The aim of this study is to clarify the implication of ciliary pathway on the onset of the spinal curvature that occurs in Adolescent Idiopathic Scoliosis (AIS) patients through functional studies of two genes: POC5 and TTLL11. Since the genetic implication for AIS is accepted, many association and candidate gene analysis revealed the implication of ciliary genes.

The characterisation of these two proteins was assessed by qPCR, WB and immunofluorescence in vitro using control cells and cells derived from AIS patients. The impact of genetic modification of these genes on the functionality of the proteins in vitro and in vivo was analysed in zebrafish model created by CRISPR/Cas9 using microCT and histologic analysis.

Our study revealed that mutant cells, for both gene, were less ciliated and the primary cilia was significantly shorter compared to control cells. We also observed a default in cilia glutamylation by immunofluorescence and Western Blot. Moreover, we observed in both zebrafish model, a 3D spine curvature similar to the spinal deformation in AIS. Interestingly, our preliminary results of immunohistology showed a retinal defect, especially at the cone cell layer level.

This study strongly supports the implication of the ciliary pathway in the onset of AIS and this is the first time that a mechanism is described for AIS. Indeed, we show that shorter cilia could be less sensitive to environmental factors due to lower glutamylation and result in altered signalling pathway. Identifying the biological mechanism involved is crucial for elucidating AIS pathogenesis.

Background. Involving research users in setting priorities for research is essential to ensure research outcomes are patient-centred and to maximise research value and impact. The Musculoskeletal (MSK) Disorders Research Advisory Group Versus Arthritis led a research priority setting exercise across MSK disorders. Methods. The Child Health and Nutrition Research Initiative (CHRNI) method of setting research priorities with a range of stakeholders were utilised. The MSKD RAG identified, through consensus, four research Domains: Mechanisms of Disease; Diagnosis and Impact; Living Well with MSK disorders and Successful Translation. Following ethical approval, the research priority exercise involved four stages and two surveys, to: 1) gather research uncertainties; 2) consolidate these; 3) score uncertainties using agreed criteria of importance and impact on a score of 1–10; and 4) analyse scoring, for prioritisation. Results. The first survey had 209 respondents, who described 1290 research uncertainties, which were refined into 68 research questions. 285 people responded to the second survey. The largest group of respondents represented patients and carers, followed by researchers and healthcare professionals. A ranked list was produced, with scores ranging between 12 and 18. Key priorities included developing and testing new treatments, better targeting of treatments, early diagnosis, prevention and better understanding and management of pain, with an emphasis on understanding underpinning mechanisms. Conclusions. For the first time, we have summarised priorities for research across MSKD, from discovery science to applied clinical and health research, including translation. We present a call to action to researchers and funders to target these priorities. Conflict of Interest: None. Sources of funding: We thank the funder, Versus Arthritis for their support of the research advisory groups and this activity

1312 patients with idiopathic scoliosis completed the ScolioGold Body Image Questionnaire (SBIQ) before and after a course of intensive PSSE treatment. A paired T-test compared the patient's perception of Body image. Mean age was 24.7 with a range of 6 to 83 years old (<18 = 687; >18 = 625), female = 1061, male = 251). Pre-treatment average was 5.3 (SD=2.07), which improved to 2.8 after treatment (SD=1.8). The difference of 2.6 was statistically significant (p<0.005). Pre-treatment, the patients in the children group scored 4.67, which was significantly lower than the adult group score of 6.32. On average, the children improved their scores by 2.48 to 2.19 which was statistically significant (p=0.000). The adults improved their scores by 2.81 to 3.51 which was statistically significant (p=0.000). On average patients with mild (11° to 25° Cobb angles) and moderate (26° to 50° Cobb angles) curvatures achieved a larger improvement compared to patients with severe curvatures (>50° Cobb angles). This difference of 0.35 was statistically significant (n=641, p<0.05). There were significant improvements in the total SBIQ scores before and after treatment in both the child and adult groups with mild to severe curvatures after an intensive course of PSSE treatment. This shows that intensive PSSE treatment can improve scoliotic patients' self-image, therefore addressing aspects of their psychosocial well-being

