A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.

PURPOSE: Arthrogryposis multiplex congenita (AMC) refers to a large heterogeneous group of conditions involving joint contractures in two or more different areas of the body. Contractures can lead to decreased range of motion and strength, and affect ambulation and autonomy. The aim of this study was to describe the orthopedic interventions and functional outcomes of a large cohort of children with AMC followed in a pediatric orthopedic center. METHODS: A retrospective chart review of all children diagnosed with AMC followed at Shriners Hospital for Children - Canada (SHC) between January 1979 and July 2016 was conducted. One hundred twenty patients were identified, of whom six were excluded due to misdiagnosis or insufficient chart information. One hundred fourteen were retained. Patient demographics, AMC classification, comorbidities, operative and non-operative treatments received as well as community ambulation status, level of autonomy in self-care and transfers at latest follow-up were recorded. RESULTS: There were 54 males and 60 females with a mean age at last clinic visit of 10 years 3 months. Amyoplasia and distal arthrogryposis (DA) were equally represented in our sample, 47 (41.2%) and 49 (43.0%) participants respectively, with the category Other comprising the remaining 18 (15.8%) participants. Children with DA had less involvement of the proximal joints than those in the two other groups. Contractures and deformities of the foot and ankle were the most prevalent, affecting 91.5% with Amyoplasia, 85.7% with DA and 83.3% in the Other category. Contractures of the shoulder and elbow were more common among individuals with Amyoplasia and those categorized Other than those with DA. In terms of walking ability, 98% of participants with DA were independent ambulators. Walking ability varied among the Other participants. Similarly, most children with DA were independent in self-care and transfers at the most recent follow-up. CONCLUSION: The relatively large sample size of this study allowed for a better insight into the challenges associated with AMC management. These findings demonstrated the need for genetic testing to provide accurate diagnosis and classification, along with the use of standardized outcome tools to measure effectiveness of interventions. As AMC is rare, multi-site prospective studies are needed to improve research opportunities, develop functional measures specific to AMC and disseminate findings on a wider scale.

Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle.

Knee-flexion deformity in arthrogryposis multiplex congenita is treated by serial casting into extension, distal femoral osteotomies, distal femoral-guided growth, hemiepiphysiodesis, external fixation, capsulotomy, and soft-tissue releases. We are aware of four cases treated by distal anterior femoral-guided growth with tension band plates in which an unreported complication occurred: the screws of the tension band plates penetrated the posterior cortex of the femur during remodeling with metaphyseal funnelization risking the neurovascular bundle. Inclusion criteria were cases with arthrogryposis multiplex congenita and knee-flexion deformity, treatment at our institution by distal anterior femoral-guided growth with tension band plates, and radiographic evidence of posterior cortex screw penetration during remodeling from growth. Six knees (four cases) met the inclusion criteria. The average age at the distal anterior femoral-guided growth with tension band plate operation was 5.8 years. Radiographs after 6.6 years of follow-up showed that the screws of the tension band plates, which at surgery were intrametaphyseal, had penetrated the posterior cortex of the femur. Four knees (two cases) had diffuse pain around the knee to lower leg area, and instrumentation removal alleviated the symptoms. During distal anterior femoral-guided growth with tension band plate operation for knee-flexion deformity in arthrogryposis multiplex congenita, we found that the screws of the tension band plates, which were initially located inside the metaphysis, may protrude through the posterior bone cortex during metaphyseal funnelization with growth, and may encroach upon the neurovascular tissues. Level of evidence: Level IV - case series.

Collaborating to advance interdisciplinary care for individuals with arthrogryposis.

This Special Issue on Interdisciplinary Care in Arthrogryposis highlights a collection of articles spanning topics in interdisciplinary care, genetic discoveries, and clinical research. An international group of clinicians and researchers from various backgrounds who attended the "3rd International Symposium on Arthrogryposis", held in Philadelphia, September 24-26, 2018, were invited to contribute to this issue. The goal of the 2018 Symposium and of this Special Issue is to provide momentum to advancing evidence-based practice and research in arthrogryposis, by working collaboratively with adults and families of children with arthrogryposis, clinicians, and researchers. The contents of this issue cover a range of topics from defining and classifying arthrogryposis multiplex congenita to early detection, rehabilitation, and orthopedic management, advances in genetic pathways, patient registries, autopsy guidelines, and research findings in the pediatric and adult populations with arthrogryposis. We hope that this issue provides an overview as well as new knowledge on arthrogryposis to generate more conversations at the international level, and advance care and research for individuals with arthrogryposis.

