The prevalence of scoliosis among adolescents in China: a systematic review and meta-analysis.

BACKGROUND: To systematically evaluate the prevalence of scoliosis in adolescents aged 10-18 years in China, and to provide evidence-based evidence for the early identification, prevention, and management of scoliosis in adolescents. METHODS: We searched 7 databases of CNKI, Wanfang, VIP, PubMed, Web of Science, Embase, and Cochrane Library from January 2000 to June 2024, and included related studies on scoliosis among Chinese adolescents aged 10-18. The quality evaluation criteria of cross-sectional studies recommended by the Agency for Healthcare Research and Quality (AHRQ) were used for literature quality evaluation. Stata 18.0 software was used for statistical analysis. RESULTS: We finally included 42 studies, involving a total of 1,149,330 subjects from 30 regions. The results showed that the prevalence of scoliosis in Chinese adolescents aged 10-18 years was 1.2% [95%CI (1.1%, 1.4%)]. The results of the subgroup analyses are as follows: ① The prevalence of scoliosis in adolescent women (1.6%) was higher than that in men (1.0%). ② The prevalence of scoliosis in adolescents aged 16-18 (1.3%) was higher than that in adolescents aged 10-15 (1.1%). ③ By region, the prevalence of scoliosis was slightly higher in the North (1.3%) than that in the South (1.2%). ④ According to the time of publication, the prevalence of scoliosis in Chinese adolescents increased from 0.9% during 2000-2015 to 1.6% during 2016-2024. ⑤ According to the degree of the Cobb angle, the curve magnitude was mainly mild (Cobb angle: 10°-19°), and the prevalence rate was 0.7%; the second was moderate (Cobb angle: 20°-39°), with a prevalence of 0.2%. CONCLUSION: The prevalence of scoliosis in adolescents aged 10-18 years in China is 1.2%, suggesting that the prevalence may be gradually increasing in recent years. In addition, the degree of scoliosis is mainly mild, and timely intervention and prevention are necessary.

Outcomes of growth hormone treatment in children with Prader-Willi syndrome over a 30-year period: a single tertiary center experience.

OBJECTIVES: Clinical benefits of growth hormone (GH) in Prader-Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients. DESIGN AND METHODS: This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0-18 years with PWS, seen through the Children's Hospital at Westmead between March 1992 and May 2022 (n=75). RESULTS: A total of 64 patients were treated with GH (visits = 1,414). In the recent decade, the diagnosis of PWS and GH commencement were made significantly earlier in life. The prevalence of scoliosis was 41 %, in which age was the only significant predictor for scoliosis (odds ratio 1.19: 95 % CI [1.08-1.31; p=0.001]) adjusted for other predictors. In patients with data available at the age 16 years (23/28 treated with GH), those who were GH treated had significantly higher height SDS vs. nontreated group (SDS -0.67 vs. -2.58; p=0.0001) and lower BMI SDS (1.18 vs. 2.37; p<0.001). CONCLUSIONS: Significant improvements in growth and body composition were seen in the GH-treated group vs. non-treated group of children with PWS. There were no significant modifiable clinical predictors of scoliosis in children with PWS, but our findings confirm the high prevalence of scoliosis in GH-treated children with PWS reinforcing the need for close surveillance.

Evaluation of the prevalence of adolescent scoliosis and its associated factors in Gansu Province, China: a cross-sectional study.

