ARTHROGRYPOSIS
MULTIPLEX CONGENITA
A Pilot Registry
Funded by a Shriners Developmental Grant #79150 (2017-2018)
Why Create a Registry? Arthrogryposis Multiplex Congenita (AMC) is rare (1 in 3000) which makes research challenging. A registry collects a lot of data in one place, allowing researchers to better study AMC, its causes, detection, and treatment.
PILOT REGISTRY PROJECT
METHODS
RECRUITMENT
Families with a child with AMC at the Shriners Hospitals for Children in Montreal and Philadelphia were recruited to participate.
DATA COLLECTION
Phone interviews and medical chart reviews were conducted. Family demographics, newborn information, parental lifestyle, and medical history were collected.
ANALYSIS
Data were analyzed to identify areas for improvement in a larger registry project.
STATISTICS
DESCRIPTION OF PARTICIPANTS
40 YOUTH WITH AMC AGED 1 – 19 YEARS
PREGNANCY AND CHILDBIRTH
PRENATAL, PERINATAL & POSTNATAL CARE
C-SECTION BIRTHS
64%
While 36% of mothers gave birth vaginally, the majority of mothers gave birth via c-sections.
AVERAGE DAYS IN HOSPITAL
14
Reasons for stay: diagnosis, feeding and breathing difficulties, jaundice, fractures, and early interventions.
AMC DETECTED IN UTERO
53%
While 78% had atypical ultrasounds, only 53% of mothers reported AMC being detected in utero.
MUSCULOSKELETAL INVOLVEMENT
AS PER TELEPHONE INTERVIEWS
17%
Had a smaller lower jaw (micrognathia)
42%
Had involvement of the spine
89%
Had involvement of the upper extremity
86%
Had involvement of the feet
INVOLVEMENT IN OTHER SYSTEMS
AS PER TELEPHONE INTERVIEWS
28%
Had involvement of the nervous system
20%
Had cardiac involvement
14%
Had respiratory involvement
20%
Had gastrointestinal involvement
18%
Had webbing of the skin
20%
Had genitourinary involvement
NEXT STEPS
PLANS FOR A LARGER REGISTRY
CHANGES TO BE MADE
Translate questionnaires into Spanish and French and track developmental milestones, pain, and independence in daily activities.
FULL-SCALE REGISTRY
In 2019, there will be a pediatric AMC registry started at four Shriners Hospitals for Children sites: Montréal, Philadelphia, Sacramento, and Portland.
AREAS TO EXPLORE
Early detection, timing and effectiveness of interventions, and genetic causes of AMC will be explored.
REFERENCES
1. Dahan-Oliel N, Bedard T, Darsaklis VB, Hall JG, van Bosse HJP, Hamdy RC. Development of a research platform for children with arthrogryposis multiplex congenita: Study protocol for a pilot registry. BMJ Open. 2018 Jun 30;8(6):e021377.
2. Dahan-Oliel N, van Bosse HJP, Bedard T, Darsaklis VB, Hall JG, Hamdy RC. Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry. Am J Med Genet C Semin Med Genet. 2019