Activation of Wnt signaling in human fracture callus and nonunion tissues.

The Wnt signaling pathway is a key molecular process during fracture repair. Although much of what we now know about the role of this pathway in bone is derived from in vitro and animal studies, the same cannot be said about humans. As such, we hypothesized that Wnt signaling will also be a key process in humans during physiological fracture healing as well as in the development of a nonunion (hypertrophic and oligotrophic). We further hypothesized that the expression of Wnt-signaling pathway genes/proteins would exhibit a differential expression pattern between physiological fracture callus and the pathological nonunion tissues. We tested these two hypotheses by examining the mRNA levels of key Wnt-signaling related genes: ligands (WNT4, WNT10a), receptors (FZD4, LRP5, LRP6), inhibitors (DKK1, SOST) and modulators (CTNNB1 and PORCN). RNA sequencing from calluses as well as from the two nonunion tissue types, revealed that all of these genes were expressed at about the same level in these three tissue types. Further, spatial expression experiments identified the cells responsible of producing these proteins. Robust expression was detected in osteoblasts for the majority of these genes except SOST which displayed low expression, but in contrast, was mostly detected in osteocytes. Many of these genes were also expressed by callus chondrocytes as well. Taken together, these results confirm that Wnt signaling is indeed active during both human physiological fracture healing as well as in pathological nonunions.

Pseudoarthrosis of the Distal Humerus in Pediatric Osteogenesis Imperfecta Patients: A Case Series and Literature Review.

Osteogenesis imperfecta (OI) is a rare skeletal disorder that increases a patient's susceptibility to bone fracture. One complication commonly associated with fractures in this population is the occurrence of non-union leading to pseudoarthrosis. In this case series, three cases of non-union of the distal humerus leading to pseudoarthrosis in the pediatric OI population are presented. One case presents a successful attempt at treatment, one case presents a failed attempt at treatment, and the third case presents a patient's refusal to get treated. Furthermore, a literature review highlighting other institutions' attempts, successes, and failures at treating this clinical entity is presented. Combining the data retrieved from our institution and others, this review demonstrates that there is currently no standard for treating these patients. Additionally, based on the small case series and literature review presented in this article, definitive guidelines for the treatment of pseudoarthrosis of the distal humerus in pediatric OI patients cannot be outlined. However, our findings suggest that both non-surgical and surgical treatments could be viable options for patients with asymptomatic pseudoarthrosis of the distal humerus.

Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live births. Typical features of AMC include multiple joint contractures present at birth, and can affect all joints of the body, from the jaw, and involving the upper limbs, lower limbs and spine. The jaws may be affected in 25 % of individuals with AMC, with limited jaw movement and mouth opening. Other oral and maxillofacial deformities may be present in AMC, including cleft palate, micrognathia, periodontitis and delayed teething. To our knowledge, oral and maxillofacial abnormalities have not been systematically assessed in individuals with AMC. Therefore, this scoping review was conducted to identify, collect, and describe a comprehensive map of the existing knowledge on dental and maxillofacial involvement in individuals with AMC. METHODOLOGY: A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines. The PRISMA guidelines for scoping reviews were followed and databases were searched for empirical articles in English and French published until October 2022. We searched MEDLINE, Embase, Web of Science and ERIC databases. Two authors independently reviewed the articles and extracted the data. RESULTS: Of a total of 997 studies that were identified, 96 met the inclusion criteria and were subsequently included in this scoping review. These 96 studies collectively provided insights into 167 patients who exhibited some form of oral and/or maxillofacial involvement. Notably, 25 % of these patients were within the age range of 0-6 months. It is worth highlighting that only 22 out of the 96 studies (22.9 %), had the primary objective of evaluating dental and/or maxillofacial deformities. Among the patients studied, a prevalent pattern emerged, revealing that severe anomalies such as micrognathia (56 %), high-arched palate (29 %), cleft palate (40 %), limited mouth opening (31 %), and dental anomalies (28 %) were frequently observed. Importantly, many of these patients were found to have more than one of these anomalies. Even though these maxillofacial impairments are known to be associated with dental problems (e.g., cleft palate is associated with oligodontia, hypodontia, and malocclusion), their secondary effects on the dental phenotype were not reported in the studies. CONCLUSION: Our findings have uncovered a notable deficiency in existing literature concerning dental and maxillofacial manifestations in AMC. This underscores the need for interdisciplinary collaboration and the undertaking of extensive prospective cohort studies focused on AMC. These studies should assess the oral and maxillofacial abnormalities that can impact daily functioning and overall quality of life.

