Autism

PBS6

Singer (1998)

Neurodiversity paradigm = framing neurological differences as natural variation (like biodiversity), rather than a pathology

What is the neurodiversity paradigm?

Framing neurological differences as natural variation (like biodiversity), rather than a pathology (Singer., 1998)

Who coined the neurodiversity paradigm and when?

Singer, in 1998

Hodges et al (2020)

Autism = a neurodevelopmental condition marked by social/communication difficulties and the presence of repetitive or restricted interests or behaviours

Autism definition

A neurodevelopmental condition marked by social/communication difficulties and the presence of repetitive or restricted interests or behaviours (Hodges et al., 2020)

Martini et al (2022)

High rates of co-occurring conditions with autism, including anxiety, depression, ADHD, etc

What conditions co-occur with autism?

Anxiety, depression, ADHD, etc (Martini et al., 2022)

Deficits in Executive Functioning

Hill (2004)

Craig et al (2016)

Deficits in Theory of Mind

Baron-Cohen (1985)

Adams (2013)

Mottron et al (2021)

Enhanced perceptual functioning in individuals with autism.

Cognitive deficits in autism include:

Theory of Mind (Baron-Cohen, 1985; Adams, 2013)

Executive Functioning (Hill, 2004; Craig et al., 2013)

Pellicano et al (2022)

Hybrid approach in research: increasd blend of neurodiversity and clinical frameworks.

Chouinard et al (2018)

Priors in autism - seeing the world as it is, not as it ought to be

Double empathy problem

Milto (2012)

Milton et al (2020)

Hansen et al (2014)

Abnormal DNA methylation patterns in genes linked to brain development found as an epigenetic mechanisms in individuals with autism

Hodges et al (2020) reviewed…

Environmental factors of autism, including pre/perinatal factors such as maternal infection, toxin exposure, medication (calproate), obstetric complications.

What are some environmental factors of autism?

Pre/perinatal factors such as maternal infection, toxin exposure, medication (calproate), obstetric complications.

Bolton et al (2015)

Meta-analysis on twin studies of autism.

Havdahl et al (2021)

Twin studies place heritabilty estimates for autism at around 50-80%, with concordance rates higher in MZ than DZ twins

Where do twin studies place heritabilty estimates for autism?

At around 50-80% (Havdahl et al., 2021)

Yoo (2015)

Autism is one of the most complex and heterogeneous neurodevelopmental disorders.

Jansen et al (2020)

Polygenic risk scores: many common variants contribute small cumulative effects

What is a de novo mutation?

A spontaneous changes not inherited from parents.

What does CNV stand for?

Copy number variants.

Common variants

Found across the population; genetic ‘nudges’ towards autism which, in combination, meet diagnostic thresholds; less likely to occur with intellectual disability

Rare variants

Affect fewer individuals but have larger, more disruptive effecrs; can be de novo or CNV, wherein chunks of DNA are missing or replicated; tends to be present with intellectual disability

What are CNVs?

Chunks of DNA are missing or replicated

Epigenetic mechanisms of autism include:

GxE prenatal interactions in genetically susceptible individuals; abnormal DNA methylation patterns in genes linked to brain development (Hansen et al., 2014); accumulate across developent and are influenced by environment