The Effectiveness of Serial Casting in the Treatment of Recurrent Equinovarus in Children With Arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures in 2 or more body areas, often resulting in clubfoot deformities that are typically stiffer than those seen in idiopathic clubfoot deformities. While surgery is routinely used to treat clubfoot in AMC, it has a high rate of recurrence and complications. Current literature suggests serial casting (SC) could be useful in treating clubfoot in AMC, though evidence of its effectiveness is limited. METHODS: Passive range of motion (PROM), dynamic foot pressure, parent-reported Pediatric Outcomes Data Collection Instrument, brace tolerance, and the need for post-casting surgery were evaluated retrospectively in children with AMC treated with SC to address clubfoot deformities. Analysis of variance or paired t tests were used as appropriate on pre-casting, short-term (within 6 mo after SC) and/or longer-term (6 to 18 mo after SC) parameters to determine the effectiveness of SC. Brace tolerance before and after SC was analyzed using the Global Test for Symmetry, and medical records were reviewed to determine the need for surgery post-SC. RESULTS: Forty-six children (6.1±3.1 y old) were cast an average of 2.5±1.9 times, resulting in 206 SC episodes. PROM showed improvement in ankle dorsiflexion and forefoot abduction in the short term (P<0.05), returning to baseline measurements in the long term (P=0.09). Brace tolerance improved after casting (P<0.05). Only 15% of feet required surgery at follow-up at 10.3±5.5 years. There were no significant changes in dynamic foot pressure or Pediatric Outcomes Data Collection Instrument results after SC, except for an increase in the pain subtest (P<0.05). CONCLUSIONS: Serial casting in children with AMC can be effective in temporarily improving PROM and improving brace tolerance, but it does not impact dynamic barefoot position. Positive impact of conservative management in children with AMC can potentially delay or reduce the need for invasive surgical intervention by improving PROM and brace tolerance. LEVEL OF EVIDENCE: Level III, Retrospective Comparative Study.

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.

Test-retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita.

BACKGROUND: Most individuals with arthrogryposis multiplex congenita, a rare condition characterized by joint contractures in ≥ 2 body regions, have foot and ankle involvement leading to compromised gait and balance. The purpose of this study was to establish between-days, test-retest reliability for performance-based outcome measures evaluating gait and balance, i.e., the 10-m Walk Test, Figure-of-8 Walk Test, 360-degree Turn Test, and modified Four Square Step Test, among adolescents and adults with arthrogryposis multiplex congenita. METHODS: This reliability study included ambulatory participants, aged 10 to 50 years, with a medical diagnosis of arthrogryposis multiplex congenita. Participants completed performance-based measures, in a randomized order, on two separate occasions. Intraclass correlation coefficients with 95% confidence intervals and minimal detectable changes at the 90% and 95% confidence level were calculated. RESULTS: Participants included 38 community-ambulators with a median of 13 out of 14 upper and lower joint regions affected. Intraclass correlation coefficient point estimates and 95% confidence intervals ranged from .85-.97 and .70-.98, respectively. Minimal detectable changes were 10 to 39% of sample means and were largest for the modified Four Square Step Test. CONCLUSIONS: Among individuals with arthrogryposis, gait speed per the 10-m Walk Test, as well as non-linear walking and dynamic balance assessment per the Figure-of-8 Walk and 360 Degree Turn Tests, have adequate test-retest reliability enabling evaluation of individual patient changes. Changes in groups of ambulatory individuals with arthrogryposis multiplex congenita may be reliably evaluated with all of the studied outcome measures.

Arthrogryposis multiplex congenita and limitation of mouth opening: Presentation of a case and review of the literature.

Arthrogryposis multiplex congenita (AMC) is a rare entity gathering many diseases, isolated or included in more global syndromes. It affects symmetrically joints of lower limbs, back and maxillofacial area with temporomandibular joint (TMJ) impairment leading to deterioration of oral functions and mouth opening resulting in poor quality of life. Therapeutic strategy varies according to type and severity of impairment and could involve physical therapy and/or surgery. This article reported a case of AMC followed in our unit and highlighting various maxillo-facial impairments, especially restricted mouth opening and its consequences due to fibrotic TMJ and hypertrophic coronoid processes. We described our therapeutic approach based on surgery and postoperative physical therapy. A stable improvement of mouth opening was obtained, and patient's quality of life was increased. We performed a review of the literature and suggested a therapeutic management of mouth opening limitation in AMC.

