PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.

In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapid identification of causative genes. Since the interpretations of ES data require comprehensive clinical analyses, taking clinical expertise into consideration can speed the molecular diagnoses of Mendelian disorders. To leverage clinical expertise to prioritize candidate genes, we developed PhenoApt, a phenotype-driven gene prioritization tool that allows users to assign a customized weight to each phenotype, via a machine-learning algorithm. Using the ability to rank causative genes in top-10 lists as an evaluation metric, baseline analysis demonstrated that PhenoApt outperformed previous phenotype-driven gene prioritization tools by a relative increase of 22.7%-140.0% in three independent, real-world, multi-center cohorts (cohort 1, n = 185; cohort 2, n = 784; and cohort 3, n = 208). Additional trials showed that, by adding weights to clinical indications, which should be explained by the causative gene, PhenoApt performance was improved by a relative increase of 37.3% in cohort 2 (n = 471) and 21.4% in cohort 3 (n = 208). Moreover, PhenoApt could assign an intrinsic weight to each phenotype based on the likelihood of its being a Mendelian trait using term frequency-inverse document frequency techniques. When clinical indications were assigned with intrinsic weights, PhenoApt performance was improved by a relative increase of 23.7% in cohort 2 and 15.5% in cohort 3. For the integration of PhenoApt into clinical practice, we developed a user-friendly website and a command-line tool.

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 .

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.

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.

[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.

A targeted antibody-based array reveals a serum protein signature as biomarker for adolescent idiopathic scoliosis patients.

BACKGROUND: Evident adolescent idiopathic scoliosis (AIS) incurs high treatment costs, low quality of life, and many complications. Early screening of AIS is essential to avoid progressing to an evident stage. However, there is no valid serum biomarker for AIS for early screening. METHODS: Antibody-based array is a large-scale study of proteins, which is expected to reveal a serum protein signature as biomarker for AIS. There are two segments of the research, including biomarkers screening and validation. In the biomarkers screening group, a total of 16 volunteers participated in this study, and we carried out differentially expressed proteins screening via protein array assay between No-AIS group and the AIS group, through which GeneSet enrichment analysis was performed. In the validation group with a total of 62 volunteers, the differentially expressed proteins from screening group were verified by Enzyme-Linked immunosorbent assay (ELISA), and then multiple regression analysis. RESULTS: In our study, there were twenty-nine differentially expressed proteins in AIS, through Protein array assay and GeneSet enrichment analysis in the biomarkers screening group. Then the expression of FAP, CD23 and B2M decreased as the degree of AIS increased via ELISA in validation group (FAP, p < 0.0001; CD23, p = 0.0002; B2M, p < 0.0001). Further, the results of multiple regression analysis showed that FAP, CD23 are linked to Cobb angle, whereas B2M were excluded because of multicollinearity. CONCLUSIONS: Altogether, we found that serum protein FAP and CD23 are intimately related to AIS, suggesting FAP and CD23 are expected to serve as the serum biomarkers, which significantly facilitate frequent longitudinal monitoring as to keep track of disease progression and tailor treatment accordingly.

Associations Between Physical Activity and Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-analysis.

