Arthrogryposis

The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.

Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Arthrogryposis in a compact format. The editors have built Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Arthrogryposis in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

"1 Clinical history, clinical correlations with placental pathology and prematurity The initial steps in the process of perinatal nervous system evaluation, namely the planning of the optimal approach and choice of samples to be obtained, are driven by the clinical context. Of key importance are the following data: a. Gestational age at time of demise (if stillborn); or gestational age and postnatal age (if liveborn), for comparison with normative standards of development (see Appendix); b. State of maternal health (age, parity, pre-existing medical conditions or ones appearing during gestation or around the time of delivery, exposure to medications/toxins/infections), and of health of siblings or other family members: - Concerns for inherited (i.e., genetic) conditions, metabolic disorders, congenital infections, etc., may indicate the need for special testing; c. Details of prenatal course, including any imaging, amniocentesis, or monitoring: - Prenatal imaging modalities most commonly consist of transabdominal ultrasonography, generally done at the time of the first prenatal visit (to confirm pregnancy) or more usually in the mid-second-trimester for detection of fetal or placental anomalies"--

Introduction: Arthrogryposis multiplex congenita (AMC) defines congenital contractures involving two or more body areas. The prevalence is estimated between 1/3000 and 1/12000. More than 400 conditions may lead to AMC through foetal hypo/a-kinesia, making the aetiological diagnosis challenging. The objective of this work was to describe the aetiological management of children with AMC and to propose recommendations in order to optimize clinical practices. Material and methods: We conducted a retrospective single centre observational study. Patients had been evaluated at least once at a paediatric age in Grenoble University Hospital from 2007 to 2019. After determining the diagnostic status of these patients, data on their diagnostic procedure were gathered. A literature review was performed for each paraclinical investigation to discuss their relevance in the light of patients' diagnoses, scientific knowledge, and benefit/risk or cost/benefit ratio. Results: 125 patients were included, 43% had Amyoplasia, 26% had distal arthrogryposis, and 31% had other forms. A definitive aetiological diagnosis was available for 63% of cases. We propose a two-time diagnostic process : first, non-invasive investigations that aim at classifying patients into one of the three groups, and then specific investigations targeting a subset of patients according to the expected yield and invasiveness. Conclusion: The diagnostic management of AMC patients has to result from a multidisciplinary approach. With the use of next generation sequencing, the aetiological assessment will be facilitated, but a relevant phenotyping will be paramount to guide their interpretation.

Arthrogryposis is a heterogeneous condition, evident from birth, which can be defined as multiple contractures of the joints. The etiology is multifold: genetic disorders of the central or peripheral nervous system, or of the connective tissue leading to decreased fetal movements, and vascular and environmental causes. The problem begins in utero. There may be overlapping conditions between sporadic, syndromic, neurogenic, myopathic and metabolic types. The workup should include a family tree. Systemic involvement, for example of the renal and pulmonary systems, may be encountered in associated syndromes. Motor neuron disorders leading to the condition are the most commonly seen type. Fetal or neonatal akinesia/hypokinesia is at the severe end of the spectrum, in which there is literally intrauterine limitation of movement. Children with amyplasia are born with little or diminished muscle bulk of the extremities. Distal arthrogryposis is almost always a dominantly inherited condition. A multidisciplinary care approach is required in order to provide optimum healthcare. The management team should include a nutritionist and a physiotherapist. Genetic counseling is possible in most instances. A truly genetic cause can be identified in more than 50% of cases. Survivors, though handicapped, can lead near normal lives.

"Background: Arthrogryposis multiplex congenita (AMC) is a term used to describe the presence of congenital joint contractures in two or more body areas, and affects 1 in 4300 live births. AMC is associated with limited joint range of motion (ROM) and muscle weakness leading to functional limitations in daily activities. Interventions for AMC aim at improving function and mobility. Different types of assessments and interventions are used with this population and different viewpoints exist about the best timing and type of intervention. Methods: The first phase of the thesis consisted of a scoping review aiming at identifying how muscle and joint functions are evaluated and treated among children with AMC. A search in four different databases was conducted. Identified articles were reviewed according to the following selection criteria: (a) published in French or English; (b) include children (0 to 21 years); (c) include any type of AMC; (d) describe muscle and joint function; (e) describe surgical procedure or conservative intervention. The general information, methods, results, and conclusions were extracted and findings were synthesized.The second phase of the thesis consisted in developing a 12-week individualized home exercise program (HEP) for youths with AMC and delivered remotely. At baseline and at the end of the intervention, participants completed online standardized questionnaires related to physical activity (PAQ-A), functional status (PODCI) and pain (APPT). A physical therapist and an occupational therapist performed a remote assessment with participants. ROM were measured with a virtual goniometer. The Goal Attainment Scale (GAS) was used to identify individualized goals to develop a 12-week HEP. Different feasibility criteria such as withdrawal rates, compliance to the HEP and to the follow-ups were collected. Pre- and post-results on the PAQ-A, PODCI and APPT and the results from the GAS were used to explore the effectiveness of the intervention.Results: In the scoping review, 87 studies were included. Joints were studied in all studies whereas muscles were studied in 30 studies. Bony surgery was the most common surgery and rehabilitation the most common conservative intervention. It was found that surgery was well detailed when conservative interventions were not and that better studies were needed to develop guidelines. In the telerehabilitation study, seven participants (median: 16.9 years) completed the intervention. Results showed that, besides poorer than expected recruitment rates, telerehabilitation is a feasible approach to deliver therapeutic intervention in this population. For the effectiveness, based on the GAS, 12 of the 15 objectives set were achieved. Significant improvements were observed in the pain and comfort domain of the PODCI (p=0.08) as well as in the PAQ-A (p=0.03). Conclusions: Performing research in individuals with rare disorders is difficult, among other reasons, because of the remoteness of the patients. The use of telerehabilitation is a step forward to improve access to adjunct therapies otherwise not possible to develop and deliver. Telerehabilitation will also help developing innovative research projects with sufficient power and sample size through facilitating multicenter studies which will increase representation of findings and lead to developing guidelines for key stakeholders. Exercise has the potential to help individuals with AMC achieve their goals and should be examined in a randomized control trial"--