Delayed diagnosis for fragile X children

DURHAM, N.C., July 10 (UPI) -- Children often reach the age of 3 before being diagnosed with fragile X syndrome, an inherited form of intellectual disability, U.S. scientists said.

No significant changes in the age of diagnosis have occurred in the last seven years, despite increased patient advocacy, prompt referrals for genetic testing and increased exposure to information about fragile X, or Martin-Bell syndrome, scientists at several North Carolina universities said in a study published in the journal Pediatrics.

The development of less costly and more accurate screening tests would encourage routine genetic screening for fragile X, said Don Bailey, the lead researcher in a study conducted by scientists at North Carolina's Research Triangle Institute.

Fragile X is not obvious at birth and delayed diagnosis prevents access to services and increases the risk of the birth of a second child with fragile X, Bailey said.

The study of more than 200 families of children with fragile X was funded by the Centers for Disease Control & Prevention.