[Importance of the accurate diagnosis and treatment of patients with lumbar degenerative scoliosis].

Under the background of aging population, the incidence of degenerative lumbar scoliosis is increasing year by year. How to conduct reasonable clinical diagnosis and treatment has gradually become a hot topic in the field of spinal surgery. This article discusses the key issues in the diagnosis and treatment of degenerative spinal deformities, including symptom differentiation, spinal alignment reconstruction, fusion level selection, and clinical efficacy evaluation. The aim is to further promote the accurate diagnosis and treatment of degenerative spinal deformities.

Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis.

Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known genetic mutation that can definitively determine the diagnosis. As patients may present with a primary spinal concern, a careful clinical and radiographic evaluation can allow the physician to develop a working diagnosis to guide additional evaluation. Spinal manifestations include scoliosis and kyphoscoliosis, cervical instability, cervical kyphosis, thoracolumbar kyphosis, spinal stenosis, and atypical vertebral body morphology. An understanding of the affected conditions, prevalence, and natural history of these radiographic findings aids the orthopaedic surgeon in establishing a diagnosis and guides appropriate orthopaedic care.

Instrumentation failure following pediatric spine deformity growth-sparing surgery using traditional growing rods or vertical expandable prosthetic titanium ribs.

BACKGROUND: Instrumentation failure (IF) is a major complication associated with growth-sparing surgery for pediatric spinal deformities; however, studies focusing on IF following each surgical procedure are lacking. We aimed to evaluate the incidence, timing, and rates of unplanned return to the operating room (UPROR) associated with IF following each surgical procedure in growth-sparing surgeries using traditional growing rods (TGRs) and vertical expandable prosthetic titanium ribs (VEPTRs). METHODS: We reviewed 1,139 surgical procedures documented in a Japanese multicenter database from 2015 to 2017. Of these, 544 TGR and 455 VEPTR procedures were included for evaluation on a per-surgery basis. IF was defined as the occurrence of an implant-related complication requiring revision surgery. RESULTS: The surgery-based incidences of IF requiring revision surgery in the TGR and VEPTR groups were 4.3% and 4.0%, respectively, with no significant intergroup difference. Remarkably, there was a negative correlation between IF incidence per surgical procedure and the number of lengthening surgeries in both groups. In addition, rod breakage in the TGR group and anchor-related complications in the VEPTR group tended to occur relatively early in the treatment course. The surgery-based rates of UPROR due to IF in the TGR and VEPTR groups were 2.0% and 1.5%, respectively, showing no statistically significant difference. CONCLUSIONS: We found that IF, such as anchor related-complications and rod breakage, occurs more frequently earlier in the course of lengthening surgeries. This finding may help in patient counseling and highlights the importance of close postoperative follow-up to detect IF and improve outcomes.

Horizontal gaze palsy with progressive scoliosis.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive condition characterized by absence of abduction and adduction movements with intact vertical eye movements and progressive scoliosis. Patients usually present by mid-childhood with complaints of progressive scoliosis. The clinical diagnosis of HGPPS can be further confirmed by the ROBO3 gene mutation on chromosome number 11. We present 2 Indian siblings who were incidentally diagnosed with HGPPS with synergistic convergence on regular eye examination; diagnosis was confirmed by radiological and genetic testing.

Diagnostic utility of different types of somatosensory evoked potential changes in pediatric idiopathic scoliosis correction surgery.

PURPOSE: To evaluate the diagnostic accuracy of intraoperative somatosensory evoked potential (SSEP) monitoring and types of SSEP changes in predicting the risk of postoperative neurological outcomes during correction surgery for idiopathic scoliosis (IS) in the pediatric age group (≤ 21 years). METHODS: Database review was performed to identify literature on pediatric patients with IS who underwent correction with intraoperative neuromonitoring. The sensitivity, specificity, and diagnostic odds ratio (DOR) of transient and persistent SSEP changes and complete SSEP loss in predicting postoperative neurological deficits were calculated. RESULTS: Final analysis included 3778 patients. SSEP changes had a sensitivity of 72.9%, specificity of 96.8%, and DOR of 102.3, while SSEP loss had a sensitivity of 41.8%, specificity of 99.3%, and DOR of 133.2 for predicting new neurologic deficits. Transient and persistent SSEP changes had specificities of 96.8% and 99.1%, and DORs of 16.6 and 59, respectively. CONCLUSION: Intraoperative SSEP monitoring can predict perioperative neurological injury and improve surgical outcomes in pediatric scoliosis fusion surgery. LEVEL OF EVIDENCE: Level 2. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Development of patient-reported outcome for adult spinal deformity: validation study.

