Etiology Of Scoliosis Research Articles

«Синдромокомплекс» идиопатического сколиоза

Introduction Multifactoriality in the etiology of idiopathic scoliosis (IS) requires an integrated approach to diagnosis, while the regular examination of patients is limited to radiography, computed tomography without a detailed analysis of the data obtained on the state of the musculoskeletal system. The problem of complex diagnosis of IS is practically not covered by the literature including the syndromic approach to the rationale for the method of treatment and rehabilitation. Purpose of the study To define the concept of "syndromocomplex" of idiopathic scoliosis based on the study of the state of the spine, muscles, proximal femur, bone mineral density (BMD), mineral metabolism and bone metabolism using current diagnostic methods. Materials and methods The state of the spine (300 patients), proximal femur (57 patients), paravertebral (40 patients) and gluteal muscles (60 patients of the main group and 40 of the control group) were studied using the method of multislice computed tomography (MSCT) and magnetic resonance imaging (MRI), densitometry – BMD (40 patients of the main and 40 of control one), mineral metabolism and bone metabolism were studied by biochemical methods in 55 patients with IS. Results and discussion The study of patients with idiopathic scoliosis at different ages and with different grades of deformities in various parts of the musculoskeletal system revealed pronounced disorders in the shape of the vertebrae, including an increase in the frontal diameter, wedge shape with a significant difference in density along the convex and concave sides, structural changes in the vertebrae, manifested in a decrease in density, the presence of rarefaction zones, areas of maximum density at the top of the deformity, malnutrition and fatty degeneration of the paravertebral and gluteal muscles, a decrease in BMD, a decrease in the density of the femoral head, impaired mineral metabolism and bone metabolism. Conclusion Severe disorders in the shape, X-ray morphological changes in the vertebrae, malnutrition and fatty degeneration of the paravertebral and gluteal muscles, concomitant changes in BMD, hip joint, mineral metabolism and bone metabolism, are included in the concept of "syndromocomplex” of idiopathic scoliosis, underlie the tactical concept for diagnosis, treatment and further rehabilitation measures for patients with severe forms of scoliosis.

Low radius of curvature growth-friendly rib-based implants increase the risk of developing clinically significant proximal junctional kyphosis.

Clinically significant proximal junctional kyphosis (PJK) occurs in 20% of children with scoliosis treated with posterior distraction-based growth-friendly surgery. In an effort to identify modifiable risk factors, it has been theorized biomechanically that low radius of curvature (ROC) implants (i.e., more curved rods) may increase post-operative thoracic kyphosis, and thus may pose a higher risk of developing PJK. We sought to test the hypothesis that early onset scoliosis (EOS) patients treated with low ROC distraction-based implants will have a greater risk of developing clinically significant PJK as compared to those treated with high ROC (straighter) implants. We conducted a retrospective review of prospectively collected data obtained from a multi-centre EOS database on children treated with rib-based distraction with a minimum 2-year follow-up. Variables of interest included: implant ROC at index (220mm or 500mm), participant age, pre-operative scoliosis, pre-operative kyphosis, and scoliosis etiology. PJK was defined as clinically significant if revision surgery with a superior extension of the upper instrumented vertebrae was performed. In 148 participants with scoliosis, there was a higher risk of clinically significant PJK with low ROC (more curved) rods (OR: 2.6 (95% CI 1.09-5.99), χ2 (1, n = 148) = 4.8, p = 0.03). Participants had a mean pre-operative age of 5.3years (4.6y 220mm vs 6.2y 500mm, p = 0.002). A logistic regression model was created with age as a confounding variable, but it was determined to be not significant (p = 0.6). Scoliosis etiologies included 52 neuromuscular, 52 congenital, 27 idiopathic, 17 syndromic with no significant differences in PJK risk between etiologies (p = 0.07). Overall, participants had pre-op scoliosis of 69° (67° 220mm vs 72° 500mm, p = 0.2), and kyphosis of 48° (45° 220mm vs 51° 500mm, p = 0.1). The change in thoracic kyphosis pre-operatively to final follow-up (mean 4.0 ± 0.2years) was higher in participants treated with 220mm implants compared to 500mm implants (220mm: 7.5 ± 2.6° vs 500mm: - 4.0 ± 3.0°, p = 0.004). Use of low ROC (more curved) posterior distraction implants is associated with a significantly greater increase in thoracic kyphosis which likely led to a higher risk of developing clinically significant PJK in participants with EOS. Level III - retrospective comparative study.