Growth Modulation for the Treatment of Juvenile Hallux Valgus: A Systematic Review of Literature.

Background: Juvenile hallux valgus (JHV) is a forefoot deformity that causes pain and functional limitation. Treatment poses a challenge in terms of the optimal technique and timing of intervention. A systematic review of the literature on the use of growth modulation in treating JHV was conducted. Materials and methods: The literature review was performed using PubMed and EMBASE searches for articles investigating growth modulation in the treatment of JHV published before December 1st, 2021. Seven articles were included in the final review that matched the inclusion and exclusion criteria. The primary outcomes included the degree of correction of hallux valgus angle and intermetatarsal angle. A qualitative assessment of the articles was done due to the heterogeneity of the growth modulation methods used in these articles. Results: A total of 135 feet from 78 patients were included from the reviewed articles. Growth modulation methods included temporary screw lateral hemiepiphysiodesis of the first metatarsal, lateral drilling hemiepiphysiodesis of the first metatarsal, and a trephine plug removal of the lateral epiphysis followed by cancellous bone graft insertion. The degree of correction of the hallux valgus and intermetatarsal angles were found to be statistically significant in all studies, regardless of the technique. Conclusion: Growth modulation for JHV by lateral hemiepiphysiodesis using minimally invasive techniques produced favourable radiologic outcomes with some evidence of clinical improvement. Larger, prospective and comparative studies with objective clinical outcome measures may further consolidate this surgical approach as a mean to treating this deformity. How to cite this article: AlZeedi M, Park JP, Marwan Y, et al. Growth Modulation for the Treatment of Juvenile Hallux Valgus: A Systematic Review of Literature. Strategies Trauma Limb Reconstr 2023;18(1):51-55.

Distal Femur Anterior Hemiepiphysiodesis for Fixed Knee Flexion Deformity in Neuromuscular Patients: A Systematic Review.

BACKGROUND: In the past decade, distal femur anterior hemiepiphysiodesis for fixed knee flexion deformity has gained popularity. In this study, we aim to systematically review the literature on this technique as a treatment for fixed knee flexion deformity in patients with neuromuscular disorders. METHODS: A systematic review was performed in the following databases: PubMed, Embase, and Medline. The inclusion criteria included anterior hemiepiphysiodesis of the distal femur for patients with neuromuscular disorders and fixed knee flexion deformities. RESULTS: Our search yielded 419 titles. A total of 12 articles were qualified for final review based on the inclusion and exclusion criteria. The total number of patients was 279, with 483 knees corrected. The male to female ratio was 2.1:1, and the mean age of the patients was 11.3 ± 1.4 years (range 4-17 years). The mean preoperative flexion deformity was 23.1° ± 10.0° (range 10°-90°). The mean residual flexion deformity at the final follow-up was 8.6° ± 9.0° (range 0°-32.5°), which corresponds to a statistically significant decrease compared with the preoperative deformity (p < 0.05). CONCLUSION: Anterior hemiepiphysiodesis for fixed knee flexion deformity provides favourable outcomes with low complication rates in patients with neuromuscular disorders. Future studies should focus on comparing the long-term outcomes of the different metal implants used for these operations. LEVEL OF EVIDENCE: Level III. See Instructions for Authors for a complete description of levels of evidence.

The Design, Development, and Usability Testing of an eHealth Program for Youths With Osteogenesis Imperfecta: Protocol for a 2-Phase User-Centered Mixed Methods Study.

