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).
A conversation with David L. Nelson, Ph.D., a Professor at Baylor College of Medicine and a member of the NFXF Scientific Advisory Council. He is a co-discoverer of the FMR1 gene and the repeat expansion mutation that causes fragile X syndrome. He is answering questions about a recent study published in the journal Molecular Psychiatry and an accompanying press release about the paper from Northwestern University’s Feinberg School of Medicine. The headline of the press release claims, "New Fragile X Genes Discovered."
Halloween can offer challenges for children with Fragile X syndrome. Here we present activity ideas for you to consider, but the important point is to find what works for your family—and maybe it will lead to a new tradition.
Traveling with your child living with Fragile X syndrome on an airplane can be very stressful for the both of you. These tips are provided by parents based on their experiences with their own children. [...]
A grandmother of a newly diagnosed grandson once called me to talk about the diagnosis. “Where is the hope?” she asked. I did not say anything to see if she would go on. “I mean, [...]
This is one more story about children who do not want to go poo…in the toilet. (Sorry, I debated about which term to use): No. 2, BM, etc., but decided this one was the most [...]