Autism Seminar

Paul Eugen Bleuler coined terms as schizophrenia, schizoid, autism

from Greek “autos” = self

social withdrawal from schizophrenic adults

characters of unusual behaviour

literal interpretation of the world

“childhood autism” or “Kanner syndrome”

description of 11 children in 1943

key features: extreme autistic aloneness + anxiously obsessed desire for the preservation of sameness

further features: excellent rote memory, delayed echolalia, hypersensitivity to stimuli, limitations in activity, repetitive movements, verbalizations, interests, special relations to objects for self-stimulation (-> prevent overload), good cognitive potential although many had learning difficulties

same time as Kanner, both made a separation to schizophrenia (Kanner probably drew on his work)

-> early undertanding: Asperger as milder form of autism

-> summary of both observed conditions as in DSM-5’s Autism Spectrum Disorder (ASD)

negative characterisations -> misguided and abusive treatments

“refrigerator mother” as underlying cause of autism

children were taken away from their families + raised in institutions with animalistic conditioning training

main goal: no more typical autistic behaviour

today: ABA therapy (applied behaviour analysis)

“Die schizoiden Psychopathien im Kindesalter”: description of 6 boys -> Sukhareva detected more children with autistic tendencies

goal: examine the connection and difference between shizophrenia and schizoid psychopathy -> BUT afterwards she replaced schizoid psychopathy with autistic psychopathy

social and motor skills training -> progressive treatment

all 6 boys showed preference for their own inner world with each their own talents (e.g. violin player, number memory)

social struggles, no face recognition, less peer interaction, imaginary friends, clowning behaviour

motor impairments + body constitutions

-> well match with today’s DSM-5 criteria even though 100 years ago

postulated cerebellum, basal ganglia, frontal lobes as autonomical substrate of autistic psychopathy

Asperger was involved in Nazi policies such as Eugenics/Euthanasia

-> admitted various children to Euthanasia

-> their brains being used post mortem for science

-> his name should not be used anymore to describe a condition today (today it’s ASD anyways)

A: impairment in social communication and interaction

B: restrictive repetitive patterns of behaviour

Key points:

atypicalities in social and communication behaviours, restricted and repetitive behaviours, present from a young age onward, sensory sensitivities, possible language or intellectual disability

• variability in the way autism presents

• standardised assessment tools and in-depth interviews

• diagnosis is rare before the age of 3 years

• self-identification

• prevalence ca. 1% with global variation

• hyper- or hypo-sensitivity

• significant obstacles to daily life and/or possibly beneficial

• common comorbidities: anxiety, depression, epilepsy, early mortality

• sub-groups could be beneficial -> better support

• larger sample sizes needed

• broader autism phenotype (BAP)

  • captures autistic features in the general population -> higher rates among biological relatives to autistic people

• heterogenity of autism = fractionated triad

• different behavioural features of autism = multiple dictinct causes (?)

• autism = result of a recipe of genetic and environmental factors (?)

• male to female ratio around 5:1; nowadays more around 3:1

• belief: females requiring a higher etiological load to mainfest autism

• raising awareness that autism may manifest differently in females

  • possibly significant mental health difficulties for autistic females in adolescence and prior to diagnosis

• clinical services conditioned to diagnosing males

• further challenge: large proportion of autistic people identify outside of the gender binary

• unclear: first generation of autistic people only just growing old

• autism diagnosis and intervention standards have drastically changed

• lacking knowledge:

  • links between autism and typical aging processes

  • research on best care for elderly autistic individuals

• autistic adults generally do appear to have a lower quality of life

• autism: characterized against presumed normative standards

• societal norms influence objective research -> false idea of neurotypicality

• problematic study design:

  • implicated external validity and clinical relevance

  • white, middle/upper class male participants

  • “super controls”

• autism: a strongly genetic condition arising from complex interaction of genetic and environmental factors

• huge research efforts to find genetic and neural bases of autism; few major breakthroughs

• heterogenity of etiology: different types of autism and biological pathways

• twin and family studies show genetic component

• majority of cases: autism as a result of the action of hundres of common genetic variants

• moving away from looking for autism genes and towards polygenic scores

• minority of autistic people: rare genetic mutation can be found

• heterogenity of autism and small sample sizes present difficulties for research

• goal: identifying biomarkers and understanding different biological bases to lead to better therapies

• early brain overgrowth in first 4 years

• differences in specific brain regions

• differences in structural and functional connectivity

• reduced/less coordinated activation across the “mentalising network”

• various forms of neuroimaging used

environmental factors:

• rare exposures e.g. to anti-epilepsy drug valproate

• birth complications

• birth by caesarean

• maternal obesity/diabetes

• older parental age

range of mechanisms could be cause, e.g. non-causative association, inflammation, gene-related effect

future use: identify autism prenatally or in infancy, identify subtypes

ethical issues: recruitment of infants in higher likelihood groups, how to apply knowledge when biomarker is identified

key focus: pursuit of early biomarkers for early diagnosis

problem: interventions <—> diagnosed population

• period of early brain overgrowth

  • brain of autistic children enlarged in total brain volume between ages 2-4

  • significant increase in hear circumference persisting until age 5-6

• period of slowed down growth in childhood

• period of accelerated decline in whole brain volume across remaining life span

• mixed findings when brain overgrowth begins

  • differences probably manifest within first 2 years of life, before first behavioural symptoms are observed

• possibly driven by different tissue types and/or differences in the amount of cerebrospinal fluid

• possibly due to accelerated expansion of the cortical surface, enhanced thickening of the cortical sheet, or a combination of both

• possible root in cellular microarchitecture: differences in columnar organization of the cortex

• possible variations in neuronal density and abnormal cell patterning at the cortical grey/white matter boundary

• large heterogenity: significant overgrowth appears to be present only in a minority of autistic people

• various methodological confounds that limit transfer to clinical setting, e.g. changes in population and context norms

• regional rather than global variation of brain overgrowth may be better suited as a biomarker

• individual components underlying autism:

  • fronto-temporal and fronto-parietal regions

  • limbic brain regions

  • fronto-striatal circulatory

  • cerebellum

• many atypical neural structures in autism overlap with regions of the “social and emotional” brain -> deficits in socal cognition

• BUT: these differences are not unique or causal for autism!

• selection bias for males in research

• gender-specific differences in clinical symptoms: males more externalising + females more internalising behaviours

• development of coping strategies in females -> camouflaging their social difficulties

• females might have a higher autism threshold (Schwelle)

• non-genetic factors counteract genetic liability in females

• females and males appear to represent distinct subgroups of autistic individuals -> significant differences in global brain measures found

• multivariate pattern classification (MVPC) approaches -> individual predictions

• diagnostic information from brain anatoms, functioning and connectivity measures

• limitation: binary nature of these approaches

• neuroimaging has the potential to transform from a basic research tool into a clinical application

• extreme male brain theory of autism

  • increased systemizing and decreased empathizing

• mindblindness theory

  • impaired theory of mind in autism