The role of scoliosis on the comorbidity and demographics of neurofibromatosis type 1 patients: A retrospective analysis of the National Inpatient Sample database.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome in the United States, affecting every 1 in 3000 individuals. NF1 occurs due to non-functional mutations in the NF1 gene, which expresses neurofibromin, a protein involved in tumour suppression. As a result, NF1 typically presents with non-cancerous neoplasm masses called neurofibromas across the body. Out of all NF1 abnormalities, the most common skeletal abnormality seen in around 10%-30% of NF1 patients is scoliosis, an improver curvature of the spine. However, there is a lack of research on the effects of scoliosis on demographics and morbidities of NF1 patients. We performed a national analysis to investigate the complex relationship between NF1 and scoliosis on patients' demographics and comorbidities. We conducted a retrospective cross-sectional analysis of the 2017 US National Inpatient Sample database using univariable Chi-square analysis and multivariable binary logistic regression analysis to determine the interplay of NF1 and scoliosis on patients' demographics and comorbidities. Our query resulted in 4635 total NF1 patients, of which 475 (10.25%) had scoliosis and 4160 (89.75%) did not. Demographic analysis showed that NF1 patients with scoliosis were typically younger, female and white compared to NF1 patients without scoliosis. Comorbidity analysis showed that NF1 patients with scoliosis were more likely to develop malignant brain neoplasms, epilepsy, hydrocephalus, pigmentation disorders, hypothyroidism, diabetes with chronic complications and coagulopathy disorders. NF1 patients with scoliosis were less likely to develop congestive heart failure, pulmonary circulation disease, peripheral vascular disease, paralysis, chronic pulmonary disease, lymphoma and psychosis. NF1 patients with scoliosis were predominantly younger, female, white patients. The presence of scoliosis in NF1 patients increases the risks for certain brain neoplasms and disorders but serves a protective effect against some pulmonary and cardiac complications.

Hip displacements and correctable scoliosis were prevalent in children with cerebral palsy registered in a Danish follow-up programme from 2010 to 2020.

AIM: We need a better understanding of non-surgical interventions for hip dislocations and scoliosis. This study estimated the cumulative incidence of problems among children with cerebral palsy and described the type and frequency of therapist-led interventions. METHODS: The study comprised 1482 children (58% male) aged 0-15 years, with a mean age of 3.6 years, who were registered in the Danish Cerebral Palsy Follow-up Programme from 2010 to 2020. We used the Kaplan-Meier estimator to examine the cumulative incidence of hip displacement, hip dislocation, correctable scoliosis and non-correctable scoliosis. The type and frequency of therapist-led interventions are reported descriptively. RESULTS: The cumulative incidence of hip displacement and hip dislocation were 15.8% and 3.5%, respectively, and 39.0% and 13.9% for correctable and non-correctable scoliosis. The most frequently reported type of therapist-led intervention was a joint range of motion exercise. We found that 60.5% with hip displacements and 43.8% with correctable scoliosis used a standing aid. A further 5.4% used a spinal orthosis to prevent deformity and 8.1% for stabilisation. CONCLUSION: Hip displacement and correctable scoliosis were prevalent in children with cerebral palsy, whereas the occurrence of hip dislocations and non-correctable scoliosis was low. The use of assistive aids was low.

The burden of scoliosis: a nationwide database study on demographics, incidence, and surgical rates.

INTRODUCTION: Scoliosis is characterized as a three-dimensional deformity of the spine, affected by variety of factors, including biological, mechanical, hormonal, and genetics. METHODS: Our study's primary objective was to delineate the demographics, incidence, and prevalence of scoliosis from a nationwide perspective, analyze the surgical intervention rates, with the aim of offering more insightful guidance to orthopedic physicians. This nationwide cohort study was conducted from digital database for healthcare information management. Relevant population data, for children under 18 years old, was extracted from the official government census within the period of January 2015 to December 2022. Utilizing diagnostic code of M41 [Scoliosis] was used to define the patient pool from ICD-10. Demographic variables, type of operations (posterior only, anterior only, or combined), and complications were documented. Incidence and prevalence values were calculated using population figures and case numbers. RESULT: There were 276,521 patients with an average incidence of 129 per 100,000. Frequency of females was 1.45 times greater than that of males (p < 0.001). A total of 10,417 surgeries were performed in 10,311 patients during the inspection period (3.8% of all cases). Posterior fusion was by far the most common surgical approach (n = 10.111; 97%) followed by anterior fusion (n = 200; 1,9%). CONCLUSIONS: Our findings reveal a significant increase in the average incidence of scoliosis diagnosis, rising from 107 per 100,000 individuals in 2015 to 161 per 100,000 in 2022. Scoliosis now impacts an estimated 1.2% of children and adolescents in Turkey. The risk is 1.45 times higher in females than in males.