Introduction: Gansu Province is situated in the northwest region of China, characterized by diverse and complex topography and a rich diversity of ethnic groups. This study aims to explore the prevalence and risk factors of adolescent suspected scoliosis in Gansu Province through a cross-sectional population study. Methods: From April 2022 to July 2022, a prospective cross-sectional study was conducted in Baiyin City, Jinchang City, Lanzhou City, Linxia Hui Autonomous Prefecture, and Gannan Tibetan Autonomous Prefecture in Gansu Province. The screening covered 3,118 middle and high school students across 24 institutions, including middle and high schools. Diagnosis of suspected scoliosis was established through visual inspection, the Adams forward bend test, and measurement of trunk rotation angle. Employing a custom-designed questionnaire, demographic data were collected, and the prevalence of suspected scoliosis was calculated. Univariate and multivariate logistic regression analyses were employed to assess factors associated with suspected scoliosis. Results: A total of 3,044 participants were ultimately included in the analysis. The overall prevalence of suspected scoliosis was 5.68% in Gansu Province. The peak prevalence for boy is at 14 years (6.70%), while for girl, it is at 15 years (8.75%). Lanzhou City exhibits the highest prevalence rates (boy, 9.82%; girl, 10.16). The results of univariate logistic regression analysis presented that BMI (OR = 0.92, 95% CI: 0.88-0.96), altitude of habitation (1,600 m-2000 m) (OR = 0.50, 95% CI: 0.34-0.73), altitude of habitation (2000 m-3321 m) (OR = 0.58, 95% CI: 0.40-0.83), family medical history (OR = 1.56, 95% CI: 1.02-2.31), and shoulders of unequal height (OR = 1.49, 95% CI: 1.09-2.03) were significantly correlated with suspected scoliosis. The multivariate logistic regression analysis indicated that BMI (OR = 0.91, 95% CI: 0.86-0.95), altitude of habitation (1,600 m-2000 m) (OR = 0.35, 95% CI: 0.23-0.54), altitude of habitation (2000 m-3321 m) (OR = 0.39, 95% CI: 0.24-0.60), family medical history (OR = 1.66, 95% CI:1.08-2.49), and shoulders of unequal height (OR = 1.45, 95% CI:1.06-1.99) were independently associated with suspected scoliosis. Conclusion: Low BMI, residence at an altitude of 1,600 m-3321 m, family medical history, and shoulders of unequal height were independently associated with an increased prevalence of suspected scoliosis. It is recommended to promptly screen high-risk adolescents for suspected scoliosis, provide effective preventive and intervention measures.

Impact of lumbar spine pathology on asymmetrical hallux valgus in a population-based cohort study.

This study aims to investigate the influence of lumbar spine disorders on the development of asymmetric hallux valgus (HV). Data from the fifth survey of the Osteoarthritis/Osteoporosis Against Disability (ROAD) study, a nationwide prospective study in Japan, were analyzed. HV severity was categorized into 4 grades based on the radiographic HV angle, and asymmetric HV was defined as having at least one HV on either side, with a difference of two or more severity grades between the left and right. Controls were matched from both the Normal group (without HV on both sides) and the Symmetric group (HV on at least one side with a difference of one or less severity grades). Univariate analysis assessed lumbar conditions, and multinomial logistic regression analysis explored the association between lumbar spine disorders and asymmetric HV. Among 1997 participants, 27 had asymmetric HV. Univariate analysis revealed a higher incidence of L5 spondylolisthesis and scoliosis in the Asymmetric group. Multinomial logistic regression analysis revealed that scoliosis independently increased the likelihood of asymmetrical HV (Odds ratio [OR] = 3.586, 95%Confidence interval [CI] 1.111-11.582), but showed no significant impact on symmetrical HV (OR 0.910, 95% CI 0.355-2.334). Asymmetric HV is rare but may be associated with lumbar spine disorders, particularly scoliosis.

Fetal Scoliosis: Natural History and Outcomes.

INTRODUCTION: Scoliosis can be detected on prenatal ultrasonography and may be associated with structural and syndromic abnormalities. Associations and pregnancy outcomes related to the prenatal diagnosis of scoliosis are poorly understood. METHODS: A retrospective cohort study was undertaken at a tertiary referral center in London. Referred cases with spinal deformities between 1997 and 2021 were identified from the prenatal ultrasonography database. Outcomes were ascertained from the database and electronic notes. RESULTS: One hundred twenty-three cases of fetal spinal deformities (scoliosis, kyphosis, or kyphoscoliosis) were identified from a referral population of 660,000 pregnancies, giving an incidence of approximately 0.2 per 1000 fetuses. Fifty-eight live births (47.2%) and 65 cases (52.8%) of fetal or neonatal demise or termination were observed. Most live births were isolated spinal deformities with a good postnatal outcome (n = 35, 60.3%). The commonest syndromic diagnosis in this group was VACTERL association (n = 7, 12.1%). Most cases of fetal loss were associated with severe malformations, most commonly spina bifida, body stalk anomaly and amniotic band sequence, or chromosomal abnormalities, except in 2 cases (3.1%). CONCLUSIONS: This is the largest reported cases series to date of prenatally diagnosed fetal spinal deformity. This confirms that fetal scoliosis and associated vertebral abnormalities are underdiagnosed prenatally, with the reported incidence (0.2 per 1000) lower than the recognized incidence of congenital scoliosis (1 in 1,000). The concurrent finding of severe malformations was strongly associated with fetal loss. When an isolated finding, most fetal spinal deformities had a good postnatal outcome, while 1:8 live births were diagnosed with VACTERL association.

