White, Klane K.

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.

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). The primary purpose of this study is to investigate whether EOS patients with connective tissue laxity disorders have diminishing returns during growth friendly surgery. Methods: CTD EOS patients below 10 years old, underwent growth friendly spine surgery with distal anchors and at least 1 proximal spine anchor, and had minimum follow-up of 5 years were included in this study. Coronal T1-S1 height at preindex surgery, postindex, and every available lengthening was assessed. Mean coronal height change during early set distractions and late set distractions were calculated for the cohort. To account for varying distraction intervals, we normalized the distractions by the time interval. The outcome parameter was T1-S1 height gain, mm/year. Results: Twenty-one CTD patients were included in this study. Total coronal height (T1-S1) was 26.7MHCcm before index, 32.2 cm at D1-D3, 34.7 cm at D4-D6, and 36.7 cm at D7-L10. There were no significant differences in coronal height gains between early and late distractions (P=0.70). Moreover, when normalized for time, there was no significant difference in net gain per year at different lengthening time points for the CTD group, P=0.59. Conclusion: There is no evidence of diminishing returns in coronal T1-S1 height gain in patients with EOS in the setting of CTD. Level of Evidence: Level III.

OBJECTIVESurgery for severe congenital defects, such as congenital diaphragmatic hernia, congenital heart defects, and tracheoesophageal disorders, are life-saving treatments for many infants. However, the incidence of scoliosis following thoracoabdominal surgery has been reported to range from 8% to 50%. Little is known about severe scoliosis that occurs after chest wall procedures in infants. The authors sought to determine the prevalence of thoracogenic scoliosis, disease severity, and need for scoliosis surgery in patients who underwent chest wall procedures in early childhood.METHODSA multicenter database of patients with early-onset scoliosis was queried to identify patients with a history of thoracogenic or acquired iatrogenic scoliosis. Patients with significant congenital spine deformities were excluded. Forty-one patients (1.6%) were noted to have thoracogenic scoliosis. Of these patients, 14 patients were observed; 10 received casts and/or braces; and 17 underwent treatment with rib-based distraction rods, Shilla procedures, or spine-based growing rod devices. Radiographs, complications, and patient characteristics were reviewed.RESULTSThe mean age at scoliosis diagnosis for the 41 patients was 6.0 years. The mean time to follow-up was 2.9 years (4.5 years in the 17 surgical patients). The mean preoperative coronal Cobb angle in the surgical group was 65° and improved to 47° postoperatively (p = 0.01). The mean Cobb angle for the nonoperative group was 31° initially and 32° at follow-up (p = 0.44). Among the 17 patients undergoing surgery for scoliosis, there were 13 complications in 7 patients, including a brachial plexus palsy following rib-based distraction rod placement. This resolved with revision of the rib hooks. There were no known complications in the nonoperative cohort.CONCLUSIONSSevere scoliosis can develop after thoracoabdominal surgeries during infancy. Further work is needed to understand the pathogenesis of scoliosis in this population so as to implement measures for prevention and early diagnosis and to guide appropriate treatment.