Introduction

Marfan syndrome (MFS) is a common connective tissue disorder affecting one in 3300 people worldwide, and is caused by unique mutations in the 65 exon gene for fibrillin-1—an essential microfibril component of ligaments, tendons, and muscle. A recently discovered feature in the Marfan mouse model is increased concentrations of transforming growth factor β, resulting in overgrowth. 70% of patients with MFS have scoliosis of some degree. Can lessons be learned from MFS aetiology and treatment that apply to idiopathic adolescent scoliosis? We aimed to establish whether there is a relationship between the type and location of mutation, and the presence and degree of severity of scoliosis, in patients with MFS.

Aims. The primary aim of this study was to evaluate the performance and safety of magnetically controlled growth rods in the treatment of early onset scoliosis. Secondary aims were to evaluate the clinical outcome, the rate of further surgery, the rate of complications, and the durability of correction. Patients and Methods. We undertook an observational prospective cohort study of children with early onset scoliosis, who were recruited over a one-year period and followed up for a minimum of two years. Magnetically controlled rods were introduced in a standardized manner with distractions performed three-monthly thereafter. Adverse events which were both related and unrelated to the device were recorded. Ten children, for whom relevant key data points (such as demographic information, growth parameters, Cobb angles, and functional outcomes) were available, were recruited and followed up over the period of the study. There were five boys and five girls. Their mean age was 6.2 years (2.5 to 10). Results. The mean coronal Cobb angle improved from 57.6° (40° to 81°) preoperatively, 32.8° (28° to 46°) postoperatively, and 41° (19° to 57°) at two years. Five children had an adverse event, with four requiring return to theatre, but none were related to the device. There were no neurological complications or infections. No devices failed. One child developed a proximal junctional kyphosis. The mean gain in spinal column height from T1 to S1 was 45.4 mm (24 to 81) over the period of the study. Conclusion. Magnetically controlled growth rods provide an alternative solution to traditional growing rods in the surgical management of children with early onset scoliosis, supporting growth of the spine while controlling curve progression. Their use has clear psychosocial and economic benefits, with the reduction of the need for repeat surgery as required with traditional growing rods. Cite this article: Bone Joint J 2018;100-B:507–15

It is not known how parents of children with scoliosis perceive cosmetic issues in their offspring. There is little clinical information regarding parental 'surrogate' assessment of a young persons' fears and beliefs regarding how a deformity affects the child and how that might influence the process of informed consent and surgical risk assessment. Method. Patients and their parents had a structured interview involving SRS20 and Walter Reed Visual Assessment Scale. The parents were asked to complete an SRS20 as they expected their child to complete it. That is they were asked to anticipate how the child might score and grade the SRS 20. Results. 28 patients, 6 males, 22 females, 8 females were pre-menarche, mean age 14 (12-17), mean cobb angle 57, completed the study. Mean parental age 45. There were 6 fathers and 22 mothers. The mean SRS scores for the domains for children were pain 2.49, self image 2.3 function 2.9 Mental health 2.9 Total 10.7. The mean SRS scores for the domains for the parents were pain 2.38 self image 2.39 function 2.97 Mental health 2.87 Total 10.5. There was no significant difference between mean scores for the four domains of the SRS20. Conclusion. Parents are remarkably good at estimating the SRS scores of the young person that they attend clinic with. Parents involved in the consent progress understand the areas where scoliosis impacts upon their child. This is reassuring information for the surgeon in informing the process of consent. COREC NUMBER: 07/H0402/67 Ethics approval

