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AUTISM SPECTRUM CONDITIONS AP SAYGIN Reading Frith 2012 Causes of Autism: Historical • 1950s: “Refrigerator mothers” ! • Childhood szchizophrenia • Autism diagnosis: 1980s Pervasive Developmental Disorders Reciprocal Social Interaction Communication Restricted and Repetitive Behaviors Pervasive Developmental Disorders Impairments in: Nonverbal behaviors: eye gaze, facial expression, body postures, and gestures to regulate social interaction Peer relationships Seeking to share enjoyment, interests, or achievements with other people Social or emotional reciprocity Delay in, or lack of development of, spoken language Impairment in the ability to initiate or sustain a conversation with others Stereotyped and repetitive use of language or idiosyncratic language Lack of varied, spontaneous make-believe play Motor stereotypies Repetitive behaviors Narrow Interests Rituals, routines Preoccupation with objects or even parts of objects Prevalence Why the increase? • Changes in diagnostic criteria in 1994 – New changes DSM5 • Awareness and detection – Diagnostic tools and early detection – Awareness: Doctors, parents, schools… Changes in Diagnostic Criteria, 1994 • Autism a cluster of symptoms • Spectrum idea • May actually be different conditions that don’t belong under the same umbrella High rates of ASD symptoms in… • Epilepsy, Fragile X syndrome, Partial tetrasomy 15, Down syndrome, Rett complex variants, Williams syndrome,, Fetal alcohol syndrome, Thalidomide embryopathy, Herpes and rubella infection… • May provide clues to neurobiology Early Diagnosis • Autism Diagnostic Interview (ADI) – Parents are interviewed • Autism Diagnostic Observation Schedule (ADOS) – Child is observed • Based on developmental “benchmarks” Early Diagnosis • Research under way to develop earlier and earlier detection • MRI and fMRI “biomarkers” • Increased availability of diagnostic tools might be helping to correct previous under-diagnosis • Or possibly leading to over-diagnosis Media Attention Pros and Cons Awareness leads to increased funding and research But also can cause panic among the public re the “autism epidemic” On that note • Vaccines do NOT cause autism – More scientific rephrase: Evidence that vaccines do not cause autism MUCH stronger than evidence that they do – Vaccines are pretty important! – Unfortunately, many in the USA still believe the false assertions about vaccines, in some places creating epidemics of infectious diseases What’s the story with vaccines anyway… • Lets look at it in comic form… • Basically, the study had 12 subjects, was unethically conducted in the first place, was not supported by the children’s medical records, • Wakefield had a huge financial conflict of interest he did not disclose • Paper retracted, Wakefield lost his medical license • Yet the damage goes on… – http://www.jennymccarthybodycount.com/ – http://www.facebook.com/thinkingpersonsguidetoautism Children with Autism • Early signs – Lack of eye contact – Lack of affect – Lack of orienting and responding to others • Delayed at – Smiling, responding to name – Sitting up, pointing – Demonstrating interest to other people Children with Autism • Not commonly diagnosed before 2 years of age – Active research pushing this earlier and earlier (e.g., Eyler, Pierce & Courceshne, 2011 12-24 months fMRI) • By 3 years of age, difficulties in three major domains are typically observed Multi-Disciplinary Assessment Developmental History * Psychologists, Psychiatrists, Social Workers Cognitive/Developmental/Behavioral * Psychologists Diagnostic Assessment * Psychologists, Psychiatrists Speech, Language, & Communication * Speech & Language Pathologists Assessment of Sensory and Motor Skills * Occupational Therapists, Physical Therapists Specialized Medical Evaluations * Neurologists, Geneticists, GI Neuropsychological, Academic, Vocational Evaluations * Psychologists, Educational and Vocational Specialists Symptom Domains • Communication • Social interaction • Repetitive/Restrictive behavior Communication • 33-50% are non-communicative • Delayed language • Repeating sentences or questions addressed to them (“parrot speech”) • Lack of joint attention limits interactions Social Deficits • Less eye contact • Difficulty in forming and maintaining relationships • Less turn-taking • Less gesture with speech • Less imaginative play • Less answering to own name • Impairments in theory of mind Restrictive/Repetitive Behavior • • • • • • Compulsive behavior Ritualistic behavior Stereotypy Self-injury May be initiated by stress or pleasure “Stimming” – self stimulation Changes in DSM 5 • DSM-IV: Too broad. Many children categorized as Asperger or PDD:NOS (Pervasive developmental disorder: Not otherwise specified) may not need services or treatment – Can explain “autism boom” • Social and communicative symptoms grouped together since they correlate • Sensory disorder added to symptoms – Abnormal responses to sensory stimuli – e.g., extreme sensitivity to light, sound, touch • Early research suggests DSM5 more accurate model than DSM-IV but may benefit from revision (4/7 instead of 5/7) High Functioning Individuals • Aspergers • Temple Grandin • Have recently expressed themselves more and more (especially online) • Perhaps not a disorder, just not “Neurotypical” Other Findings • Genetic component – Siblings born of families with an ASD child have heightened risk of being diagnosed • 3%: core syndrome • 10-20%: spectrum disorder • Identical twins affected in 60-90% • Opportunity to study “at risk” populations – First-degree relatives: increased rates of affective disorders (depression, bipolar), social phobia, obsessive-compulsive disorders, (ADHD?, Tourette syndrome?) – First-degree relatives: possibly increased rates of learning disorders Other Findings • 2:1 to 4:1 ratio for Male:Female • Highly increased risk of seizure disorders • Parents – Maternal and paternal age – Socioeconomic status and paternal education – Maybe a diagnostic difference Intellectual Deficits and Strengths • Close link between autism and mental retardation • Between 76% and 89% have impaired intelligence • Savant abilities appear in a very small percentage (5%). Brain differences • Brain size/grey matter volume Schuman et al 2010 Brain differences • Further relative differences – Cerebellum – Corpus callosum – Amygdala – Cingulate – Fusiform gyrus Possible atypical face processing Eye gaze and faces Klin et al.,2002; Pelphrey et al., 2002 Brain Connectivity • May be a more realistic avenue than gross anatomy and may explain those findings • Evidence for underconnectivity • Links to genetics Some theories of autism • Currently these don’t “explain” autism and some are more hokey than others but worth knowing about • Hypotheses – Extreme male/Empathizing-Systemizing – Broken mirror neurons • Preferred version: “The social brain” – Weak central coherence – Executive dysfunction/Attention – Theory of Mind Empathizing/Systemizing • Simon Baren-Cohen • Measures a person's strength of interest in empathy (the drive to identify a person's thoughts and feelings and to respond to these with an appropriate emotion); and a person's strength of interest in systems (defined as the drive to analyse or construct a system). • Extremely high S to E ratio ~ Autism • High S to E ratio also ~ Males • Fetal testosterone • Linked to sex differences in cognition (an important book: Delusions of Gender, C. Fine) Mirror Neuron System Dapretto et al. - Social/communicative deficits ~ Broken mirror neuron system - The evidence is not very strong and many counterexamples available - Possibly part of autism, but not likely to explain social deficits - The social brain: A complex network that enables us to recognize other individuals, evaluate their mental states, interact with them. - Not just mirror neurons (includes STS, Inferotemporal, amygdala, orbitofrontal – Pelphrey & Carter, 2006) Weak Central Coherence • • • • • Characterization of processing deficits Failure of holistic processing Bias toward details, local Difficulty with global, “big picture” Poor use of language context Executive Dysfunction • Could explain some other behaviors such as repetitive behaviors and inability to adapt in conversation • A relative lack of social attention (e.g, faces, voices, people) ; attention to the inanimate environment (e.g., Chawarska, Klin, & Volkmar, 2008) Theory of Mind • Inability to put yourself in others’ shoes • Not understanding people’s behavior based on their mental states such as desire, belief and knowledge • Failing to understand difference in perspective • Sally Ann and ‘false belief’ tasks Treatment/Remediation • Parents, occupational therapists – Does help • Behavior management techniques can improve self-injury, self-stimulation, and other targeted behaviors • No medication for majority – Dopamine antagonists, atypical neuroleptics, anticonvulsants, SSRIs, stimulants, lithium, high doses of vitamins, amphetamines (and more) • Diet • Physical exercise • Sensory awareness Implications • All people are individuals first and foremost; at least as true in autism as in “neurotypicality” • Respect for people on the spectrum • Focus on managing the environment • Foster adaptive skills • People with autism; not “autistic” Summary • Autism is a complex (and changing) diagnosis • Behavioral diagnosis – Emerging biomarkers • • • • Not caused by vaccines or “refrigerator moms” Genetic factors Environmental factors (not known) Neurobiology under study – Larger brains – Some local differences – Connectivity differences • Individual differences between people on the spectrum