Особенности течения идиопатического сколиоза у лиц казахского этноса

Idiopathic scoliosis is one of the most common diseases in the structure of orthopedic pathology. This article presents the preliminary results of the authors' study, which is aimed at a comprehensive study of the features of idiopathic scoliosis in individuals of the Kazakh ethnic group.The purpose of the study - to study the main characteristics of the course of idiopathic scoliosis in individuals of the Kazakh ethnic group.Methods. During the study, the following examination methods were used: history taking, examination, questioning and standing spondylography in two projections. When the diagnosis was confirmed, the patients were divided into the main group, in the absence of deformity - into the control group. Biological material was taken from the subjects of the main group for further study.Results. The study involved 400 patients of the Kazakh ethnic group, who were divided into two groups. The average age of patients in the main group is 24.5+-8.2 years. The prevalence by gender in patients with identified deformity showed that female patients (153 patients - 76.5%) are more likely to develop idiopathic scoliosis than male patients (47 patients – 23.5%) are.Conclusions. Now, there is a need for a detailed study of the etiology and prevalence of idiopathic scoliosis. The expected result of the genetic decoding of the collected biomaterial can contribute to the early detection of patients with this pathology, a possible further prediction of the course of the disease.Key words: idiopathic scoliosis, deformity, genetic predisposition.

Impact of the COVID-19 Pandemic on Health-related Quality of Life in Children with Early Onset Scoliosis

Background: Throughout the COVID-19 pandemic, decreases in health-related quality of life (HRQoL) have been observed in adults and children, with isolation, economic disruption, school closures, and health-related anxiety likely contributing. In this study, we evaluated the impact of COVID-19 on self-reported HRQoL of EOS patients and their caregivers using the Early Onset Scoliosis Questionnaire-24 (EOSQ-24).Methods: Patients with EOS and their caregivers enrolled in the Pediatric Spine Study Group (PSSG) registry with EOSQ scores from the year before the COVID-19 pandemic and the first year during COVID-19 were included. Two years of before-COVID-19 baseline EOSQ scores were recorded for each patient. We recorded patient medical demographics, scoliosis etiology, and comorbidities.Results: 618 patients met inclusion criteria (255 male, 363 female). All EOSQ subscores increased significantly from pre-COVID to early-COVID (p < 0.001, p < 0.05, respectively), though the mean difference was well below the proposed EOSQ-24 MCID. There was no evidence of change in Combined HRQoL or impact- and satisfaction-related scores between early-COVID to late-COVID (p > 0.37). When stratified by etiology (40.3% idiopathic, 17.6% syndromic, 17.8% neuromuscular, 23.0% congenital), there was no evidence of decrease in the HRQoL combined score or other subscores in any subgroup between Pre-COVID and during COVID.Conclusions: Overall, there was no evidence of negative impact on HRQoL by the COVID-19 pandemic for children with EOS or their caregivers. In the future, protective factors contributing to the resilience for this population may be explored further.Level of Evidence: IIIKey Concepts•Decreases in health-related quality of life have been observed among adults and children during the COVID-19 pandemic.•The Early Onset Scoliosis Questionnaire allows for health-related quality of life measurement of patients with Early Onset Scoliosis and their caregivers.•Among EOS patients in a national registry who filled out EOSQ-24 questionnaires before and during the COVID-19 pandemic, we found no evidence of decrease in HRQoL between pre-COVID, early COVID, and late COVID timepoints.