Aims. Magnetically controlled growing rods (MCGRs) allow non-invasive correction of the spinal deformity in the treatment of early-onset scoliosis. Conventional growing rod systems (CGRS) need repeated surgical distractions: these are associated with the effect of the ‘law of diminishing returns’. The primary aim of this study was to quantify this effect in MCGRs over sequential distractions. . Patients and Methods. A total of 35 patients with a maximum follow-up of 57 months were included in the study. There were 17 boys and 18 girls with a mean age of 7.4 years (2 to 14). True Distraction (TD) was determined by measuring the expansion gap on fluoroscopy. This was compared with Intended Distraction (ID) and expressed as the ‘T/I’ ratio. The T/I ratio and the Cobb angle were calculated at several time points during follow-up. Results. The mean follow-up was 30 months (6 to 57). There was a significant decrease in the mean T/I ratio over time (convex rod at 3 months 0.81, . sd. 0.58 vs 51 months 0.17, . sd . 0.16, p = 0.0001; concave rod at 3 months 0.93, . sd. 0.67 vs 51 months 0.18, . sd. 0.15, p = 0.0001). A linear decline of the mean T/I ratios was noted for both convex rods (r. 2. = 0.90, p = 0.004) and concave rods (r. 2. = 0.81, p = 0.015) over 51 months. At the 24-month follow-up stage, there was a significant negative correlation between the mean T/I ratio of the concave rod with weight (r = -0.59, p = 0.01), age (r = -0.59, p = 0.01), and BMI of the child (r = -0.54, p = 0.01). Conclusions. The ‘law of diminishing returns’ is also seen after serial distraction using MCGR. Compared to previously published data for CGRS, there is a gradual linear decline rather than a rapid initial decline in lengthening. In older, heavier children a reduced distraction ratio in the concave rod of the MCGR device is noted over time. Cite this article: Bone Joint J 2017;99-B:1658–64

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.

Aims

Scoliosis is a lateral curvature of the spine with associated rotation, often causing distress due to appearance. For some curves, there is good evidence to support the use of a spinal brace, worn for 20 to 24 hours a day to minimize the curve, making it as straight as possible during growth, preventing progression. Compliance can be poor due to appearance and comfort. A night-time brace, worn for eight to 12 hours, can achieve higher levels of curve correction while patients are supine, and could be preferable for patients, but evidence of efficacy is limited. This is the protocol for a randomized controlled trial of ‘full-time bracing’ versus ‘night-time bracing’ in adolescent idiopathic scoliosis (AIS).

Aims

The prevalence of scoliosis is not known in patients with idiopathic short stature, and the impact of treatment with recombinant human growth hormone on those with scoliosis remains controversial. We investigated the prevalence of scoliosis radiologically in children with idiopathic short stature, and the impact of treatment with growth hormone in a cross-sectional and retrospective cohort study.

Aims

The aim of this study was to report the long-term prognosis of patients with multiple Langerhans cell histiocytosis (LCH) involving the spine, and to analyze the risk factors for progression-free survival (PFS).

Acute angulation at the thoracolumbar junction with segmental subluxation of the spine occurring at the level above an anteriorly hypoplastic vertebra in otherwise normal children is a rare condition described as infantile developmental thoracolumbar kyphosis. Three patient series with total of 18 children have been reported in the literature. We report five children who presented with thoracolumbar kyphosis and discuss the treatment algorithm. We reviewed the medical records and spinal imaging at initial clinical presentation and at minimum two-year follow-up. The mean age at presentation was eight months (two to 12). All five children had L2 anterior vertebral body hypoplasia. The kyphosis improved spontaneously in three children kept under monitoring. In contrast, the deformity was progressive in two patients who were treated with bracing. The kyphosis and segmental subluxation corrected at latest follow-up (mean age 52 months; 48 to 60) in all patients with near complete reconstitution of the anomalous vertebra. The deformity and radiological imaging on a young child can cause anxiety to both parents and treating physicians. Diagnostic workup and treatment algorithm in the management of infantile developmental thoracolumbar kyphosis is proposed. Observation is indicated for non-progressive kyphosis and bracing if there is evidence of kyphosis and segmental subluxation deterioration beyond walking age. Surgical stabilisation of the spine can be reserved for severe progressive deformities unresponsive to conservative treatment. . Cite this article: Bone Joint J 2015;97-B:982–7

