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