Adult spinal deformity (ASD) is a complex condition that combines scoliosis, kyphosis, pain, and postoperative range of motion limitation. The lack of a scale that can successfully capture this complex condition is a clinical challenge. We aimed to develop a disease-specific scale for ASD. The study included 106 patients (mean age; 68 years, 89 women) with ASD. We selected 29 questions that could be useful in assessing ASD and asked the patients to answer them. The factor analysis found two factors: the main symptom and the collateral symptom. The main symptom consisted of 10 questions and assessed activity of daily living (ADL), pain, and appearance. The collateral symptom consisted of five questions to assess ADL due to range of motion limitation. Cronbach's alpha was 0.90 and 0.84, respectively. The Spearman's correlation coefficient between the change of main symptom and satisfaction was 0.48 (p < 0.001). The effect size of Cohen's d for comparison between preoperative and postoperative scores was 1.09 in the main symptom and 0.65 in the collateral symptom. In conclusion, we have developed a validated disease-specific scale for ASD that can simultaneously evaluate the benefits and limitations of ASD surgery with enough responsiveness in clinical practice.

Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity, affecting millions of adolescents worldwide, but it lacks a defined theory of etiopathogenesis. Because of this, treatment of AIS is limited to bracing and/or invasive surgery after onset. Preonset diagnosis or preventive treatment remains unavailable. Here, we performed a genetic analysis of a large multicenter AIS cohort and identified disease-causing and predisposing variants of SLC6A9 in multigeneration families, trios, and sporadic patients. Variants of SLC6A9, which encodes glycine transporter 1 (GLYT1), reduced glycine-uptake activity in cells, leading to increased extracellular glycine levels and aberrant glycinergic neurotransmission. Slc6a9 mutant zebrafish exhibited discoordination of spinal neural activities and pronounced lateral spinal curvature, a phenotype resembling human patients. The penetrance and severity of curvature were sensitive to the dosage of functional glyt1. Administration of a glycine receptor antagonist or a clinically used glycine neutralizer (sodium benzoate) partially rescued the phenotype. Our results indicate a neuropathic origin for "idiopathic" scoliosis, involving the dysfunction of synaptic neurotransmission and central pattern generators (CPGs), potentially a common cause of AIS. Our work further suggests avenues for early diagnosis and intervention of AIS in preadolescents.

Assessment of idiopathic scoliosis among adolescents and associated factors in Palestine.

PURPOSE: This study aimed to investigate adolescent idiopathic scoliosis (AIS) and its related risk factors, including body mass index (BMI), physical activity (PA), gender, time of the first menstrual cycle, transportation, backpack weight and the way of carrying a backpack. DESIGN AND METHOD: a cross-sectional quantitative design was utilized. A convenient sample of adolescent students in grades seven through ten was included in the study. A self-reported questionnaire with three sections: demographic data; physical data including height, weight and PA; and Adam's forward bend test to determine each student's spine's Cobb angle by measuring the angle of trunk rotation using a scoliometer. The data were analyzed using SPSS version 25, with confidence intervals of 95%. RESULTS: A total of 820 schoolchildren participated in the study; 53.7% were female and 46.3% were male. Only 22% of these students engaged in vigorous exercise, compared to 36.7% who engaged in low PA; additionally, 10% of the adolescents had a low BMI. After the analysis, it was found that 5.4% of participants had AIS. Low PA (p = 0.001), being underweight (p = 0.038), and time of first menstrual period (p = 0.033) were significantly associated with AIS, while gender, backpack weight, and way of carrying were not statistically related to AIS. Binary logistic regression identified low PA as an independent predictor of AIS (OR = 7.22, 95%CI [1.64, 31.79]). CONCLUSIONS: The frequency of AIS in Palestine was significant, which highlighted the importance of this issue at a national and global level. There was an association between AIS and BMI, PA, and the time of the first menstrual cycle, which signifies the importance of early detection of the problem to limit its burden later in life. PRACTICE IMPLICATIONS: Teachers, teenagers, and their parents should be provided with programs that educate and clarify AIS, and a specific protocol should be established for scoliosis screening in schools.

From PHQ-2 to SRS-22: how a depression screening tool relates to SRS scores in patients with adolescent idiopathic scoliosis.