BACKGROUND: Innovative approaches are needed to address the self-management needs of youths with osteogenesis imperfecta (OI) transitioning into adult-oriented health care systems. Using a sequentially phased research approach, the goal is to design, develop, and test the usability of an innovative eHealth program called "Teens Taking Charge: Managing OI Online," hereafter named "Teens OI." This program seeks to optimize self-management, facilitate a successful transition to adult care, and address a critical gap in the quality of care for youths with OI. OBJECTIVE: The study objectives are to (1) design and develop an English and French version of the Teens OI and (2) test the usability of the Teens OI in terms of efficiency, effectiveness, and satisfaction from the perspectives of youths with OI and their parents. METHODS: A user-centered design is presently in progress to design and develop Teens OI. A "Website Design and Development Council" (ie, Council) has been convened, with 20 youths and parent dyads recruited and global experts surveyed at an international meeting. With unanimous support from the Council, usability testing of the Teens OI will ensue in 4 iterative cycles with 32 youth-parent dyads. All sociodemographic and usability metrics will be descriptively analyzed. All recorded interview and focus group data are analyzed using content analysis techniques involving an iterative process of data reduction, data display, conclusion drawing, and verification. RESULTS: As of December 2022, an 8-person, interdisciplinary Teens OI council, comprising 4 health care professionals, 3 youths and young adults with OI, and 1 parent, has been convened to oversee the design and development of Teens OI. Two cycles of interviews have been conducted with 10 youths with OI with or without their parents (n=6) from December 2021 to September 2022. Data analysis has been in progress since April 2022. Aim 2 is ethically approved and will commence following the completion of content development, expected by late July 2023. Preliminary analysis indicates that the following topics need to be prioritized for the youths: mental health, pain, accessibility, medical care, education, community, and parental care. CONCLUSIONS: The proposed study will design and develop a self-management and transitional care program for youths with OI in partnership with patients, caregivers, and health care professionals. This study leverages youths' openness to adopt eHealth technologies to meet their needs and has the potential to actively engage them to autonomously manage their lifelong conditions, and facilitate a successful transition to adult health care. Finally, the proposed study will also address a critical gap in the quality of care and the growing concern that the OI population transitioning from pediatric to adult care is at risk of various adverse events associated with the transition. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/47524.

Talectomy for arthrogrypotic foot deformities: A systematic review.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in AMC, but the literature is limited. The purpose of this systematic review is to evaluate the indications, outcomes and complications of talectomy in arthrogrypotic foot deformities. METHODS: The articles were found through Embase and Medline. Screening was conducted by two independent investigators with disagreements resolved by a third reviewer. Relevant data regarding demographics, outcomes and complications were collected. RESULTS: Of 232 feet, 71.98 % and 62.22 % had clinical and radiographic improvements respectively. Amongst 122 patients, 92.62 % could ambulate following surgery. Recurrent deformities and revision surgery were seen in 16.81 % and 13.36 % of cases respectively. CONCLUSIONS: Talectomy is a valid surgical option for severe arthrogrypotic foot deformities with favorable post-operative outcomes and low complication rate.

Anterior Hemiepiphysiodesis of the Distal Tibia: A Step-by-step Surgical Technique Guide.

Aim: This paper aims to serve as a guide for surgeons to prepare, execute, and perfect anterior hemiepiphysiodesis of the distal tibia (AHDT). Background: Treatment of persistent or recurrent equinus deformity following multiple conservative and surgical interventions in patients with idiopathic clubfoot or neuromuscular conditions can be challenging, and multiple surgical options are presented in the existing literature. Anterior hemiepiphysiodesis of the distal tibia is an option that seems to be safe and efficient in treating this entity. To the best of our knowledge, there is not yet any detailed description of this surgical technique in the English literature. Technique: The AHDT detailed surgical technique includes patient positioning, careful distal anterior tibial approach, placement of guided growth plates, fixation with epiphyseal and metaphyseal screws under fluoroscopic guidance, meticulous closure, and postoperative measures. Conclusion: This guide can be used pre-operatively to plan the surgery, intra-operatively to aid in smooth and safe step progression, and post-operatively to assist in critical critiquing. Clinical significance: By understanding the various stages of the surgery as well as the anatomy, pitfalls can be avoided and AHDT can be performed efficiently. How to cite this article: Katz A, Dumas É, Hamdy R. Anterior Hemiepiphysiodesis of the Distal Tibia: A Step-by-step Surgical Technique Guide. Strategies Trauma Limb Reconstr 2023;18(3):174-180.