24 Scoliosis in children with juvenile idiopathic arthritis: any link?

BackgroundJuvenile idiopathic arthritis (JIA) is an unusual aetiology of scoliosis in childhood. With few data in literature, the associated factors of scoliosis in JIA are still unknown.ObjectivesTo describe the incidence and associated factors of scoliosis in children with JIA.MethodsA cross-sectional study including children with JIA according to the International League of Associations for Rheumatology (ILAR). The recorded data included anthropometric measurements (weight, size, body mass index (BMI), and leg length), disease characteristics (JIA subtypes and duration), and static foot posture disorders. Regarding scoliosis, we collected clinical and radiographic findings.ResultsThirty-five patients, forty-three percent of the patients were boys (n = 15). The mean age was 12.2 ± 3.61 years. The mean disease duration was 4.1 ± 3.29 years. The mean patient global assessment and the mean visual analogic scale were 3.4 ± 3.02 and 3.37 ± 2.92, respectively. The patient's distribution of JIA subtypes was oligoarticular (n = 13), enthesitis-related arthritis (n = 9), polyarticular (n = 4), undifferentiated (n = 4), psoriasis-related JIA (n = 4) and systemic-onset (n = 1). The mean CRP and ESR were 7.51 ± 11.85 mg/l and 18.88 ± 15.53 mm, respectively. The mean JADAS was 7.58 ± 6.3. Seventeen percent of the patients had an inactive disease (n = 6). Seven patients (20%) (6 females) had developed scoliosis during their disease, the spine regions of scoliosis were thoracolumbar scoliosis (n = 6) and thoracic scoliosis (n = 1). There was no specific distribution of scoliosis among JIA subtypes (p = 0.464). Most patients with scoliosis had associated leg length discrepancy (71.43% vs 28.57%, p = 0.025). Static foot posture disorders were present in most patients with scoliosis (85.71% vs 14.29%) but this difference was not significant (p = 0.673) compared with patients with no scoliosis. Weight, size and BMI were not associated with scoliosis (p = 0.955, p = 0.922, p = 0.303 respectively).ConclusionOur study shows that scoliosis is associated with leg length discrepancy. Indeed, the joint inflammation of the lower limb may explain the postural syndrome in children with JIA, with a prompt impact on the axial skeleton.

Effectiveness of Botulinum Neurotoxin in Treatment of Scoliosis among Children and Adolescents: A Systematic Review and Meta-Analysis.

Scoliosis refers to a three-dimensional deviation in the axis of the spine. Muscle imbalance is believed to play a role in scoliosis. Botulinum neurotoxin (BoNT) can reduce muscle overactivity and may have the potential to ameliorate spinal scoliosis. This study investigated the effectiveness of intramuscular BoNT injection in vertebral curve correction and reviewed the possible influencing factors. PubMed, Medline, Cochrane Central Register of Controlled Trials, Web of Science, Airiti Library, and Index of the Taiwan Periodical Literature System databases were searched from inception until 7 September 2022 for eligible studies. The main outcome was the change in Cobb angle after BoNT application. Subgroup analysis was conducted according to differences in study designs, etiology of scoliosis, and methods used for target muscle selection. We enrolled three studies including 31 participants aged between 2 and 18 years. The meta-analysis revealed no significant reduction in the Cobb angle after BoNT injection (standardized mean difference, −0.783, 95% CI, −2.142 to 0.576). Study designs (p = 0.011) and methods used for target muscle selection (p = 0.017) but not etiology of scoliosis (p = 0.997) reached statistical significance between subgroups. In conclusion, the current meta-analysis does not support the application of BoNT in children and adolescents with scoliosis. However, a decisive conclusion could not be made due to high between-study heterogeneity and small sample size. More randomized controlled trials with appropriate target muscle selection and standard outcome measurement should be conducted to examine the efficacy of botulinum neurotoxin in treating scoliosis. INPLASY ID: INPLASY202290031.

