Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry

Abstract

A pediatric registry for arthrogryposis multiplex congenita (AMC) proposes to advance research by providing the platform to inform the distribution, etiology, and natural history of AMC. The registry was piloted on 40 families of children (mean = 8.25 years, 48% males) presenting with AMC across two hospitals in North America. Data on the child's demographic and newborn variables, mothers' and fathers' demographic variables, lifestyle habits, and medical history were collected using a telephone interview with the primary caregiver and review of medical charts.Mean gestational age was 38 weeks, 97% of children presented with lower extremity deformities, and 74% of neonatal interventions targeted the lower extremity. Newborns spent an average of 14 days in the hospital (range 2-56 days) mostly for diagnostic workup and feeding difficulties. Half (49%) of the sample had internal organ involvement. Genetic testing was done on 48% of the children, including chromosome studies, single gene, whole-exome/genome sequencing, and/or microarray studies. Genetic findings were inconclusive in most. Two-thirds of mothers (67%) reported inconsistently feeling fetal movements. This pilot study contributed to the refinement of participant selection, identification of data source, expansion of data sets, and areas for future exploration prior to the implementation of a multisite AMC pediatric registry.

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

“…The knowledge on the various aspects of motility explains that stable contractures and motility observed 2 weeks after initial contractures can be considered as reassuring [22, 23]. Moreover, it elucidates why mothers of foetuses with AMC reported no movements in only 3/36 and abnormal movements in 11/36 since systematic motor assessment showed abnormal movement quantity in half of the FADS and none of the AMC (small) population [17, 22].…”

“…Finally, prenatal diagnostics might be recommended for future pregnancies. A pilot registry for children with AMC by Dahan-Oliel et al [17] showed that genetic testing was not performed consistently and when performed often inconclusive. They emphasized the importance of performing genetic tests prenatally [17].…”

“…In a population (University Children’s Hospital, Basal, Switzerland, and BC Children’s and Women’s Hospital, Vancouver, Canada) of 107 neonatally confirmed arthrogryposis cases published in 2013, 73.8% was not detected during prenatal ultrasound examination [15]. In another population (Shriner Hospitals for Children Montreal, Canada, and Philadelphia, US) of older infants with AMC (mean age 8.25 years, range 1.59–19.23) published in 2019, 85% had clubfeet or clenched hands during the second trimester of pregnancy, but in 53%, AMC was detected prenatally [17]. When applying foetal imaging in a centre of expertise over a period of two decades, sensitivity for detecting arthrogryposis increases from 66.7% (from 1990 to 1999) to 85.7% (2000–2009) [18].…”

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

“…Arthrogryposis multiplex congenita (AMC) is a condition occurring in about 1 in 5,000–10,000 live births characterized by non-progressive joint contractures in 2 or more body regions [ 1 – 3 ]. Clinical presentations are variable, resulting in considerable heterogeneity of individuals with AMC in terms of mobility status, cognitive status, and limitations with activities-of-daily living [ 1 , 4 , 5 ].…”

Collaborating to advance interdisciplinary care for individuals with arthrogryposis

“…A standardized autopsy protocol is proposed by Oberg, Magaki, and Hall () to allow for a methodical approach for examination that will facilitate subsequent study by investigators across disciplines. The third theme, clinical research, summarizes research findings from collaborative efforts through pediatric (Dahan‐Oliel, van Bosse, et al, ) and adult registries (Sawatzky et al, ), as well as from other empirical studies and syntheses of the literature.…”