Hypermobility Among Adolescents and the Association With Spinal Deformities: A Large Cross-Sectional Study.

INTRODUCTION: Adolescent idiopathic scoliosis and Scheuermann kyphosis are common spinal deformities (SD) among adolescents. The potential link between hypermobility and SD is a topic of debate. We aimed to investigate the prevalence of hypermobility and its association with SD. METHODS: A cross-sectional analysis of records of 17-year-old subjects who were recruited into mandatory military service was conducted. Study population comprised 1,220,073 subjects. Prevalence rates were calculated for hypermobility and different categories of SD by severity, studying the strength of the association between hypermobility and SD. RESULTS: Of 1,220,073 subjects, 0.0111% exhibited hypermobility. Spinal deformities were identified in 10.5% of subjects. Specifically, 7.9% had mild SD, 2.4% had moderate SD, and 0.1% had severe SD. The overall association between hypermobility and SD showed an odds ratio of 2.31 (P < 0.001). Subgroup analyses revealed ORs of 1.226 (P = 0.041) for mild deformities, 5.783 (P < 0.001) for moderate deformities, and 4.01 (P = 0.002) for severe deformities. The association was stronger for moderate and severe SD. CONCLUSIONS: This study establishes a notable association between hypermobility and SD among adolescents. The findings highlight the importance of understanding this relationship, which could contribute to advancements in comprehending SD development. Additional research is warranted to expand upon these findings.

Distribution of scoliosis in 2.22 million adolescents in mainland China: A population-wide analysis.

Background: The characteristics of scoliosis afflicting school children and adolescents in mainland China are still unclear. Therefore, we conducted a systematic review to estimate scoliosis's prevalence and characterise its distribution in China. Methods: We screened PubMed, Scopus, WanFang, China National Knowledge Infrastructure, National Science and Technology Library, and WeiPu databases for mainland China articles published between 1 January 1980 and 31 October 2022. Among them, we identified population-wide scoliosis studies in school children and adolescents. The main outcomes were the positive rate of primary screening and the prevalence of final screening. Primary screening mainly included general examination with/without the forward bending test in school. The final screening entailed clinical diagnosis by Röntgen radiation in a hospital (based on primary screening). A meta-analysis of scoliosis distribution by gender was performed to calculate the odds ratios (ORs) and 95% confidence intervals (CIs). Further, we analysed the distributions of scoliosis by age, region, aetiological type, and severity of curvature, in addition to the correlation between its prevalence and altitude or latitude. Results: 77 studies with 2 224 320 participants were included. The positive rate through primary screening was 3.97%, whereas the prevalence of scoliosis at final screening was 1.20%. Analysing the data revealed a higher prevalence of scoliosis in girls (OR = 1.57; 95% CI = 1.38-1.81). The age-wise peak rate of scoliosis was 15-16 years (1.07%) in boys and 13-14 years (1.42%) in girls. The mean prevalence of scoliosis was 1.07% in the western region, 1.54% in the central, and 1.35% in the eastern. Scoliosis prevalence was not correlated with either altitude or latitude. The prevalence of idiopathic and congenital scoliosis was 1.18 and 0.03%. Among all subjects with scoliosis, 79.10 and 16.80% had mild and medium disease severity. Conclusions: According to this comprehensive study using data sets of scoliosis in adolescents across mainland China, the mean prevalence of scoliosis is 1.20%, yet 1.57 times higher in girls than boys, and is most prevalent in the middle region. Overall, scoliosis in adolescents could pose a burden to public health in mainland China. Registration: PROSPERO CRD42021231987.

Back pain in adolescent idiopathic scoliosis: frequency and risk factors.