Impact of surgical treatment on parent-reported health related quality of life measures in early-onset scoliosis: stable but no improvement at 2years.

The etiology of early-onset scoliosis (EOS) has been shown to significantly influence baseline parent-reported health-related quality of life (HRQoL) measures as assessed by the Early Onset Scoliosis Questionnaire (EOSQ). We sought to assess the influence of distraction-based surgery and scoliosis etiology on EOSQ 2years following surgical intervention remains unclear. A retrospective review of a multi-center prospective EOS database was performed. Children untreated with distraction-based, growth friendly instrumentation for EOS with completed baseline and 2-year post-surgical EOSQ were included. Children were subdivided by curve etiology individually and in combined cohorts (congenital/idiopathic [C/I], neuromuscular/syndromic [NMS]). EOSQ domains and compositive HRQoL score at presentation and 2-year follow-up were compared across C-EOS etiologies. Minimal clinically important difference (MCID) was defined as ≥ 20% change in domain score and compared across etiologies. 150 children with EOS met inclusion criteria (mean 7.09 ± 2.6years, 58.9% female). There were no differences in EOSQ domains between Congenital vs. Idiopathic nor NM vs. Syndromic etiologies at any timepoint. Combined C/I children demonstrated significantly higher EOSQ scores than combined NMS at initial and 2-years post-treatment. Etiology remained the only independent predictor of 2-year EOSQ composite HRQoL score. Overall, the vast majority of children demonstrated stable HRQoL composite scores, with a trend toward more positive MCID in NMS etiologies. EOS etiology remains the most significant influence on EOSQ scores 2years following surgical intervention. However, the majority of patients, regardless of etiology, maintain stable HRQoL scores suggesting that surgery may only serve to stabilize HRQoL at 2years.

Experimental animal models of scoliosis for understanding the etiology of idiopathic scoliosis

Idiopathic scoliosis is a common disease of the musculoskeletal system, affecting 2–3% of children and adolescents worldwide. The etiology and pathogenesis of scoliotic spinal deformity have not yet been disclosed, despite numerous long-term studies. Animal modeling of scoliosis can become the basis for studying possible etiological factors and pathogenetic mechanisms of the formation of the pathology in question and the prospects for possible treatment of scoliosis in the future. To date, many different types of models of scoliotic disease have been created and studied. The purpose of this review was to analyze the literature data on animal modeling of scoliosis in order to understand the etiological factor of idiopathic scoliosis in humans. Material and methods. The review was carried out using databases of electronic information resources PubMed (MEDLINE), Scopus, eLibrary.ru. The analysis of scientific literature was carried out according to the search words: “idiopathic scoliosis”, “experimental model of scoliosis”, “animal model of scoliosis”, “mechanical models of scoliosis”, “pineal gland resection models”, “genetic models of scoliosis”. Results. The analysis of scientific literature data confirms the high importance of experimental animal models of scoliosis for the study of the etiology of idiopathic scoliosis. The review summarizes and analyzes data on the main directions of modeling scoliotic deformity: mechanical, neuroendocrine and genetic models. Conclusions. The models of scoliosis presented in the literature have been implemented with varying degrees of success and have not been able to clarify the etiology of spinal pathology, but they are a useful tool for testing interventions aimed at correcting and preventing deformity. The development of an optimal experimental model of scoliosis in animals will further overcome the existing limitations in determining the etiological factor of idiopathic scoliosis and describe the processes of disease development characteristic of humans.

Physiotherapeutic Scoliosis-Specific Exercise Methodologies Used for Conservative Treatment of Adolescent Idiopathic Scoliosis, and Their Effectiveness: An Extended Literature Review of Current Research and Practice.

