ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.

Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D. We also report a possible founder variant in ECEL1 along with four novel variants and further expand the genotypic spectrum of DA5D.

Analysis of three-dimensional spine growth for vertebral body tethering patients at 2 and 5 years post operatively.

PURPOSE: Scoliosis can be treated with vertebral body tethering (VBT) as a motion-sparing procedure. However, the knowledge of how growth is affected by a tether spanning multiple levels is unclear in the literature. Three-dimensional true spine length (3D-TSL) is a validated assessment technique that accounts for the shape of the spine in both the coronal and sagittal planes. This study aimed to assess if 3D-TSL increases over a five-year period after VBT implantation in thoracic curves for idiopathic scoliosis. METHODS: Prospectively collected radiographic data from an international pediatric spine registry was analyzed. Complete radiographic data over three visits (post-operative, 2 years, and 5 years) was available for 53 patients who underwent VBT. RESULTS: The mean age at instrumentation of this cohort was 12.2 (9-15) years. The average number of vertebrae instrumented was 7.3 (SD 0.7). Maximum Cobb angles were 50° pre-op, which improved to 26° post-op (p < 0.001) and was maintained at 5 years (30°; p = 0.543). Instrumented Cobb angle was 22° at 5 years (p < 0.001 vs 5-year maximum Cobb angle). An accentuation was seen in global kyphosis from 29° pre-operative to 41° at 5 years (p < 0.05). The global spine length (T1-S1 3D-TSL) started at 40.6 cm; measured 42.8 cm at 2 years; and 44.0 cm at the final visit (all p < 0.05). At 5 years, patients reached an average T1-S1 length that is comparable to a normal population at maturity. Immediate mean post-operative instrumented 3D-TSL (top of UIV-top of LIV) was 13.8 cm two-year length was 14.3 cm; and five-year length was 14.6 cm (all p < 0.05). The mean growth of 0.09 cm per instrumented level at 2 years was approximately 50% of normal thoracic growth. Patients who grew more than 0.5 cm at 2 years had a significantly lower BMI (17.0 vs 19.0, p < 0.05) and smaller pre-operative scoliosis (48° vs 53°, p < 0.05). Other subgroup analyses were not significant for age, skeletal maturity, Cobb angles or number of spanned vertebras as contributing factors. CONCLUSIONS: This series demonstrates that 3D-TSL increased significantly over the thoracic instrumented levels after VBT surgery for idiopathic scoliosis. This represented approximately 50% of expected normal thoracic growth over 2 years.

Incidence and risk factors of proximal junctional kyphosis in adolescent idiopathic scoliosis after correction surgery: a meta-analysis and systematic review.

