autismus vortrag

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    Presentation

    David Bonar - 2011 - AG Hanisch

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    Autism Spectrum Disorder: ASD

    - A very short introduction -

    http://www.examiner.com/images/blog/replicate/EXID2195/images/brain-puzzle.jpg

    What it is not,What it is,and what it looks like.

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    Myths and Facts 1/12

    autism is a disease autism is a hardwiredinteraction style,

    an atypical but humancondition

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    Myths and Facts 2/12

    autism is a rare condition autism is a commoncondition

    prevalence ranging from

    1:1000 to 1:100

    realistic: 1:250, hard toestimate number of

    unreported cases andwrong diagnoses

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    Myths and Facts 3/12

    autism is a childhoodcondition

    autism is a lifelongdevelopmental disability

    no cure

    children with autismgrow up to be adultswith autism

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    Myths and Facts 4/12

    autism is a newphenomenon

    first description of childwith autism 1799 by JeanItard

    (wild boy of Aveyron)

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    Myths and Facts 5/12

    people with autism lookdifferent from otherpeople

    autism is an invisibledisability no visiblephenotype, no mark of

    cain

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    Myths and Facts 6/12

    autism is result ofemotional deprivation oremotional stress

    autism is due to parentalrejection or cold,unemotional parents

    complex developmentaldisability involvingorganic abnormalities in

    the functioning of thebrain, possiblyexacerbated byenvironmental factors

    the causefor autism hasnothing whatsoever todo with the way parentsbring up their children

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    Myths and Facts 7/12

    autistic people have noemotions and generallylack empathy

    autistic people havestrong emotions, buthave problems

    identifying andcommunicating them

    perceived lack ofempathy usuallyreciprocal

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    Myths and Facts 8/12

    people with autism wishto avoid social contact

    people with autism areoften keen to makefriends but, due to their

    disability, find this highlydifficult and frustrating

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    Myths and Facts 9/12

    autism is a mentalretardation

    autism encompasses thewhole range of mentalperformance

    IQ tests not designed forASD

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    Myths and Facts 10/12

    people with autismcannot be educated

    appropriate structuredsupport can helpindividuals with autism

    reach their full potential

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    Myths and Facts 12/12

    Dustin Hofmann plays anautistic person in the movieRain Man

    inspired by Kim Peek

    Opitz-Kaveggia-Syndrome(X-chomosomal aberration), andnotautism

    symptoms: hyperactivity, mentalretardation, severe constipation,severe hypotonia, partial or

    complete loss of the corpuscallosum

    savant ability

    http://www.thelostogle.com/2011/01/19/gentle-readers-olivia-munn-how-to-lose-weight-and-rain-man/various-oscar-winners-

    retrospective-1930-to-1987/

    http://www.adelaidenow.com.au/news/breaking-news/man-who-inspired-hit-rain-man-movie-dies/story-e6frea73-1225812941644

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    What is ASD?

    essential criteria for ASD

    (DSM-IV, ICD-10)

    1. qualitativelyrestricted socialinteraction

    2. qualitativelyrestrictedcommunication

    3. limited repetitive, stereotypebehavior patterns concerning

    interests, activities, work pervasive developmentaldisorder PDD

    differential diagnosis by anautism specialist essential

    Autistic spectrum disorder (ASD)is a condition that affects how thebrain functions. It affects how aperson communicates with, andrelates to, other people. It also

    affects how theymake sense ofthe world around them.

    A person who has autism is said tohave autism SPECTRUMdisorder. This is because thesymptoms of autism (and their

    individual intensity) canvaryhighly from person to person, andeach can range from mild to verysevere. ASD is always a severehandicap.

