At first glance, there is no reason why children with fragile X syndrome,
the most common inherited form of intellectual disability, shouldn't be
diagnosed early in life.
The gene that is responsible for the syndrome has been identified
(Psychiatric News, January 4, 2002). There is a genetic test for the
syndrome (Psychiatric News, January 4, 2008). The American Academy of
Pediatrics and the National Fragile X Foundation, among others, have been
pushing to get children with the syndrome diagnosed early. Furthermore, the
parents of fragile X children seem to be aware of their offspring's
developmental delays earlier than they used to.
However, the average age of diagnosis today is about 3 years—the same
as a few years ago, a new study has found. It was headed by Donald Bailey Jr.,
Ph.D., a distinguished fellow at the Research Triangle Institute (RTI)
International, and reported in the August
So, what's going on? Bailey and his colleagues suggested in their paper,"
Research shows that pediatricians are aware of fragile X syndrome and
support diagnostic testing for children at high risk, but would refer to a
specialist instead of ordering a diagnostic test even if they suspected
fragile X syndrome. The lag is probably due in part to delayed referral to
specialists and in part to the time lag between referral and actual
However, not all the tardiness can be blamed on these two factors. This new
study, whose subjects all had fragile X syndrome, found that the fragile X
diagnostic test ordered for them was requested by pediatricians or family
doctors 23 percent of the time. (The test was initiated in other instances by
neurologists, geneticists, psychologists, speech-language therapists, or the
But why all the fuss about getting fragile X children diagnosed early? All
that they need to be eligible for early-intervention programs is a diagnosis
of a developmental delay, not a formal diagnosis of fragile X. There are
several reasons, Bailey explained to Psychiatric News. It helps the
parents of a fragile X child understand why he or she has developmental and
behavioral problems. It also lets them know that if they have more children,
those children may have fragile X as well. Indeed, a fourth of the parents who
participated in this study already had a second child with the syndrome before
they knew that their first child had it, Bailey said.
Even though nonpsychiatrist specialists are usually the ones who order
fragile X diagnostic tests for developmentally delayed children, psychiatrists
still have a role to play in the treatment of fragile X children. Bailey said,"
Children with fragile X are often put on multiple medications to
control behavior problems, attention problems, hyperactivity, aggression,
seizures, anxiety, or other complications." Psychiatrists may also have
a role to play in the diagnosis and treatment of depression in the mothers of
fragile X children, Bailey noted, since the mothers of children with
disabilities often suffer from depression, he and his colleagues found in
The study was funded by the Centers for Disease Control and Prevention and
the Association for Prevention Teaching and Research.
An abstract of "No Change in the Age of Diagnosis for Fragile
X Syndrome: Findings From a National Parent Survey" is posted at<http://pediatrics.aappublications.org>
under the August issue. ▪