AIM: To analyze the risk factors of proximal junctional kyphosis (PJK) after correction surgery in patients with adolescent idiopathic scoliosis (AIS). METHODS: PubMed, Medline, Embase, Cochrane Library, Web of Science, CNKI, and EMCC databases were searched for retrospective studies utilizing all AIS patients with PJK after corrective surgery to collect preoperative, postoperative, and follow-up imaging parameters, including thoracic kyphosis (TK), lumbar lordosis (LL), proximal junctional angle (PJA), the sagittal vertical axis (SVA), pelvic incidence (PI), pelvic tilt (PT), pelvic incidence-lumbar lordosis (PI-LL), sacral slope (SS), rod contour angle (RCA) and upper instrumented vertebra (UIV). RESULTS: Nineteen retrospective studies were included in this meta-analysis, including 550 patients in the intervention group and 3456 patients in the control group. Overall, sex (OR 1.40, 95% CI (1.08, 1.83), P = 0.01), larger preoperative TK (WMD 6.82, 95% CI (5.48, 8.16), P < 0.00001), larger follow-up TK (WMD 8.96, 95% CI (5.62, 12.30), P < 0.00001), larger postoperative LL (WMD 2.31, 95% CI (0.91, 3.71), P = 0.001), larger follow-up LL (WMD 2.51, 95% CI (1.19, 3.84), P = 0.0002), great change in LL (WMD - 2.72, 95% CI (- 4.69, - 0.76), P = 0.006), larger postoperative PJA (WMD 4.94, 95% CI (3.62, 6.26), P < 0.00001), larger follow-up PJA (WMD 13.39, 95% CI (11.09, 15.69), P < 0.00001), larger postoperative PI-LL (WMD - 9.57, 95% CI (- 17.42, - 1.71), P = 0.02), larger follow-up PI-LL (WMD - 12.62, 95% CI (- 17.62, - 7.62), P < 0.00001), larger preoperative SVA (WMD 0.73, 95% CI (0.26, 1.19), P = 0.002), larger preoperative SS (WMD - 3.43, 95% CI (- 4.71, - 2.14), P < 0.00001), RCA (WMD 1.66, 95% CI (0.48, 2.84), P = 0.006) were identified as risk factors for PJK in patients with AIS. For patients with Lenke 5 AIS, larger preoperative TK (WMD 7.85, 95% CI (5.69, 10.00), P < 0.00001), larger postoperative TK (WMD 9.66, 95% CI (1.06, 18.26), P = 0.03, larger follow-up TK (WMD 11.92, 95% CI (6.99, 16.86), P < 0.00001, larger preoperative PJA (WMD 0.72, 95% CI (0.03, 1.41), P = 0.04, larger postoperative PJA (WMD 5.54, 95% CI (3.57, 7.52), P < 0.00001), larger follow-up PJA (WMD 12.42, 95% CI 9.24, 15.60), P < 0.00001, larger follow-up SVA (WMD 0.07, 95% CI (- 0.46, 0.60), P = 0.04), larger preoperative PT (WMD - 3.04, 95% CI (- 5.27, - 0.81), P = 0.008, larger follow-up PT (WMD - 3.69, 95% CI (- 6.66, - 0.72), P = 0.02) were identified as risk factors for PJK. CONCLUSION: Following corrective surgery, 19% of AIS patients experienced PJK, with Lenke 5 contributing to 25%. Prior and post-op measurements play significant roles in predicting PJK occurrence; thus, meticulous, personalized preoperative planning is crucial. This includes considering individualized treatments based on the Lenke classification as our future evaluation standard.

Predicting delayed extubation and transfer to the intensive care unit in children undergoing posterior fusion surgery for scoliosis : A retrospective observational study.

BACKGROUND: Delayed extubation and transfer to the intensive care unit (ICU) in children undergoing major scoliosis surgery may increase postoperative complications, prolong hospital stay, and increase medical expenses; however, whether a child will require delayed extubation or transfer to the ICU after scoliosis orthopedic surgery is not fully understood. In this study, we reviewed the risk factors for delayed extubation and transfer to the ICU after scoliosis orthopedic surgery in children. METHOD: The electronic medical records of pediatric patients (≤ 18 years) who underwent posterior spinal fusion surgery between January 2018 and November 2021 were reviewed and analyzed. Patient characteristics (age, sex, body mass index, American Society of Anesthesiologists, ASA, grade, preoperative lung function, and congenital heart disease), preoperative Cobb angle, scoliosis type, correction rate, vertebral fusion segments, pedicle screws, surgical osteotomy, intraoperative bleeding, intraoperative allogeneic transfusion, intraoperative hemoglobin changes, intraoperative mean arterial pressure changes, intraoperative tidal volume (ml/kg predicted body weight), surgical time, postoperative extubation, and transfer to the ICU were collected. The primary outcomes were delayed extubation and transfer to the ICU. Multivariate logistic regression models were used to determine the risk factors for delayed extubation and ICU transfer. RESULTS: A total of 246 children who satisfied the inclusion criteria were enrolled in this study, of whom 23 (9.3%) had delayed extubation and 81 (32.9%) were transferred to the ICU after surgery. High ASA grade (odds ratio [OR] 5.42; 95% confidence interval [CI] 1.49-19.78; p = 0.010), high Cobb angle (OR 1.04; 95% CI 1.02-1.07; p < 0.001), moderate to severe pulmonary dysfunction (OR 10.9; 95% CI 2.00-59.08; p = 0.006) and prolonged surgical time (OR 1.01; 95% CI 1.00-1.03; p = 0.040) were risk factors for delayed extubation. A high Cobb angle (OR 1.02; 95% CI 1.01-1.04; p = 0.004), high intraoperative bleeding volume (OR 1.06; 95% CI 1.03-1.10; p = 0.001), allogeneic transfusion (OR 3.30; 95% CI 1.24-8.83; p = 0.017) and neuromuscular scoliosis (OR 5.38; 95% CI 1.59-18.25; p = 0.007) were risk factors for transfer to the ICU. A high Cobb angle was a risk factor for both delayed extubation and ICU transfer. Age, sex, body mass index, number of vertebral fusion segments, correction rate, and intraoperative tidal volume were not associated with delayed postoperative extubation and ICU transfer. CONCLUSION: The most common risk factor for delayed extubation and ICU transfer in pediatric patients who underwent posterior spinal fusion was a high Cobb angle. Determining risk factors for a poor prognosis may help optimize perioperative respiratory management strategies and planning of postoperative care for children undergoing complicated spinal surgery.

