Early Brain Imaging in Down Syndrome (eBiDS)
Research type
Research Study
Full title
Early Brain Imaging in Down Syndrome (eBiDS)
IRAS ID
256545
Contact name
Mary Rutherford
Contact email
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
0 years, 10 months, 31 days
Research summary
The Early Brain Imaging in Down Syndrome (eBiDS) Project aims to map and further investigate the developing brain in Trisomy 21. Down Syndrome (DS) is the most common genetic developmental disorder with varying degrees of intellectual disability and delays in speech, memory, and learning. Annually DS affects 1 in 1000 - 1100 live births worldwide. DS is a complex condition caused by triplication of human chromosome 21 (HSA21; Trisomy 21), and results in varied lifelong health problems. Multi-system involvement is prevalent with frequent comorbidities including congenital heart defects (40 – 50%), hypothyroidism, hearing, vision and gut complications. Young children with DS have a higher incidence of epilepsy (1-13%) and autism spectrum disorders (<16%). In early adulthood, cognitive decline is common with a high risk of early-onset dementia and Alzheimer’s disease. Whilst abnormalities in brain development are observed in early life, predominantly ex-vivo, we still lack a detailed description regarding the neurobiology that underlie these variable phenotypes.
This project will use state-of-the-art human in-vivo fetal and neonatal MRI to closely assess and quantify early brain development. DS associated difficulties are complex and life-long. In addition to giving us detailed information about how the condition affects brain growth, we hope this research will also provide us with individualised information for a baby with DS. This will help doctors explain to families what kind of difficulties their baby could expect to have and will then help to guide and monitor future therapies designed to improve outcomes.The study will take place at St. Thomas' hospital. Mothers will be invited to attend MRI scanning on a maximum of 3 occasions - a fetal scan, a neonatal scan, and a follow-up scan when their infant is 6-months old. Saliva samples will be taken at neonatal scan and at 6-month follow-up scan for future ethically approved genetic analysis.
REC name
London - Brent Research Ethics Committee
REC reference
19/LO/0667
Date of REC Opinion
7 May 2019
REC opinion
Further Information Favourable Opinion