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC. METHODS AND ANALYSIS: Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted. ETHICS AND DISSEMINATION: Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.

Neglected Monteggia fracture: a review.

Monteggia fracture is characterized by radial head dislocation combined with proximal ulnar fracture. If not diagnosed at an early stage, these lesions can gradually lead to forearm deformities and dysfunction, finally resulting in neglected Monteggia fracture. When the radial head is not reduced, several deformities develop at the humeroradial joint, including cubitus valgus and osteoarthritis. Adequate radiographs are crucial when the surgeons deal with forearm injuries. At present, proximal ulnar osteotomy and open reduction of chronic radial head dislocation provides satisfactory functional outcomes because of anatomic alignment reconstruction. Supplementary procedures, including transcapitellar pinning and repair or reconstruction of the annular ligament, which are performed in order to enhance stability of the humeroradial joint, should be thoroughly assessed based on joint rotational stability after reduction and on potential complications.

Characterization and functional analysis of the adipose tissue-derived stromal vascular fraction of pediatric patients with osteogenesis imperfecta.

Pediatric patients with Osteogenesis Imperfecta (OI), a heritable connective tissue disorder, frequently suffer from long bone deformations. Surgical correction often results in bone non-unions, necessitating revision surgery with autogenous bone grafting using bone-marrow-derived stem cells (BM-SC) to regenerate bone. BM-SC harvest is generally invasive and limited in supply; thus, adipose tissue's stromal vascular fraction (SVF) has been introduced as an alternative stem cell reservoir. To elucidate if OI patients' surgical site dissected adipose tissue could be used as autologous bone graft in future, we investigated whether the underlying genetic condition alters SVF's cell populations and in vitro differentiation capacity. After optimizing SVF isolation, we demonstrate successful isolation of SVF of pediatric OI patients and non-OI controls. The number of viable cells was comparable between OI and controls, with about 450,000 per gram tissue. Age, sex, type of OI, disease-causing collagen mutation, or anatomical site of harvest did not affect cell outcome. Further, SVF-containing cell populations were similar between OI and controls, and all isolated SVF's demonstrated chondrogenic, adipogenic, and osteogenic differentiation capacity in vitro. These results indicate that SVF from pediatric OI patients could be used as a source of stem cells for autologous stem cell therapy in OI.

Use of virtual reality in managing paediatric procedural pain and anxiety: An integrative literature review.

AIMS: This integrative review aimed to identify, analyse and synthesise studies investigating the clinical efficacy of virtual reality (VR) distraction for children undergoing varying painful and anxiety-inducing medical procedures across different hospital settings and to identify implications for research and clinical practice. BACKGROUND: Virtual reality has been leveraged as a distraction tool in the healthcare setting to help patients manage procedural pain and anxiety. Initial studies in the burn wound care setting using VR as a non-pharmacological analgesia led to the use of VR during other medical procedures. DESIGN: An integrative review of the literature was conducted following the PRISMA guidelines across four electronic databases. Published studies between 2000 and 2020 investigating the clinical efficacy of VR in managing paediatric procedural pain or anxiety were included for review. RESULTS: Reviewed studies collectively included 2,174 patients aged 6 months-18 years used VR during burn wound care, post-burn physiotherapy, dental, needle-related and other procedures. Additionally, ten studies included samples with adults, for which paediatric data could not be isolated (n = 507). Overall, studies supported the efficacy of VR in managing procedural pain and anxiety in the paediatric setting. CONCLUSION: Virtual reality is redefining pain management by immersing children in a virtual world, reducing pain and anxiety at the hospital. A notable gap was the neglected use of VR in children with chronic conditions receiving orthopaedic procedures as part of their standard care. RELEVANCE TO CLINICAL PRACTICE: Ultimately, VR distraction will reduce the fear associated with medical interventions, preventing increased pain sensitivity, exacerbated anxiety and healthcare avoidance in adulthood. Nurses will play an important role in ensuring the smooth integration of VR in clinical practice by championing the technology and transferring evidence-based methods for VR use.