A survey of practice in the anesthetic management of adolescent idiopathic scoliosis spine fusion by the North American Pediatric Spine Anesthesiologists Collaborative.

BACKGROUND: Adolescent Idiopathic Scoliosis (AIS) affects 2%-4% of the general pediatric population. While surgical correction remains one of the most common orthopedic procedures performed in pediatrics, limited consensus exists on the perioperative anesthetic management. AIMS: To examine the current state of anesthetic management of typical AIS spine fusions at institutions which have a dedicated pediatric orthopedic spine surgeon. METHODS: A web-based survey was sent to all members of the North American Pediatric Spine Anesthesiologists (NAPSA) Collaborative. This group included 34 anesthesiologists at 19 different institutions, each of whom has a Harms Study Group surgeon performing spine fusions at their hospital. RESULTS: Thirty-one of 34 (91.2%) anesthesiologists completed the survey, with a missing response rate from 0% to 16.1% depending on the question. Most anesthesia practices (77.4%; 95% confidence interval [CI], 67.7-93.4) do not have patients come for a preoperative visit prior to the day of surgery. Intravenous induction was the preferred method (74.2%; 95% CI 61.3-89.9), with the majority utilizing two peripheral IVs (93.5%; 95% CI 90.3-100) and an arterial line (100%; 95% CI 88.8-100). Paralytic administration for intubation and/or exposure was divided (51.6% rocuronium/vecuronium, 45.2% no paralytic, and 3.2% succinylcholine) amongst respondents. While tranexamic acid was consistently utilized for reducing blood loss, dosing regimens varied. When faced with neuromonitoring signal issues, 67.7% employ a formal protocol. Most anesthesiologists (93.5%; 95% CI 78.6-99.2) extubate immediately postoperatively with patients admitted to an inpatient floor bed (77.4%; 95% CI 67.7-93.3). CONCLUSION: Most anesthesiologists (87.1%; 95% CI 80.6-99.9) report the use of some form of an anesthesia-based protocol for AIS fusions, but our survey results show there is considerable variation in all aspects of perioperative care. Areas of agreement on management comprise the typical vascular access required, utilization of tranexamic acid, immediate extubation, and disposition to a floor bed. By recognizing the diversity of anesthetic care, we can develop areas of research and improve the perioperative management of AIS.

Risk factors for neurophysiological events related to intraoperative halo-femoral traction in spinal deformity surgery.

