Autism and Epilepsy

Synapse: #2 = synaptic vesicle

Thirty percent of children diagnosed with autism also suffer from epilepsy, a conundrum that has led neuroscientists to search for shared underlying mechanisms or causal connections. One intriguing but controversial theory, posed by clinical neuroscientist Aditi Shankardas is that many children diagnosed with autism are actually suffering from persistent sub-clinical epileptic seizures that can be unveiled with electroencephalography (eeg) and treated with anti-convulsants. Watch Shankardas's TED lecture and expect to see more on her here soon, when I have tracked down her bonafides.

Better-documented progress deciphering the epilepsy-autism connection was published online in Human Molecular Genetics this week. A team led by Patrick Cossette, a neurologist at the Université de Montréal, has pinpointed a mutation of the synapsin gene--SYN1--that can lead to both epilepsy and autism by deregulating the function of synapses. The synapsin gene plays a key role in forming the membrane that surrounds neurotransmitters before they make their way to a neuron's synapse, where they influence neighboring neurons. These membranes, also known as synaptic vesicles, regulate how and when neurotransmitters are released. The team discovered the gene while studying one large French-Canadian family all of whom have epilepsy and many of whom also suffer from autism.

For more on epilepsy's comorbidities, including autism, see my article "Epilepsy as a Spectrum Disorder" in EpilepsyUSA.