PURPOSE: The aim of our study was to determine the relationship between Patient Health Questionnaire (PHQ) scores-a simple, validated depression screening tool-and Scoliosis Research Society (SRS)-22 questionnaire scores in patients with idiopathic scoliosis (IS). METHODS: IS patients screened for depression with the PHQ-2 who completed the SRS-22 over a 2-year period were reviewed. If PHQ-2 scores were positive (> 3), the more comprehensive PHQ-9 was administered. Median SRS-22 scores between positive and negative PHQ screens were compared. Nonparametric correlation between PHQ and SRS-22 Mental Health (MH) domain was performed. The ability of the MH domain to discriminate between patients with positive versus negative screens and patients with moderate-severe depression risk versus no-mild risk was evaluated with ROC analysis. RESULTS: 521 patients were included. Patients with + PHQ-2 screens had significantly lower total and individual domain SRS scores, especially within the MH domain (4.0 vs. 3.2). For those with moderate-severe depression risk, total and individual domain scores were also significantly lower (MH domain, 4.0 vs. 3.0, p < 0.05). A weak, but significant correlation was observed between the PHQ and MH domain scores (rho = 0.32, p < 0.001). A cut-off of ≥ 3.6 on the MH domain demonstrated sensitivity of 0.75 and specificity of 0.86 for identifying patients at no-mild risk for depression. CONCLUSION: Recognizing mental health conditions is critical to successful IS treatment as psychosocial conditions can negatively affect treatment outcomes. IS patients scoring < 3.6 on the SRS-22 MH domain should be considered for depression screening due to an increased risk of moderate-severe depression.

The Dutch version of the Spinal Appearance Questionnaire for adolescents with idiopathic scoliosis: patient-based cross-cultural adaptation and measurement properties evaluation.

PURPOSE: Adolescent idiopathic scoliosis (AIS) affects the appearance of spine and trunk. The Spinal Appearance Questionnaire (SAQ) assesses the perception of appearance in AIS patients. The aim of this study is to translate and culturally adapt the recommended short version of the SAQ into Dutch and to test its measurement properties. METHODS: A Dutch SAQ (14-item; appearance and expectations domains) was developed following guidelines for translation and cross-cultural adaptation. The COSMIN Study Design checklist was used for measurement properties evaluation. In this multicenter study, the Dutch SAQ, SRS-22R and NPRS (back pain) were administered to 113 AIS patients (aged 15.4 years [SD 2.2], 21.2% male). Floor and ceiling effects were evaluated for content analysis. For reliability, internal consistency (Cronbach's alpha) and test-retest reliability (ICC; n = 34) were evaluated. Predefined hypotheses of relationships with other questionnaires and between subgroups based on scoliosis severity (radiological and clinical) were tested for construct validity. Exploratory factor analysis (EFA) was performed to investigate the validity of the underlying structure of this 14-item questionnaire. RESULTS: No floor and ceiling effects were found for domains and total scores. Cronbach's alpha ranged from 0.84 to 0.89. ICCs varied from 0.76 to 0.77. For construct validity, 89% (8/9) of the predefined hypotheses were confirmed. Significant higher scores for the appearance domain were found for subgroups based on radiological (Cobb angle; > 25.0°) and clinical outcomes. (Angle of Trunk Rotation; > 9.0°). A two-factor structure was found (EV 5.13; 36.63% explained variance). CONCLUSION: The Dutch SAQ is an adequate, valid and reliable instrument to evaluate patients' perception of appearance in AIS. LEVEL OF EVIDENCE: Level I-diagnostic studies.

[Growth-preserving instrumentation for early onset scoliosis]. / Mitwachsende Korrektursysteme bei Early-Onset-Skoliosen.

OBJECTIVE: Early onset scoliosis is defined as a spinal deformity originating in the first 10 years of life. Growth-preserving spinal instrumentation has therefore been designed to preserve growth of spine and chest wall and lungs to avoid serious pulmonary complications after early spine fusion. Indications, surgical technique and results of the vertical expandable prosthetic titanium rib (VEPTR) technique, traditional growing rods (TGR), and magnetically controlled growing rods (MCGR) will be described. INDICATIONS: Indications for VEPTR are so-called mixed congenital deformities (type 3) associated with vertebral malformations in association with chest wall deformities, especially fused ribs. There are also indications for neuromuscular or syndromic early onset scoliosis with bilateral rib-to-ilium constructs. However, most of those deformities are currently treated with either GR or MCGR in most centers. GR and MCGR are currently the treatment of choice for the majority of early onset scoliosis. CONTRAINDICATIONS: There is no indication for growth-preserving strategies if the patients are mature or there is only little growth remaining. In these cases, final fusion should be performed. SURGICAL TECHNIQUE: While the VEPTR technique involves an extensive approach with muscular dissections to the thoracic cage including rib osteotomies and thoracotomies, treatment with TGR or MCGR is minimally invasive, only exposing proximal and distal anchor points, leaving most of the spine including the apex undisturbed. POSTOPERATIVE MANAGEMENT: Early mobilization is usually possible after 24-48 h. Braces may have to be prescribed for patients with osteopenia, noncompliance, or a risk to fall. RESULTS: Since 2005, more than 200 patients were treated with the VEPTR technique, more than 200 patients with the MCGR technique, and about 30 patients with the TGR technique in our department. Complication rates are high with all techniques including the law of diminishing returns, autofusion, bone anchor-related complications like loosening or migration of implants, failure to distract and proximal junctional kyphosis. In our own series of 13 patients below age 3 years, VEPTR proved to be effective for mixed deformities. In other studies, we were able to show that physiological growth with MCGR can be maintained for 2-3 years but spinal growth declines after that period with acceptable complications. Complication rates in most studies are lower with MCGR compared to TGR and VEPTR. Therefore, it is currently the treatment of choice for most early onset scoliosis patients.