OBJECTIVE: To investigate the associations between adolescent idiopathic scoliosis (AIS) and physical activity (PA). DATA SOURCES: MEDLINE, EMBASE, AMED, SPORTDiscus, Cochrane Library, and CINAHL electronic databases were searched from inception to August 2022/plus citation tracking. STUDY SELECTION: Observational studies of participants with radiographically confirmed AIS with ≥10° lateral spinal curvature (Cobb method) and comparator groups without AIS that measured PA were selected by 2 reviewers. DATA EXTRACTION: Data were extracted independently and cross-checked by 2 reviewers. Risk of bias was evaluated using Newcastle Ottawa Scales and overall confidence in the evidence using the GRADE approach. DATA SYNTHESIS: Sixteen studies with 9627 participants (9162, 95% women) were included. A history of vigorous PA significantly reduced the odds of being newly diagnosed with AIS by 24% (odds ratio [OR] 0.76, 95% confidence interval [CI] 0.65-0.89) (high certainty). Moderate PA reduced odds by 13% (moderate certainty) and light PA increased odds by 9% (low certainty), but neither analysis was statistically significant. Ballet or gymnastics (OR 1.47, 95% CI 3.08 (1.90, 5.00) were the only individual sports significantly associated with AIS diagnosis (moderate certainty). Case-control studies of people with and without AIS provided greater evidence that having AIS reduces vigorous PA and sports participation, and less evidence light PA and walking are affected. CONCLUSION: Adolescents who participate in more vigorous PA are less likely to be diagnosed with AIS. Ballet and gymnastics are associated with AIS diagnosis, but the direction of this association is uncertain. People with AIS are likely to do less vigorous physical and sporting activity compared with those without AIS, which could negatively affect health and quality of life. Further research is warranted into the inter-relations between PA and AIS, studies need to be of sufficient size, include men, and evaluate vigorous including higher-impact PA compared with moderate or light PA.

Intraoperative neurophysiological monitoring in scoliosis surgery: literature review of the last 10 years.

INTRODUCTION: Patients with spinal deformities undergoing corrective surgery are at risk for iatrogenic spinal cord injury (SCI) and subsequent neurological deficit. Intraoperative neurophysiological monitoring (IONM) allows early detection of SCI which enables early intervention resulting in a better prognosis. The primary aim of this literature review was to search if there are threshold values of TcMEP and SSEP in the literature that are widely accepted as alert during IONM. The secondary aim was to update knowledge concerning IONM during scoliosis surgery. METHOD: PubMed/MEDLINE and Cochrane library electronic databases were used to search publication from 2012 to 2022. The following keywords were used: evoked potential, scoliosis, surgery, intraoperative monitoring and neurophysiological. We included all studies dealing with SSEP and TcMEP monitoring during scoliosis surgery. Two authors reviewed all titles and abstracts to identify studies that met the inclusion criteria. RESULTS: We included 43 papers. Rates of IONM alert and neurological deficit varied from 0.56 to 64% and from 0.15 to 8.3%, respectively. Threshold values varied from a loss of 50 to 90% for TcMEP amplitude, whereas it seems that a loss of 50% in amplitude and/or an increase of 10% of latency is widely accepted for SSEP. Causes of IONM changes most frequently reported were surgical maneuver. CONCLUSION: Concerning SSEP, a loss of 50% in amplitude and/or an increase of 10% of latency is widely accepted as an alert. For TcMEP, it seems that the use of highest threshold values can avoid unnecessary surgical procedure for the patient without increasing risk of neurological deficit.

Impact of mental health components on the development of back pain in young adults with adolescent idiopathic scoliosis.

BACKGROUND: Back pain occurs commonly in adults and is multifactorial in nature. This study aimed to assess the prevalence and intensity of back pain during young adulthood in subjects with adolescent idiopathic scoliosis (AIS), as well as factors that may be associated with its prognosis. METHODS: Subjects with AIS aged 20-39 treated conservatively were included in this study. Patient-reported outcome measures in adulthood involved episodes of back pain, and scales of self-image, depression, anxiety, and stress. Additionally, pain, self-image, and mental health scores were retrieved at the first clinic consultation. Occurrence of back pain was defined as a numeric pain rating scale ≥ 6. RESULTS: 101 participants were enrolled. The prevalence of back pain in the lifetime, past 12 months, past 6 months, past 1 month, past 7 days, and past 24 h were 37%, 35%, 31%, 27%, 23%, and 20%, respectively. Male, self-image, and depression were significant associated factors for the development of back pain at all time points. Furthermore, the analyses of the initial presentation of participants have shown that participants with back pain in adulthood were characterised by poor self-image and mental health during their adolescence. CONCLUSION: The present study addressed the natural history of back pain in young adults with conservatively treated AIS. Psychological makeup has been shown to constitute the development of back pain and is strongly hinted as an early sign of having back pain in adulthood among subjects with AIS.

