Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.
Spectrum: Autism Research News
Tag: fragile X syndrome
Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.
As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.
Investigational drugs that inhibit an overactive enzyme could partially normalize how brain cells mature in boys with fragile X syndrome.
Elizabeth Berry-Kravis has spent decades uncovering molecular clues to fragile X syndrome and crafting trials of treatments. Her efforts are paying off.
A drug that prevents an enzyme from breaking down a key molecule involved in learning and memory improved cognition and behavior in a small study of men with fragile X syndrome.
When autism researcher Clare Harrop tried to recruit survey participants over social media, she received hundreds of fraudulent responses. But there are ways researchers can protect themselves from similar experiences.
People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.