PURPOSE: This study identifies risk factors for neurophysiological events caused by intraoperative halo-femoral traction (IOHFT) in patients with adolescent idiopathic scoliosis (AIS), and neuromuscular scoliosis (NMS). METHODS: Neurophysiological integrity was monitored using motor evoked potentials (MEPs). IONM event was defined as a decreased MEP amplitude of more than 80% of baseline in, at least, one muscle. Time between application of IOHFT and event, affected muscles, surgical stage, and time between removal of IOHFT and recovery of MEPs were described. Characteristics (age, height, weight, diagnosis, Cobb angle, and flexibility of the curve) of patients with and without IOHFT-events were compared using analysis of variance. Binary logistic regression analyses were performed to identify predictors. RESULTS: The study included 81 patients (age 15.6 ± 2.4 years, 53 females, AIS: n = 47, NMS n = 34). IOHFT-events occurred in 11 patients (13%; AIS n = 4, NMS n = 7). IOHFTevents affecting all limbs occurred pre-incision in NMS. Events affecting only the legs occurred during all stages of surgery. Patients with IOHFT-events were smaller (p = 0.009) and had stiffer curves (p = 0.046). Height was a predictor (odds ratio, 0.941; 95% confidence interval = 0.896-0.988). All MEPs recovered after removing IOHFT. CONCLUSION: Neurophysiologic events due to IOHFT were common, with the majority in patients with NMS. A shorter stature was a risk factor, and larger Cobb angle and stiffer curve were associated with IOHFT-events. Events occurred at any stage of surgery and involved upper and lower limbs. With an adequate response on IOHFT events, none of the patients had postoperative neurological impairments due to IOHFT.

Three-dimensional vertebral shape changes confirm growth modulation after anterior vertebral body tethering for idiopathic scoliosis.

PURPOSE: To evaluate three-dimensional (3D) vertebra and disk shape changes over 2 years following anterior vertebral body tether (AVBT) placement in patients with idiopathic scoliosis (IS). METHODS: Patients with right thoracic IS treated with AVBT were retrospectively evaluated. 3D reconstructions were created from biplanar radiographs. Vertebral body and disk height (anterior, posterior, left and right) and shape (wedging angle) were recorded over the three apical segments in the local vertebral reference planes. Changes in height and wedging were measured through 2 years postoperatively. Change in patient height was correlated with changes in the spine dimensions. RESULTS: Forty-nine patients (Risser 0-3, Sanders 2-4) were included. The mean age was 12.2 ± 1.4 years (range 8-14). The mean coronal curve was 51 ± 10° preoperatively, 31 ± 9° at first postoperative time point and 27 ± 11° at 2-year follow-up (p < 0.001). The mean patient height increased 8 cm by 2 years (p < 0.001). The left side of the spine (vertebra + disc) grew in height by 2.2 mm/level versus 0.7 mm/level on the right side (p < 0.001). This differential growth was composed of 0.5 mm/vertebral level and 1.0 mm/disk level. Evaluation of the change in disk heights showed significantly decreased height anteriorly (- 0.4 mm), posteriorly (- 0.3 mm) and on the right (- 0.5 mm) from FE to 2 years. Coronal wedging reduced 2.3°/level with 1.1°/vertebral level change and 1.2°/disk level. There was no differential growth in the sagittal plane (anterior/posterior height). Patient height change moderately correlated with 3D measures of vertebra + disk shape changes. CONCLUSIONS: Three-dimensional analysis confirms AVBT in skeletally immature patients results in asymmetric growth of the apical spine segments. The left (untethered) side length increased more than 3 × than the right (tethered) side length with differential effects observed within the vertebral bodies and disks, each correlating with overall patient height change.

Reliability and validity of the adapted Finnish version of the early onset scoliosis questionnaire (EOSQ-24).

BACKGROUND: EOSQ-24 is a disease specific patient-reported outcome score used to assess the quality of life in patients with early-onset scoliosis. The aim of this study was to translate and cross-culturally adapt the English version of the EOSQ-24 to Finnish language and to assess the reliability and validity of the translation. METHODS: Cross-cultural adaptation and cross-cultural validation were performed to the Finnish translation of the EOSQ-24. Patients and/or their caretakers were then recruited to assess the psychometric properties of the translation. We assessed the internal consistency, test-retest reliability, floor and ceiling effects, and discriminative abilities. One-hundred-and-three patients filled the questionnaire. RESULTS: EOSQ-24 was successfully translated into Finnish. The translation showed excellent internal consistency (Cronbach alpha 0.94), satisfactory item-total correlations ranging from 0.6 to 0.9, and moderate to strong inter item correlations. Test-retest reliability ranged from 0.7 to 0.96 indicating good to excellent agreement. Patients with neuromuscular and syndromic scoliosis reported lower EOSQ-24 scores when compared to patients' idiopathic and congenital scoliosis. There was a significant negative correlation between major curve and EOSQ-24 scores in patients with idiopathic early onset scoliosis. CONCLUSION: The internal consistency and test-retest reliability of the measure were found to be satisfactory. A marked ceiling effect was observed, indicating a potential source of error.