Prevalence of adolescent idiopathic scoliosis in Shijiazhuang, Hebei, China: a cross-sectional study.

PURPOSE: This study is a large-scale screening supported by government departments to investigate the prevalence of scoliosis in Shijiazhuang. METHODS: In this cross-sectional study, all students underwent body posture evaluation and the Adam's forward flexure test to examine the back, and also underwent radiographic evaluation when scoliosis was suspected. RESULTS: In total, 181,935 students participated in the research, of which 289 students were diagnosed with scoliosis, with a prevalence of 2.5%, significantly higher in female (3.01%) than in male children (1.63%) (P < 0.001). Most of the patients (79.5%) had a Cobb angle from 10° to 19°.The mean Cobb angle of scoliosis was positively associated with age. The prevalence of a single curve (75.4%) was significantly higher than double curves (23.2%) and triple curves (1.38%). The percentage of scoliosis in which the thoracolumbar segment was involved (46.4%) was significantly higher than that of the single thoracic scoliosis (31.8%) and single lumbar scoliosis (21.8%). CONCLUSIONS: The prevalence of adolescent idiopathic scoliosis in XXX was high (2.50%). It is necessary to strengthen the education of adolescent scoliosis, and improve the awareness and attention of social to scoliosis. LEVEL OF EVIDENCE: IV.

Greater pelvic obliquity in adolescent idiopathic scoliosis combined with hip dysplasia.

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a spinal deformity that affects adolescents and poses a challenging public health problem. Compared to the general population, adolescents with AIS have a higher prevalence of hip dysplasia. However, the mechanisms underlying the impact of hip dysplasia on the coronal balance of the spine remain poorly understood. We hypothesized that the combination of AIS with hip dysplasia would exacerbate coronal imbalance. METHODS: We retrospectively analyzed the medical records and radiographs of adolescents diagnosed with AIS between 2015 and 2020. Participants were divided into two groups: those with hip dysplasia and those without. We recorded parameters related to the coronal deformity of the spine, sacral and pelvic obliquity, and center edge angle (CEA). We investigated differences in these parameters in those with and without hip dysplasia and analyzed their relationships in those with combined AIS and hip dysplasia. RESULTS: A total of 103 adolescents were included, 36 with hip dysplasia and 67 without. Those with hip dysplasia had significantly higher sacroiliac discrepancy (SID) compared to those without (t = - 2.438, P = 0.017). In adolescents with hip dysplasia, only iliac obliquity angle (IOA) was significantly correlated with SID (r = - 0.803, P < 0.001), with a linear relationship between them (r2 = 0.645, P < 0.001). CONCLUSIONS: The incidence of hip dysplasia is higher in the AIS population. In adolescents with combined AIS and hip dysplasia, pelvic obliquity is greater, potentially contributing to the increased prevalence of low back pain.

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.

Incidence and risk factors of distal adjacent disc degeneration in adolescent idiopathic scoliosis patients undergoing fusion surgery: a systematic review and meta-analysis.

PURPOSE: The objective of this meta-analysis was to determine the incidence of disc degeneration in patients with surgically treated adolescent idiopathic scoliosis (AIS) and identify the associated risk factors. METHODS: PubMed, EMBASE, Scopus, and Cochrane Collaboration Library databases were searched. The outcomes of interest were the incidence of disc degeneration, SRS-22, and radiological risk factors. The lower instrumented vertebra (LIV) was also evaluated. Fixed effects were used if there was no evidence of heterogeneity. Statistical analysis was performed using Review Manager. RESULTS: A meta-analysis was conducted including nine studies with a total of 565 patients. The analysis revealed that the global incidence of intervertebral disc degeneration in patients with surgically treated AIS patients was 24.78% (95% CI 16.59-32.98%) 10 years after surgery, which significantly increased to 32.32% (95% CI 21.16-43.47% at an average of 13.8 years after surgery. Among patients with significant degenerative disc changes, the SRS-22 functional, self-image, and satisfaction domains showed significantly worse results (MD - 0.25, 95% CI - 0.44 to - 0.05; MD - 0.50, 95% CI - 0.75 to - 0.25; and MD - 0.34, 95% CI - 0.66 to - 0.03, respectively). Furthermore, instrumentation at or above the L3 level was associated with a lower incidence of intervertebral disc degeneration compared to instrumentation below the L3 level (OR 0.25, 95% CI 0.10-0.64). It was also found that the preoperative and final follow-up lumbar curve magnitudes (MD 8.11, 95% CI 3.82-12.41) as well as preoperative and final follow-up lumbar lordosis (MD 0.42, 95% CI - 3.81 to 4.65) were associated with adjacent disc degeneration. CONCLUSIONS: This meta-analysis demonstrated that the incidence of intervertebral disc degeneration significantly increased with long-term follow-up using fusion techniques, reaching up to 32% when patients were 28 years of age. Incomplete correction of deformity and fusion of levels below L3, were identified as negative prognostic factors. Furthermore, patients with disc degeneration showed worse functional outcomes.