Applying Machine Learning and Point-Set Registration to Automatically Measure the Severity of Spinal Curvature on Radiographs.

OBJECTIVE: Measuring the severity of the lateral spinal curvature, or Cobb angle, is critical for monitoring and making treatment decisions for children with adolescent idiopathic scoliosis (AIS). However, manual measurement is time-consuming and subject to human error. Therefore, clinicians seek an automated measurement method to streamline workflow and improve accuracy. This paper reports on a novel machine learning algorithm of cascaded convolutional neural networks (CNN) to measure the Cobb angle on spinal radiographs automatically. METHODS: The developed method consisted of spinal column segmentation using a CNN, vertebra localization and segmentation using iterative vertebra body location coupled with another CNN, point-set registration to correct vertebra segmentations, and Cobb angle measurement using the final segmentations. Measurement performance was evaluated with the circular mean absolute error (CMAE) and percentage within clinical acceptance ([Formula: see text]) between automatic and manual measurements. Analysis was separated by curve severity to identify any potential systematic biases using independent samples Student's t-tests. RESULTS: The method detected 346 of the 352 manually measured Cobb angles (98%), with a CMAE of 2.8° and 91% of measurements within the 5° clinical acceptance. No statistically significant differences were found between the CMAEs of mild ([Formula: see text]), moderate (25°-45°), and severe ([Formula: see text]) groups. The average measurement time per radiograph was 17.7±10.2s, improving upon the estimated average of 30s it takes an experienced rater to measure. Additionally, the algorithm outputs segmentations with the measurement, allowing clinicians to interpret measurement results. DISCUSSION/CONCLUSION: The developed method measured Cobb angles on radiographs automatically with high accuracy, quick measurement time, and interpretability, suggesting clinical feasibility.

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a formal pathological diagnosis. However, WES may identify variants of uncertain significance (VUS) that may add further ambiguity to the diagnosis. We report the case of a 4-year-old boy with horizontal gaze palsy, progressive scoliosis, microcephaly, and mild developmental delay. WES identified an intronic VUS in ROBO3 gene. We performed minigene splicing functional analysis to confirm the pathogenicity of this VUS. This report illustrates that WES data analysis with supportive functional analysis provides an effective approach to improve the diagnostic yield for unsolved clinical cases. This case also highlights the phenotypic heterogeneity in patients with HGPPS.

Mean platelet volume and neutrophil/lymphocyte ratio in adolescent idiopathic scoliosis: can they be predictive value in diagnosis?

In our study, we evaluated whether mean platelet volume (MPV) and neutrophil lymphocyte ratio (NLR) are predictive values in the diagnosis of Adolescent Idiopathic Scoliosis in patients diagnosed with scoliosis in our clinic. Approximately 15000 patients who applied to our spine outpatient clinic with the suspicion of scoliosis between 2011 and 2018 were reviewed retrospectively. 292 patients were included in the study. The patients were divided into 3 groups. Group 1; control group group 2; group with the possibility of developing scoliosis under follow-upand group 3; the patient group diagnosed with scoliosis. Spinal curvature degrees of the patients were measured using the Cobb method. The MPV and NLR values of the patients were compared with the degree of curvature measured by the cobb method. NLR was 2.17 ± 2.10 K/ul in Group 1, 2.42 ± 1.76 K/ul in Group 2, and 2.72 ± 3.91 K/ul in Group 3. Although the NLR of the 3rd group was higher than the other 2 groups, it was not statistically significant. (p > 0.05). MPV was 7.90 ± 1.07 fL in Group 1, 7.95 ±1.39 fL in Group 2, 8.33 ± 1.37 fL in Group 3.MPV was higher in Group 3 and was found to be statistically significant (p=0.024). After adjusting for the effects of gender and age variables on the groups, the difference in MPV between groups became more significant (p=0.017) . While there was no statistically significant difference between the groups in terms of NLR, it was observed that MPV was statistically significantly higher in patients with AIS.Could this relationship be a promising inflammatory marker for AIS? We think that this question should be answered by studies involving larger patient and control groups.