Thoracic Musculoskeletal Deformities Following Surgical Treatment of Esophageal Atresia - Thoracoscopic Versus Open Approach: A Retrospective Two Centers Cohort Study.

INTRODUCTION: Thoracic musculoskeletal deformities are significant complications following open correction of esophageal atresia (EA) during long-term follow-up. We aimed to compare the frequency and severity of thoracic musculoskeletal deformities after open and thoracoscopic repair of EA. We hypothesized that fewer deformities would occur following the less invasive thoracoscopic approach. METHODS: This retrospective study analyzed patients treated at two pediatric surgery departments in Poland between 2005 and 2021. The patient groups differed in surgical approach, operative techniques, indications for multi-staged surgery, and postoperative complications. The study encompassed all types of EA/TEF. The first group comprised 68 patients who underwent thoracoscopic esophageal atresia repair (Wroclaw), while the second group involved 44 patients who underwent open repair (Warsaw). Clinical data were retrospectively reviewed, with results considered significant at p < 0.05. RESULTS: The median age at examination was 6 years in the thoracoscopy group and 5.5 years in the thoracotomy group. In the thoracoscopy group, 53 out of 68 patients (77.9%) and in the thoracotomy group - 35 out of 44 patients (79.5%) were treated in one stage. The incidence of thoracic musculoskeletal deformities was significantly lower in the thoracoscopy group (1.5%) compared to the thoracotomy group (34.1%, p < 0.001). Scoliosis occurred significantly more often after thoracotomy (13.6% vs 1.5%, p = 0.016). There was no rib fusion (0% vs 37.1%, p < 0.001) and no scoliosis of =>20° (0% vs 6.8%, p = 0.058) after thoracoscopy. The coincidence of rib fusion and scoliosis was significant (9.1%, p = 0.022) for the open approach. In the thoracotomy group, multi-staged surgery and more frequent reoperations due to major complications were significantly associated with an increased occurrence of deformities. None of the patients after thoracoscopic multi-stage or complicated EA/TEF repair developed scoliosis. CONCLUSIONS: The frequency and severity of thoracic musculoskeletal deformities were significantly lower after the thoracoscopic approach. Thoracoscopy may be a more advantageous and preferred surgical approach for the EA/TEF treatment, although further randomized, controlled studies are necessary. Post-thoracotomy scoliosis may progress to a severity requiring surgery.

A comparison of idiopathic scoliosis surgery between teenage years and adulthood.

PURPOSE: Idiopathic scoliosis is an evolutive deformity during patient's life. In case of moderate deformity in a well aligned adolescent, it's a big concern to decide when to do the surgery. Objective of this work was to evaluate and compare clinical, radiological and surgical data of patients with adolescent idiopathic scoliosis operated in childhood (before 20 years) and those operated adults (after 35 years). METHODS: In this retrospective multicenter study, inclusion period extended from 2008 to 2018. Two groups were defined, those operated on before the age of 20 (YAIS), and those operated on after 35 years (OAIS). Demographic, radiographic and surgical data were collected. At follow-up, radiographic data and functional outcomes (VAS, SRS, SF12, Oswestry) were analyzed. Minimum FU was 5 years for young and 2 years for old patients. RESULTS: YAIS group included 364 patients, and OAIS group, 131 patients. In both groups, deformity was important (mean Cobb 63°). Vertebral osteotomies were significantly more frequent, fusions and length of stays were longer for old than young patients. Main Cobb correction was better in young than old (37 ± 10° vs 2 ± 13°, p = 0.03). Functional outcomes were better for young, operated patients than for operated groups after 35 years (SF12 PCS 50 ± 7 vs 39 ± 6, p = 0.02). The same trends were observed at longer follow-up. CONCLUSION: Surgery for idiopathic scoliosis seems to offer a better quality of life and deformity correction when it is performed at adolescence. After 35 years, surgery remains an acceptable therapeutic option, despite higher complication rate.