Due to the multifactorial etiology of scoliosis, a comprehensive treatment plan is essential for conservative management. Physiotherapeutic scoliosis-specific exercise (PSSE) methods have lately gained popularity for the conservative treatment of scoliosis. The aim of this study was to analyze the PSSE methodologies used for conservative treatment of adolescent idiopathic scoliosis (AIS), as well as their effectiveness. The study was based on an extended literature search conducted in the PubMed, Google Scholar, PEDro, eLABA, and BioMed Central databases. A total of 123 articles were selected for this study (including articles overviewed in systematic reviews and meta-analyses) after applying the inclusion criteria. The study revealed that inappropriate management of AIS could result in serious health problems. Conservative interventions that aid in stabilizing spine curvature and improving esthetics are preferred for scoliosis treatment. Bracing has traditionally been the mainstay of treatment, but growing evidence suggests that PSSE physiotherapy allows effective management of idiopathic adolescent scoliosis. Currently, there are the following PSSE physiotherapy schools in Europe: Schroth, SEAS, BSPTS, FED, FITS, Lyon, Side Shift, and DoboMed. The methodologies of these schools are similar, in that they focus on applying corrective exercises in three planes, developing stability and balance, breathing exercises, and posture awareness. Although high-quality research supporting the effectiveness of PSSE physiotherapy in the treatment of AIS is lacking, existing evidence indicates that PSSE physiotherapy helps to stabilize spinal deformity and improve patients’ quality of life. Among the abovementioned methodologies, Schroth is the most widely studied and has been proven to be effective. However, both SEAS and BSPTS effectively stabilize and even reduce the Cobb angle of scoliosis. Data supporting the validity of other methodologies are very limited. Only the Schroth method significantly reduces the angle of trunk rotation, while both SEAS and Schroth methods greatly improve the quality of life indicators. In any case, the available evidence is insufficient to confirm the advantage of one specific physiotherapy technique over others.

An Evolutionary Adolescent Idiopathic Scoliosis Etiology Spine-Limbs Links, Inspiration and Laterality as Basic Factors

Moving on an evolutionary sight, this article individualizes three basic human causative factors in adolescent idiopathic scoliosis developing inspiration, bipedal locomotion and lateralities. The integrative approach considers the neuromechanical coupling in respiration, introducing the concept of pneumofascial competition (section one) as the loop that occurs between inspired air and pleural fasciae and then global myofascia. Affordances (possibilities) and constraints of respiratory system match positions and movements of whole body, where the links between spine and periphery (limbs and head) play a determinant part: these connections, the one that involves the spinal transverse plane, are worked out in section two. Therefore, section two appears a decisive step in trying to solve some questions about human bipedal locomotion and its proficiency, again in a neuromechanical coupling view, with totally original considerations about the role of scapula and about the spine as a treble torsion spring. Finally, it is possible to trace out a new adolescent idiopathic scoliosis etiology (section three), adding a third factor: laterality. What is only human is the hyper stressed lateralization (s) by means of cultural requirements. The motor hyper specialization is another form of energy saving (automatism). Thus, all the article is about the evolutionary principle of costs minimizing. Adolescent idiopathic scoliosis is here seen as an evolutionary mismatch disease between human nature and human culture and every curve can be explained in an integrative way, where causes and effects develop a mutual self-powering cycle.

Distribution and Frequency of the Variant rs10738445 of BNC2 Gene Associated to Idiopathic Scoliosis in Puerto Rico