Arthrogryposis Multiplex Congenita.

Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnoses characterized by multiple congenital joint contractures. The root cause of AMC is decreased fetal movement in-utero, whether resulting from maternal or pregnancy influences, nervous system pathology, or an underlying genetic abnormality. Prenatal diagnosis via ultrasonography can be challenging and may require additional imaging techniques or studies. After birth, these infants may require assistance breathing and feeding depending on the underlying diagnosis. Physical therapy and surgical intervention of the contractures are the mainstays of therapy, and outcomes can be good when intervention is provided in a timely manner. Those infants with syndromic causes of arthrogryposis are more likely to have poor outcomes; therefore, determining the underlying etiology for AMC is important as this can influence counseling regarding individual prognosis as well as future pregnancies. [Pediatr Ann. 2020;49(7):e299-e304.].

The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis.

BACKGROUND: The Ponseti method effectively treats idiopathic clubfoot, but its effectiveness in treating the stiffer clubfoot associated with arthrogryposis is less clear. The purpose of this study was to assess the comparative effectiveness of the Ponseti method in 5-year-old children with either idiopathic clubfoot or clubfoot due to arthrogryposis. METHODS: The outcomes of the Ponseti method were retrospectively evaluated in children with idiopathic clubfoot and clubfoot associated with arthrogryposis. The children with clubfoot were seen at our hospital between 2012 and 2019 and were 4.0 to 6.9 years old at the time of their evaluation. Outcomes of the 2 groups of children with clubfoot were assessed using passive range of motion, foot pressure analysis, the Gross Motor Function Measure Dimension-D, and parent report using the Pediatric Outcomes Data Collection Instrument. These results were also compared with the same measures from a group of typically developing children. Surgical and bracing history was also recorded. RESULTS: A total of 117 children were included (89 idiopathic clubfoot and 28 associated with arthrogryposis) with an average age of 4.8±0.8 years. The historical gait analyses of 72 typically developing children were used as a control, with an average age of 5.2±0.8 years. Significant residual equinovarus was seen in both children with idiopathic clubfoot and associated with arthrogryposis according to passive range of motion and foot pressure analysis when compared with normative data. Children with arthrogryposis demonstrated limited transfer and basic mobility, sports functioning, and global functioning while children with idiopathic clubfoot were significantly different from their typically developing peers in only transfer and basic mobility. CONCLUSIONS: Although children with idiopathic clubfoot continue with some level of residual deformity, the Ponseti method is effective in creating a pain-free, highly functional foot. In children with clubfoot associated with arthrogryposis, the Ponseti method is successful in creating a braceable foot that can delay the need for invasive surgical intervention. LEVEL OF EVIDENCE: Level III, Therapeutic Studies-Investigating the Results of Treatment.

Hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin sheaths by nerve biopsy. It is characterized genetically by the deletion of the chromosome 17p11.2-p12 region including the peripheral myelin protein-22 gene in the overwhelming majority of cases. HNPP may be frequently underdiagnosed or misdiagnosed owing to the heterogeneity of clinical and electrophysiological appearance. The main objective of this review is to describe clinical manifestations, paraclinical features such as electrodiagnostic, pathological, radiological and genetics findings, and possible treatments.

Orthopaedic care of the child with arthrogryposis: a 2020 overview.

PURPOSE OF REVIEW: The orthopaedic treatment of children with arthrogryposis multiplex congenita has evolved steadily over the past two decades. Interrelated factors have spurred this on, including better appreciation of the functional potential of persons with arthrogryposis, development of newer procedures specific for the arthrogrypotic deformities, and outcomes studies that provide understanding of the overall capabilities of adults with arthrogryposis and follow-up to determine which treatments were beneficial and which were not. This article briefly sketches out of some of these advances and indicates areas that need further development. RECENT FINDINGS: Outcome studies show that the majority of adults with arthrogryposis are ambulatory but less than half are fully independent. Adults frequently experience ongoing pain, particularly foot and back pain, limiting ambulation and standing. Advancements in the upper extremity treatment include improving elbow function, wrist repositioning, and improving thumb positioning. In the lower extremities, correction of hip and knee contractures leads to improved ambulatory potential, and treating clubfeet with serial casting decreases poor outcomes. SUMMARY: Clinical evaluation, both physical examination and assessment of the patient's needs, are important in directing treatment in arthrogryposis. Further outcomes studies are needed to continue to refine procedures and define the appropriate candidates.

