Boys ages 2 to 6 with fragile X syndrome who have difficulty speaking can participate in the BRIDGE study to help researchers understand how brain development affects language growth.
The study is led by Carol Wilkinson, MD, PhD, of Boston Children’s Hospital Labs of Cognitive Neuroscience in Massachusetts, Fragile X National Foundation reported on its webpage.
Eligible boys must have a diagnosis of Fragile X based on a full mutation of the RMF1 gene, which carries instructions for the FMRP protein – an essential regulator of other proteins involved in nerve cell communication.
Participants must complete two lab visits, each one year apart. Compensation of $50 and a small toy will be given at each visit. Caregivers will also receive detailed written reports on the child’s development, including cognitive, language and communication skills. Childcare for siblings and parking will be provided free of charge, and eligible families can receive travel reimbursement of up to $350.
The data collected should help all children with fragile X, as well as those with Down syndrome and autism spectrum disorders. For those interested in participating, click here.
Most healthy people have between about 10 and 40 repeat sections of CGG in their RMF1 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. Consequently, the RMF1 is disabled and produces very little or no FMRP protein, which disrupts the normal functioning of nerve cells and leads to cognitive impairment, learning disabilities and hyperactivity. Fragile X is the most common inherited form of intellectual disability.
The goal of the BRIDGE (Brain Indicators of Developmental Growth) study is to understand how electrical activity in the brains of Fragile X boys – as measured by noninvasive electroencephalography (EEG) – relates to language, learning and behavior.
At each visit, participants will undergo an EEG, as well as clinical and behavioral assessments to assess thinking, language abilities, social communication, and motor skills. Questionnaires will also be completed.
Although the risks are minimal, the study organizers note that children may become bored or frustrated with certain behavioral assessments. Others may experience discomfort when placing or recording the EEG mesh, which is designed to fit over the scalp like a cap. Likewise, they note that participant privacy can be compromised by the creation of video recordings of behavioral and EEG assessments.
The Wilkinson lab is also conducting the Fragile X neural marker study in children ages 2 to 7 to identify clinical biomarkers of the genetic disease.
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