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer (DCC) gene. Case Presentation: We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform. Genetic analysis revealed a novel DCC c.(?_1912)_(2359_?)dup, p.(Ser788Tyrfs*4) variant segregating recessively in the family. This type of variant has not been described previously in the HGPPS2 patients. To date, including the case reported here, three different homozygous pathogenic frameshift variants, one homozygous missense variant, and an intragenic duplication in the DCC gene have been reported in 8 patients with the HGPPS2 syndrome. Conclusion: The analysis of duplications and deletions in the DCC should be included in the routine genetic diagnostic evaluation of patients with suspected HGPPS2. This report expands the knowledge of phenotypic and genotypic spectrum of pathogenic variants causing HGPPS2.

Caregiver perspectives of scoliosis surgery for children with cerebral palsy: a qualitative study.

PURPOSE: To explore the perspectives of primary caregivers of children with cerebral palsy (CP) who had spinal surgery for scoliosis. MATERIALS AND METHODS: A qualitative study was conducted using semi-structured interviews and guided by qualitative description methodology. Participants were caregivers of children with CP aged 5-18, who had undergone spinal surgery for scoliosis in Australia. The research team included a parent with lived experience. RESULTS: Fourteen participants (8 biological mothers), aged 40-49 years, completed online semi-structured interviews. Four themes were identified emerged. Life with a child with CP underpinned all experiences which were founded on familiarity with their child, medical procedures, and hospitalisation. Three subthemes were parents are the experts in knowing their child, children are vulnerable, and impact on caregivers. Theme 2 involved the significance of decision making to proceed with surgery. Theme 3 underscored a need to be prepared for the surgical journey and, in Theme 4, participants spoke of needing to expect the unexpected. CONCLUSION: The findings highlight the importance of understanding caregiver experiences and can help inform health professionals and other families in the decision-making process, preparing for and navigating spinal surgery.

Spinal surgery for scoliosis in children with cerebral palsy is a major surgery and poses substantial challenges for the family.Understanding the magnitude of the decision for families to proceed with surgery will equip health professionals to adequately support and partner with families.Detailed information and extensive preparation are necessary for families to proceed with and navigate surgery, the hospital stay and to return home and to the community.

Breaking the "law of diminishing returns" with novel, staged, unilateral magnetically controlled growing rods to guided growth surgery for severe, progressive infantile scoliosis.

PURPOSE: Infantile scoliosis presents a significant challenge due to high risk of pulmonary complications and morbidity. While dual growing rod constructs are often utilized, they are not always feasible in a young patient with a severe curve. In this study, we present a series of eight patients treated with a unilateral magnetically controlled growing rod (uMCGR) construct later converted to guided growth surgery (GGS). METHODS: A multicenter database was queried for patients with progressive infantile scoliosis treated with uMCGR before later conversion to GGS. A minimum of 2 year follow-up was required for inclusion. Curve magnitude, trunk growth, revisions, and complications were tracked at all time points. RESULTS: Eight patients were included in the study. Mean age at index surgery was 4.1 years, while conversion to GGS occurred at average 7.9 years and final follow-up was at 10.5 years of age. At index procedure, major curve averaged 77.1°, which improved to 45.4°. Major curve increased to 48.4° prior to conversion, then improved to 30.9°. Major curve averaged 36.8° at final follow-up, for a maintained curve correction of 52.3%. T1-12 height and T1-S1 height averaged 15.4 and 21.5 cm at index procedure and increased to 20.6 and 32.7 cm at final follow-up. Nine revisions were performed in 6 patients, and no patient showed evidence of premature fusion. CONCLUSIONS: Treatment of severe progression infantile scoliosis with this staged protocol provided excellent curve correction with continued trunk growth through treatment, without evidence of the "Law of Diminishing Returns".