Retrograde Application of Humerus Fassier-Duval Rod in Osteogenesis Imperfecta: A New Surgical Technique.

BACKGROUND: The aim of this study is to describe the technique of retrograde application of Fassier-Duval (FD) rod for the humerus in patients with osteogenesis imperfecta (OI). This technique was developed to overcome the downsides of the previously used techniques of humerus rodding. METHODS: The study was done at a tertiary care pediatric orthopaedic hospital from April 2014 to August 2021. Skeletally immature patients with OI who underwent retrograde FD rodding were included. This surgery was performed for humeral shaft fractures/bowing limited to the distal half of the bone to ensure appropriate stability of the fixation. Surgical technique of the procedure is described in detail. RESULTS: Six patients with OI, of which 2 (33.3%) had FD rodding bilaterally, were included. The mean age at rodding was 7.6±3.5 (range: 3 to 14) years. The mean duration of postoperative follow-up was 45.5±18.0 (range: 24 to 75) months. All patients had full healing of the fracture/osteotomy, with functional alignment of their humeri. No surgical complications were observed; however, 1 (12.5%) segment only had a traumatic humerus fracture following a fall that was associated with rod migration, occurring 60 months postoperatively. This was treated with a retrograde FD rodding again, with fracture augmentation with plate and screws. CONCLUSIONS: The retrograde FD rodding technique of the humerus in OI patients is relatively simple and preserves the soft tissue surrounding the shoulder joint, with favorable outcomes. Studies with larger sample size and long-term follow-up duration are needed. LEVEL OF EVIDENCE: Level IV-case series.

Relationship between lower limb strength and walking capacities in children with spastic bilateral cerebral palsy.

PURPOSE: Evaluate the relationship between different walking capacities and muscle strength in children with bilateral cerebral palsy (BCP) and assess these relationships in stronger and weaker children. MATERIALS AND METHODS: Thirty-two children with spastic BCP were included. All participants walked under three speed conditions: comfortable, fast, and for a longer period (6 min). Walking speeds, Energy Expenditure Index (EEI), and lower limb muscle strength were measured. A global strength index (GSI) was computed as the sum of each muscle group strength. Pearson's coefficient and regression models were computed between walking capacities and the GSI. RESULTS: GSI was correlated with the EEI and all walking speeds. Logarithmic regressions models explained between 24 and 34% of the variance of walking capacities. Then, the group was divided in two subgroups (weaker and stronger children). GSI was correlated with comfortable and endurance waking speed in weaker children, but not in stronger children. CONCLUSION: This study reports logarithmic relationship between muscle strength and walking capacities in children with BCP. The subgroup analysis implies that muscle strength has an impact on walking capacities solely in weaker children, suggesting that muscle strength must be preserved and reinforced in interventions targeting motor function in weaker children with BCP.Implications for rehabilitationIn a sample of children with spastic bilateral cerebral palsy, this study shows that global muscle strength is associated with walking capacities and the relationship seems more complex than linear.Based on the results, interventions should focus on maintaining or improving muscle strength in weaker children as no association was observed between muscle strength and walking capacities in stronger children.In stronger children, intervention should focus on factors other than muscle strength as it does not influence walking capacities.Based on this study, a more accurate screening of children who could benefit from strength training could be completed by initial global muscle strength.

Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System.

Aim: To describe the surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System (Orthofix Medical Inc., Lewisville, TX, USA). Background: Brachymetatarsia refers to the shortening of the metatarsal bone. When indicated, metatarsal lengthening is performed to treat this deformity. Technique: A dorsal approach to the short metatarsal is performed, protecting the neurovascular structures and the extensor tendons. The most proximal wire or screw is inserted first, followed by the most distal wire or screw. The distal wire or screw should not be inserted in the metatarsal head. The middle wires or screws are inserted thereafter. All wires or screws should be placed perpendicular to the anatomic axis of the bone. Once the MiniRail lengthener is assembled, a 1.6 mm K-wire is inserted from the tip of the toe into the metatarsal head, blocking the motion of the metatarsophalangeal joint and avoiding joint subluxation during lengthening. The osteotomy is then performed perpendicular to the metatarsal shaft, in between the middle two wires and screws. Conclusion: The surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System was described in detail with accompanying step-by-step intraoperative clinical and fluoroscopic images. Clinical significance: This surgical technique of metatarsal lengthening is simple and effective. An understanding of the surgical technique of gradual lengthening of the metatarsal bone is important when treating shorting deformities of more than 1 cm. How to cite this article: Marwan Y, Abu Dalu K, Bernstein M, et al. Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System. Strategies Trauma Limb Reconstr 2022;17(3):184-188.

