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 Article of Interest - Fragile X

Discovering Fragile X Syndrome: Family experiences and perceptions

from the Frank Porter Graham Child Development Institute


Fragile X syndrome (FXS) is a genetic disorder and the most common known cause of mental retardation and developmental disabilities with an incidence of between 1:2,500 and 1:4,000 births. The disorder is on the X chromosome that is in both males and females, but males are typically affected more severely. The disorder can be passed for generations in a carrier status with increasing chances of the gene expanding into the full disorder.


Unlike Down syndrome, however, FXS is not detectable at birth through physical examination or behavioral observation. It is only through the gradual emergence of delays and behavioral challenges that it becomes apparent to parents and professionals that something is wrong.


We wanted to determine the experiences of families in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information.


Our researchers used surveys from 274 families who had at least 1 child with fragile X syndrome and this Snapshot summarizes key findings and conclusions:


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