Greek Adaptation and Validation of the Bad Sobernheim Stress Questionnaire-Brace and the Bad Sobernheim Stress Questionnaire-Deformity.

Adolescent idiopathic scoliosis (AIS) is a progressive condition responsible for spinal deformity in all three planes. Spinal deformity and how the rib hump affects the aesthetics, and the functionality of the trunk can be a cause of psychological distress as well. Bracing as a treatment can have a negative impact on QoL, cause pain, affect participation levels in physical activities, and cause isolation and depression. Brace-induced stress may affect the patient's compliance with the treatment which may lead to scoliosis progression. The purpose of this study was to adapt and validate in the Greek language two instruments that can evaluate stress levels induced by bracing treatment and by deformity. The process of cross-cultural adaptation and validation of the Bad Sobernheim Stress Questionnaire-Brace (ΒSSQ-Brace) and the Bad Sobernheim Stress Questionnaire-Deformity (BSSQ-Deformity) followed the International Quality of Life Assessment Project (IQOLA) guidelines. Forty-seven AIS patients with a mean age of 14.4 ± 1.51 years, mean Cobb angle of 30.08 ± 9.25, and mean duration of the bracing treatment at 20.5 ± 12.2 months participated. The mean score for GR-BSSQ Brace was 14.04 ± 6.42, which is interpreted as medium stress, whereas the mean score for GR-BSSQ Deformity was 20.34 ± 3.78, which is interpreted as low stress. GR-BSSQ Brace demonstrated good internal consistency with Cronbach's α = 0.87. GR-BSSQ Deformity demonstrated acceptable internal consistency with Cronbach's α = 0.73. Both GR-BSSQ Brace and GR-BSSQ Deformity exhibited excellent test-retest reliability with ICC values of 0.94 (95% CI 0.89-0.97) and 0.92 (95% CI 0.86-0.95), respectively. BSSQ Brace and BSSQ Deformity questionnaires have been cross-culturally adapted into the Greek language and have been proven to be valid and reliable instruments measuring brace and deformity-induced stress. Both questionnaires can be used for clinical and research purposes in Greek-speaking population.

Association between lean mass and adolescent idiopathic scoliosis: a meta-analysis.

OBJECTIVE: The objective of this meta-analysis was to evaluate the association between lean mass and adolescent idiopathic scoliosis (AIS). METHODS: English databases CENTRAL (The Cochrane Library and the Cochrane Back Review Group Trials Register), MEDLINE, EMBASE, PubMed, Web of Science and Chinese databases CBM, CNKI, VIP, WANGFANG DATA were searched for the relevant case control studies and cross-sectional studies. Two authors selected studies and extracted data independently. Data analysis was performed by Stata15.0. RESULTS: Eight studies were included, with a total of 1771 cases of AIS and 6340 controls. AIS group had a lower lean mass compared to control group [MD = - 1.95, 95% CI (- 2.96, - 0.93)]. In the subgroup analysis, female AIS patients had a lower lean mass than the control group [MD = - 1.76, 95% CI (- 2.63, - 0.88)]. The mean difference of lean mass between AIS patients and control group in studies with adults [MD = - 3.96, 95% CI (- 7.26, - 0.67)] is much greater than studies without adults [MD = - 1.04, 95% CI (- 1.59, - 0.49)]. There was not statistically significant in European studies [MD = - 2.10, 95% CI (- 4.35, 0.14)], but in Asian studies lean mass in AIS patients was lower than the control group [MD = - 2.26, 95% CI (- 3.98, - 0.54)]. Study type, gender, age, and geography condition were thought to have no effect on the primary outcome of lean mass by subgroup analysis. CONCLUSION: In the meta-analysis, AIS group had a lower lean mass compared to control group, which indicated that lean mass may be involved in the pathogenesis of AIS. But limited by the number of studies we included; the above conclusions need to be validated by more high-quality studies.

