis screening effectiveness; ii) To suggest specific questions to be answered on screening effectiveness instead of trying to reach a global position for or against the programs; iii) To contextualize the knowledge through expert panel consultation and meaningful recommendations. The general methodological approach proceeds through the following steps: Elaboration of the conceptual framework; Formulation of the review questions; Identification of the criteria for the review; Selection of the studies; Critical assessment of the studies; Results synthesis; Formulation and grading of recommendations in response to the questions. This plan follows at best GRADE Group (Grades of Recommendation, Assessment, Development and Evaluation) requirements for systematic reviews, assessing quality of evidence and grading the strength of recommendations.ConclusionsIn this article, the methods developed in support of this work are presented since they may be of some interest for similar reviews in scoliosis and orthopaedic fields.

Pediatric scoliosis predictive blood tests: progress and challenges for clinicians

Purpose There are great needs for innovative pharmacotherapies in combination with clinical tests to identify asymptomatic children at risk of developing scoliosis and symptomatic ones to predict who may be at risk of scoliotic curve progression. Early detection of scoliosis is critical to broaden the range of treatment options and increases effectiveness. Currently, there are no FDA cleared “presymptomatic” diagnostic tests available for assessing scoliosis in paediatric patients. We have developed a cell-based screening assay for the early diagnosing of presymptomatic subjects and a biochemical blood test for asymptomatic individuals and patients at different disease stage.

Assessment of Breast Asymmetry in Adolescent Idiopathic Scoliosis Using an Automated 3D Body Surface Measurement Technique

STUDY DESIGN Cohort study. OBJECTIVES To assess breast asymmetry (BA) directly with 3D surface imaging and to validate it using MRI values from a cohort of 30 patients with significant adolescent idiopathic scoliosis (AIS). Also, to study the influence of posture (prone vs standing) on BA using the automated method on both modalities. BA is a common concern in young female patients with AIS. In a previous study using MRI, we found that the majority of patients with significant AIS experienced BA of up to 21% in addition to their chest wall deformity. MRI is costly and not always readily available. 3D surface topography, which offers fast and reliable breast acquisitions without radiation or distortion of the body surface, is an alternative method in the clinical setting. METHODS Thirty patients with AIS were enrolled in the study on the basis of their thoracic curvature, skeletal and breast maturity, without regard to their perception of their BA. Each patient underwent two imaging studies of their torso: a 3D trunk surface topography and a breast MRI. An automated breast volume measuring method was proposed using a program developed with Matlab programming. RESULTS Strong correlations were obtained when comparing the proposed method to the MRI on the left breast volumes (LBV) (r = 0.747), the right breast volumes (RBV) (r = 0.805) and the BA (r = 0.614). Using the same method on both imaging modalities also yielded strong correlation coefficients on the LBV (r = 0.896), the RBV (r = 0.939) and the BA (r = 0.709). CONCLUSIONS The proposed 3D body surface automated measurement technique is feasible clinically and correlates very well with breast volumes measured using MRI. Additionally, breast volumes remain comparable despite being measured in different body positions (standing and prone) in a young cohort of AIS patients. LEVEL OF EVIDENCE Level IV.

From melatonin to systemic Gi signalling defect: a hopeful odyssey for adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) is a complex spinal deformity of unknown aetiology and extreme variability, occurring at least in genetically predisposed children. We previously demonstrated a differential dysfunction of melatonin signaling through Gi proteins in osteoblasts from AIS patients, leading to stratification of patients into three functional subgroups. Herein we extended our study to other cell types and various Gi-coupled receptors.

Molecular profiling of Adolescent Idiopathic Scoliosis: toward a comprehensive understanding of ais aetiology

The adolescent idiopathic scoliosis (AIS) is the most common deformity arising during childhood. Although its aetiology remains unknown, we have demonstrated a differential dysfunction of melatonin signalling through Gi proteins in osteoblasts isolated from AIS patients, leading to their stratification into three functional subgroups. Herein we examine the molecular profiles of these AIS groups using the functional classification developed by Moreau et al.

Recent progress in genetics of adolescent idiopathic scoliosis

Scoliosis is a three-dimensional deformity of the spine with lateral curvature combined with vertebral rotation. Occurrence of a melatonin signaling dysfunction in cells derived from patients with adolescent idiopathic scoliosis (AIS) was reported by Moreau et al. It was shown that serine phosphorylation of Gi proteins α-subunits was involved although the source of such aberrant phosphorylation remains unknown. The goal of this research project is to identify the kinase(s) and/or phosphatase(s) involved in the melatonin signaling defect observed in AIS. We have used a candidate gene driven approach and found the Tyrosine Phosphatase x (PTPx) and a second molecule termed HSJ-1, which controls the activity of this tyrosine phosphatase.