    A.C.Baker Deputy Director Disability October 2006A.C.Baker Deputy Director Disability October 2006

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    ASD statistics

    commorbidity of ASD

    ADHD / ADD anxiety disorders depression bipolar disorder genetic disorders (i.e. tuberous sclerosis)

    chromosome defects mental retardation metabolic defects epilepsy / seizures

    sleep disorders Tourette syndrome obsessive compulsive disorder (OCD) mutism

    significant increase in minor physical abnormalities anorexia nervosa schizophrenia alexithymia

    prosopagnosia self-harm allergies auto-immune diseases

    severe increase in suicide rate (average in population ca.1% of all causes for death) especially with Aspergersyndrome adults

    => differential diagnosis mandatory

    average prevalence in population

    ADHD boys 9 %, girls 3 %

    anxiety disorder 7 %

    depression 11 % (male:female ratio 1:2)

    bipolar disorder 3 %

    Kanner Syndrome

    Kanner syndrome: IQ < 70

    Asperger syndrome: IQ > 70PDD-NOS: not quite ASD

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    ASD statistics

    prevalence of ASD

    1 out of 110 childrenis diagnosed with

    ASD (0.9 %) in UK 1 in 70 boys (1.4 %) 1 in 315 girls (0.3 %)

    ratio approx. 4:1

    National Center on Birth Defects and DevelopmentalDisabilities 2010

    http://www.iancommunity.org/cs/ian_research_reports/ian_research_report_13 22.06.2011

    KannerSyndrome

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    4 scientifically observable levels of ASD

    1. genetics (main cause)

    2. physiology: neurodevelopment

    3. inner world: perception and cognitive style4. interaction: social, emotional, executive

    functions

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    ASD genetics

    twin studies: comparison of monozygotic

    and dizygotic twins heritablity range between

    36% and 95.7% for MZ0% and 23.5% for DZ

    => highly heritable,

    environmental influenceunknown

    vulnerability

    genes

    environmental

    influence

    ASD risk factors

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    ASD genetics

    no single gene model, eachASD individual with potentiallyunique genetic assets

    theory: synergetic multi-gene

    interactions, each genecontributing to vulnerability

    overlapping genetic influenceswith many other disorders

    to date: over 100 affected

    genes found; each account foronly a small percentage ofpeople with autistic traits(not representative; preliminary data)

    examples:

    neurexin 1 (NRXN1) helps gluetogether neurons at the synapse

    synaptic ras GTPase activating

    protein 1 (SYNGAP1) mentalretardation

    tuberous sclerosis 1 (TSC1) corticaldysplasia

    insulin-like growth factor 2 (IGF2)

    neurogenesis 7-dehydrocholesterol reductase

    (DHCR7) brain development

    neurofibromin 1 (NF1) learningdeficits

    Catalina Betancur 2010 - Etiological heterogeneity in autism spectrum disorders:

    More than 100 genetic and genomic disorders and still counting

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    ASD neurologic development larger heads than the general population (Aylward, et al., 2002) brains of toddlers with autism 10 % larger than same-aged peers

    continue to be larger than matched aged peers throughout life(Courchesne et al., 2001, Herbert et al., 2003)

    but: no difference in head size at birth (Lainhart et al., 1997)

    early overgrowth of neurons, glial cells, accompanied by

    lack of synaptic pruning (Nelson et al., 2001)

    extra tissue that causes the increase in sizenot well utilized or organized (Aylward et al., 2002)

    increase in gray-matter volume particularly in the temporal lobes(Herbert et al., 2002; Rojas et al., 2002).

    smaller amounts of white matter compared to gray matter intoddlers and adolescents

    reduced size of the corpus callosumin adults

    (Hardan, Minshew & Keshava, 2000)

    difficulties with inter-regional signal integration(white matter) (Horwitz et al., 1988)

    all regions potentially affected:

    larger brain, higher gray matter volume,

    disrupted white matter cellular columnshttp://www.apa.org/Images/brain-autistic-volume_tcm7-96758.gif

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    ASD and cognitive tasks

    fMRI of brain activation: scanssystematically report changes in

    activation of some brain regions

    self-reflection test: objective 1: think about how words

    naming traits describe oneself

    objective 2: think about whether thewords are generally positive or negative

    => interpretation: restricted use,

    restricted interplay of distant regions=> changes in activation pattern evidence

    alternative, often inadequate, yetsometimes successful, brainorganization and utilization

