Fragile X Syndrome Treatment And Autism-Like Symptoms

Posted on

This morning NPR ran a story regarding the effects of the Fragile X syndrome that can cause symptoms of autism and mental retardation, and a treatment that could potentially reverse those symptoms.  The story is fascinating, but is billed as a treatment for autism in general.  Let's understand the effects of the condition.  Fragile X Syndrome is a mutation on the X chromosome that effectively disrupts the system in the brain that regulates synapses, which can cause mental retardation and symptoms on the autism spectrum.  This happens because there is an increase in these synapses, but no regulation to reduce them.  Therefore synapses are running out of control.  Until recently there has been no treatment for this condition, but that has now changed as the recent study has begun human testing.  There are some risks, in that not all on the autism spectrum will respond to the treatment, and the drugs are potentially dangerous.  The tests are going forward with caution, and I hope they find an effective treatment for this syndrome.  But I also want to point out that this condition isn't the only cause for autism.  Recent studies (such as those I have previously posted) point to an overgrowth of neurons during the developmental ages, with a decreased, delayed, or lack of pruning at age 6 as a primary cause of autism.  The effects are the same, because you have either a system that doesn't slow down synapses, or increased synapses caused by an overgrowth of neurons.  Both have increased synapse activity, and therefore cause the same symptom.  So while I think the treatment is ground breaking and definitely worth praise, I want to caution parents out there that this is not the silver bullet for autism.  Autism can be caused by a number of conditions, only one of which has been found to have a treatment.  Not all children with autism will have the Fragile X Syndrome.  The really positive thing is the focus on genetic mutations that are the cause of autism, as opposed to environmental effects.  Hopefully this study will lead to more funding and focus on other genetic causes that lead to the majority of those on the autism spectrum.