Stories about: MeCP2

Why does brain development diverge in autism?

Many autism spectrum disorders (ASDs) are marked by apparently normal development in infancy followed by a tragic loss of cognitive, social and language skills starting at 12 to 18 months of age. ASDs are increasingly seen as a disorder of synapses, the connections between neurons that together form brain circuits.

What hasn’t been clear is why children with ASDs go off the normal trajectory after meeting their early developmental milestones. But now there may be a hint of an explanation.

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Can Rett syndrome be reversed?

Khwaja evaluates a young girl with Rett syndrome, the leading known genetic cause of autism in girls.

In 2007 an extraordinary paper was published, suggesting that developmental disorders, including autism spectrum disorders, aren’t necessarily a done deal. Working with a mouse model of Rett syndrome, a disorder causing severe cognitive, motor and language problems and autistic behaviors, mostly in girls, researchers in Scotland restored the function of MeCP2, the mutated gene. The mice showed a striking reversal of their neurologic symptoms.

The paper has had an impact around the world, changing how scientists think about disorders that have been thought to be untreatable.

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