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Fragile X syndrome is thought to have a significant overlap with autism

A genetic defect that causes children to dislike being hugged and sometimes reject all physical affection is closer to being understood following research into the sensory part of the brain.

Scientists at Northwestern University, Illinois, and the University of Edinburgh explored fragile X syndrome — a genetic condition associated with an extreme hypersensitivity to sounds, touch, smells and visual stimuli that can result in social withdrawal, hyperarousal or anxiety. Some sufferers are even hypersensitive to material on their skin.

The scientists found that critical phases in the brain’s development may be mistimed in people with the condition. This may result in inappropriate communication between brain cells.

By recording electrical signals in the brains of mice, bred to mimic the condition, the researchers found that connections in the brain’s sensory cortex were late to mature. The study, published in the journal Neuron, found that these changes in the brain’s connections occurred much earlier than previously thought — in the first week post-natal in mice, which is equivalent to the middle of the second trimester of pregnancy.
The mistiming, in which the neurons do not communicate properly, may cause further problems with the correct wiring of the brain. The hope is that by understanding how and when the function of the brain is affected in fragile X, a therapy may become possible. … Continue Reading