Scoliosis and rare diseases: our experience with the Prader-Willi syndrome.

INTRODUCTION: Prader-Willi syndrome (PWS) represents a difficult challenge for spine surgeons, due to the association of a structural scoliosis, with a prevalence between 15 and 86%. Conservative therapy is a viable option, but surgery is increasingly becoming the treatment of choice. METHODS: The authors reviewed a series of 15 patients affected by PWS treated at their institution between 2008 and 2023. The mean age at index treatment was 9 years and 3 months (range 1-15 years) with a prevalence of female subjects. Primary scoliotic curve ranged from 14 to 102°, and mean thoracic kyphosis was 56° (range 20-75°). Eleven patients underwent conservative treatment, while four were treated surgically. RESULTS: Mean follow-up was 5 years and 3 months (range 2-12 years). Among the 11 patients treated conservatively, only two showed improvements of the coronal curve, while the remaining nine displayed a worsening of the deformity during follow-up. Complication rate after surgery was 75%. One patient developed paraplegia after pedicle screw positioning. One patient displayed rod breakage and PJK that required revision surgery proximally. Hardware deep infection was seen in one case where it was necessary to proceed with instrumentation removal after 10 years. DISCUSSION AND CONCLUSIONS: Spine surgery represents a convincing option in patients affected by PWS, but the risks of complications are high. Correct patient selection must be the main objective, and multilevel pedicle screw fixation should be the procedure of choice. Traditional growing rod should be prudently evaluated in every single case.

Elevated periodic limb movement index is associated with hypoxemia in children with early onset scoliosis.

PURPOSE: Patients with early onset scoliosis are at high risk of sleep disordered breathing, sleep disruption, and adverse consequences of poor sleep. In this study, we aim to assess the prevalence of periodic limb movements of sleep in a cohort of children with early onset scoliosis and identify factors that correlate with the presence of periodic limb movements. METHODS: This is a retrospective chart review of 40 patients with EOS (ages 1-17 years) who underwent a PSG from 2003 through 2019. Data collected included age, sex, and polysomnography parameters. Descriptive statistics were used: independent T test and Pearson correlation. RESULTS: The average age was 9.6 years (SD 5.2); 22 were female. Eleven patients (27.5%) had elevated periodic limb movement index (PLMI) (≥ 5). Those with PLMI ≥ 5 had arousal index of 15.4 (SD 7.2) and those with normal PLMI having an arousal index of 9.4 (SD 4.9); this reached statistical significance (p < 0.05). Those with elevated PLMI spent 4.9 (SD 8.3) minutes with saturations below 88%, while those with normal PLMI spent 1.0 (SD 1.8); this was statistically significant. There was a moderate positive correlation between arousal index, hypoxemia, and PLMI. CONCLUSION: The study suggests that children with early onset scoliosis have higher frequency of periodic limb movements during sleep, and these may be correlated with increased arousal and with hypoxemia.

[Application of Deep Learning to Diagnose and Classify Adolescent Idiopathic Scoliosis].

A deep learning-based model for automatic diagnosis and classification of adolescent idiopathic scoliosis has been constructed. This model mainly included key points detection and Cobb angle measurement. 748 full-length standing spinal X-ray images were retrospectively collected, of which 602 images were used to train and validate the model, and 146 images were used to test the model performance. The results showed that the model had good diagnostic and classification performance, with an accuracy of 94.5%. Compared with experts' measurement, 94.9% of its Cobb angle measurement results were within the clinically acceptable range. The average absolute difference was 2.1°, and the consistency was also excellent (r2≥0.9552, P<0.001). In the future, this model could be applied clinically to improve doctors' diagnostic efficiency.

Diagnostic and therapeutic strategies in early onset scoliosis: A current concept review.