Rehabilitation across the lifespan for individuals with arthrogryposis.

Arthrogryposis multiplex congenita (AMC) can be a perplexing diagnosis that consists of limited range of motion (ROM) and decreased muscle strength in multiple joints. The person with AMC often possesses a certain tenacity and "spunk" that assists them with adjusting and adapting to the realities of daily life. The rehabilitation process assists the individual with AMC in achieving and maintaining the maximal active and passive range of motion and strength in order to participate in activities of daily living (ADL) throughout the developmental stages. The result of this life-long process is greatly impacted by collaboration among the multidisciplinary teams. Ultimately, rehabilitation should focus on three levels of treatment: (a) body structure, (b) activity, and (c) participation. This article describes rehabilitation across the lifespan-focusing on the therapeutic needs in the infant, toddler, school age and teenage/adult years-while also highlighting opportunities for improvement.

Health-related quality of life and orthosis use in a Swedish population with arthrogryposis.

BACKGROUND: Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking. OBJECTIVES: To describe health-related quality of life in children with arthrogryposis multiplex congenita and satisfaction with orthoses in those using orthoses. STUDY DESIGN: Cross-sectional study. METHODS: A total of 33 children with arthrogryposis multiplex congenita participated in the study. Questionnaires were used which measured health-related quality of life (Child Health Questionnaire-Parent Form and EQ-5D youth), mobility and self-care (Paediatric Evaluation of Disability Inventory) and satisfaction with orthoses (Quebec User Evaluation of Satisfaction with Assistive Technology 2.0). Children were divided into groups based on the use of orthoses: Ort-D were dependent on orthoses for walking, Ort-ND used orthoses but were not dependent on them for walking and Non-Ort did not use orthoses. RESULTS: Children with arthrogryposis multiplex congenita had significantly lower Child Health Questionnaire scores in 9 of 12 subscales compared to healthy controls. The children's reported perceived health with EQ-5D youth did not show any difference between children using orthoses or children using only shoes. Paediatric Evaluation of Disability Inventory showed less mobility in Ort-D than in Non-Ort. In total, both orthosis groups were 'quite satisfied' with their orthoses. CONCLUSION: Child Health Questionnaire-physical functioning was lowest in children who were dependent on orthoses (Ort-D) for walking. Both Ort-D and Ort-ND were similar satisfied with their orthoses. Clinical relevance This study contributes to knowledge about health-related quality of life in a group of ambulatory children with arthrogryposis multiplex congenita. For children using orthoses, it is relevant to capture their opinion about their orthoses but a questionnaire specifically for children should be developed.

Design and development of the first exoskeletal garment to enhance arm mobility for children with movement impairments.

Children with a variety of diagnoses have impairments that limit their arm function. Despite the fact that arm function is important for early learning and activities of daily living, there are few tools to assist movement for these children, and existing devices have challenges related to cost, accessibility, comfort, and aesthetics. In this article, we describe the design process and development of the first garment-based exoskeleton to assist arm movement in young children with movement impairments: the Playskin LiftTM. We outline our design process, which contrasts with the traditional medical model in that it is interdisciplinary, user-centered, and addresses the broad needs of users, rather than device function alone. Then we report the results of field-testing with the initial prototype with respect to our design metrics on a toddler with significant bilateral arm movement impairments. Finally, we summarize our ongoing development aimed at increasing comfort, aesthetics, and accessibility of the garment. The interdisciplinary, user-centered approach to assistive technology design presented here can result in innovative and impactful design solutions that translate to the real world.

Feasibility and Effectiveness of a Novel Exoskeleton for an Infant With Arm Movement Impairments.

PURPOSE: To determine whether a novel exoskeletal device (Pediatric-Wilmington Robotic Exoskeleton [P-WREX]) is feasible and effective for intervention to improve reaching and object interaction for an infant with arm movement impairments. METHODS: An 8-month old infant with arthrogryposis was followed up every 2 weeks during a 1-month baseline, 3-month intervention, and 1-month postintervention. At each visit, reaching and looking behaviors were assessed. RESULTS: Within sessions, the infant spent more time contacting objects across a larger space, contacting objects with both hands, and looking at objects when wearing the P-WREX. Throughout intervention, the infant increased time contacting objects both with and without the device and increased bilateral active shoulder flexion. CONCLUSIONS: (1) It may be feasible for families to use exoskeletons for daily intervention, (2) exoskeletons facilitate immediate improvements in function for infants with impaired upper extremity mobility, and (3) interventions using exoskeletons can improve independent upper extremity function across time.