PURPOSE: Although back pain is commonly reported in patients with adolescent idiopathic scoliosis (AIS), factors that influence the presence and severity of back pain in AIS, including curve-specific variables, have not been well studied. This study aims to describe the prevalence and severity of back pain in AIS patients and determine the extent to which patient characteristics, including curve-specific factors, are associated with a higher risk of back pain in AIS. METHODS: The study was a retrospective medical records review of adolescents (aged 10-17 years) diagnosed with AIS between 01/01/2018 and 12/31/2021 at an academic tertiary children's hospital. Patients with previous spine surgery were excluded. Variables collected included demographics (age, sex, race, insurance), Lenke classification, major coronal curve, back pain-related information, Risser stage, vitamin D levels, post-diagnosis brace utilization, physical therapy or chiropractic treatment, and surgery. RESULTS: A total of 891 AIS patients were included in the analysis. The sample was predominantly female (73.3%) and insured by Medicaid (57.8) with a mean age of 12.8 years. The mean major coronal curve was 26.3 degrees. Most patients had Lenke type 1 (47%) and type 5 (41%) curves. Nearly half of patients reported back pain (48.5%) with average pain severity in the low-to-moderate range (4.7) on FACES pain scale (0-10). Among those who reported back pain, 63.2% specified a location with the majority reporting pain in the lumbar region (56%) and, less commonly, in the thoracic (39%) and scapular (8%) regions. Lumbar pain was associated with significantly higher pain intensity (p = 0.033). Additionally, the location of pain reported was associated with location of major coronal curve (p < 0.0001). No association was observed between pain presence and vitamin D deficiency (p = 0.571, n = 175), major coronal curve magnitude (p = 0.999), Lenke curve type (p = 0.577), and sex (p = 0.069). Older patients, those insured by Medicaid, and those with higher Risser scores were more likely to report pain scores (p = 0.001 for all). CONCLUSION: Nearly half (48%) of newly diagnosed AIS patients experience back pain which is higher than the prevalence of 33% seen in the general adolescent population. Pain was more prevalent among patients over the age of 13, with heavier body weight, and those insured by Medicaid. Pain was most commonly reported in the lumbar region, especially among patients with lumbar curves. This information can be helpful in counseling AIS patients, though further investigations are needed, especially to determine the underlying causes of back pain in AIS and to elucidate the discrepancy in pain between patients with Medicaid and commercial insurance. LEVEL OF EVIDENCE: Prognostic Study Level II.

The Prevalence of Hip Dysplasia on Radiographs for Adolescent Idiopathic Scoliosis.

BACKGROUND: During radiographic assessment of adolescent idiopathic scoliosis (AIS), upright images frequently capture the hip. The purpose of this study was to assess the prevalence of radiographic hip dysplasia on postero-anterior (PA) scoliosis radiographs, as defined as a lateral center edge angle (LCEA) ≤25 degrees. METHODS: All patients with upright PA scoliosis radiographs over a one-year study period at a single tertiary academic medical center (2020 to 2021) were included in the study. Radiographs containing the hip joints were annotated by 3 reviewers for left and right LCEA, and triradiate cartilage (TRC) status. Inter-rater reliability was determined among the 3 reviewers. RESULTS: Two hundred fifty patients {500 hips, 75.6% female, median age 14 [interquartile range (IQR)=3]} had PA scoliosis radiographs that captured the hip, which qualified for analysis. Seventy-four hips (14.8%) demonstrated evidence of dysplasia (LCEA ≤25 deg) in 55/250 patients (22%). The median LCEA was significantly lower in the dysplastic hip cohort (23.9 deg, IQR=4.8 deg), compared with those without dysplasia (33 deg IQR=7.3 deg; P =0.001). A higher percentage of dysplastic hip patients were female than male (72.7% vs. 27.3%). Patients with bilateral dysplasia had a similar LCEA ( 22.9 deg) [to those with unilateral dysplasia (22.9 deg left, 23.9 deg right, P =0.689)]. CONCLUSIONS: In a cohort of 250 AIS patients, 22% demonstrated evidence of hip dysplasia, as defined as an LCEA ≤2 degrees. The dysplastic patients were more likely to be female. Screening for hip symptomatology in AIS patients may be of benefit, considering the frequency of radiographic hip dysplasia in this population. LEVEL OF EVIDENCE: III. Type of Evidence: diagnostic.

Is refractive error a factor affecting scoliosis?

