We found two issues potentially hindering the convergence of an autism diagnosis with a known genetic cause. One is lack solidarity on whether or not to recommend genetic testing, and the second is whether or not the test will include the FMR1 gene (or any specific gene for that matter).
Early Check is a new research study, led by RTI International and a group of distinguished partners, is now available for newborn babies in North Carolina. Fragile X syndrome is included in the screening. From »
Among families and professionals, in schools and therapeutic settings, there is already a great deal of confusion about the relationship between genetic test results and developmental diagnoses. We challenge the the notion that autism itself can be directly diagnosed through a blood test.
Fragile X DNA analysis is one of the most commonly ordered medical genetic tests. It is recommended as a standard part of the genetic work-up of children with developmental delay, autism or intellectual disability. Adult neurologists and reproductive specialists increasingly recommend Fragile X testing, as awareness has grown about Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). Fragile X carrier testing during pregnancy has also become relatively commonplace in the US and elsewhere, even for women without a family history suspicious for Fragile X disorders.
This “gray zone” range was defined in part due to its likelihood of expanding into the full mutation in the next generation. Most people possess an allele that typically contains ~30 CGG repeats.
A recent study by Brenda Finucane of the Geisinger Health System and her colleagues reveals that many educators and therapists still know little about Fragile X syndrome (FXS). Brenda Finucane is an NFXF Scientific & »
Why is there so much variability among male and female Fragile X carriers? There are a number of factors involved. Because the Fragile X gene is X-linked, gender plays a big role in determining who might show symptoms. Male premutation carriers, because they have only one X chromosome, are much more commonly affected by FXTAS than are female carriers.