Measurement properties of the Spinal Appearance Questionnaire in adolescents with idiopathic scoliosis: a systematic review.

BACKGROUND: Scoliosis is defined as a three-dimensional deformity of the spine characterized by lateral tilt and axial rotation of the vertebrae. Its magnitude in the frontal plane is identified by a Cobb angle greater than 10o. The aim of the study was to systematically examine the clinimetric properties of the Spinal Appearance Questionnaire (SAQ) in its cross-cultural adaptations in different languages. METHODS: Medline (PubMed), CINAHL, EMBASE, Science Direct, PsycINFO and WorldWideScience.org databases were used for screening studies until July 16, 2022. In this study, records on the development, evaluation and translation of the SAQ instrument in adolescents with idiopathic scoliosis were included. In addition, two independent reviewers defined whether the studies were eligible and analyzed their psychometric properties of internal consistency, reliability, content validity, cross-cultural validity, construct validity and structural validity, according to the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN). The modified GRADE was applied for evidence synthesis. RESULTS: A total of 95 articles were selected by title and abstract. After removing duplicates and reading and searching the references, a total of 13 studies were included in this review. The original version of the SAQ was described in English, and the instrument was translated into Polish, Canadian French, Simplified Chinese, Spanish (Europe), Danish, Traditional Chinese, Portuguese (Brazil), Korean, German, Turkish and Persian. The evidence was moderate for construct validity, low for internal consistency, and very low for reliability and cross-cultural validity; the content and structural validity properties did not present minimum data for classification. CONCLUSION: The quality of the evidence regarding the clinimetric properties of the SAQ instrument in adolescents with idiopathic scoliosis was low due to the absence of clinimetric properties or dubious methodological quality. However, for clinical practice and research, we recommend the use of the instrument to assess the self-perception of the spine in adolescents. For future translations and adaptations, we recommend the use of the COSMIN guidelines.

Decrease of Muscle Mass in Young Patients With Neuromuscular Disease: Assessment of Sarcopenia.

BACKGROUND: Sarcopenia can be associated with the disease etiologies other than degenerative processes, such as neurologic disease including cerebral palsy, myelomeningocele, or Duchenne muscular dystrophy, even in children. Although the relationship between neurologic disease and scoliosis or ambulatory function is known, the mediators affecting scoliosis or gait function in these patients are unclear, an example might be sarcopenia. This study aimed to assess the degree of sarcopenia in young patients with neurologic diseases using computed tomography (CT), and analyze the correlation between sarcopenia and scoliosis or ambulatory function. METHODS: Pediatric and young adult patients (≤ 25 years old) who underwent whole-spine or lower-extremity CT were retrospectively included. From bilateral psoas muscle areas (PMAs) at the L3 level, the psoas muscle z-score (PMz) and psoas muscle index [PMI = PMA/(L3 height)²] were calculated. The t-test, Fisher's exact test, and logistic regression analyses were performed. RESULTS: A total of 121 patients (56 men, mean age 12.2 ± 3.7 years) were included with 79 neurologic and 42 non-neurologic diseases. Patients with neurologic diseases had lower PMz (P = 0.013) and PMI (P = 0.026) than patients without. In neurologic disease patients, severe scoliosis patients showed lower PMz (P < 0.001) and PMI (P = 0.001). Non-ambulatory patients (n = 42) showed lower BMI (ß = 0.727, P < 0.001) and PMz (ß = 0.547, P = 0.025). In non-ambulatory patients, patients with severe scoliosis also showed lower PMz (P < 0.001) and PMI (P = 0.004). CONCLUSION: Patients with neurologic diseases could have sarcopenia even in young age. Psoas muscle volume was also associated with ambulatory function in these patients. Sarcopenia was more severe in severe scoliosis patients in the non-ambulatory subgroup.

Definition of Tweener: Consensus Among Experts in Treating Early-onset Scoliosis.