Idiopathic Scoliosis is a deformity of the spine, due to the growth of the person, shaped like an “C” or “S”; at a minimum Cobb angle of 10°. Some studies show that Idiopathic Scoliosis may be a condition due to multifactorial effects. However, recent studies have found a susceptibility allele rs10738445 increases the expression of the BNC2 gene especially in homozygous for the haplotype CC. The BNC2 protein is present in the myoblasts and uterus, spinal cord, bone, and cartilage tissue. Thus, suggesting that there is a relationship between the increase in the gene and the etiology of Idiopathic Scoliosis. Other findings suggest a functional role for BNC2 in the development and progression of spinal deformity in patients with Idiopathic Scoliosis. The SNP rs10738445 of the BNC2 gene appeared in the genomic study 1000 Genomes Project, and Puerto Rico showed a genotypic frequency of 0.53 for the haplotype CC. Using rt‐PCR, 622 samples of the general population of Puerto Rico were genotyped for the SNP rs10738445. In this study, we obtained that the genotype CC of rs10738445 has a genotypic frequency of 0.059 in Puerto Rico, with a higher prevalence in the western area. The differences in genotypic frequencies could be the result of the bias in the sampling of the Puerto Ricans that participated in the 1000 Genomes Project. We are planning to genotype patients diagnosed with Idiopathic Scoliosis and other spinal deformities for this variant in Puerto Rico.

Zebrafish and idiopathic scoliosis: the ‘unknown knowns’

The etiology and heterogeneity of idiopathic scoliosis (IS) are poorly understood. Studies using scoliotic zebrafish models have indicated a potential link between ciliary defects and scoliosis. They may further explain the onset of IS partially. However, it is necessary to further interpret the link between this progress and clinical medicine.

Scoliosis Following Chest Wall Resection for Tumor With and Without Prophylactic Fixation: Case Series.

Posterior chest wall resection is a complex surgical procedure that involves removing any anatomical structure that surrounds the lungs and pleura, such as the intercostals, ribs, and soft tissues. The etiology of scoliosis that develops after chest wall excision is likely both mechanical and paralytic in nature. We report seven cases of scoliosis following posterior chest wall resection. Our results suggest that the prophylactic treatment of scoliosis after chest wall resection decreases the risk of scoliosis.

Elongation-Derotation-Flexion Casting Treatment of Early-Onset Progressive Scoliosis in Skeletal Dysplasia.

Early-onset scoliosis in children with skeletal dysplasia is progressive, contributing to cardiopulmonary restrictive disease. Serial elongation-derotation-flexion (EDF) casting, used in other etiologies of scoliosis to delay curve progression, may be beneficial in maximizing spine growth. Our hypothesis is serial EDF casting can be safely used as a temporary alternative to surgery, delaying progression and preserving growth, to treat scoliosis in skeletal dysplasia. All patients with skeletal dysplasia treated at a single institution with serial EDF casting for scoliosis were reviewed retrospectively. Radiographic parameters: Cobb angle of major and minor curves, curve location, thoracic height, thoracolumbar height, space available for lung, and rib vertebra angle difference were measured before casting (C1), in first casting (C2), in last casting (C3), and out of last casting (C4). Peak inspiratory pressure (PIP) values were monitored and recorded during the casting application. Eleven patients met the inclusion criteria (mean 9.7 castings). The mean duration of EDF serial casting was 35 months. The mean major Cobb angles were 54 degrees° (C1), 30 degrees (C2), 37 degrees (C3), and 49 degrees (C4) with no statistically significant differences. The mean minor Cobb angles were 35 degrees (C1), 25 degrees (C2), 33 degrees (C3), and 51 degrees (C4) with no statistically significant differences. The mean thoracic heights were 130 mm (C1), 155 mm (C2), 173 mm (C3), and 160 mm (C4). The 19-mm mean difference between C2 and C3 represents spinal growth. The PIP-1, PIP-2, and PIP-3 mean values were 15, 27, and 18 cmH2O, respectively. Changes in PIP-1 and PIP-2 and PIP-2 and PIP-3 were statistically significant. Serial EDF casting can delay surgical scoliosis correction in children younger than 7 years with a diagnosis of skeletal dysplasia. Our study showed that serial casting controls progression of the major curve and allows longitudinal growth of the spine with possible expansion of lung volume for nearly 3 years. During cast application, PIP increased with molding and traction, and improved until windowing and trimming of the cast. Level IV-retrospective study.