Humerus Lengthening with a Motorized Intramedullary Nail: A Systematic Review of Outcomes and Complications.

Aim: In the past decade, internal limb lengthening nails have gained popularity. In this study, we aim to systematically review the literature on humerus limb lengthening with a motorized intramedullary nail (MIN). We intend to assess the outcome and complications of this technique. Materials and methods: A systematic review was performed in the following databases: PubMed, Embase, Web of Science, and the Journal of Limb Lengthening and Reconstruction. The inclusion criteria included limb lengthening of the humerus using an intramedullary nail, clinical studies, all levels of evidence, and no restriction to the date of publication. Results: Our search yielded 239 journal articles. A total of nine articles remained relevant based on the inclusion and exclusion criteria. The total number of patients was 20, with 22 segments lengthened. The mean age of the patients was 20.8-year-old [standard deviation (SD), 12.0; range, 13-51]. The mean gained length was 5.7 cm (SD, 0.9; range, 5-7.5) with a mean distraction protocol of 0.82 mm/day (SD, 0.2; range, 0.6-1). The average duration of lengthening was 71.6 days (SD, 12.8; range, 50-93), and the mean duration of consolidation was 192.3 days (SD, 40.5; range, 120-228). Reported complications included a range of motion (ROM) limitation, hardware failure, and hypertrophic bone regeneration. Conclusion: Humeral lengthening with an MIN provides favourable outcomes with low complication rates. Future high-level studies should focus on comparing long-term outcomes of humeral lengthening utilising internal and external fixation techniques. Clinical significance: Humeral lengthening using MIN can be used safely. Each surgical approach and type of nail have different risks and benefits. These should be carefully discussed when planning the surgery. How to cite this article: Lorange JP, Alamiri N, Marwan Y, et al. Humerus Lengthening with a Motorized Intramedullary Nail: A Systematic Review of Outcomes and Complications. Strategies Trauma Limb Reconstr 2022;17(3):165-171.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

BACKGROUND: Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fetal movement. It is divided into prenatally lethal (LMPS, MIM253290) and nonlethal (Escobar variant MPS, MIM 265000) types. Developmental spine deformities are common, may present early and progress rapidly, requiring regular fo llow-up and orthopedic management. METHODS: Retrospective chart review and prospective data collection were conducted at three hospital centers. Molecular diagnosis was confirmed with whole exome or whole genome sequencing. RESULTS: This case series describes the clinical features and scoliosis treatment on 12 patients from 11 unrelated families. A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG. Scoliosis was present in all but our youngest patient. The remaining 11 patients spanned the spectrum between mild (curve ≤ 25°) and malignant scoliosis (≥50° curve before 4 years of age); the two patients with MYH3 mutations presented with malignant scoliosis. Bracing and serial spine casting appear to be beneficial for a few years; non-fusion spinal instrumentation may be needed to modulate more severe curves during growth and spontaneous spine fusions may occur in those cases. CONCLUSIONS: Molecular diagnosis and careful monitoring of the spine is needed in children with MPS.