BACKGROUND: The term "Tweener" is colloquially used to refer to early-onset scoliosis (EOS) patients whose age and development make them candidates for multiple surgical options. The purpose of this study was to establish expert consensus on a definition to formally characterize the Tweener population. METHODS: A 3-round survey of surgeons in an international EOS study group was conducted. Surgeons were provided with various patient characteristics and asked if each was part of their definition for Tweener patients. Responses were analyzed for consensus (≥70%), near-consensus (60% to 69%), and no consensus (<60%). RESULTS: Consensus was reached (89% of respondents) for including chronological age in the Tweener definition; 8 to 10 years for females and 9 to 11 years for males. Surgeons agreed for inclusion of Sanders score, particularly Sanders 2 (86.0%). Patients who have reached Sanders 4, postmenarche, or have closed triradiate cartilage should not be considered Tweeners. Bone age range of 8 years and 10 months to 10 years and 10 months for females (12 y for males) could be part of the Tweener definition. CONCLUSIONS: This study suggests that the Tweener definition could be the following: patients with open triradiate cartilage who are not postmenarche and have not reached Sanders 4, and if they have one of the following: Sanders 2 or chronological age 8 to 10 years for females (9 to 11 y for males) or bone age 8 years and 10 months to 10 years and 10 months for females (12 y for males). This definition will allow for more focused and comparative research on this population. LEVEL OF EVIDENCE: Level V-expert opinion.

Updating the Evidence: Systematic Literature Review of Risk Factors and Strategies for Prevention, Diagnosis, and Treatment of Surgical Site Infection After Pediatric Scoliosis Surgery.

BACKGROUND: Surgical site infection (SSI) is a major potential complication following pediatric spinal deformity surgery that is associated with significant morbidity and increased costs. Despite this, SSI rates remain high and variable across institutions, in part due to a lack of up-to-date, comprehensive prevention, and treatment protocols. Furthermore, few attempts have been made to review the optimal diagnostic modalities and treatment strategies for SSI following scoliosis surgery. The aim of this study was to systematically review current literature on risk factors for SSI in pediatric patients undergoing scoliosis surgery, as well as strategies for prevention, diagnosis, and treatment. METHODS: On January 19, 2022, a systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies reporting risk factors for acute, deep SSI (<90 d) or strategies for prevention, diagnosis, or treatment of SSI following pediatric scoliosis surgery were included. Each included article was assigned a level of evidence rating based on study design and quality. Extracted findings were organized into risk factors, preventive strategies, diagnostic modalities, and treatment options and each piece of evidence was graded based on quality, quantity, and consistency of underlying data. RESULTS: A total of 77 studies met the inclusion criteria and were included in this systematic review, of which 2 were categorized as Level I, 3 as Level II, 64 as Level III, and 8 as Level IV. From these studies, a total of 29 pieces of evidence (grade C or higher) regarding SSI risk factors, prevention, diagnosis, or treatment were synthesized. CONCLUSIONS: We present an updated review of published evidence for defining high-risk patients and preventing, diagnosing, and treating SSI after pediatric scoliosis surgery. The collated evidence presented herein may help limit variability in practice and decrease the incidence of SSI in pediatric spine surgery. LEVEL OF EVIDENCE: Level III-systematic review.

A Comprehensive Assessment of Psychosocial Well-being Among Growing Rod Graduates: A Preliminary Investigation.