The use of serial casting in the management of early onset scoliosis (EOS) has been well described. Our aim was to evaluate outcomes of plaster jacket therapy in patients with EOS from a tertiary referral centre. A retrospective review of hospital records and PACS images of 27 patients to identify patients treated with serial casting over a five year period. The primary outcome measure was the need for surgical intervention, with change in Cobb angle used as a secondary outcome measure. Mean age at presentation was 14 months (range 10 – 42), including 14 male and 13 female patients, with an average follow-up of 34 months. Curves were categorised according to aetiology: 16 idiopathic, 6 syndromic, 3 congenital and 2 neuromuscular curves. The mean Cobb angle at diagnosis was 43.7° (range 22 – 115) and mean rib vertebral angle difference (RVAD) was 22.2° (8 – 70). Duration of treatment was 9.9 months (range 3 – 27), with an average of two plaster jacket changes per child. At the time of review, patients fell into one of three groups. Group one (10 patients) failed conservative treatment due no improvement in Cobb angle (mean 48.4° compared with pre-op 53.9°, p value 0.55) and either had insertion of growing rods or had been listed for this procedure, at a mean age of 51.8 months. Group two (12 patients) had a mean Cobb angle of 38.9° pre-treatment which improved to 23.5° (p value <0.05) and were either treated in a brace or had discontinued treatment. The mean RVAD at initial diagnosis was 36.6° in group 1 compared with 13.8° in group 2 (p<0.05). All patients in group one requiring surgical treatment had an RVAD of greater than 20°. Serial casting is on-going for five patients (group three). Complications occurred in 30% of patients including pressure sores, chest infection and respiratory compromise requiring intubation. Current NICE guidance recognises that serial casting ‘rarely corrects scoliosis’ but recommends it may be used ‘to allow growth before a more permanent treatment is offered’. In our experience, serial casting did not allow any patients with a progressive scoliosis (determined by an RVAD of greater than 20°), to reach a single definitive fusion. However serial casting appeared to halt to curve progression until the child was suitable for the insertion of a growing rod system

There remains debate regarding which surgical approach gives the best outcome, anterior alone or posterior alone, in surgically relevant adolescent idiopathic scoliosis. The operation is mainly cosmetic in terms of health care advantage. This prospective study evaluated scar site preference and other relevant body image parameters prior to any intervention. Patients and their parents had a structured interview involving SRS20 and Walter Reed Visual Assessment Scale as well as grading of nine AP and lateral clinical photographs specifically of anterior and posterior scoliosis surgery scars. Each clinical image was graded 1-10 on a scale of unsatisfactory and satisfactory. Parents completed assessments as well as the patients. Results: 28 patients, 6 males, 22 females, 8 females were pre-menarche, mean age 14 (12-17), mean cobb angle 57, completed the study. Mean parental age 45. There was no significant difference between mean scores for the four anterior scar (6.36) and the five posterior scar (6.35) images. p value 0.49. In parents the preferences were more apparent posterior 6.9, anterior 6.2 but this was not statistically significant (p=0.06). There was no significant difference between all four domains of the SRS between parent and child. In terms of expressed preference the child had no preference in 7, thoracotomy in 7 and posterior midline in 14, whereas parents expressed no preference in 12, thoracotomy in 4 and posterior midline in 12. In this prospective study there was no perceived difference in acceptability of anterior or posterior scars for scoliosis surgery approaches

