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Arthrogryposis 2017 Supplement

Background to the 2nd International Symposium on Arthrogryposis

Lester, Ruth FRCS*; Hall, Judith G. MD; Pontén, Eva MD; van Bosse, Harold J.P. MD§

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Journal of Pediatric Orthopaedics: July/August 2017 - Volume 37 - Issue - p S2-S3
doi: 10.1097/BPO.0000000000000996
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Abstract

At Birmingham Childrens Hospital UK, Ruth Lester, a pediatric plastic surgeon with an interest in children’s hand and upper limb disorders, and Chris Bradish, an orthopaedic surgeon, developed a regularly scheduled clinic to care and treat their mutual patients with arthrogryposis multiplex congenita (AMC). The challenges of managing these young patients required a team of several different specialties, transitioning gradually to a multispecialty clinic. They invited the premier arthrogryposis support group in the United Kingdom, The Arthrogryposis Group (TAG), to join the clinic so as to meet and provide support to the patients and their families. In time, the surgeons realized the need for an international forum to share experiences and exchange ideas. With support from TAG the 1st International Symposium on Arthrogryposis took place in Birmingham in September 2007. There, extremity surgeons, pediatric neuromuscular specialists, therapists, and geneticists conferenced for 2 days. The lessons learnt and the new questions raised are summarized below. These served as the foundation upon which Dr Olga Agranovich of the Turner Scientific and Research Institute for Children’s Orthopaedics organized the second international meeting in Saint Petersburg, Russia in 2014. The information from that second meeting is the substance of the following 7 articles.

DIAGNOSIS

Making a specific diagnosis from >400 conditions that can result in the birth of a child with multiple joint contractures can be challenging, frustrating, and often expensive. The consensus view, though, was that determining the specific cause of each child’s arthrogryposis should be attempted, as it affords the family information on recurrence risk, carrier detection, possible future prenatal diagnosis, and natural history. It should be emphasized that amyoplasia, the most common form of arthrogryposis, does not have a genetic underpinning but is instead a diagnosis of exclusion, so other potential diagnoses need to be first eliminated before concluding a child has amyoplasia. Individuals with arthrogryposis and intellectual disability need microarray and exome studies to try to identify possible chromosomal rearrangements, microdeletions, duplications, and mosaicism.

CLASSIFICATION

Arthrogryposis multiplex congenita represents a catalog of conditions and specific diagnoses, yet many sharing phenotypical characteristics and potential outcomes. Current classification systems served as a good foundation, but a more comprehensive organization of the conditions is needed to stratify severity, direct treatment, and allow proper assessment of short and long-term outcomes. Such a classification system or systems would need to encompass: (1) genetic types, (2) severity of involvement, (3) specific limb contractures, and (4) a standardization of function-specific outcomes. Similarly, a more representative set of International Classification of Disease (ICD) codes are needed for surveillance and monitoring of specific subtypes of conditions.

TREATMENT

The first international symposium was in part a forum to discuss developing trends in treatment of children with congenital contracture syndromes. Dramatic improvements in upper limbs functioning of individuals with amyoplasia following vigorous physical therapy and muscle transfers were reported from several centers. Exoskeleton orthotics were introduced as a concept, and are now in regular use. In the lower extremities, hemiepiphysiodesis plates allowed for growth guidance, a less traumatic and more muscle sparing form of treatment for mild to moderate knee flexion contractures compared with osteotomies. Knee extension contractures/congenital dislocations were corrected by casting at birth. Ponseti casting was recognized as the accepted treatment of clubfoot deformities; serial casting should be initiated by 1 to 2 months of age if possible, although satisfactory results were obtained for much older children. Expandable spine implants for scoliosis in growing children with arthrogryposis helped avoid the development of severe deformities.

Multiple surgeries are often needed for children with AMC, but the anesthesia may be complicated by limited jaw opening, restricted lung development, or malignant hyperthermia. Better understanding of these complications is imperative.

OUTCOMES

Evaluating the outcomes of treatments was an important topic of the first international symposium. Information presented indicated that many adults with AMC experienced painful joints with degenerative arthritis 20 to 30 years after treatment. Many required orthotics for ambulation. There were suggestions that lack of activity led to trunk weaknesses, scoliosis, and respiratory compromise, and that immobilization of adults with arthrogryposis (even for brief periods) resulted in disproportionate weakness and muscle atrophy. Becoming overweight was identified as a frequent problem for both adults and children with arthrogryposis. Little else was known about adult outcomes.

Another area identified as potentially benefiting from outcomes research was the prognostic domain. This included improved prenatal diagnosis by routinely performing real-time ultrasound at 16 weeks of pregnancy, scrutinizing for joint contractures. The muscle mass present at birth could be determine by early ultrasound or magnetic resonance imaging of the baby, and subsequently correlated with functional outcomes. This information could be used to develop future treatment strategies tailored to specific patient presentations, and potentially prognosticate expected function of a child with a specific set of findings at birth.

FUTURE DIRECTIONS

There was a general consensus that the relative rarity of even the most common types of arthrogryposis necessitated multicenter trials and collaborations. These would help to establish guidelines and algorithms related to the different therapy options for a particular condition.

Directions for possible basic science research were proposed as well. Given that the Ponseti method of serial stretching clubfoot deformities is effective, as is gradual correction of severe knee flexion contractures by joint distraction using an Ilizarov external fixator, it was suggested that cytokines or other factors are released in response to the therapy, thereby facilitating elongation of the pathologic periarticular soft tissues. Identifying and synthesizing these factors could aid in increasing joint motion. Also, advances in stem cell research may lead to therapies involving muscle and nerve cells, “regenerating” what had failed to develop initially.

Keywords:

arthrogryposis; arthrogryposis multiplex congenital; amyoplasia; congenital contracture syndromes

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