ASD

Question 1

Critiques of androgen theory of autism?

Answer 1

• multifactorial basis - likely
• correlation not causation
• ## inconsisten biomarker evidence

Question 2

isnt’ ASD genetic?

Answer 2

The statement means that studies involving identical twins (monozygotic twins) show that if one twin has autism spectrum disorder (ASD), there is less than a 50% chance that the other twin will also have ASD. For non-identical twins (dizygotic twins), this likelihood is even lower.

This finding implies that:

Genetics alone does not fully account for ASD: Even though identical twins share nearly all their genetic material, the fact that the concordance rate is less than 50% indicates that genetics is not the sole factor in ASD development.

Question 3

how does the ASD brain look like?

Answer 3

inc tot brain volume, more cerebral cortical gray matter (12%), and more cerebral (18%) and cerebellar (39%) white matter than normal,

Question 4

what are genes involved in ASD?

Answer 4

mutations in ADNP lead to a developmental/autistic syndrome in childr

Question 5

when is it diagnose

Answer 5

after age of 3

Question 6

male female diff not due to reporting bias?

Answer 6

There is substantial evidence suggesting that biological differences between males and females contribute to the observed sex differences in ASD prevalence. Genetic and neurobiological factors may play a significant role, with males being more susceptible to developing ASD
Diagnostic Tools and Criteria Are Becoming More Inclusive:
Current diagnostic criteria, such as those outlined in the DSM-5, have been refined over time to be more inclusive of both males and females.

Question 7

What are X-chromosome-related genetic mutations?

Answer 7

X-chromosome-related genetic mutations occur on the X chromosome. Males (XY) are more affected by X-linked mutations because they only have one X chromosome, while females (XX) may be carriers or show milder symptoms due to having two X chromosomes. These mutations can lead to conditions like Fragile X syndrome and Rett syndrome

Question 8

which de novo genes involved in ASD?

Answer 8

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component. Both rare and common genetic variants contribute to ASD. Here’s an overview of the key genes involved:

Rare Variants (High-Impact Genes)
These genes are implicated in ASD due to rare mutations, often de novo (not inherited):

Synaptic Function and Plasticity

SHANK3: Affects synaptic scaffolding and signaling, associated with Phelan-McDermid syndrome and ASD.
NRXN1: Involved in synapse formation and neurotransmitter release.
NLGN3/4: Code for neuroligins, crucial for synaptic communication.