At first, all appears normal with the infant’s development. But one day, around her first birthday, she stops making eye contact, her babbling comes to an end, she wrings her hands, and holds her breath. The child will likely survive into adulthood, but with Rett syndrome, she will lead a life with severe disabilities.
The symptoms of this autism-related disorder are complex, and treatments are not available. At the Case Western Reserve University School of Medicine, in Cleveland, Dr. David Katz and his team of neuroscientists are researching the rare genetic disorder, which affects one in 10,000 mostly female children. Their recent study, published in the Journal of Neuroscience, describes a map of brain dysfunction in a mouse model of Rett syndrome, as well as a promising treatment with the drug ketamine.