Playskin Lift: Development and Initial Testing of an Exoskeletal Garment to Assist Upper Extremity Mobility and Function.

BACKGROUND: A person's ability to move his or her arms against gravity is important for independent performance of critical activities of daily living and for exploration that facilitates early cognitive, language, social, and perceptual-motor development. Children with a variety of diagnoses have difficulty moving their arms against gravity. OBJECTIVE: The purpose of this technical report is to detail the design process and initial testing of a novel exoskeletal garment, the Playskin Lift, that assists and encourages children to lift their arms against gravity. DESIGN: This report details the design theory and process, the device, and the results of field testing with a toddler with impaired upper extremity function due to arthrogryposis multiplex congenita. RESULTS: The Playskin Lift is an inexpensive (<$30 material costs), easy to use (5/5 rating), comfortable (5/5 rating), and attractive (4/5 rating) device. While wearing the device, the child was able to contact objects more often throughout an increased play space, to look at toys more while contacting them, and to perform more complex interactions with toys. LIMITATIONS: This report details initial testing with one child. Future testing with more participants is recommended. CONCLUSIONS: These results suggest that by considering the broad needs of users, including cost, accessibility, comfort, aesthetics, and function, we can design inexpensive devices that families and clinicians can potentially fabricate in their own communities to improve function, participation, exploration, and learning for children with disabilities.

One-year follow-up study of serial orthotic treatment in two cases with arthrogrypotic syndromes who have bilateral knee flexion contractures.

BACKGROUND: The aim of this pilot study was to investigate the effectiveness of serial splinting in two children with bilateral knee flexion contractures due to arthrogrypotic syndrome. CASE DESCRIPTION AND METHODS: We evaluated the infants' passive knee extension limitation and motor development levels. Serial orthotic treatment was applied to decrease bilateral knee flexion contractures in the knees of the subjects. The follow-up period was up to 1 year. FINDINGS AND OUTCOMES: At the end of serial orthotic treatment, improvement in bilateral passive extension limitation (for the first case, the increase in passive range of extension was approximately 75°, for the second case it was 45°) was achieved in both cases. CONCLUSION: We believe that serial orthotic intervention is effective in patients with arthrogrypotic syndrome at the preoperative period or in patients who cannot be operated on. Further studies are needed for evaluation of effectiveness of this method. CLINICAL RELEVANCE: Our pilot study aimed to investigate the effectiveness of serial orthotic treatment in knee contractures due to arthrogrypotic syndrome in two infants which showed an improvement in range of extension.

A Case Report of an Infant With Arthrogryposis.

PURPOSE: This case report documents limitations of body structures and function, activity, and participation for an infant with arthrogryposis multiplex congenita and reports frequency and timing of interventions for this child. SUMMARY OF KEY POINTS: The infant was followed from 11 days to 9 months of age while receiving occupational therapy and physical therapy on alternating weeks, with orthopedic visits for lower extremity serial casting. Passive range of motion improved and pain scores decreased during passive range of motion. The Patient Specific Functional Scale score increased; The Peabody Developmental Motor Scales, 2nd edition, standard score decreased from 9 in locomotion and stationary skills to 3 in locomotion and 8 in stationary skills. RECOMMENDATIONS FOR CLINICAL PRACTICE: Outcomes demonstrate improvement in impairments of body structures and functions, participation, and some activities, through a program of stretching, strengthening, splinting, casting, and bilateral Achilles tenotomies for this infant with arthrogryposis multiplex congenita.

Hand therapy following elbow release for passive elbow flexion and long head of the triceps transfer for active elbow flexion in children with amyoplasia.

Children born with the Amyoplasia form of arthrogryposis multiplex congenita (AMC) who lack elbow flexor muscles and have elbow extension contractures usually require assistance in performing ADL's that require reaching their hand to their face, head, and upper body. For tasks involving the UE, the elbow is the key to functional independence. Children born with Amyoplasia may benefit from selective surgeries to enhance functional independence and improve quality of life. Home therapy and splinting following these surgeries is an important part of gaining motion and improving function. This abstract will review the rehab and splinting following an elbow release to gain passive elbow flexion, and a long head of the triceps transfer for active elbow flexion in children with Amyoplasia.

Arthrogryposis in infancy, multidisciplinary approach: case report.