Monogenic Forms of Hypertension.

Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). This article describes rare monogenic forms of hypertension, characterized by electrolyte disorders and suppressed renin-aldosterone axis. They represent simple models for the physiology of renal control of sodium levels and plasma volume, thus reaching a high scientific interest. Furthermore, they could explain some features closer to the essential phenotype of hypertension, suggesting a mechanistically driven personalized treatment.

Treatment and outcomes of arthrogryposis in the lower extremity.

In this multiauthored article, the management of lower limb deformities in children with arthrogryposis (specifically Amyoplasia) is discussed. Separate sections address various hip, knee, foot, and ankle issues as well as orthotic treatment and functional outcomes. The importance of very early and aggressive management of these deformities in the form of intensive physiotherapy (with its various modalities) and bracing is emphasized. Surgical techniques commonly used in the management of these conditions are outlined. The central role of a multidisciplinary approach involving all stakeholders, especially the families, is also discussed. Furthermore, the key role of functional outcome tools, specifically patient reported outcomes, in the continuous monitoring and evaluation of these deformities is addressed. Children with arthrogryposis present multiple problems that necessitate a multidisciplinary approach. Specific guidelines are necessary in order to inform patients, families, and health care givers on the best approach to address these complex conditions.

Treatment and outcomes of arthrogryposis in the upper extremity.

Upper extremity involvement in patients with arthrogryposis multiplex congentia is quite frequent. Treatment initially consists of stretching and splinting as significant gains can be seen in the first years of life. The goal of any surgical procedure is to improve upper extremity function and performance of daily living activities, yet it is important to treat each patient individually and understand that areas do not always need to be addressed surgically. Despite overall lower functioning scores in this patient population, quality of life scores are comparable to the general aged adjusted population. This article will discuss the clinical presentation, treatment procedures and outcomes when addressing the upper extremities of patients presenting with arthrogryposis.

Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population.

BACKGROUND Arthrogryposis multiplex congenita is a multifactorial syndromic or non-syndromic group of conditions consisting of multiple congenital contractures of the body, of unknown etiology. It is associated with a heterogenous group of disorders that include but are not limited to processes such as myopathic and neuropathic. Neural tube defect is a neuropathic disorder that incorporates myelomeningocele that might be either isolated or within a spectrum of multiple diseases. CASE REPORT This is a case report of a 28-day-old male born with lower limb arthrogryposis with myelomeningocele and Chiari II malformation in a Mediterranean population. CONCLUSIONS Lower extremity arthrogryposis with myelomeningocele and Chiari II malformation is a prenatal diagnosis that requires high clinical suspicion, early multidisciplinary intervention, and genetic counselling. As long as new approaches are being explored in the management of such cases, babies born now with neural tube defects can expect better quality of life.

Ortodoncia con sistema de alineación con placas en pacientes con discapacidad / Orthodontics with plate aligning system in disabled patients

En personas con discapacidad se presentan las enfermedades prevalentes de la cavidad bucal con mayor frecuencia. Dentro de éstas, las alteraciones oclusales, como el apiñamiento dentario, son muy frecuentes y se considera responsable de exacerbar la patología gingival, periodontal y la estética, con impacto en la salud bucodental y la calidad de vida de estos pacientes. La técnica basada en el uso de placas alineadoras es sencilla, no invasiva y fundamentalmente preventiva de la enfermedad buco-dental (AU)

Biplanar carpal wedge osteotomy in the treatment of the arthrogrypotic patients / Osteotomia intracárpica biplanar no tratamento de pacientes com artrogripose

