An Experimental Drug's Bitter End

Holly Usrey-Roos will never forget when her son, Parker, then 10, accidentally broke a drinking glass and said, “I’m sorry, Mom. I love you.”

Holly Usrey-Roos, right, with
Parker, 14, and Allison, 10
. Both have fragile X syndrome.

It was the first time she had ever heard her son say he loved her — or say much of anything for that matter. Parker, now 14, has fragile X syndrome, which causes intellectual disability and autistic behavior.Ms. Usrey-Roos is certain that Parker’s new verbal ability resulted from an experimental drug he was taking in a clinical trial, and has continued to take for three years since then. She said she no longer had to wear sweaters to cover up the bruises on her arms she used to get from Parker hitting or biting her.

Now, however, the drug is being taken away

.

Fragile X Protein Linked to Autism Genes

DURHAM, N.C. – Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses are related.
Now a collaborative research effort at Duke University Medical Center and Rockefeller University has pinpointed the precise genetic footprint that links the two. The findings, published online in the journal Nature on Dec. 12, 2012, point the way toward new genetic testing that could more precisely diagnose and categorize the spectrum of autism-related disorders.

Drug May Help Social Withdrawal in Autism

An experimental drug showed promising results in treating the key symptom of social withdrawal in people with Fragile X syndrome, the most common known inherited cause of autism with intellectual disability, according to a recent clinical trial.
The drug, known as arbaclofen or STX209, is a derivative of the FDA-approved drug, baclofen, which is primarily used to treat muscle spasticity in conditions like cerebral palsy and is being studied as a treatment for alcoholism and other addictions.

Promising Autism Research: But Far From Cure

The journal,Science, has an article entitled Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism, which found a common bond between Fragile X and autism. What's more, they were able to "reverse" the autism-like symptoms, in mice. The article that drew my attention to this research was Neuronal Dysfunction Found In Autism can be Reversed, posted online at the Examiner. Imagine my surprise, and excitement, when I read that an effective cure for autism had been found! Of course, I checked my excitement and started to read the article.

Hope for Treating Intellectual Disabilities

Slouched sideways at his desk in the front row of class, a sneakered foot jittering distractedly, Chase Brown could be any 14-year-old in academic captivity.
As the discussion turns to the American history of slavery, the teacher draws Chase back from his apparent reverie. A classmate has said that Abraham Lincoln freed the slaves. Does Chase agree or disagree?
Chase locks eyes with his teacher. "I agree," he says emphatically.
It is a moment of triumph for Chase, one of an estimated 90,000 in the U.S. who live with an inherited form of intellectual disability known as fragile X syndrome. Only a year ago, he would have fled the classroom, thrown something at the teacher or stayed mute. Last year, he tested below first-grade level in all academic domains.
Impulsive, distracted and quick to boil over, he seemed incapable of learning.