Substantial advances in the treatment of early onset scoliosis (EOS) over the past two to three decades have resulted in significant improvements in health-related quality of life of affected children. In addition to classifications that address the marked heterogeneity of this patient population, increasing understanding of the natural history of the disease, and new implants and treatment techniques have resulted in innovations unlike any other area of pediatric orthopedics. The growing understanding of the interaction between spinal and thoracic growth, as well as dependent lung maturation, has had a lasting impact on the treatment strategy of this potentially life-threatening disease. The previous treatment approach with early corrective fusion gave way to a growth-friendly concept. Despite the steady development of new growth-friendly surgical treatment options, whose efficacy still needs to be validated, as well as a revival of conservative growth control with serial casts and/or braces, the psychosocial burden of the long lasting and complication-prone treatments remains high. As a consequence, EOS still represents one of the greatest pediatric orthopedic challenges.

Does the addition of convex uniplanar screws in hybrid constructs improve 3D surgical correction in thoracic adolescent idiopathic scoliosis posterior fusion?

Purpose: Hybrid techniques using thoracic sublaminar bands have proved their efficacy in adolescent idiopathic scoliosis posterior fusion, but clinical axial correction sometimes remained disappointing. One solution found was "the frame technique" and the second alternative was the replacement of the convex sublaminar bands by periapical uniplanar screws. The goal of this study was to compare clinical and radiological outcomes of both techniques in a consecutive cohort of adolescent idiopathic scoliosis patients. Methods: All patients undergoing primary posterior fusion for thoracic adolescent idiopathic scoliosis between January 2017 and March 2020 were included. Two groups were compared: Group 1 with thoracic sublaminar bands only and Group 2 with periapical uniplanar screws. All patients underwent standing stereoradiographs. The main frontal, sagittal, and axial (apical vertebra rotation) radiological parameters of interest were analyzed. Functional outcomes were assessed using the Scoliosis Research Society 30 score. Results: A total of 147 adolescents were included (Group 1, n = 73 and Group 2, n = 74 patients). In the frontal plane, a greater reduction index was observed in Group 2 (68% versus 62%, p < 0.001) as well as a better apical axial correction (67.8% versus 46.6%, p = 0.03). The number of thoracoplasty performed was reduced (6.7% versus 20.5%, p = 0.02) in Group 2, with a significant decrease in the rate of mechanical complication. No significant loss of correction was observed during follow-up in any of the group. Conclusion: The adjunction of convex uniplanar screws at the periapical levels improved the three-dimensional surgical correction of thoracic adolescent idiopathic scoliosis treated with hybrid constructs. Level of evidence: level III, retrospective comparative study.

Neck and shoulder pain in thoracic adolescent idiopathic scoliosis 10 years after posterior spinal fusion.

PURPOSE: We aimed to determine the clinical significance of neck and shoulder pain (NSP) 10 years after posterior spinal fusion (PSF) for thoracic adolescent idiopathic scoliosis (AIS) and the relationship between radiographic parameters and NSP. METHODS: Of 72 patients who underwent PSF for thoracic AIS (Lenke 1 or 2) between 2000 and 2013, we included 52 (46 females; Lenke type 1 in 34 patients and type 2 in 18; mean age, 25.6 years) who underwent NSP evaluation using visual analog scale (VAS, 10 cm) 10 years postoperatively (follow-up rate, 72.2%). Correlation analyses were performed using Spearman's rank correlation coefficient (r). RESULTS: The VAS for NSP was 2.6 cm in median and 3.4 cm in mean at 10 years. The VAS had significant negative correlations with several SRS-22 domain scores (rs = - 0.348 for pain, - 0.347 for function, - 0.308 for mental health, and - 0.372 for total) (p < 0.05). In addition, the VAS score was significantly correlated with cervical lordosis (CL) (rs = 0.296), lumbar lordosis (rs = - 0.299), and sacral slope (rs = 0.362) (p < 0.05). Furthermore, at the 10-year follow-up, CL was significantly negatively correlated with T1 slope (rs = - 0.763) and thoracic kyphosis (TK) (- 0.554 for T1-12 and - 0.344 for T5-12) (p < 0.02). CONCLUSION: NSP was associated with deterioration in SRS-22 scores, indicating that NSP is a clinically significant long-term issue in PSF for thoracic AIS. Restoring or maintaining the TK and T1 slopes, which are controllable factors during PSF, may improve cervical lordosis and alleviate NSP at 10-year follow-up.