ABSTRACT Objective: To describe the results of the surgical treatment of patients with congenital arthrogryposis with wrist deformity through biplanar carpal wedge osteotomy. Method: This study analyzed nine patients through a retrospective evaluation with severe deformity in flexion and ulnar deviation of the wrist in the period between January 2004 and December 2009. They were submitted to carpal osteotomy with a biplanar dorsal resection wedge, with a minimum evaluation of 48 months of postoperative evolution. In three patients the osteotomy was bilateral, totalling 12 cuffs analyzed. The indication for the technique described was deformity and stiffness for over six months, without improvement with the conservative treatment. Results: The mean age of the patients on the day of surgery was five years and eight months. The initial mean wrist mobility was 35°, and the joints presented a mean flexion of 72.5° in a resting position. Osteotomy union occurred in all patients at an average period of 5.7 weeks. The final position of the resting wrist was 12° of flexion and the mean mobility was 26.6°, slightly lower than preoperatively but in a much better position. No serious complications arising from surgery or in the immediate postoperative period were observed. Conclusions: Carpal osteotomy with biplanar dorsal resection wedge was useful and effective in helping to correct the deformities in flexion and ulnar deviation of the wrist, maintaining a reasonable mobility. It is a preservation surgery, which has low morbidity and avoids the progression of deformity and future degenerative changes.

RESUMO Objetivo: Descrever os resultados do tratamento cirúrgico de pacientes portadores de artrogripose congênita com deformidade do punho através da osteotomia intracárpica biplanar. Método: Por meio de uma avaliação retrospectiva, entre janeiro de 2004 e dezembro de 2009, o estudo avaliou nove pacientes com grave deformidade em flexão e desvio ulnar do punho por artrogripose submetidos a osteotomia intracárpica com cunha de ressecção dorsal biplanar, com avaliação mínima de 48 meses de evolução pós-operatória. Em três pacientes, a osteotomia foi bilateral, perfez 12 punhos analisados. A indicação da técnica descrita foi deformidade e rigidez havia mais de seis meses, sem melhoria com tratamento conservador. Resultados: A média de idade dos pacientes no dia da cirurgia foi de cinco anos e oito meses. A média de mobilidade inicial do punho foi de 35° e as articulações apresentavam 72,5° de flexão média em posição de repouso. Todas osteotomias consolidaram em um período médio de 5,7 semanas. A média da posição final do punho em repouso foi de 12° de flexão e a mobilidade média foi de 26,6°, ligeiramente inferior ao pré-operatório, porém mais bem posicionado. Não foram observadas complicações graves decorrentes da cirurgia ou no pós-operatório imediato. Conclusões: A osteotomia intracárpica com cunha de ressecção dorsal biplanar se mostrou útil e eficaz no auxílio da correção da deformidade em flexão e desvio ulnar do punho, com manutenção de uma mobilidade razoável. É uma cirurgia preservadora, com baixa morbidade e que evita a progressão da deformidade e alterações degenerativas futuras.

Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of conditions with multiple congenital contractures. These conditions may be attributed to genetic or other factors inducing decreased fetal movements, including maternal and paternal factors. Discovering the underlying genetic pathways has important repercussions for prevention, gene therapy and genetic counselling. The current literature mainly consists of small-scale, single-site studies, limiting comparability and pooling of findings across individual studies. A pilot registry for children presenting with AMC is proposed to provide the framework for a large-scale AMC registry. This registry will provide the platform to support high-quality studies to inform the distribution, clinical practice and genetics contributing to this group of conditions. METHODS AND ANALYSIS: The registry will be piloted on 40 families of children from birth to 21 years of age presenting with AMC. Data will be collected on the child (demographic and newborn variables), mother and father (demographic, lifestyle habits and medical history). To promote standardised data collection, a manual of operations will be developed. Descriptive statistics will be used to summarise relevant data, regression analyses will be used to explore associations to generate hypotheses regarding factors contributing to AMC. Qualitative analysis will also be used to better describe the various phenotypes. ETHICS AND DISSEMINATION: Ethics approval was obtained at the participating sites. The pilot registry will provide the platform for multisite AMC registry that will generate multiple research avenues to enhance current care and establish new therapies. Following this pilot study, the participant selection criteria will be refined and datasets will be expanded to include rehabilitation and surgical interventions, and genetic sequencing. The best timing for the questionnaire administration and frequency of follow-up prior to the implementation of a multisite AMC registry will be determined.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. CONCLUSION: ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.