Hope for autism treatments

Two reports in Science over the past week point the way to potential treatments for some forms of autism. One study on mice has shown that therapies for an autism-related condition known as fragile X syndrome could be used in other cases of autism. It was found that both conditions affect synapses by the same mechanism. Several drug treatments for fragile X syndrome, such as arbaclofen, are currently in clinical trials and could be used by a wider range of people with autism.

A second report has shown that a rare form of autism could be caused by an amino acid imbalance in the brain. Researchers found a link to a mutation in the gene coding for the enzyme BCKD-kinase, which is responsible for preventing the breakdown of leucine, isoleucine and valine. Humans cannot synthesise these branched chain amino acids and are totally dependent on their diet for them. The mutation inactivates BCKD-kinase, meaning that levels of these essential amino acids were very low, even after a meal. Taking body-building supplements, which are rich in these amino acids, restored levels to normal in the patients and cleared symptoms in mouse models.