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.

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.

Index rotation flap for palmar thumb release in arthrogryposis.

The soft tissue envelope in congenital contractural conditions such as clasped or arthrogrypotic thumbs is often deficient in 2 planes, the thumb-index web and the flexor aspect of the thumb. Small local transposition flaps borrow tissue from 1 plane to augment the other and are likely to worsen 1 contracture whereas improving the other. Tissue must be added to the thumb envelope from outside the contracted areas. A flap based on the index finger can be designed to both open the thumb-index web and augment skin on flexor aspect of the thumb metacarpophalangeal joint. This flap is particularly useful in the congenital contractural conditions that have the appearance of a small ptyerigium or increased skin in the dorso-palmar plane of the index finger. After a comprehensive release of all the tight structures, this technique for skin closure is straightforward and the donor site can usually be closed primarily.

Rehabilitation of an adult patient with arthrogryposis multiplex congenita treated with an external fixator.

Arthrogryposis is a term used to describe the presence of multiple joint contractures that are present at birth. Reports that describe the experience of a rehabilitation program for adult patients with arthrogryposis are rare. We describe the treatment of an adult patient who had not received previous surgery or rehabilitation. At home, she walked on her knees and elsewhere used a wheelchair. She was submitted to surgery and Ilizarov external fixator to correct the deformities, followed by intensive rehabilitation to permit upright standing and walking with assistive devices. After 4 mos, the patient was able to walk average distances in different types of terrain with a reciprocating walker and Canadian crutches. This report aims to emphasize the good result of interdisciplinary care of a previously untreated adult patient with arthrogryposis.

Artrogripose múltipla congênita: relato de caso / Arthrogryposis multiplex congenita: report case

A artrogripose congênita é um termo que designa um grupo de alterações congênitas, caracterizada por rigidez e contratura de múltiplas articulações. A síndome acarreta dificuldades de ordem física, psicológica e social nos portadores. O estudo descreve o caso de uma criança com este diagnóstico, atendida por diferentes especialidades que compõem a equipe de reabilitação física, adquirindo assim, melhor desempenho funcional nas atividades de vida diária e de vida prática.O objetivo do trabalho é demonstrar, mais especificamente, a contribuição da terapia ocupacional neste processo e, a utilização do Pediatric Evoluation of Disability Inventory como recurso para avaliação dos desempenhos funcionais

The utility of knee releases in arthrogryposis.

BACKGROUND: Knee contractures are difficult deformities to manage in arthrogryposis. There is little information regarding the long-term functional outcomes. METHODS: Patients with a diagnosis of arthrogryposis who had knee releases performed at a single institution with at least 2 years of follow-up were identified retrospectively. Patients were called back prospectively for a clinical examination and administration of the Pediatric Outcomes Data Collection Instrument (PODCI), Pediatric Evaluation of Disability Inventory (PEDI), and the WeeFIM instruments. Functional mobility was quantified using the Functional Mobility Scale (FMS). RESULTS: Thirty-two patients were identified with a total of 50 knees. There were 45 flexion contractures and 5 extension contractures. Average length of follow-up was 11.9 years (range, 2.2-23.6 years). Amount of extension on final follow-up correlated with all final FMS scores (P < 0.02). The FMS demonstrated decreases in mobility as distance increased. Twenty-two of 32 patients completed functional outcomes measures. Pediatric Evaluation of Disability Inventory Mobility scores, Functional Independence Measure for Children (WeeFIM) Mobility, and WeeFIM Self-Care scores were decreased compared with norms, and Normative PODCI scores at final follow-up showed significant impairment in Upper Extremity Function, Transfers/Mobility, Sports/Physical Function, and Global Function Domains. When patients were subdivided by length of follow-up, patients showed decline in scores for all FMS distances; PEDI Mobility Domains; WeeFIM Self-Care and Mobility Domains; and Transfer/Mobility, Sports/Physical Function, and Global Function Domains, as length of follow-up increased. CONCLUSIONS: Whereas knee releases may improve function in the short term, function and outcomes decline as patients age. Patients with arthrogryposis demonstrated significant impairment in normative scores for Upper Extremity/Physical Function, Transfers/Mobility, Sports/Physical Function, and Global Function Domains. In addition, function as measured by the PODCI, WeeFIM, and PEDI showed decreased scores as length of follow-up increased. We strongly advise that when counseling parents on this surgical intervention, parents are made aware that ambulatory ability may improve short term but may decline as patients age and contractures recur. LEVEL OF EVIDENCE: Therapeutic Level 4.

Transfer of pectoralis major in arthrogryposis to restore elbow flexion: deteriorating results in the long term.

We present the long-term results of pectoralis major transfer to restore elbow flexion in seven patients (ten procedures). The early results in all the patients were encouraging but with longer follow-up a gradual and progressive flexion deformity was observed with a decrease in the arc of flexion in eight elbows, reaching > or = 90 degrees in all cases. The results of pectoralis major transfer deteriorate with time due to the development of a recalcitrant flexion deformity of the elbow. With bilateral involvement we now recommend that the procedure be undertaken on one side only to allow the hand to reach the mouth for feeding, while the opposite side remains in extension for perineal toilet.

Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita).

We describe the management of significant knee deformity in 44 knees of 22 patients suffering from classical arthrogryposis multiplex congenita (amyoplasia congenita). Follow-up ranged from a minimum of 18 months to 19 years 3 months, with an average 7 years 8 months. Thirteen patients showed fixed flexion of the knees at birth and 9 showed fixed extension. All were treated initially by physiotherapy and splintage, which was successful in all except 1 patient in the extended-knee group, whereas only 7 to 26 knees responded to physiotherapy and splintage alone in the flexed-knee group. Walking ability in the extended-knee group was high; 8 of 9 were community walkers with or without walking aids and orthoses and only one was a therapeutic walker. By contrast, in the flexed-knee group, despite posterior release surgery, which sometimes had to be repeated, only to 6 of 13 patients were community walkers at follow-up, 2 were household walkers, 3 were therapeutic walkers, and 2 had stopped walking in adolescence and preferred to use a wheelchair full time. Long-term splintage is recommended but does not always prevent recurrence of deformity. Bony surgery was used only toward the end of growth or in one case when very severe deformity necessitated its use at an early age and it subsequently had to be repeated. Despite their severe handicap and multiple deformities, this group of children show a remarkable determination to walk with or without walking aids and orthoses.

Helping to solve problems associated with spina bifida: 1. Presentation of the TRS Project: organizing services for low frequency diagnostic groups and 2. Cognitive deficits often seen in young adults with spina bifida: effects in the school and work place.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

[The hip joint in arthrogryposis]. / Das arthrogrypotische Hüftgelenk.

In a retrospective review of 70 hips in 35 patients with arthrogryposis 56 of all hips studied were affected by the disorder. Clinically 4 types of arthrogrypotic hip deformity could be distinguished. In 19 hip joints not only a deformity and a restriction of movement but also a dislocation was found. Based on the results of this study a one-stage open reduction combined with a varus shortening, femoral derotation osteotomy for unilateral hip dislocations is recommended. In cases of bilateral dislocations the above mentioned surgical procedure is indicated only if there is a less severe generalized involvement of AMC. For correction of hip deformities type II during neonatal period conservative treatment by traction or by plaster cast redression has proved be successful. The authors experience is compared with reports of other authors and guidelines for clinical classification and treatment are presented.

Arthrogryposis multiplex congenita. A long-term follow-up study.

Most patients with arthrogryposis function well in adult life; however, many remain partially dependent upon others (parents, relatives, government subsidy). This dependency was more closely related to personality, education, and overall coping skills than to degree of physical deformity. Properly sequenced corrective surgical procedures are required to maximize musculoskeletal function. In addition to appropriate surgical correction, good family support, a proper educational environment, and promotion of independence at an early age are required to achieve maximal adult function.

Management of upper limb problems in arthrogryposis.

The management of upper limb problems in arthrogryposis multiplex congenita (AMC) is described on the basis of the author's own experience gained from the care of a large number of affected children. Emphasis is placed on evaluation of the disability by repeated testing and observation. In many cases, the deformities will be accepted and improvements in function will be gained by orthoses or attention to details of seating, dressing, and toileting. Surgery is indicated in some cases, especially at the elbow, to obtain mobility, flexor power, or both. Arthrodesing the wrist is also useful in some cases. When surgery is indicated, it is often desirable to rearrange all three levels--shoulder, elbow, and wrist.

Arthrogryposis of the upper extremity.

Patients with arthrogryposis multiplex congenita of the upper extremities can be helped a great deal by comparatively minor procedures. At the outset it is important to decide which patients can be helped and which patients cannot owing to the severity of disease or the social situation. It is also important, of course, to decide which patients do not require surgical or other methods of treatment. Once these decisions are made, one can safely begin in most patients with nonoperative measures, which consist of serial corrective cast applications starting at birth with changes every two to five days initially and then less often as the deformity is corrected. In patients who do not respond to this treatment, surgical intervention is necessary. We feel that surgery will be necessary in a great many of these patients. Surgery most often consists of soft tissue releases about the elbow, principally posterior capsulotomy, and triceps lengthening with or without tendon transfers to gain active motion. In the shoulder, surgery is rarely indicated, and when it is, this will be an osteotomy. In the wrist and hand, bone operations are almost always indicated because soft tissue procedures usually fail. These patients have two advantages in spite of their severe problems: They have normal sensation and they are usually of average or above average intelligence. Any improvement in the position of their extremities and any decrease in deformity will improve their functioning significantly.

Arthrogryposis multiplex congenita of the lower extremity: report of two siblings.

The purpose of treatment of arthrogryposis of the lower extremities is to achieve a stable functional weight bearing position of the affected joints. One cannot expect to achieve normal mobility and gait unless the process is mild. Achieving a functional weight bearing position of a joint may be extremely difficult, requiring repeated surgical procedures. Maintenance of correction, although often imperfect, is vital during the growing period.