BRIDGE Study Enrolling Boys, 2-6, With Talking Difficulties

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by Steve Bryson, PhD |

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Boys, ages 2 to 6, with fragile X syndrome who have trouble talking can join the BRIDGE study to help researchers learn how brain development affects language growth.

The study is being led by Carol Wilkinson, MD, PhD, at the Boston Children’s Hospital Labs of Cognitive Neuroscience in Massachusetts, the National Fragile X Foundation reported on its webpage.

Eligible boys must have a fragile X diagnosis based on a full mutation of the FMR1 gene, which carries instructions for the FMRP protein — an essential regulator of other proteins involved in nerve cell communication.

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Participants must make two lab visits, each one year apart. A $50 compensation and a small toy will be given at each visit. Caregivers will also receive detailed written reports about the child’s development, including cognitive, language, and communication skills. Child care for siblings and parking will be provided free of charge, and eligible families can receive a travel reimbursement of up to $350.

Data collected is expected to help all children with fragile X, as well as those with Down’s syndrome and autism spectrum disorder. For those interested in participating, click here.

Most healthy people have between about 10 to 40 repeat sections of CGG in their FMR1 gene (C stands for cytosine and G for guanine, two building blocks of DNA).

But people with fragile X who carry a full mutation have more than 200 CGG repeats. As a result, the FMR1 gene is turned off and makes very little or no FMRP protein, disrupting normal nerve cell function and leading to cognitive impairment, learning disabilities, and hyperactivity. Fragile X is the most common inherited form of intellectual disability.

The goal of the BRIDGE study (BRain Indicators of Developmental Growth) is to understand how the electrical activity in the brains of fragile X boys — as measured by non-invasive electroencephalography (EEG) — relates to language, learning, and behavior.

At each visit, participants will undergo an EEG, as well as clinical and behavioral assessments to evaluate thinking, language abilities, social communication, and motor skills. Questionnaires will also be completed.

While the risks are minimal, study organizers note that children may become bored or frustrated with some behavioral assessments. Others may experience discomfort during the EEG net placement or recording, which is designed to fit over the scalp like a cap. Likewise, they note that participant confidentiality may be compromised through the creation of video recordings of behavioral and EEG assessments.

The Wilkinson lab is also running the Fragile X Neural Markers Study in children ages 2 to 7 to identify clinical biomarkers for the genetic disorder.