Aug 28 - Autism

Question 1

how is autism spectrum disorder (ASD) diagnosed?

Answer 1

• developmental milestones
• family history of ASD
• biological gender, male:female = 4:1 risk

Question 2

characteristics of ASD

3 main components

Answer 2

1. persistent defecits in social communications and interactions
2. repetitive patterns of behavior, motor movements
3. hyper/hypo-reactivity to sensory input

*twin factor = 82%; strong indication of genetic factors involved in ASD

Question 3

gene alteration in ASD

what genes are altered?

Answer 3

no specific genes cause ASD
> genes associated w/liklihood (manhattan plot)
* there are hundreds of genes associated with ASD
* multiple people express multiple gene alterations
* VARIATION

Question 4

what is the role of SHANK3 in the brain?

location and purpose

Answer 4

important scaffolding protein
- tethers and organizes intermediate scaffolding proteins
- located in exitatory synapses > crucial for proper synaptic development and function

Question 5

describe:

SHANK3

Answer 5

postsynaptic protein
- disruption at at genetic lvl is though to be responsible for non-syndromic ASDs
- SHANK family proteins function as scaffold to assemble postsynaptic signalling at glutamatergic synapses

Question 6

returning SHANK3 protein in mice…

what happens? recall results…

Answer 6

reverses austistic-like behaviors in some, but does not conclusively reverse behaviors
- grooming
- time spent grooming
- time spent in open arms (socializing)