Background:Pediatric limb reconstruction after resection of a malignant tumor presents specific challenges. Multiple surgical techniques have been used to treat these patients. This paper describes a staged surgical technique for the reconstruction of large distal femoral defects due to tumor resection in skeletally immature patients.Methods:Three pediatric patients with osteosarcoma of the distal femur underwent staged reconstruction. Neoadjuvant chemotherapy was followed by en bloc tumor resection and immediate reconstruction of the distal femoral defect with a vascularized free fibular autograft utilizing a unique A-frame construct combined with intramedullary nail fixation. The second stage was a planned gradual lengthening of the healed construct, over a custom-made magnetically driven expandable intramedullary nail.Results:All patients achieved bony union and satisfactory length with minimal complications. The patients all returned to full, unlimited physical activities.Conclusions:The early results confirm that the described technique is a safe and reliable procedure for the reconstruction of large femoral defects in pediatric patients with osteosarcoma.Level of Evidence:Level IVtherapeutic.

Aim We studied ‘hip health’ in a population-based cohort of adolescents and young adults with cerebral palsy to investigate associations between hip morphology, pain, and gross motor function. Method Ninety-eight young adults (65 males, 33 females) from the birth cohort were identified as having developed hip displacement (migration percentage >30) and were reviewed at a mean age of 18 years 10 months (range 15–24y). Hip morphology was classified using the Melbourne Cerebral Palsy Hip Classification Scale (MCPHCS). Severity and frequency of pain were recorded using Likert scales. Gross motor function was classified by the Gross Motor Function Classification System (GMFCS). Results Hip pain was reported in 72% of participants. Associations were found between pain scores and both hip morphology and GMFCS. Median pain severity score for MCPHCS grades 1 to 4 was 2 (interquartile range [IQR] 1.0–3.0) compared to 7 (IQR 6.0–8.0) for grades 5 and 6 (severe subluxation or dislocation). Hip surveillance and access to surgery were associated with improved hip morphology and less pain. Interpretation Poor hip morphology at skeletal maturity was associated with high levels of pain. Limited hip surveillance and access to surgery, rather than GMFCS, was associated with poor hip morphology. The majority of young adults who had access to hip surveillance, and preventive and reconstructive surgery, had satisfactory hip morphology at skeletal maturity and less pain. Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities Fadi Alkufri, MD, MRCP, Avraham Shaag, PhD, Bassam Abu-Libdeh, MD Orly Elpeleg, MD Neurol Genet 2016;2:e64; doi: 10.1212/NXG.0000000000000064

AIM Scoliosis is a common comorbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.METHOD Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population- based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle >= 45 degrees) before adulthood.RESULTS After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12-0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06-0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16-1.03; p=0.06).INTERPRETATION With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.

STUDY DESIGN:Population-based longitudinal observational study.OBJECTIVE:To describe the prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking into account the influences of age, genotype, and ambulatory status.SUMMARY OF BACKGROUND DATA:Scoliosis is the most common orthopedic comorbidity in Rett syndrome yet very little is known about its natural history and influencing factors such as age, genotype, and ambulatory status.METHODS:The infrastructure of the Australian Rett Syndrome Database was used to identify all cases with confirmed Rett syndrome in Australia and collect data on genotype and walking status. We identified radiological records and described the Cobb angle of each curve. Time to event analysis was used to estimate the median age of onset of scoliosis and the log-rank test to compare by mutation type. Latent class group analysis was used to identify groups for the trajectory of walking status over time and a multilevel linear model used to assess trajectories of scoliosis development by mutation type and walking status. We used a logistic regression model to estimate the probability of developing a scoliosis with a Cobb angle >60° at 16 years in relation to Cobb angle and walking status at 10 years of age.RESULTS:The median age of scoliosis onset was 11 years with earliest onset in those with a p.Arg255 mutation or large deletion. Scoliosis was progressive for all mutation types except for those with the p.Arg306Cys mutation. Scoliosis progression was reduced when there was capacity to walk independently or with assistance. Cobb angle and walking ability at age 10 can be reliably used to identify those who will develop a very severe scoliosis by age 16.CONCLUSION:These data on prognosis of scoliosis inform clinical decision making about the likelihood of progression to very severe scoliosis and the need for surgical management.LEVEL OF EVIDENCE:4.