Background. There is concern that a sedentary lifestyle in childhood is harmful to spinal health. The literature stands divided, as there are reports also of an increased injury rate in children who are physically active. Children cannot be expected to remember correctly amount of physical activity in the past nor can they remember correctly past events of backpain. We therefore used a new method, SMS-Track, to collect weekly data over a long period of time. Methods and material. In a prospective Danish study, the effect of increased physical activity was tested vs. “business-as-usual” in 10 primary schools. We collected data on time spent on physical activities and any backpain in the preceding week. For this we sent the children weekly text-messages, to which the children/parents responded with a text-message as well. If the child reported having had any backpain during the preceding week, the parents were contacted, the child seen by a health professional, and treatment initiated if necessary. Results. Compliance for responding to the text-messages was 92%. The total risk time was 35,238 weeks for the participating 1208 children. As the assumption for proportional hazards was not met, negative binomial regression was used to test the association between level of physical activity and incidence of backpain. In addition, we adjusted for age, school and grade level and used robust standard errors. Adjustment for clustering in the school classes was also made. Sport participation reduced the incidence rate significantly with 0.08 for each day with organised sport after school. Conclusion. These interim analyses indicate that sport participation is protective, reducing the risk of reporting backpain in childhood

In major procedures like scoliosis surgery, parents are often asked to sign the consent on behalf of children because of the pretext that minor may have limited understanding and judgement about the procedure. Scoliosis surgery for patients with AIS is mainly indicated for cosmetic or psychological reasons. We audited our practice in the department to collect information on the current consent practices involving the minor patients undergoing scoliosis surgery. We also have conducted a questionnaire survey of the various spinal units in UK to assess their practice in this regard. Forty-two consent forms (28 patients; multiple procedures in some patients) and case notes of patients between 12 and 16 years undergoing scoliosis surgery were reviewed. We have contacted 12 spinal deformity correction units and 11 spinal trauma units across UK over telephone to assess the current consenting practice as well. 9.5% (n=4) patients signed there own consent forms. Except in one case explanation of risks were documented in detail. Except two units (18%) offering the minor patient to sign their consent, parents are usually asked to sign consent on their behalf in majority (10/12) units. Seven out of the twelve spinal units use standard NHS or department of health consent forms. Few units have their own consent form with some alterations or additions. There is no specific age when a child becomes competent to consent to treatment: It depends both on the child and on the seriousness and complexity of the treatment being proposed. However, it is still good practice to encourage competent children to more involved along with their families in decision-making

Abstract

MAGnetic Expansion Control (MAGEC) rods are used in the surgical treatment of children with early onset scoliosis. The magnetically controlled lengthening mechanism enables rod distractions without the need for repeated invasive surgery. The CE certification of these devices was suspended in March 2021 due, primarily, to performance evidence gaps in the documents provided by the manufacturer to regulators and notified bodies. MAGEC rods are therefore not permitted for use in countries requiring CE marking. This was a survey of 18 MAGEC rod surgeons in the UK about their perception of the impact of the CE suspension on the clinical management of their patients. Unsurprisingly, virtually all perceived a negative impact, reflecting the complexity of this patient group. Reassuringly, these surgeons are highly experienced in alternative treatment methods.

Cite this article: Bone Jt Open 2022;3(2):155–157.

Aims

Vertebral body tethering (VBT) is a non-fusion technique to correct scoliosis. It allows correction of scoliosis through growth modulation (GM) by tethering the convex side to allow concave unrestricted growth similar to the hemiepiphysiodesis concept. The other modality is anterior scoliosis correction (ASC) where the tether is able to perform most of the correction immediately where limited growth is expected.

Aims

The aim of this study was to compare the clinical and radiological outcomes of patients with early-onset scoliosis (EOS), who had undergone spinal fusion after distraction-based spinal growth modulation using either traditional growing rods (TGRs) or magnetically controlled growing rods (MCGRs).

Aims

The aim of this study was to determine whether there is an increased prevalence of scoliosis in patients who have suffered from a haematopoietic malignancy in childhood.