Lecture 34 — Translational Autism NEU335.pdf

Behavioral therapy one example floortime parents

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Behavioral Therapy One example: “Floortime”: Parents follow the child’s lead, & direct their children into increasingly complex interactions.
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Autism What is autism? How is it diagnosed? What is on the differential diagnosis? What causes it? What doesn’t cause it? What can we do about it? What’s on the horizon?
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Learning Objective Understand how the framework of “genes cells circuits behavior” relates to complex brain disorders like autism
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Autism Cells Circuits Behavior Genes
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Autism Cells Circuits Behavior Genes
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Genetic changes cause most cases of autism. identical twins: 70-90% Tick et al. Heritability of autism spectrum disorders: a meta-analysis of twin studies. (2016) J Child Psychol Psychiatry. general population: ~1% Iossifov et al. The contribution of de novo coding mutations to autism spectrum disorder. (2014) Nature 2,500+ families “de novo” genetic changes Unaffected Autism Unaffected Unaffected
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Genetic changes cause most cases of autism. ANK2 ARID1B BCL11A MED13L ASH1L CACNA1H MET ASXL3 CACNA2D3 MSNP1AS CHD8 CHD2 NCKAP1 CUL3 CNTN4 NLGN3 DSCAM CNTNAP2 NRXN1I BCKDK DYRK1A CTNND2 PTCHD1 GRIN2B DEAF1 RANBP17 KATNAL2 ERBIN RIMS1 KMT5B FOXP1 SCN9A MYTIL GABRB3 SHANK2 MECP2 POGZ GRIP1 SPAST PTEN ILF2 TNRC6B RELN INTS6 USP7 SCN2A IRF2BPL WAC SETD5 KAT2B SYNGAP1 KMT2A TBR1 KMT2C TRIP12 MAGEL2 WDFY3 SHANK3 KDM5B NAA15 GIGYF2 SLC6A1 FMR1 SFARI Gene
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Autism Cells Circuits Behavior Genes
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Autism Cells Circuits Behavior Genes
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Autism models Inhibitory interneuron dysfunction in autism Altered Excitation-Inhibition (E-I) balance Intense world theory of autism Medial prefrontal cortex in social communication & “theory of mind” Autism as a “developmental disconnection syndrome”
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Autism animal models Contruct validity Face validity Animal model Same underlying cause? Same phenotype?
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Three chamber task Most mice show a preference for the chamber containing a mouse. Not showing that “social preference” is considered an autism-like behavior.
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  • Spring '16
  • Colgin
  • Asperger syndrome, Han

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