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Fragile X Research

Fragile X Research2018-08-16T13:46:48-05:00

Fragile X Syndrome (FXS) is caused by a mutation of the FMR1 gene, and is the most common inherited cause of intellectual disability.  Given that this mutation was only discovered in 1991, much remains to be learned about the specific characteristics of individuals with FXS and their family members.  Also, about 33% of individuals with FXS exhibit behaviors consistent with an autism diagnosis.  Because Fragile X syndrome has a single known genetic cause, the overlap between FXS and autism presents a unique opportunity to learn more about the relationship between genes and behavior and the potential contribution of the FMR1 gene to autism. Our project studies language and social characteristics related to the FMR1 gene. This is a family study that involves individuals with FXS as well as their parents and siblings who are carriers of the FMR1 premutation.

Our Studies

We are currently recruiting participants for our studies that aim to:

  • Investigate how language and other skills developed over childhood in carriers of the FMR1 premutation
  • Identify early developmental features that may be related to the FMR1 gene and understand how they may relate to language and social features later in development

Who can participate?

We conduct family studies that include individuals with fragile X, with the FMR1 premutation, and their family members. Our studies also include typically developing individuals and their parents. Families are being recruited from the Chicago area with a particular focus on families in Iowa because of a unique resource of developmental information that is maintained by the University of Iowa and made available with permission.

What does participation include?

We will ask you to do some tasks that involve words and sentences, pictures, and sounds. Other tasks involve looking at pictures and making judgments, doing puzzles, problem solving, and tracking eye movements. We will also collect a blood sample for use in this genetic study.

It will take approximately two to four hours to do the tasks, depending on how many you may have completed previously. We will schedule frequent breaks, and can break the assessment up into more than one session, if you prefer.

How are participants compensated?

Each participant will be compensated for their time, as well as, their travel and parking.

This study is funded by the National Science Foundation and the National Institutes of Health.

Interested in participating? Tell us about you and your family.