Presentation

David Bonar - 2011 - AG Hanisch

Autism Spectrum Disorder: ASD - A very short introduction -

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

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

Myths and Facts 1/12

autism is a disease autism is a hardwired interaction style, an atypical but human condition

Myths and Facts 2/12

autism is a rare condition autism is a common condition prevalence ranging from 1:1000 to 1:100 realistic: 1:250, hard to estimate number of unreported cases and wrong diagnoses

Myths and Facts 3/12

autism is a childhood condition autism is a lifelong developmental disability no cure children with autism grow up to be adults with autism

Myths and Facts 4/12

autism is a new phenomenon first description of child with autism 1799 by Jean Itard (wild boy of Aveyron)

Myths and Facts 5/12

people with autism look different from other people autism is an invisible disability no visible phenotype, no mark of cain

Myths and Facts 6/12

autism is result of emotional deprivation or emotional stress autism is due to parental rejection or cold, unemotional parents complex developmental disability involving organic abnormalities in the functioning of the brain, possibly exacerbated by environmental factors the cause for autism has nothing whatsoever to do with the way parents bring up their children

Myths and Facts 7/12

autistic people have no emotions and generally lack empathy autistic people have strong emotions, but have problems identifying and communicating them perceived lack of empathy usually reciprocal

Myths and Facts 8/12

people with autism wish to avoid social contact people with autism are often keen to make friends but, due to their disability, find this highly difficult and frustrating

Myths and Facts 9/12

autism is a mental retardation autism encompasses the whole range of mental performance IQ tests not designed for ASD

Myths and Facts 10/12

people with autism cannot be educated appropriate structured support can help individuals with autism reach their full potential

Myths and Facts 11/12

All people with autism have a extraordinary savant ability like the Dustin Hoffman character in the film Rain Man. less than 200 individuals world wide reported to have true savant abilities (savant is not genius! compare: idiot savants) about 50% autistic

Myths and Facts 12/12

Dustin Hofmann plays an autistic person in the movie Rain Man inspired by Kim Peek Opitz-Kaveggia-Syndrome (X-chomosomal aberration), and not autism symptoms: hyperactivity, mental retardation, severe constipation, severe hypotonia, partial or complete loss of the corpus callosum savant ability

http://www.thelostogle.com/2011/01/19/gentle-readers-oliviamunn-how-to-lose-weight-and-rain-man/various-oscar-winnersretrospective-1930-to-1987/

http://www.adelaidenow.com.au/news/breakingnews/man-who-inspired-hit-rain-man-movie-dies/storye6frea73-1225812941644

What is ASD?
Autistic spectrum disorder (ASD) is a condition that affects how the brain functions. It affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. A person who has autism is said to have autism SPECTRUM disorder. This is because the symptoms of autism (and their individual intensity) can vary highly from person to person, and each can range from mild to very severe. ASD is always a severe handicap.
A.C.Baker Deputy Director Disability October 2006

essential criteria for ASD (DSM-IV, ICD-10) 1. qualitatively restricted social interaction 2. qualitatively restricted communication 3. limited repetitive, stereotype behavior patterns concerning interests, activities, work pervasive developmental disorder PDD differential diagnosis by an autism specialist essential

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 Asperger syndrome adults => differential diagnosis mandatory

Kanner Syndrome

average prevalence in population ADHD boys 9 %, girls 3 % anxiety disorder 7 % depression 11 % (male:female ratio 1:2) bipolar disorder 3 %

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

ASD statistics
prevalence of ASD 1 out of 110 children is 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 Developmental Disabilities 2010 Kanner Syndrome

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

4 scientifically observable levels of ASD

1. 2. 3. 4. genetics (main cause) physiology: neurodevelopment inner world: perception and cognitive style interaction: social, emotional, executive functions