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.

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.

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 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.

Clinical Relevance of Painful Congenital Early-onset Scoliosis: A Magnetic Resonance Image-based Study.

BACKGROUND: Back pain, as a clinical marker in scoliosis, has been associated with underlying pathology for many years, warranting further magnetic resonance imaging (MRI). Failures of segmentation, mixed defects, female gender, rib anomalies, congenital thoracic anomalies, and neurocutaneous markers are known risk factors for abnormal MRI pathology findings in patients with congenital early-onset scoliosis (Congenital-EOS). Yet, back pain has not been evaluated as a risk factor for underlying MRI pathology in patients with Congenital-EOS. This study aimed to assess back pain as a risk factor for underlying pathology in Congenital-EOS using MRI as a diagnostic tool. METHODS: A retrospective database review from the Pediatric Spine Study Group (PSSG) of all patients with Congenital-EOS who reported a back pain complaint, and underwent a spinal MRI study before surgical intervention was performed. Patients were divided into those with an underlying MRI pathology and those without. Demographics were compared between groups. RESULTS: From a total of 2355 patients with Congenital-EOS registered in PSSG, 107 patients reported a back pain complaint, with only 42 patients fulfilling the inclusion criteria (being evaluated with an MRI study). Overall group mean age was 8.1±4.5 years, with 25 of the 42 patients (60%) being females. Twenty-four of 42 patients (57%) had a comorbidity reported such as cardiac problems, musculoskeletal complaints, neurological deficits/myelopathy, gastrointestinal symptoms, developmental delay, respiratory problems, craniofacial abnormalities, and chromosomal conditions. An underlying MRI pathology was found in 21 of 42 patients with Congenital-EOS (50%) with back pain. The underlying MRI pathologies found were tethered spinal cord, spinal canal stenosis, syringomyelia, Arnold-Chiari malformation, and arachnoid cyst. CONCLUSIONS: Abnormal MRI findings are common in patients with Congenital-EOS who report back pain. Gender, age, major coronal curve angle, thoracic or lumbar predominance deformity, and comorbidities type or amount were not associated with abnormal MRI findings. LEVEL OF EVIDENCE: Level II-Prognostic study.

Incidence of Tether Breakage in Anterior Vertebral Body Tethering.

BACKGROUND: Thoracic anterior vertebral body tethering (TAVBT) is an emerging treatment for adolescent idiopathic scoliosis. Tether breakage is a known complication of TAVBT with incompletely known incidence. We aim to define the incidence of tether breakage in patients with adolescent idiopathic scoliosis who undergo TAVBT. The incidence of tether breakage in TAVBT is hypothesized to be high and increase with time postoperatively. METHODS: All patients with right-sided, thoracic curves who underwent TAVBT with at least 2 and up to 3 years of radiographic follow-up were included. Tether breakage between 2 vertebrae was defined a priori as any increase in adjacent screw angle >5 degrees from the minimum over the follow-up period. The presence and timing of tether breakage were noted for each patient. A Kaplan-Meier survival analysis was performed to calculate expected tether breakage up to 36 months. χ 2 analysis was performed to examine the relationship between tether breakage and reoperations. Independent t test was used to compare the average final Cobb angle between cohorts. RESULTS: In total, 208 patients from 10 centers were included in our review. Radiographically identified tether breakage occurred in 75 patients (36%). The initial break occurred at or beyond 24 months in 66 patients (88%). Kaplan-Meier survival analysis estimated the cumulative rate of expected tether breakage to be 19% at 24 months, increasing to 50% at 36 months. Twenty-one patients (28%) with a radiographically identified tether breakage went on to require reoperation, with 9 patients (12%) requiring conversion to posterior spinal fusion. Patients with a radiographically identified tether breakage went on to require conversion to posterior spinal fusion more often than those patients without identified tether breakage (12% vs. 2%; P =0.004). The average major coronal curve angle at final follow-up was significantly larger for patients with radiographically identified tether breakage than for those without tether breakage (31 deg±12 deg vs. 26 deg±12 deg; P =0.002). CONCLUSIONS: The incidence of tether breakage in TAVBT is high, and it is expected to occur in 50% of patients by 36 months postoperatively. LEVEL OF EVIDENCE: Level IV.

