Is Fragile X the Treatable Type of Autism?

In The Fragile X Factor TIME in partnership with CNN examines Fragile X in the family of Cari and Andrew Wheeler of Madera Ranchos, California including son Max, 7 , who is mildly autistic and mildly retarded. In addition to Max his mother is experiencing premature menopause and his grandfather is suffering from neurological decline. The conditions of all three are impacted by the Fragile X syndrome and the defective X chromosome gene they carry. All three are featured and their common Fragile X syndrome described.

The article also focuses on fenobam, a potential drug treatment for FXS and other types of autism. Pediatrician Randi Hagerman, medical director of the MIND Institute, and a team at Chicago's Rush University Medical Center have begun trials with fenobam. Neuroscientist Mark Bear of MIT is expected to begin trials with two other drugs in 2008. Hagerman is particularly optimistic:

"We're looking at a medication to reverse the retardation and I think we can achieve it."

Hagerman's husband Paul also studies Fragile X and urges parents with an autistic child to consider testing for Fragile X. In his opinion autism caused by Fragile X will be known as the "treatable type".

If the drugs fulfil their potential and are indeed found to be an effective treatment for Fragile X related autism some neurodiversity oriented parents may have to reconsider their "Autism is Beautiful" hostility toward autism cures. It is one thing to oppose a hypothetical treatment or cure. It would be something altogether different for parents to refuse actual proven treatments that could cure their autistic children and give them a chance at a richer life.

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Today There Is Hope For Targeted Autism Treatments

Today's exciting news of Fragile X and autism symptom reversal in mice holds out hope for specific targeted treatment for entire autism spectrum according to medical experts interviewed by TIME in A Fix for One Type of Autism :

What was especially remarkable was the number of ways the intervention reversed Fragile X symptoms. The specially bred mice had fewer seizures, more normal brain structure, a more typical rate of body growth and they performed better on a learning task than mice with uncorrected Fragile X. The experiment suggests that treating Fragile X with a drug that inhibits mGR5 receptors could have similarly healing effects.

"This gives the whole field of autism a lot of hope for targeted treatments that can be beneficial," says Dr. Randi Hagerman, medical director of the MIND Institute and director of the Fragile X Research and Treatment Center at the University of California, Davis. "It's likely that the mGR5 pathway may be involved in other kinds of autism," she says. That means that a drug that works on this pathway could have broad application in treating autism.

TIME also reports that drugs that block the mGR5 receptor already exist and researchers are wasting no time setting up human clinical trials. Most parents whose children have been diagnosed for several years are disciplined by expert advice and ... disappointment and few are unlikely to get too wound up over today's news but it seems like one of the most promising breakthroughs to date for families seeking to treat and cure their autistic children.

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