Actuator Size of Magnetic Controlled Growth Rod (7 cm vs. 9 cm) is Not Predictive of Unplanned Return to the Operating Room: A Retrospective Multicenter Comparative Cohort Study.

Background: Magnetic controlled growth rods (MCGR) are the most common type of implant used for operative treatment of patients with early-onset scoliosis (EOS). Rods can have either a 7-cm actuator, allowing 2.8 cm of potential expansion, or a 9-cm actuator which allows 4.

Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.

Case: We describe treatment of severe multilevel congenital thoracic fusion in a 3-year-old girl with Apert Syndrome by posterior element excision, posterior column osteotomies, and gradual distraction with magnetically controlled growing rods (MCGR) with 3-year follow-up. We also describe short-term follow-up with similar management in an 8-year-old patient with a congenitally fused thoracic spine from Jarcho-Levin syndrome.

Conclusion: Posterior element resection and targeted posterior column osteotomies combined with gradual distraction with MCGR offers a promising treatment course for children with severe thoracic insufficiency syndrome derived from congenital fusions.

Outcomes after completing growth-friendly surgical treatment for early-onset scoliosis in patients with skeletal dysplasia.

Aims: The aim of this study was to compare outcomes after growth-friendly treatment for early-onset scoliosis (EOS) between patients with skeletal dysplasias versus those with other syndromes.

Methods: We retrospectively identified 20 patients with skeletal dysplasias and 292 with other syndromes (control group) who had completed surgical growth-friendly EOS treatment between 1 January 2000 and 31 December 2018. We compared radiological parameters, complications, and health-related quality of life (HRQoL) at mean follow-up of 8.

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019-April 2022). Median (range) age was 8 (0-90) years, 70.

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.

Paediatric syndromic scoliosis: proceedings of the half-day course at the 57th annual meeting of the Scoliosis Research Society.

There are some syndromes that present with unique manifestations pertaining to the spinal column. A good working understanding of these common syndromes is useful for the spinal deformity surgeons and related healthcare providers. This review attempts to encompass these unique features and discuss them in three broad groups: hypermobility syndromes, muscle pathology-related syndromes, and syndromes related to poor bone quality.

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Introduction: Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. Sharing early prescribing experiences across different regions could provide a framework for developing practical guidance for the real-world use of vosoritide.

Methods: Two meetings were held to gather insight and early experience from experts in Europe, the Middle East, and the USA.

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.

Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and efficacy of TransCon CNP in children with achondroplasia.

Methods: ACcomplisH is a global, randomised, double-blind, placebo-controlled, dose-escalation trial.

Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy.

Background: Spinal conditions, such as scoliosis and spinal tumors, are prevalent in neurofibromatosis type 1 (NF1). Despite the recognized importance of their early detection and treatment, there remain knowledge gaps in how to approach these manifestations. The purpose of this study was to utilize the experience of a multidisciplinary committee of experts to establish consensus-based best practice guidelines (BPGs) for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric patients with NF1.

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.

The mucopolysaccharidosis (MPS) disorders have many potential new therapies on the horizon. Thus, historic control data on disease progression and variability are urgently needed. We conducted a 10-year prospective observational study of 55 children with MPS IH (N = 23), MPS IA (N = 10), non-neuronopathic MPS II (N = 13), and MPS VI (N = 9) to systematically evaluate bone and joint disease.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Purpose: This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.

Methods: In this prospective, observational study, participants (≤17 years) underwent a detailed medical history and physical examination and were followed every 3 months until they finished participating in the study by enrolling in an interventional trial or withdrawing.

Results: A total of 363 children were enrolled (28 centers, 8 countries).

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Background: Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 extension studies showed effects on growth and body proportions. However, there are currently no long-term data available on the direct impact on endpoints such as medical complications and health-related quality of life (HRQoL).

Connective Tissue Disease Patients Maintain Greater Distraction During Growth Friendly Surgery.

Study Design: Multicenter retrospective study.

Background: Recent studies have demonstrated diminishing returns in patients with early onset scoliosis (EOS) undergoing repeated lengthening of growing rods. Little is known about whether this same phenomenon occurs in patients with lax connective tissue disease (CTD).

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.

Neurosurgical patients with genetic syndromes often receive care from multidisciplinary teams. Successful models range from multiple providers in one clinic space seeing a patient together to specialists located at different institutions working together. Collaboration and bidirectional communication are key.

The Impact of Unplanned Return to the Operating Room on Health-related Quality of Life at the End of Growth-friendly Surgical Treatment for Early-onset Scoliosis.

Background: Limiting complications, especially unplanned return to the operating room (UPROR), is a major focus in the surgical management of early-onset scoliosis (EOS). Although UPROR remains common in this population, its effect on long-term health-related quality of life (HRQoL) remains unclear. The purpose of this study was to investigate the association between UPROR and end-of-treatment HRQoL in EOS patients treated with growth-friendly instrumentation.

The pediatric "Spine at Risk" program: 9-year review of a novel safety screening tool.

Purpose: We implemented an EMR-based "Spine at Risk" (SAR) alert program in 2011 to identify pediatric patients at risk for intraoperative spinal cord injury (SCI) and prompt an evaluation for peri-operative recommendations prior to anesthetic. SAR alerts were activated upon documentation of a qualifying ICD-9/10 diagnosis or manually entered by providers. We aimed to determine the frequency of recommended precautions for those auto-flagged by diagnosis versus by provider, the frequency of precautions, and whether the program prevented SCIs during non-spinal surgery.

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

Purpose: Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in development for the treatment of achondroplasia. This phase 3 extension study was conducted to document the efficacy and safety of continuous, daily vosoritide treatment in children with achondroplasia, and the two-year results are reported.

Low Preoperative Lung Functions in Children With Early Onset Scoliosis Predict Postoperative Length of Stay.

Introduction: Children with early onset scoliosis (EOS) undergoing spine surgery often have significant respiratory disease. Preoperative risk assessments that predict an increased length of hospital stay (LOS) for this group have not been previously evaluated.

Methods: A voluntary protocol using preoperative lung function studies began among participants of a multicenter registry in 2016.

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

Background: Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making.

Methods: Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients.

Results: After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting.

Classifying vertebral artery anatomy abnormality in children with skeletal dysplasia.

Purpose: Skeletal dysplasia (SKD) have predictably abnormal occipitocervical skeletal anatomy, but a similar understanding of their vertebral artery anatomy is not known. Knowledge and classification of vertebral artery anatomy in SKD patients is important for safe surgical planning. We aimed to determine if predictably abnormal vertebral artery anatomy exists in pediatric SKD.

Intraoperative Neurological Monitoring in Lower Limb Surgery for Patients With Mucopolysaccharidoses.

Background: There are reports of spinal cord injury (SCI) occurring after lower extremity (LE) surgery in children with mucopolysaccharidoses (MPS). Intraoperative neurological monitoring (IONM) has been adopted in some centers to assess real-time spinal cord function during these procedures. The aim of this investigation was to review 3 specialty centers' experiences with MPS patients undergoing LE surgery.