BACKGROUND: Traditional growing rods (TGR) encompass a long process, in which patients experience physical and psychosocial difficulties. However, the effect of repeating surgeries on the overall psychological functioning of graduated patients has not been thoroughly investigated in the literature. The aim of this study is to evaluate the psychological well-being of graduated idiopathic early-onset scoliosis patients in terms of psychopathology, neurocognition, and psychosocial functioning, and determine the accuracy of scoliosis outcome questionnaires in these regards. METHODS: TGR graduates with idiopathic early-onset scoliosis without known intellectual disabilities or neuromuscular impairments were included. Patients were thoroughly evaluated using psychological instruments [Wechsler Adult Intelligence Scale, Auditory Consonant Trigram Test, Verbal Fluency Test, Beck Depression Inventory, Beck Anxiety Inventory, Rosenberg Self-Esteem Scale, Symptom Checklist-90, Post-Traumatic Growth Inventory, Strengths and Difficulties Questionnaire, Spinal Appearance Questionnaire, Scoliosis Research Society 22-item questionnaire (SRS-22)]. Results were compared with normative data when available. Spearman correlations were performed between the results of these tests, the total treatment duration, and the number of spinal surgeries. RESULTS: Of the 15 patients included in the study, 9 were females, and the mean age was 18.73 (16 to 23). The mean age at index surgery was 6.38 (3 to 10) whereas that of graduation was 14.00 (12 to 16). The average number of spinal surgeries was 14.28 (7 to 20). Two patients performed below the range of adult intellectual functioning. Auditory Consonant Trigram Test showed normal verbal working memory and attention control. Six patients had abnormal Verbal Fluency Test performance. Eight patients had abnormal ratings on at least one of the assessment scales of psychopathology (Symptom Checklist-90, Beck Depression Inventory, and Beck Anxiety Inventory). Eight patients had low-to-moderate self-esteem (Rosenberg self-esteem scale). The median spinal appearance questionnaire and SRS-22 scores were 34 and 4.18, respectively. Pain and function subdomains of SRS-22 scored higher than self-image and mental health. No correlation was found between the treatment duration and number of surgeries and test scores. SRS-22 showed correlations with multiple psychological tests. CONCLUSION: Completed TGR treatment yields acceptable correction of deformities and surgical outcomes, however, may fail to improve psychological well-being. This is the first study to find various psychosocial abnormalities in two-thirds of cases. LEVEL OF EVIDENCE: Level IV; cross-sectional study.

Infrared thermography for the evaluation of adolescent and juvenile idiopathic scoliosis: A systematic review.

INTRODUCTION: Adolescent and Juvenile Idiopathic Scoliosis are a three-dimensional spine deformity characterized by a muscle alteration of the convex and concave sides of the scoliosis, which can be evaluated with different non-invasive and radiation-free methods such as infrared thermography. The objective of the present review is to assess infrared thermography as a potential method to evaluate alterations of the scoliosis. MATERIALS AND METHODS: A systematic review was performed by collecting articles from PubMed, Web of Science, Scopus, and Google Scholar, published from 1990 to April 2022, on the use of infrared thermography to evaluate adolescent and juvenile idiopathic scoliosis. Relevant data were collected in tables, and the primary outcomes were discussed narratively. RESULTS: Of the 587 articles selected, only 5 were in line with the objective of this systematic review and were eligible for the inclusion criteria. The findings of the selected articles corroborate the applicability of infrared thermography as an objective method to assess the thermal differences of the muscles between the convex and concave sides of scoliosis. The overall quality of the research was uneven in the reference standard method and assessment of measures. CONCLUSION: Infrared thermography is providing promising results to discriminate thermal differences in scoliosis evaluation, albeit there are still some concerns about considering it as a diagnostic tool for scoliosis evaluation because specific recommendations for collecting data are not met. We propose additional recommendations to existing guidelines to perform thermal acquisition to reduce errors and provide the best results to the scientific community.

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.

Pre-operative respiratory assessment for children with spinal deformity.

Pre-operative respiratory assessment of children with spinal deformity requires an understanding of the deformity, the proposed surgery and most importantly the children themselves. The assessment and the tailoring of investigations will differ according to the age, developmental level and co-morbidities of the child. This review uses a mixture of evidence and case-based practice in order to set out a suggested framework for pre-operative spinal assessment, and suggested recommendations that may be provided to best support children undergoing surgery for spinal deformity.

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

BACKGROUND: Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. METHODS: In this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited. RESULTS: After ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis. CONCLUSION: ES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.