BACKGROUND: Scoliosis is one of the most common surgical disorders of the pediatric spine. Refractive errors are commonly associated with vision impairment worldwide. However, it is currently unclear whether refractive error correlates directly with the development of scoliosis. METHODS: A cross-sectional study was performed in 2023, and a stratified cluster sampling technique was employed among school-aged students in Nantong City, China. Univariate and multivariate logistic regression analyses were used to investigate specific correlations between scoliosis and related parameters; various types of refractive errors were also included in the study. RESULTS: The prevalence of scoliosis among school-aged students was 2.2% in Nantong city. Multiple logistic regression analyses showed that myopia, hyperopia, astigmatism, and anisometropia were not correlated with the development of scoliosis (all, p≥0.05). Lower body mass index (BMI) [adjusted odds ratio (aOR) = 0.92; 95% confidence interval (CI): 0.88-0.95; p<0.001], living in rural areas (aOR = 1.40; 95% CI: 1.05-1.86; p = 0.020), and older age (aOR = 1.32; 95% CI: 1.25-1.38; p<0.001) had significantly higher risks of scoliosis. CONCLUSIONS: Refractive errors did not correlate with the development of scoliosis. However, BMI, living in rural areas and older age did correlate with the development of scoliosis.

Spinal dysraphism in congenital scoliosis and kyphosis: a retrospective analysis in an Indian population.

PURPOSE: Early recognition is crucial for occult spinal dysraphism associated with congenital spinal deformities. There is limited literature available on its occurrence in congenital scoliosis and kyphosis in the Indian population. METHODS: Our study involved a retrospective review of 247 children who presented at a single centre. We analyzed their demographics and clinical and radiological findings, which included the type of deformity, its location, vertebral anomaly, Cobb angle, and MRI findings. The deformities were categorized as congenital scoliosis or congenital kyphosis with failure of formation, failure of segmentation, or both. RESULTS: A total of 247 cases were examined (congenital scoliosis-229, congenital kyphosis-18). The average age was seven years (range 0.8 to 19 years, SD 4.6). The mean Cobb angle at presentation in the congenital scoliosis group was 49.4° (range 8 to 145°, SD 23.77) for those with abnormal MRI and 42.45° (range 5 to 97°, SD 20.09) for those with normal MRI. For the congenital kyphosis group, the mean K angle at presentation was 47.7° (range 14 to 110°, SD 33.33) for those with abnormal MRI and 47.36° (range 15 to 70°, SD 16.63) for those with normal MRI. Abnormal MRI results were observed in 130 of the patients (congenital scoliosis-53.7%, congenital kyphosis-38.8%). The highest incidence of abnormal MRI findings was observed in the failure of segmentation (66.6%) and mixed (65%) types. Deformities in the dorsal region had the highest incidence (61.9%). The most common dysraphism instances were diastematomyelia and tethered cord. There was a significant correlation between type of deformity and presence of dysraphism. CONCLUSION: This is the largest case series of congenital scoliosis and kyphosis reported from India. We found a high incidence of occult spinal dysraphism as compared to other published series. Occult spinal dysraphism is more common in the thoracic region. Diastematomyelia followed by tethered cord was the most common anomaly observed. We recommend MRI screening of whole spine and craniovertebral junction.

Klippel-Feil syndrome: Should additional examination be conducted?

PURPOSE: Klippel-Feil syndrome (KF) is a rare disease defined as single or multi-level cervical vertebra fusion. KF could be accompanied by other spinal anomalies or isolated, and in which case necessity of whole spine screening is not clearly known. KF is investigated in terms of prevalence, gender distribution, fusion types, and frequency of accompanying anomalies according to types of KF. METHODS: Approval from our hospital's ethics committee was received for this single-center, retrospective study. Considering the exclusion criteria among the 40,901 cervical spine MRIs, 40,450 patients were included in the study. It was re-evaluated for KF, fusion level, classification, cervical scoliosis, and other musculoskeletal and spinal anomalies. RESULTS: 125 (0.309%) of 40,450 patients is diagnosed with KF, which is more common in women (P < 0.001). Single fused segment 106 (84.8%), multilevel fused segments 8 (6.4%), contiguous fused segments 11 (8.8%) are observed. Upper level KF is detected in 13 (10.4%) patients. The frequency of additional anomaly is significantly higher in upper level KF compared to other level fusions (P < 0.001, Chi-square t). The cervical scoliosis is diagnosed 34 (27%). In KF patients with scoliosis, the frequency of additional anomalies was significantly higher (P < 0.001, Chi-square t). CONCLUSION: Klippel-Feil prevalence is 0.309%, it is frequently observed in women, and at C2-C3 level. Additional anomalies are especially associated with 'contiguous fused segments' and 'upper level' types. Klippel-Feil with scoliosis is an indicator of increased risk for associated anomalies, and examination of the whole spine is recommended.