Effectiveness of the FED Method in the Treatment of Idiopathic Scoliosis of Girls Aged 11-15 Years.

(1) Background: The unknown etiology of idiopathic scoliosis and its three-dimensional nature make the cause-and-effect therapeutic management difficult. A tendency to progression of scoliosis and the failure of many methods of conservative treatment have prompted the search for new methods that would stop and correct deformations. One of them is the FED method, used in the conservative treatment of idiopathic scolioses, in which all scoliotic curves are corrected. The aim of this study was a comparative analysis of the effectiveness of idiopathic scoliosis treatment with the FED and FITS methods. (2) Methods: The study included 60 randomly selected girls, aged 11 to 15 years, treated with the FED and FITS methods. They were diagnosed with idiopathic scoliosis grade II according to Cobb and double-curve scoliosis type I and II according to King–Moe classification. The results of the therapy were assessed with the use of the Bunnell scoliometer. The examinations were performed before the start of the therapy—on the first day of the child’s stay—and 3 weeks after the therapy. The angle of trunk rotation and the sum of two rotations were assessed using a scoliometer. (3) Results: The performed statistical analysis demonstrated significant changes in the examined parameters in both therapeutic groups. (4) Conclusions: 1. The obtained results indicate that the FED therapy may prove to be an effective method of treating idiopathic scoliosis; however, it requires further research in a larger group of patients; 2. both methods significantly improved trunk rotation in primary and secondary scoliosis, but after using summing parameters (SDR parameter), the FED method appeared to be statistically more effective.

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.

To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of ‘models’, such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11.2 deletion syndrome (22q11.2DS), with a 20-fold increased risk of developing scoliosis, may be a valuable and more relevant alternative and serve as a human ‘model’ for idiopathic scoliosis. This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to idiopathic scoliosis. Scoliosis patients with 22q11.2DS and spinal radiography (n = 185) or MRI (n = 38) were included (mean age 11.6 ± 4.2; median Cobb angle 16°) and compared to idiopathic scoliosis patients from recent literature. Radiographic analysis revealed that 98.4% of 22q11.2DS patients with scoliosis had a curve morphology following predefined criteria for idiopathic curves: eight or fewer vertebrae, an S-shape and no inclusion of the lowest lumbar vertebrae. Furthermore, curve progression was present in 54.2%, with a mean progression rate of 2.5°/year, similar to reports on idiopathic scoliosis with 49% and 2.2–9.6°/year. The prevalence of intraspinal anomalies on MRI was 10.5% in 22q11.2DS, which is also comparable to 11.4% reported for idiopathic scoliosis. This indicates that 22q11.2DS may be a good model for prospective studies to better understand the etiology of idiopathic scoliosis.

Curve evolution during bracing in children with scoliosis secondary to early-onset neurofibromatosis type 1: indicators of rapid curve progression.

Background:Scoliosis secondary to neurofibromatosis type 1 (NF1) in children aged <10 years is an important etiology of early-onset scoliosis (EOS). This study was performed to investigate the curve evolution of patients with EOS secondary to NF1 undergoing bracing treatment and to analyze high-risk indicators of rapid curve progression.Methods:Children with EOS due to NF1 who underwent bracing treatment from 2010 to 2017 were retrospectively reviewed. The angle velocity (AV) at each visit was calculated, and patients with rapid curve progression (AV of >10°/year) were identified. The age at modulation and the AV before and after modulation were obtained. Patients with (n = 18) and without rapid curve progression (n = 10) were statistically compared.Results:Twenty-eight patients with a mean age of 6.5 ± 1.9 years at the initial visit were reviewed. The mean Cobb angle of the main curve was 41.7° ± 2.4° at the initial visit and increased to 67.1° ± 8.6° during a mean follow-up of 44.1 ± 8.5 months. The overall AV was 6.6° ± 2.4°/year for all patients. At the last follow-up, all patients presented curve progression of >5°, and 20 (71%) patients had progressed by >20°. Rapid curve progression was observed in 18 (64%) patients and was associated with younger age at the initial visit and a higher incidence of modulation change during follow-up (t = 2.868, P = 0.008 and <0.001, respectively). The mean AV was 4.4° ± 1.2°/year before modulation and 11.8° ± 2.7°/year after modulation (t = 11.477, P < 0.010).Conclusions:Curve progression of >10°/year is associated with younger age at the initial visit, and modulation change indicated the occurrence of the rapid curve progression phase.

