Earlier Testing Needed for Fragile X Syndrome

Delay in diagnosis could be prevented with better screening, study finds

FRIDAY, July 17 (HealthDay News) -- Treatment of a rare genetic disorder that inhibits a child's learning could improve if pediatricians diagnosed the syndrome earlier, researchers say.

The disorder, known as fragile X syndrome, is the most common inherited form of intellectual disability and is not apparent at birth. It affects roughly one in 2,000 males and one in 4,000 females. Symptoms range from mild learning disabilities to autism and serious physical problems.

Most diagnoses come after the age of 3, when learning disabilities begin to surface, according to researchers at RTI International in Research Triangle Park, N.C. Their study was published online in Pediatrics.

They found that later diagnoses often delay access to appropriate services and may lead to the birth of a second child with the disorder.

"Awareness of fragile X syndrome has grown as a result of research, statements by professional organizations and advocacy," said Don Bailey, a fellow at RTI International and the study's lead author. "However, changing the age of diagnosis will be difficult without broader and more systemic changes in pediatric practice," he explained in a news release from the institute.

The researchers looked at more than 200 families of children with fragile X syndrome. They found that the average age of diagnosis was 35 to 37 months in boys and more than 41 months in girls.

Perhaps because of this delay in diagnosis, roughly a fourth of the families of boys and nearly 40 percent of the families of girls had a second child with fragile X syndrome before their first child was diagnosed.

"Routine genetic screening for fragile X syndrome, which would significantly benefit children and their families, would be accelerated by the development of a cheap and accurate screening test," Bailey stated.

More information

The National Fragile X Syndrome Foundation has more on fragile X syndrome.

SOURCE: RTI International, news release, July 9, 2009
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