Prevalence of total joint arthroplasty in the adult spine deformity population.

PURPOSE: The spine, hip, and knee are anatomically and biomechanically connected. Total hip arthroplasty (THA) and total knee arthroplasty (TKA) are commonly employed to treat degenerative changes in the hip and knee, while fusion is used for spine degeneration. Spine deformity correction results in changes in sagittal alignment and pelvic parameters, and patients with stiff spines have higher rates of THA dislocation and revision due to instability. The goal of this study was to determine the prevalence of total joint arthroplasty (TJA) in adult spinal deformity (ASD) patients at our institution. METHODS: Following Institutional Review Board approval, we retrospectively reviewed a list of cases performed by the senior author from 4/2017 to 5/2021. Patients > 18 years old undergoing preoperative evaluation for symptomatic lumbar degeneration or ASD were included. Patients < 18 years old, those diagnosed with adolescent idiopathic scoliosis, and non-fusion cases were excluded. Perioperative full-length standing EOS images were examined for the presence or absence of THA, TKA, or both. Demographic data was collected from patient electronic medical records, and statistical analyses were completed. RESULTS: 572 consecutive cases were reviewed, and 322 were excluded. 250 cases (97M:153F) were included in the final analysis, with a mean age of 61.8 ± 11.2 years. A total of 74 patients had a TJA (29.4%). THA was present in 41 patients (16.4%), and TKA was present in 49 patients (19.6%). Males had a higher prevalence of TJA, THA, and TKA (29.9%, 16.5%, and 21.6%) than females (29.4%, 16.3%, and 18.3%). CONCLUSIONS: This study revealed a high prevalence TJA rate of 29.4% in ASD at our institution. This rate surpasses the prevalence rate reported among the general population in previous studies. High prevalence of patients with ASD and TJA may merit special surgical consideration.

Half of the adolescent idiopathic scoliosis patients may have lumbar adjacent segment degeneration following spinal fusion: A systemic review and meta-analysis.

OBJECTIVE: This study aims to assess the impact of surgical approaches and other factors on the incidence of Adjacent Segment Degeneration (ASD) following Spinal Fusion for Adolescent Idiopathic Scoliosis (AIS). METHODS: We conducted a comprehensive search of four electronic databases from their inception until March 30, 2023. Two independent reviewers screened titles, abstracts, and full texts and evaluated the methodological quality of the studies. A random-effects model was used to calculate the incidence of ASD. RESULTS: Our analysis included 14 studies involving 651 individuals. The overall incidence of ASD was 47% (95%CI: 0.37, 0.56). Subgroup analyses revealed that the prevalence of ASD increased with postoperative time (53% (95%CI: 0.31, 0.75) versus 48% (95%CI: 0.36, 0.60) versus 39% (95%CI: 0.22, 0.56)). For the number of fused segments, a group with more than 10 segments had a higher prevalence (49% (95%CI: 0.38, 0.60) versus 44% (95%CI: 0.21, 0.69)). In terms of regions, East Asia had the highest prevalence, followed by Occident and West Asia (52% (95%CI: 0.41, 0.62) versus 43% (95%CI: 0.20, 0.68) versus 37% (95%CI: 0.17, 0.59)). However, the surgical approach, male ratio, and the position of the lowest instrumented vertebra (LIV) did not show significant differences between groups. Funnel plots and Egger's test did not reveal any significant publication bias (Egger's test: t = 1.62, p-value = .1274). CONCLUSION: This meta-analysis found that nearly half of AIS patients following spinal fusion surgery experienced ASD. Long-term follow-up, regular screening, and timely interventions are essential to reduce the prevalence of ASD.

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.

Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A genome-wide association study identified a female-specific AIS susceptibility locus near the PAX1 gene. Here, we use mouse enhancer assays, three mouse enhancer knockouts, and subsequent phenotypic analyses to characterize this region. Using mouse enhancer assays, we characterize a sequence, PEC7, which overlaps the AIS-associated variant, and find it to be active in the tail tip and intervertebral disc. Removal of PEC7 or Xe1, a known sclerotome enhancer nearby, or deletion of both sequences lead to a kinky tail phenotype only in the Xe1 and combined (Xe1+PEC7) knockouts, with only the latter showing a female sex dimorphic phenotype. Extensive phenotypic characterization of these mouse lines implicates several differentially expressed genes and estrogen signaling in the sex dimorphic bias. In summary, our work functionally characterizes an AIS-associated locus and dissects the mechanism for its sexual dimorphism.

Incidence and sequence of scoliosis and windswept hip deformity: which comes first in 4148 children with cerebral palsy? A longitudinal cohort study.

BACKGROUND: The aim was to analyse whether scoliosis or windswept hip deformity (WSH) occurs first for children with cerebral palsy (CP). METHODS: This longitudinal cohort study using data from 1994 - 2020 (26 years) involved 41,600 measurements of 4148 children (2419 [58.3%] boys) with CP born 1990 - 2018 and registered into the Swedish CP follow-up program. Children were followed from a mean age of 2.8 [SD 1.4] years, until they developed either scoliosis or WSH or were removed at surgery. RESULTS: WSH developed first in 16.6% of the children (mean age 8.1 [SD 5.0] years), and scoliosis in 8.1% (mean age 8.1 [SD 4.9] years). The incidence of WSH was higher than scoliosis across all levels I-V of the Gross Motor Function Classification System (GMFCS), both sexes, and for those with dyskinetic (20.0%) or spastic (17.0%) CP. The incidence of scoliosis was highest (19.8%) and developed earliest in children with GMFCS level V (mean age 5.5 [SD 3.5] years), and in children with dyskinetic (17.9%) CP (mean age 7.0 [SD 4.7] years). CONCLUSIONS: WSH presents earlier than scoliosis in most children with CP. Children with higher GMFCS level or dyskinetic CP are more likely to develop these deformities at a younger age.

Prevalence of spinal deformity development after surgical management of a congenital heart disease among children: a systematic review and meta-analysis.

INTRODUCTION: Open heart surgery is the most common treatment for congenital heart disease. Thoracotomy, sternotomy, or a combination of both are the main approaches used in open heart surgeries. In cardiac surgery, there have been concerns that these surgeries increase the likelihood of spinal deformities. Therefore, this systematic review and meta-analysis provided updated evidence on the prevalence of spinal deformities following congenital heart surgery. METHOD: EMBASE, Medline, ScienceDirect, and Google Scholar were used to search for studies published until 2022. We include randomized clinical trials and observational studies that reported the prevalence of spinal deformities (scoliosis and kyphosis) after congenital heart surgery among participants without these deformities before surgery. Two independent reviewers independently screened literature identified from the databases. Two reviewers independently conducted screening of studies identified during the search, data extraction, and quality assessment of the included studies. RESULTS: In total, 688 studies were screened; 13 retrospective and one prospective cohort studies were included, encompassing 2294 participants. The pooled prevalence of spinal deformities (scoliosis and kyphosis) after open heart surgery performed on skeletally immature patients was 23.1% (95% confidence interval [CI] = 23.1-35.3; I2 = 97.5%). CONCLUSION: This review suggests that the prevalence of spinal deformities was high among patients who underwent sternotomy or thoracotomy.

Is the Child Opportunity Index a Factor in Surgical Outcomes for Adolescent Idiopathic Scoliosis?

