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).
This discussion provides clinical perspectives on the behavioral differences between FXS and what are thought to be core features of autism. There is still much to be learned about identifying behaviors that suggest the presence or absence of ASD in FXS.
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.
Autism Spectrum Disorder in Fragile X Syndrome: Co-Occurring Conditions and Current Treatment — Webinar
Individuals with a dual diagnosis of Fragile X syndrome and autism have reported greater cognitive and behavioral impairment. With Dr. Walter E. Kaufmann.
It is important to note that it is more common for a child to be diagnosed with ASD and then to receive an additional diagnosis of FXS.