ASD genetics
ASD risk factors twin studies: comparison of monozygotic and dizygotic twins heritablity range between 36% and 95.7% for MZ 0% and 23.5% for DZ => highly heritable, environmental influence unknown

vulnerability genes

environmental influence

ASD genetics
no single gene model, each ASD individual with potentially unique genetic assets theory: synergetic multi-gene interactions, each gene contributing to vulnerability overlapping genetic influences with many other disorders to date: over 100 affected genes found; each account for only a small percentage of people with autistic traits
(not representative; preliminary data)
Catalina Betancur 2010 - Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

examples:
neurexin 1 (NRXN1) helps glue together neurons at the synapse synaptic ras GTPase activating protein 1 (SYNGAP1) mental retardation tuberous sclerosis 1 (TSC1) cortical dysplasia insulin-like growth factor 2 (IGF2) neurogenesis 7-dehydrocholesterol reductase (DHCR7) brain development neurofibromin 1 (NF1) learning deficits

 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)

ASD neurologic development

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

overgrowth of neurons, glial cells, accompanied by lack of synaptic pruning extra tissue that causes the increase in size not well utilized or organized increase in gray-matter volume particularly in the temporal lobes
(Nelson et al., 2001) (Aylward et al., 2002) (Herbert et al., 2002; Rojas et al., 2002).

early

smaller

amounts of white matter compared to gray matter in

toddlers and adolescents

reduced

size of the corpus callosum in adults integration

(Hardan, Minshew & Keshava, 2000)

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

all regions potentially affected: larger brain, higher gray matter volume, disrupted white matter cellular columns
http://www.apa.org/Images/brain-autistic-volume_tcm7-96758.gif

ASD and cognitive tasks

fMRI of brain activation: scans systematically 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 the words are generally positive or negative => interpretation: restricted use, restricted interplay of distant regions => changes in activation pattern evidence alternative, often inadequate, yet sometimes successful, brain organization and utilization (here: concerning self-reflection)

http://www.technologyreview.com/computing/24602/page2/

ASD perception: filter deficiency

hypersensitivity hypervision hypertactility hyperhearing hypertaste/smell autistic filters PAIN! compensation of sensory stress by stimulation (superimposed) isolation, sensory depravation physical barriers, insulation medication (i.e. on GABA-system) perceived input level * ** *** * ** *** neuro-typical
* hypersensitive ** median *** hyposensitive

sensitivity of sensory subcategories

input

pos.

neg. pos. overlap

paradox reaction
http://worldmusic-usa.com/wp-content/uploads/2010/10/BSS-Audio-Opal-FCS-966-Graphic-Equalizer-300x81.jpg http://us.cdn2.123rf.com/168nwm/petrol/petrol0805/petrol080500019/3054420-abstract-vector-illustration-of-a-graphic-equalizer.jpg

ASD behavior
There is no stereotype ASD behavior! but:

communication
literal, logical, pedantic, blunt, hurtfully frank, idiosyncratic, unusual inflection problems with non-verbal communication (weak central coherence) 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 take someone elses perspective unbalanced introversion/extraversion impulsiveness/erratic behavior social situations often seen as fake, ridiculous; frustrating to learn to fit in and act like one enjoys

ASD behavior
executive functions
inflexible routines, ritualised behaviors, problems coping with change 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 sensory overload, high anxiety, stress attention deficits, one track mind

"Reality to an autistic person is a confusing, interacting mass of events, people, places, sounds and sights. There seems to be no clear boundaries, order or meaning to anything. A large part of my life is spent just trying to work out the pattern behind everything. - A person with autism
A.C.Baker Deputy Director Disability October 2006

Thank you for your attention deficit!

Hypersensitivity to light
without sunglasses with sunglasses

You

http://www.shutter-speed.ch/wordpress/wp-content/uploads/2011/02/reihe.jpg 10.10.11

Light refraction effect

You

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

ASD neurologic development

corpus callosum cerebral cortex basal ganglia brain stem cerebellum amygdala hippocampus

corpus callosum: hemisphere communication cerebellum: motor activity, balance regulation, body movements, coordination, muscles used while speaking brain stem: cerebral signal relay station
http://mentalhealth.gov/images/pubs/brain-structures-autism.gif

cerebral cortex: higher mental functions, general movement, perception, behavioral reactions, impulse control amygdala: emotional responses hippocampus: short term memory basal ganglia: regulates automatic movement

ASD and cognitive style

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

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

ASD and cognitive style

test: theory-of-mind

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

heuristic: top-down bottom-up

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