Introduction. Rett Syndrome is a rare genetic neurodevelopmental disorder usually affecting females. Scoliosis is a common comorbidity and spinal fusion may be recommended if severe. Little is known about long term outcomes. We examined the impact of spinal fusion on survival and risk of severe lower respiratory tract infection (LRTI) in Rett Syndrome. Methods Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry of Rett Syndrome cases established in 1993, and the Australian Institute of Health and Welfare National Death Index database. An extended Cox regression model was used to estimate the effect of spinal surgery on survival in females who developed severe scoliosis (Cobb angle > 45 degrees). Generalized estimating equation modelling was used to estimate the effect of spinal surgery on the odds of developing severe LRTI. Results Severe scoliosis was identified in 140 cases (60.3%) of whom slightly fewer than half (48.6%) developed scoliosis prior to eight years of age. Scoliosis surgery was performed in 98 (69.0%) of those at a median age of 13 years 3 months (IQR 11 years 5 months – 14 years 10 months). After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (HR 0.30, 95% CI 0.12, 0.74, P = 0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06, 0.52, P = 0.002). Spinal fusion was not associated with reduction in the occurrence of a severe LRTI overall (OR 0.60, 95%CI 0.27, 1.33, P=0.206) but was associated with a large reduction in odds of severe LRTI among those with early onset scoliosis (OR 0.32, 95%CI 0.11, 0.93, P=0.036). Conclusion With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.

PURPOSE:We evaluated family satisfaction following spinal fusion in girls with Rett syndrome.METHODS:Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on satisfaction overall, care processes and expected changes in health and function. Content analysis of responses to open-ended questions was conducted.RESULTS:Families reported high levels of overall satisfaction and consistently high ratings in relation to surgical and ICU care. Outstanding clinical care and the development of strong partnerships with clinical staff were much appreciated by families, whereas poor information exchange and inconsistent care caused concerns.CONCLUSIONS:Family satisfaction is an important outcome within a patient-centred quality of care framework. Our findings suggest strategies to inform the delivery of care in relation to spinal fusion for Rett syndrome and could also inform the hospital care of other children with disability and a high risk of hospitalization.

Introduction Spinal cord monitoring in posterior scoliosis surgery has become a standard of care. It has been our practice since 1999, to monitor the somato-sensory potential (SEP) and motor evoked potential (MEP) in all posterior cases. We report on and discuss the meaning of alteration in the spinal cord monitor signal that occurred in 15 cases from a total of 165 procedures. Methods This is a retrospective review of patients from a hospital database. Over a six year period, 167 posterior scoliosis instrumented fusion procedures were performed by paired combinations of the four authors. In 13 cases we have been alerted to a change in one or both signals during the procedure. Associated with these, were two cases of intra-operative cardiac arrest, and six cases of post-operative neurological deficit. All patients remain under continued regular review. Results In the two cases of intra-operative cardiac arrest, the SEP and MEP signals were lost approximately three minutes prior to the arrest. Both patients had neurological deficits post-operatively, one has totally recovered, and one has a residual complex regional pain syndrome of the right leg. This last patient is the only one of six who has not had complete resolution of the post-operative neurological deficit. In five of the six cases who sustained post-operative neurological deficits, the SEP and usually the MEP was lost and did not return. In the sixth case, the SEP did return. In the remaining seven cases, there were changes of decreased amplitude or increased latency in the SEP or MEP that did not appear to result in a postoperative clinical consequence, however; in two patients, signal changes were directly related to changes in blood pressure, and in two other patients, signal changes were directly related to concave hook placement. Discussion On review of the management and outcome of these cases, we conclude that profound hypotension will alter the SEP and may herald a catastrophic cardiovascular or neurological event. Furthermore, the modality of continuous spinal cord monitoring can provide specificity in the diagnosis of an actual or impending neurological insult and allow for appropriate and timely intervention. We believe spinal cord monitoring in the posterior approach for spinal deformity is an invaluable tool, and is in fact, mandatory for all idiopathic and ambulant non-idiopathic spinal deformities.

Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically and RNA was extracted and its integrity was assessed using a Bio-Spec Mini, NanoDrop ND-1000 spectrophotometer and standard denaturing gel electrophoresis. Following cDNA synthesis, gene-specific optimization in a Corbett RotorGene 6000 real-time cycler was followed by qRT-PCR of vertebral tissue. Histological examination of vertebral samples confirmed that only growth plate was analyzed for gene expression. Cycling and melt curves were resolved in triplicate for all samples. SHOX abundance was demonstrated in congenital and idiopathic scoliosis vertebral body growth plates. SHOX expression was 11-fold greater in idiopathic compared to congenital (n = 3) scoliosis (p = 0.027). This study confirmed that SHOX was expressed in vertebral body growth plates, which implies that its expression may also be associated with the scoliosis (and kyphosis) of Turner syndrome. SHOX expression is reduced in Turner syndrome (short stature). In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.

ANZ Journal of SurgeryVolume 73, Issue 11 p. 889-889 Children's Orthopaedics and Fractures: Second Edition. Ian Torode, Ian Torode Department of Orthopaedics Royal Children's Hospital Melbourne,Victoria, AustraliaSearch for more papers by this author Ian Torode, Ian Torode Department of Orthopaedics Royal Children's Hospital Melbourne,Victoria, AustraliaSearch for more papers by this author First published: 29 October 2003 https://doi.org/10.1046/j.1445-2197.2003.02828.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume73, Issue11November 2003Pages 889-889 RelatedInformation