Introduction to autism research Ilan Dinstein

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Presentation transcript:

Introduction to autism research Ilan Dinstein

What is the cause of autism?

Dendrites Cell body Axon חומר אפור ולבן, תאים וקישורים בין תאים - מיילין. Axon

Neural activity

Modularity

Developmental disorder Brain development movie

Nature versus nurture Genes or Environment?

Genetics Control > ASD

DNA sequencing Control > ASD

Identify meaningful mutation Substitution Control > ASD Deletion Insertion

Determine the function of the gene What is the function of the protein that the gene encodes? Is it involved in neural transmission? Neural development? Synaptic development? Bourgeron 2009

Create a genetically modified animal model Compare animals with extremely similar genetics except for a specific modification. Control > ASD

Perform behavioral experiments Control > ASD Testing social behavior in mice

In vitro electrophysiology Control > ASD

In vivo electrophysiology Control > ASD

Electrical properties of cells & networks Control > ASD

Electrode location Control > ASD

Cellular morphology and connectivity Control > ASD

What about humans? Human genetics – SFARI, Autism Speaks Neuroimaging – MRI, fMRI, DTI Electrophysiology – EEG Post mortem

Human genetics

Magnetic resonance imaging (MRI)

Anatomy - Separating tissues

Anatomy – Cortical thickness

Anatomy – Cortical folding

Anatomy – white matter Tractography Fiber volume Fiber length

Electroencephalogram - EEG Control > ASD

Signal = Potential Difference

Source of EEG signals What causes potential changes between the electrodes? Synchronized cortical neural activity over large areas (>1cm) – Sources and Sinks. Muscle contractions anywhere in the head. Heart beat (ECG). Electromagnetic noise – AC, Cell phones, etc…

Source of EEG signals The larger the synchronicity, the stronger the signal (potential difference). Topography of the brain – Sulci and Gyri. Changing conductance in the brain – CSF, dura, skull (strong resistor). Inverse problem – almost infinite combinations of dipoles can create the same potentials on the scalp.

Event Related Potentials

Event Related Potentials

EEG Frequencies

EEG and epilepsy Control > ASD Epileptiform activity Epileptic seizure Spence, Pediatrics Res 2009

Post mortem studies Brain slices: Control > ASD

Post mortem studies Cellular morphology Control > ASD

Post mortem studies Neural numbers and organization Control > ASD