Visual and Vestibular Impairment and Idiopathic Scoliosis – are They Related?

Abstract Scoliosis is a tri-dimensional lateral curvature of the spine of 10° or more, with a rotational component. The most common form of scoliosis in the population is adolescent idiopathic scoliosis (AIS). As its name states, it has no known direct cause, even if, over time some evidence for multiple linked causes has been provided There is some evidence accumulated pointing to an association between AIS and posture control, where vision and vestibular systems are both involved We analysed the links between the curvature of the spine, its evolution and possible visual and vestibular impairment on 44 children with scoliosis. A postural aetiology of scoliosis in the visually and vestibular impaired population could be implied, since all the cases that could be defined as scoliosis and not as a scoliotic attitude (Cobb &gt; 10º) were positive for the Fukuda Stepping Test and more than 60% of the patients that had a Cobb angle value higher than 15º had a type of visual impairment (myopia).

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait-A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis.

Adolescent Idiopathic Scoliosis (AIS) is a prevalent and important spine disorder in the pediatric age group. An increased family tendency was observed for a long time, but the underlying genetic mechanism was uncertain. In 1999, Dr. Yves Cotrel founded the Cotrel Foundation in the Institut de France, which supported collaboration of international researchers to work together to better understand the etiology of AIS. This new concept of AIS as a complex trait evolved in this setting among researchers who joined the annual Cotrel meetings. It is now over a decade since the first proposal of the complex trait genetic model for AIS. Here, we review in detail the vast information about the genetic and environmental factors in AIS pathogenesis gathered to date. More importantly, new insights into AIS etiology were brought to us through new research data under the perspective of a complex trait. Hopefully, future research directions may lead to better management of AIS, which has a tremendous impact on affected adolescents in terms of both physical growth and psychological development.

Elucidating the inherent features of IS to better understand idiopathic scoliosis etiology and progression

Idiopathic Scoliosis (IS) is a relatively common condition and is estimated to affect as many as 3 % of youth aged 10–17 years (in the United States an estimated approximately 1.4 million otherwise healthy individuals). A clear understanding of the etiology will better direct optimization of evaluation, treatments and therapies, especially early treatments with less invasive methods. A mechanistic explanation of factors combining to initiate and then cause progression of this common condition-- in otherwise healthy pre-teenage and teenage patients--will be discussed.A recent well-designed structured systematic review states that ‘strong evidence is lacking for a consistent pattern of occurrence and any abnormality’, in other words there is no strong evidence for ‘other associated diagnoses’ in IS. And so, certain important inherent factors of IS merit greater discussion. Inherent, or intrinsic factors include: a natural susceptibility to develop a lateral and rotational deformity in the immature rapidly growing erect human spine, inherent torsion associated at the induction of deformity, biomechanics related to curve progression, and anthropology/bipedal gait.We know more today about factors related to the condition and its etiology than we have previously. Across multiple disciplines, a mechanistic approach to understanding the etiopathogenesis of IS, allows a reasonable ‘theory’ for IS etiology and its progression. We will discuss these inherent intrinsic factors in order to further add to our understanding of the theoretical etiopathogenesis. A better understanding of the etiology (and progression) may better direct ways to optimize evaluation, treatments and therapies, especially early treatments with less invasive methods.