BACKGROUND: Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial. CASE PRESENTATION: We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved. This article proposes a cooperation of various specialists: paediatrician, orthopaedist, specialist of medical rehabilitation and physiotherapist. CONCLUSIONS: Rehabilitation of a child with arthrogryposis should be early, comprehensive and multidisciplinary. Corrective treatment of knee and hip joints in infants with arthrogryposis should be preceded by the ultrasound control. There are no reports in the literature on the ultrasound imaging techniques which can be used prior to the planned orthopaedic and rehabilitative treatment in infants with arthrogryposis. The experience of our team indicates that such an approach allows to minimise the diagnostic errors and to maintain an effective treatment without the risk of joint destabilisation.

Proceso rehabilitador de artrogriposis múltiple congénita / Processus de rééducation après une arthrogrypose multiple congénitale / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

Le cas d'une patiente de la race blanche, d'un quotient intellectuel de 90, communicative, collaboratrice, atteinte d'arthrogrypose multiple congénitale, avec possible compromis organique, une discrète dyslalie, sans altérations visuelles ni auditives, sans domaine motrice, est présenté en 2004 à l'équipe de rééducation de l'hôpital Frank Pais, à La Havane. L'objectif est d'évaluer le résultat des traitements psychothérapiques et de rééducation. Tout le processus initial de rééducation contenu dans la stratégie pluridisciplinaire pour soigner la patiente a été décrit, en débutant par des thérapies d'appui psychologique intégral, des exercices de respiration et entraînement familial; deux mois après, une combinaison d'agents physiques, thermothérapie, massage, électrothérapie et kinésithérapie a été utilisée de façon séquentielle. Il y a eu une complication des fléchisseurs du genou conduisant à une deuxième opération. La stratégie de rééducation a continué depuis 4 mois jusqu'à présent ayant des effets positifs sur son amour-propre et confiance en elle-même pour réaliser les activités de son traitement et de sa vie quotidienne, telles que se brosser les dents, se peigner, s'habiller, déambuler et se communiquer avec ses voisins, amis et famille. Grâce au traitement planifié, sa récupération a été très bonne (80 pourcent), et sa qualité de vie et réinsertion à la société excellentes(AU)

Wrist fusion in patients with severe quadriplegic cerebral palsy.

We report clinical and radiographic outcomes of wrist fusion achieved with pin or plate fixation in 14 patients with severe quadriplegic cerebral palsy (CP) (19 wrists). Average patient age at the time of surgery was 16.8 ± 1.7 years (14-20 years). Mean follow-up time for the 14 patients was 5.9 ± 3.1 years (range, 1-11 years). Indication for surgery was severe wrist deformity that interfered with hygienic care. Few complications occurred, and outcomes were satisfactory. Statistically significant mean difference was shown between the pre- and postoperative radiographic angles (37°, P = 0.001, and 24°, P = 0.04, for lateral and anteroposterior views, respectively). Caregivers reported that appearance was the most perceived rationale for surgery (63 %). Improved hygienic care was the primary perceived benefit. The majority (88 %) were satisfied with the results. We recommend wrist fusion to improve hygienic care, positioning, and appearance of the wrist, hand, and fingers in patients with severe quadriplegic CP.

[The role of the continuous brachial plexus blockades in the treatment of the ulnar joints contractures in children with arthrogryposis].

There was evaluated the influence of continuous peripheral brachial plexus blockades, used in the structure of conservative treatment of the elbow joint contractures in children suffering from arthrogryposis. The quality of the blockades analgesic component during the active rehabilitation treatment was evaluated on the basis of clinical manifestations and scores of pain intensity on the visual-analogue scale. In all the studied patients due to the adequate blockade of pain impulses managed to achieve a state of comfort during surgical procedures. Obtained significant differences in the rate of blood flow volume at a blocked limbs in comparison with the healthy. Enumerated data made it possible to achieve positive results in the conservative treatment of elbow joints contractures.

Walking stride rate patterns in children and youth.

PURPOSE: To describe walking activity patterns in youth who are typically developing (TD) using a novel analysis of stride data and compare to youth with cerebral palsy (CP) and arthrogryposis (AR). METHOD: Stride rate curves were developed from 5 days of StepWatch data for 428 youth ages 2 to 16 years who were TD. RESULTS: Patterns of stride rates changed with age in the TD group (P = .03 to < .001). Inactivity varied with age (P < .001); peak stride rate decreased with age (P < .001). Curves were stable over a 2-week time frame (P = .38 to .95). Youth with CP and AR have lower stride rate patterns (P = .04 to .001). CONCLUSION: This is the first documentation of pediatric stride-rate patterns within the context of daily life. Including peak stride rates and levels of walking activity, this single visual format has potential clinical and research applications.