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.

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.

The relationship between hip displacement, scoliosis, and pelvic obliquity in 106 nonambulatory children with cerebral palsy: a longitudinal retrospective population-based study.

BACKGROUND AND PURPOSE: The relationship between hip displacement (HD), pelvic obliquity (PO), and scoliosis in nonambulatory children with cerebral palsy (CP) has not been clearly elucidated. The aims of this population-based study were to examine the prevalence and temporal sequence of these deformities in nonambulatory children with CP and to evaluate how probable it is that severe unilateral HD contributes to development of scoliosis. PATIENTS AND METHODS: This longitudinal study comprised 106 nonambulatory children, enrolled in a surveillance program. Pelvic radiographs for measurements of migration percentage (MP) and PO were taken once a year from the diagnosis of HD. Spine radiographs were taken in patients with clinically detected scoliosis. Radiographic follow-up continued until skeletal maturity. RESULTS: Clinically significant scoliosis (Cobb angle ≥ 40°) occurred in 60 patients at a mean age of 11.8 years. 65 patients developed clinically significant HD (MP ≥ 40%) at a mean age of 4.8 years. 24 patients had no significant hip or spine deformities, 22 had HD only, 17 had scoliosis only, and 43 had both deformities. HD was diagnosed before scoliosis in all except 1 of the patients with both deformities. 14 of 19 patients with severe unilateral HD (MP ≥ 60%) had scoliosis convexity to the opposite side of the displaced hip. CONCLUSION: The combination of scoliosis and HD was frequent, and HD was diagnosed first in almost all the patients. HD might be a contributory cause of scoliosis in patients with severe, unilateral HD, PO, and later scoliosis with convexity to the opposite side.

Long-term changes in bone mineral density following adolescent idiopathic scoliosis surgery: a minimum 34-year follow-up.

PURPOSE: To investigate longitudinal changes in bone mineral density (BMD) in middle-aged female patients who underwent spinal fusion for adolescent idiopathic scoliosis (AIS). METHODS: The study subjects were 229 female patients who were diagnosed with AIS and underwent spinal fusion between 1968 and 1988. A two-step survey study was conducted on 19 female AIS patients. BMD, Z-scores, T-scores, and the prevalence of osteoporosis and osteopenia were compared between the initial (2014-2016) and second (2022) surveys. Correlations between the annual changes in Z-scores and T-scores with radiographic parameters, body mass index (BMI), and the number of remaining mobile discs were analyzed. RESULTS: BMD decreased significantly from the initial (0.802 ± 0.120 g/cm2) to the second survey (0.631 ± 0.101 g/cm2; p < 0.001). Z-scores decreased from 0.12 ± 1.09 to - 0.14 ± 1.04, while T-scores decreased significantly from - 0.70 ± 1.07 to - 1.77 ± 1.11 (p < 0.001). The prevalence of osteopenia and osteoporosis increased significantly from 36.8% to 89.5% (p = 0.002), but the increase in osteoporosis alone was not statistically significant (5.3% to 26.3%; p = 0.180). Moderate negative correlations were found between annual changes in Z-scores and both main thoracic (MT) curve (r = - 0.539; p = 0.017) and lumbar curve (r = - 0.410; p = 0.081). The annual change in T-scores showed a moderate negative correlation with the MT curve (r = - 0.411; p = 0.081). CONCLUSION: Significant reductions in BMD and an increased prevalence of osteopenia and osteoporosis were observed in middle-aged female AIS patients who had undergone spinal fusion. The decline in Z-scores in patients with AIS suggested that there was an accelerated loss of BMD compared with the general population. Larger residual curves could pose an added osteoporosis risk. Further research is needed to understand if the onset of osteoporosis in AIS patients is attributable to the condition itself or the surgical intervention.

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.

Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is the most common pediatric musculoskeletal disorder, affecting ~3% of the population worldwide. However, its genetic bases and tissues of origin remain largely unknown. Several genome-wide association studies (GWAS) have implicated nucleotide variants in non-coding sequences that control genes with important roles in cartilage, muscle, bone, connective tissue and intervertebral disks (IVDs) as drivers of AIS susceptibility. Here, we set out to define the expression of AIS-associated genes and active regulatory elements by performing RNA-seq and chromatin immunoprecipitation-sequencing against H3 lysine 27 acetylation in these tissues in mouse and human. Our study highlights genetic pathways involving AIS-associated loci that regulate chondrogenesis, IVD development and connective tissue maintenance and homeostasis. In addition, we identify thousands of putative AIS-associated regulatory elements which may orchestrate tissue-specific expression in musculoskeletal tissues of the spine. Quantification of enhancer activity of several candidate regulatory elements from our study identifies three functional enhancers carrying AIS-associated GWAS SNPs at the ADGRG6 and BNC2 loci. Our findings provide a novel genome-wide catalog of AIS-relevant genes and regulatory elements and aid in the identification of novel targets for AIS causality and treatment.

Bioinformatics analysis of paravertebral muscles atrophy in adult degenerative scoliosis.

Paravertebral muscles (PVM) act as one of the major dynamic factors to maintain human upright activities and play a remarkable role in maintaining the balance of the trunk. Adult degenerative scoliosis (ADS) has become one of the important causes of disability in the elderly population owing to the changes in spinal biomechanics, atrophy and degeneration of PVM, and imbalance of the spine. Previously, many studies focused on the physical evaluation of PVM degeneration. However, the molecular biological changes are still not completely known. In this study, we established a rat model of scoliosis and performed the proteomic analysis of the PVM of ADS. The results showed that the degree of atrophy, muscle fat deposition, and fibrosis of the PVM of rats positively correlated with the angle of scoliosis. The proteomic results showed that 177 differentially expressed proteins were present in the ADS group, which included 105 upregulated proteins and 72 downregulated proteins compared with the PVM in individuals without spinal deformities. Through the construction of a protein-protein interaction network, 18 core differentially expressed proteins were obtained, which included fibrinogen beta chain, apolipoprotein E, fibrinogen gamma chain, thrombospondin-1, integrin alpha-6, fibronectin-1, platelet factor 4, coagulation factor XIII A chain, ras-related protein Rap-1b, platelet endothelial cell adhesion molecule 1, complement C1q subcomponent subunit A, cathepsin G, myeloperoxidase, von Willebrand factor, integrin beta-1, integrin alpha-1, leukocyte surface antigen CD47, and complement C1q subcomponent subunit B. Further analysis of the Kyoto Encyclopedia of Genes and Genomes pathway (KEGG) and immunofluorescence showed that the neutrophil extracellular traps (NETs) formation signaling pathway plays a major role in the pathogenesis of PVM degeneration in ADS. The results of the present study preliminarily laid the molecular biological foundation of PVM atrophy in ADS, which will provide a new therapeutic target for alleviating PVM atrophy and decreasing the occurrence of scoliosis.

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, and various musculoskeletal disorders. Scoliosis is a common feature. The aim of this study is to fill the gap in the current knowledge about scoliosis in individuals with KdVS and to provide recommendations for management and follow-up. In total, 54 individuals with KdVS were included in the study, with a mean age of 13.6 years (range 1.9-38.8 years). Spine radiographs, MR scans, and corresponding radiology reports were analyzed retrospectively for scoliosis and additional anomalies. The presence of scoliosis-related clinical conditions was assessed in participants' medical records and by use of a parent survey. Scoliosis was present in 56% of the participants (30/54) with a mean age of onset of 10.6 years and curve progression during the growth spurt. Prevalence at age 6, 10, and 18 years was, respectively, 9%, 41%, and 65%. Most participants were diagnosed with a single curve (13/24, 54%), of which five participants had a long C-curve type scoliosis. No significant risk factors for development of scoliosis could be identified. Severity was mostly classified as mild, although 29% (7/24) of the curves were larger than 30° at last follow-up. Bracing therapy was received in 13% (7/54), and surgical spinal fusion was warranted in 6% (3/54). Remarkably, participants with scoliosis received less often physical therapy compared to participants without scoliosis (P = 0.002). Scoliosis in individuals with KdVS should be closely monitored and radiologic screening for scoliosis and vertebrae abnormalities is recommended at diagnosis of KdVS, and the age of 10 and 18 years.