Discovering the reach of a gene mutation.
Fragile X syndrome [FXS] is a genetic condition caused by a full mutation of the FMR1 gene, and is the most common known genetic cause of autism. About one-third of individuals with fragile X exhibit behaviors consistent with an autism diagnosis.
The FMR1 mutation was discovered less than 30 years ago, so there’s still much to be learned about the specific characteristics of people with fragile X and their family members. At the Neurodevelopmental Disabilities Laboratory at Northwestern University, we’re studying language and social characteristics related to the FMR1 gene through families – individuals affected by fragile X, as well as their relatives who may be carriers of the FMR1 premutation.
We’re investigating how the FMR1 gene relates to language and social features throughout development, and how involved it is in the symptoms associated with autism. We’re currently recruiting individuals with FXS and their parents, grandparents, and siblings – as well as individuals without fragile X and their families – to participate in the studies being performed at this time.
Our research involves working with individuals who carry the FMR1 premutation and those affected by fragile X syndrome and their family members, using leading-edge technologies to study language and cognitive processes.
This study builds upon three extremely rich datasets from people with the FMR1 premutation and their children with fragile X syndrome, and from families with autistic members. We are investigating key molecular-genetic, neural, and language markers in individuals with the premutation and FXS, in order to determine whether there are particular speech or neural signatures connected to the FMR1 gene that are also associated with the risk of autism spectrum disorder.
This research is an important step toward understanding gene/brain-behavior connections, so that better targeted treatment can be created.
We’re currently recruiting individuals who carry the FMR1 premutation, as well as individuals with fragile X syndrome who have previously participated in our research studies.
Participation involves completing different language tasks, solving puzzles, and completing noninvasive measures of brain activity.
Participation can be completed in one or two sessions, ranging from 4-6 hours with frequent breaks.
Our lab is based in Evanston, IL. We conduct research in our lab space, and we also work with participants remotely via online platforms such as Zoom. We work with participants every day of the week at times convenient to them either in person or through remote participation.
Yes! All participants are compensated for their time, as well as for travel and parking.