    (here: concerning self-reflection) http://www.technologyreview.com/computing/24602/page2/

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    ASD perception: filter deficiency

    pos. neg. pos.

    overlap

    filters sensitivity of sensory subcategories perceived input levelautistic

    neuro-typical

    input

    *

    *

    **

    **

    ***

    ***

    ** median

    * hypersensitive

    *** hyposensitive

    https://reader009.{domain}/reader009/html5/0506/5aee53de1807c/5aee53ed285db.jpg

    http://worldmusic-usa.com/wp-content/uploads/2010/10/BSS-Audio-Opal-FCS-966-Graphic-Equalizer-300x81.jpg

    hypersensitivity

    hypervision hypertactility

    hyperhearing hypertaste/smell

    compensation of sensory stress by

    stimulation (superimposed) isolation, sensory depravation

    physical barriers, insulation medication (i.e. on GABA-system)

    PAIN!

    paradox reaction

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    ASD behavior

    There is no stereotype ASDbehavior! but:

    communication literal, logical, pedantic, blunt,

    hurtfully frank, idiosyncratic,

    unusual inflection problems with non-verbal

    communication (weak centralcoherence )

    wrong emotional affect timing (rhythm of taking turns)

    less pragmatic use of language(adapting use to context)

    social relationships insufficient emotional competence:

    overwhelming emotions

    insufficient ability to read emotions insufficient social competence:

    theory of mind, inability to takesomeone elses perspective

    unbalanced introversion/extraversion impulsiveness/erratic behavior social situations often seen as fake,

    ridiculous; frustrating to learn to fit inand act like one enjoys

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    ASD behavior

    executive functions inflexible routines, ritualised

    behaviors, problems coping withchange

    difficulties generalizing

    information to new situations control issues: tenacity,

    perseveration, stubborness problems in making and

    executing plans unusual response to stimuli

    risk aversion due to sensoryoverload, high anxiety, stress

    attention deficits, one trackmind

    "Reality to an autistic person isa confusing, interacting massof events, people, places,

    sounds and sights. Thereseems to be no clearboundaries, order or

    meaning to anything. A largepart of my life is spent just

    trying to work out thepattern behind everything.

    - A person with autism

    A.C.Baker Deputy Director Disability October 2006A.C.Baker Deputy Director Disability October 2006

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    Thank you for your attention deficit!

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    Hypersensitivity to light

    https://reader009.{domain}/reader009/html5/0506/5aee53de1807c/5aee540aea93c.jpg 10.10.11

    without sunglasses with sunglasses

    You

    I

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    http://img.wallpaperstock.net:81/fat-schneemann-wallpapers_11980_1152x864.jpg 10.10.11

    Light refraction effect

    You I

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    ASD neurologic development

    cerebral cortex

    amygdala

    hippocampus

    basal ganglia

    brain stem

    corpus callosum

    cerebellum

    corpus callosum: hemispherecommunication

    cerebellum: motor activity, balanceregulation, body movements, coordination,

    muscles used while speaking

    brain stem: cerebral signal relay station

    cerebral cortex: higher mental functions,general movement, perception, behavioralreactions, impulse control

    amygdala: emotional responses

    hippocampus: short term memory

    basal ganglia: regulates automatic

    movementhttp://mentalhealth.gov/images/pubs/brain-structures-autism.gif

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    ASD and cognitive style

    blue: region for object recognition red: region for face recognition

    http://www.wrongplanet.net/postt142060.html

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    ASD and cognitive style

    test: theory-of-mind

    http://www.post-gazette.com/images4/20080917Brain_autism.gif

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    heuristic:

    top-down

    bottom-up

    http://psycnet.apa.org/journals/neu/7/3/images/thumb_neu_7_3_325_fig1a.jpg