BACKGROUND: Low socioeconomic status (SES) has been previously associated with delays in orthopaedic care. However, it is unclear how SES impacts patients with adolescent idiopathic scoliosis (AIS), particularly regarding preoperative major coronal curve angle or surgical outcomes. Utilizing the Child Opportunity Index (COI)-an address-driven measure of pediatric education, health/environment, and SES-we investigated whether COI is associated with differences in preoperative scoliosis magnitude, age at surgery, and AIS surgical outcomes. METHODS: Consecutive patients with AIS surgically treated at a single center from 2011 to 2017 were reviewed. COI was calculated by inserting a patient's home address into the nationally available COI database to derive a COI value. COI is scored from 0.0 to 100.0 (0.0 is lowest, 100.0 is highest). Specifically, COI is categorized as very low (<20.0), low (20 to 39.9), moderate (40 to 59.9), high (60 to 79.9), and very high (≥80). Those without addresses were excluded. Patients without proper radiographs to assess curve correction were also excluded. A COI threshold of 60.0 was used to separate patients into a low (<60.0) or high COI ( ) group based on published COI guidelines. Outcomes, including preoperative curve magnitude, age at surgery, percentage curve correction, operative time (OT), intraoperative estimated blood loss per level fused, length of stay, and complications, were compared across groups. Pearson correlation analysis was used to assess correlations between COI and preoperative curve magnitude, as well as age. RESULTS: Four hundred four patients were included in the study, and 263 had 2-year follow-up data. Patients were an average age of 14.9 years old (range: 11.2 to 19.8), had a median COI of 76 (range: 4 to 100), and had a mean preoperative major curve angle of 59 degrees (range: 36 to 93). COI was significantly higher for white patients compared with non-white (80.0 vs 40.0, P < 0.001), and higher for non-Hispanic individuals (79.0 vs 15.0, P < 0.001). Patients with Low COI were associated with a lower OT per level fused ( P = 0.003) and decreased postoperative complication risk ( P = 0.02). COI was not associated with preoperative major coronal curve angle, age at surgery, or any other surgical outcomes. CONCLUSION: COI was significantly lower for non-white patients and those of Hispanic ethnicity. Patients from low COI backgrounds achieved similar surgical results as those from high COI addresses and had a decreased OT per level fused and complication incidence, though the clinical significance of these differences is unknown. Future prospective studies are needed to determine whether these findings are reproducible across other states and health systems. LEVEL OF EVIDENCE: Level III-prognostic study.

The relationship between mitral valve prolapse and thoracic skeletal abnormalities in clinical practice: a systematic review.

BACKGROUND: Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000). METHODS: PubMed and EMBASE databases were systematically reviewed in November 2023. Studies assessing the relationship between MVP and TSA and estimating the MVP prevalence in pectus excavatum (PE), pectus carinatum (PC), scoliosis, straight back syndrome (SBS) and Marfan syndrome (MS) were included. There was no limitation on time periods. RESULTS: Twenty-five studies with a total of 2800 patients (27.9 ±â€Š13.9 years, 48.2% females) were analyzed. The highest prevalence of MVP was observed among MS patients (47.3%), while the lowest was detected in PC individuals (23%). Prevalence of MVP was similar among PE (30.8%), scoliosis (26.3%) and SBS (25.5%) patients. When dividing the studies on the basis of temporal period, the average MVP prevalence was approximately two-fold higher in all studies conducted before the year 2000 in comparison with the most recent ones, regardless of TSA type. This discrepancy might be primarily ascribed to relevant differences in the echocardiographic criteria employed for MVP diagnosis before (less specific) and after (more specific) the year 2000, respectively. CONCLUSIONS: The estimated MVP prevalence in TSA individuals is significantly higher than that observed in the general population. Individuals with TSA should be screened for MVP presence on transthoracic echocardiography.

Hip-sacroiliac joint-spine syndrome in total hip arthroplasty patients.

This study is designed to compare the extent of sacroiliac joint (SIJ) degeneration at total hip arthroplasty (THA) for two pathologies: osteoarthritis of the hip (OA) and osteonecrosis of the femoral head (ON). We also assessed the prevalence of SIJ degeneration in patients with lumbar spondylolisthesis or degenerative scoliosis. A total of 138 hips from 138 patients (69 OA and 69 ON) were assessed in this study, including 66 hips affected by OA secondary to developmental dysplasia of the hip. The degenerative changes in the SIJ and lumbar spine were evaluated prior to THA using radiographs and computed tomography (CT) scans, showing 9 instances of spondylolisthesis and 38 of degenerative scoliosis. The OA group exhibited longer duration from onset to surgery than the ON group. The OA group also included more cases with significant pelvic obliquity (3 degrees or more) and with significant increases in SIJ sclerosis and irregularities. Patients with lumbar spondylolisthesis or degenerative scoliosis were significantly more likely to have SIJ irregularities. The prevalence of SIJ degeneration was higher in cases of THA for OA than for ON. This study also suggests the possibility of Hip-SIJ-Spine syndrome in THA patients with OA.