Gómez, Jaime A.

Purpose: To quantify the prevalence of neural axial abnormalities in congenital early-onset scoliosis (C-EOS) patients stratified by age group, correlate prevalence of treatment, and determine if a delay in MRIs affects outcomes. Methods: A multicenter registry with data on 751 C-EOS patients was retrospectively reviewed, of which 659 patients were included. Data included demographics, pre-index major coronal curve, age at first MRI, intraspinal MRI findings, neurosurgical interventions and scoliosis fixation performed, intraoperative and postoperative complications, and unplanned return to the operating room (UPROR) for orthopaedic complications. Patients were divided into 2 cohorts utilizing age 3 as a cutoff. This age cutoff was selected based on an FDA warning of the potential neurocognitive effects of anesthesia used for MRIs in patients younger than 3 years. Spearman Rho correlations, independent t tests, and χ 2 tests were used for statistical analysis. Results: Patients were divided into 2 groups: first MRI younger than or equal to 3 years of age (n=277) and older than 3 years of age (n=382). One hundred thirty-three abnormal MRIs were identified (20%). There was no significant correlation between age at MRI and abnormal intraspinal findings (rs= −0.018, P =0.64). Among patients with abnormal MRIs, no correlation existed between age at MRI and UPROR. In this cohort, 23 neurosurgical procedures were performed and no significant difference was found in UPROR between groups ( P =0.54). There were 3 neurologic complications in the younger than or equal to 3-year group and 0 in the older than 3-year group ( P =0.07). No significant difference was found in mean pre-index major coronal curve ( P =0.25). Conclusions: The prevalence of neural axis abnormalities in C-EOS was 20%. There was no significant correlation between age at first MRI and the chance of an abnormal MRI. There were no significant differences in neurological complications and UPROR between the younger than or equal to 3-year and older than 3-year groups. Thus, in C-EOS, MRI may be cautiously deferred until after the age of 3 in patients with normal neurological examinations and radiological findings.

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. Methods: Using the results of a prior systematic review, 10 key questions that required further assessment were first identified. A committee of 20 experts across medical specialties was then chosen based on their clinical experience with spinal deformity and tumors in NF1. These were 9 orthopaedic surgeons, 4 neuro-oncologists/oncologists, 3 neurosurgeons, 2 neurologists, 1 pulmonologist, and 1 clinical geneticist. An initial online survey on current practices and opinions was conducted, followed by 2 additional surveys via a formal consensus-based modified Delphi method. The final survey involved voting on agreement or disagreement with 35 recommendations. Items reaching consensus (≥70% agreement or disagreement) were included in the final BPGs. Results: Consensus was reached for 30 total recommendations on the management of spinal deformity and tumors in NF1. These were 11 recommendations on screening and surveillance, 16 on surgical intervention, and 3 on medical therapy. Five recommendations did not achieve consensus and were excluded from the BPGs. Conclusion: We present a set of consensus-based BPGs comprised of 30 recommendations for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric NF1.