Using Telerehabilitation to Deliver a Home Exercise Program to Youth With Arthrogryposis: Single Cohort Pilot Study.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures and muscle weakness, which limit daily activities. Youths with AMC require frequent physical therapeutic follow-ups to limit the recurrence of contractures and maintain range of motion (ROM) and muscle strength; however, access to specialized care may be limited because of geographical distance. Telerehabilitation can offer a potential solution for delivering frequent follow-ups for youth with AMC, but research on the use of telerehabilitation in children with musculoskeletal disorders is scarce. OBJECTIVE: The study aims to evaluate the feasibility of delivering a home exercise program (HEP) by using telerehabilitation for youth with AMC. We also aim to explore the effectiveness of the HEP as a secondary aim. METHODS: Youths aged between 8 and 21 years with AMC were recruited at the Shriners Hospitals for Children-Canada. The participants completed baseline and post-HEP questionnaires (the Physical Activity Questionnaire for Adolescents, Pediatrics Outcomes Data Collection Instrument, and Adolescent and Pediatric Pain Tool), and clinicians assessed their active ROM using a virtual goniometer. Clinicians used the Goal Attainment Scale with the participants to identify individualized goals to develop a 12-week HEP and assess the achievement of these goals. Follow-ups were conducted every 3 weeks to adjust the HEP. Data on withdrawal rates and compliance to the HEP and follow-ups were collected to assess the feasibility of this approach. The interrater reliability of using a virtual goniometer was assessed using the intraclass correlation coefficient and associated 95% CI. Nonparametric tests were used to evaluate feasibility and explore the effectiveness of the HEP. RESULTS: Of the 11 youths who were recruited, 7 (median age: 16.9 years) completed the HEP. Of the 47 appointments scheduled, 5 had to be rescheduled in ≤24 hours. The participants performed their HEP 2.04 times per week (95% CI 1.25-4.08) and reported good satisfaction with the approach. A general intraclass correlation coefficient of 0.985 (95% CI 0.980-0.989) was found for the web-based ROM measurement. Individualized goals were related to pain management; endurance in writing, standing, or walking; sports; and daily activities. In total, 12 of the 15 goals set with the participants were achieved. Statistically significant improvements were observed in the pain and comfort domain of the Pediatrics Outcomes Data Collection Instrument (preintervention: median 71; 95% CI 34-100; postintervention: median 85; 95% CI 49-100; P=.08) and Physical Activity Questionnaire for Adolescents (preintervention: median 1.62; 95% CI 1.00-2.82; postintervention: median 2.32; 95% CI 1.00-3.45; P=.046). CONCLUSIONS: The remote delivery of an HEP for youth with AMC is feasible. Promising results were found for the effectiveness of the HEP in helping youths with AMC to achieve their goals. The next step will be to assess the effectiveness of this exercise intervention in a randomized controlled trial. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/18688.

Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta.

Maximizing ambulation is a key treatment aim in moderate to severe osteogenesis imperfecta (OI). Here we investigated which early clinical characteristics predicted ambulation function at skeletal maturity. We assessed Bleck ambulation scores in 88 individuals with OI at 5 to 6 years of age and again at final height (at 15 to 24 years of age). At 5 to 6 years of age, 33 (38%) children were non-ambulators, 32 (36%) were fully independent ambulators, and 23 (26%) had intermediate ambulation skills. At skeletal maturity, 58% of the study participants had the same mobility level as at first assessment. The ability to ambulate independently at skeletal maturity was predicted by independent ambulation at 5 to 6 years (odds ratio [OR] 22.6, 95% confidence interval [CI] 4.9-105; P < 0.001), height z score at 5 to 6 years (OR 3.1, CI 1.6-6.3; P = 0.001) and weight z score at 5 to 6 years (OR 0.44, CI 0.19-0.99; P = 0.04).Conclusion: Independent ambulation at 5 to 6 years was the main determinant of independent ambulation at skeletal maturity. This highlights the importance of maximizing ambulation in children below 5 years of age. What is Known: •walking ability varies markedly between OI types. The highest level of mobility was found in OI type I, the lowest in OI type III who require mobility aids; intermediate levels were reported for OI type IV. • OI type is a key predictor of ultimate ability to ambulate, whereas the timing of developmental milestones was not associated with walking ability What is New: • overall key predictors of mobility function at skeletal maturity were mobility status and height z-score at 5-6 years of age • Childrenwho were non-ambulators at 5 to 6 years of age had a higher chance of having better mobility at skeletal maturity if they had good upper extremity function, as expressed in the PEDI Self Care Score.