Translation, cross-cultural adaptation and validation of the Rett syndrome motor evaluation scale (RESMES): Spanish version.

OBJECTIVE: To develop a Spanish version of the Rett Syndrome Motor Evaluation Scale (RESMES) for the locomotor function of Rett Syndrome (RTT) using a transcultural methodology. METHODS: The RESMES was cross-culturally adaptated and validated in the Spanish language (RESMES-sp). This study was divided into two well-differentiated phases: 1) a cross-cultural translation and adaptation; 2) psychometric characteristics analysis of the RESMES-sp (reliability, test-retest, construct validity, criteria validity, error measurements). For criteria validity, PAINAD questionnaire, the scoliosis values and PedsQL™, were used. RESULTS: A total of 63 girls and women diagnosed with RTT participated in this validation study. The total value of the RESMES-sp correlates significantly with all its dimensions, with the correlation value oscillating between 0.645 and 0.939. The correlation value with PAINAD ranges between 0.439 and 0.805; the scoliosis values ranges between 0.245 and 0.564; with PedsQOL™ questionnaire, the correlation values range between 0.273 and 0.663 for the PedsQL™ dimensions, and between 0.447 and 0.648 for the total value of PedsQOL™ questionnaire. The reliability values of Crombach's alpha ranged between 0.897 and 0.998 for the intra-observer analyses and between 0.904 and 0.998 for the inter-observer reliability. The SEM showed a value of 2,829, while the MDC90 showed a value of 6601. The Exploratory Factor Analysis showed 6 factors and values of variance of 86.163%. CONCLUSIONS: The Spanish version of the RESMES is a reliable and valid tool for the functional assessment and follow-up of patients with RTT.

[Early-onset scoliosis: pathophysiology, diagnosis and treatment]. / Escoliosis de inicio temprano: fisiopatología, diagnóstico y tratamiento.

Early-onset scoliosis corresponds to a group of heterogeneous spinal conditions that present before 10 years of age with a curvature in the coronal plane of 10° or more. Regardless of the etiology, adequate control of the deformity is required to avoid cardiopulmonary deterioration and preserve quality and life expectancy. Diagnosis can be difficult and is usually incidental at a young age. To choose the best treatment, it is important to consider the patient's age, etiology, and rate of progression. Among the non-operative treatments, the most effective are the use of serial casts or brace, whose main objective is to stop the progression of the deformity and thus delay surgical treatment. Among the surgical treatments the distraction based systems and definitive arthrodesis have proven to be most effective. Early surgery leads to multiple complications, which is why, if feasible, non surgical management should be sought and fusion postponed till skeletal maturity. Due to the life-threatening risks associated with the deformity and treatment, it is important to educate the patient and family members about the importance of treatment adherence and follow-up.

La escoliosis de inicio temprano corresponde a un grupo heterogéneo de padecimientos de la columna, la cual se presenta antes de los 10 años de edad con una curvatura en el plano coronal de 10° o más. Independientemente de la etiología requiere un adecuado control de la deformidad para evitar deterioro cardiopulmonar, disminución en la calidad y expectativa de vida. El diagnóstico puede ser difícil y habitualmente se da de forma incidental. Para el tratamiento, es importante considerar la edad del paciente, la etiología y la velocidad de progresión. Dentro de los tratamientos conservadores, se encuentra el uso de yesos seriados o el corsé, cuyo objetivo principal es detener la progresión de la deformidad y con ello retrasar la cirugía a una edad mayor. Dentro de los tratamientos quirúrgicos se encuentran el uso de barras de crecimiento tradicionales, las barras de crecimiento magnéticas y la artrodesis definitiva. Se ha observado que realizarlos de forma temprana condiciona múltiples complicaciones por lo cual, de ser posible, debe optarse por el manejo no quirúrgico y postergar el tratamiento definitivo. Debido a los riesgos potencialmente mortales que conlleva la deformidad y el tratamiento, es de importancia educar al paciente y sus familiares sobre la importancia del apego y el seguimiento.