Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues Joshua John Diehl, Ph.D. University of Notre Dame Center for Children and Families Director – F.U.N. Lab

Overall Outline Morning schedule

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Prologue - Introduction

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Part I – Brief History of Autism

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Part II – What is Autism?

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Part III – Diagnosing Autism

Overall Outline

Afternoon schedule

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Part IV – Potential Causes

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Part V – Treatment Approaches

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Part VI – Social, Cultural, Community Issues

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Epilogue – Autism research at Notre Dame

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part I – A Brief History of Autism

What is Autism? 

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A neurodevelopmental disorder Defined by behavior, diagnosed by behavior Considered a “spectrum” of disorders – Not one clearly defined disorder

Has Autism Always Existed? 

Changelings

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Ancient Russia’s “blessed fools”

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Victor – Wild boy of Avyeron and J.M.G. Itard

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King Christian VII of Denmark

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Mozart, Newton, Einstein, Turing?

Early characterizations 

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Asylums and idiots, morons, and imbeciles Not until 1900’s did classification gain importance

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Kraeplin, Bleuler and childhood schizophrenia

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The two great pioneers: Kanner and Asperger

Hans Asperger 1930’s

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Viennese clinician, working in Nazisympathetic hospital Gave lectures about children with “Autistic Psychopathy” Highlighted strengths of children to protect them from eugenics movement

Asperger’s “Little Professors” 

Lack of empathy, inability to form friendships, one-sided conversations

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Clumsy movements

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Intense interest in a very specific topic – Could talk about it incessantly

Leo Kanner

The First Pioneer?

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Clinician originally from Vienna as well Kanner was Jewish, immigrated to U.S. to escape the rise of Nazi’s in the 1920’s Published “Autistic Disturbances of Affective Contact” in 1943

Kanner’s Autism 

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Lack of affective contact, or “autistic aloneness” Mutism or language that is not used for interpersonal communication

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Insistence on sameness

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Cognitive “potential”

Kanner on Autism…1943

“…these children have come into the world with an innate inability to form the usual,

biologically provided affective contact with people…” -

Leo Kanner, from “Autistic Disturbances of Affective Contact” (1943)

Kanner’s Mistakes 

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Thought it was predominantly in high SES families Thought all children had normal levels of intelligence Thought it was unique and there were no associated medical conditions

Kanner & Asperger 

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Did they know of each other’s work?

Some think Kanner knew of the work, but thought that the two conditions were different Political explanation?

Kanner had major influence, and Asperger’s work was ignored for decades

Psychiatry in the Mid-20th Century 

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Freud and psychoanalysis were the major force Focused on role of early experiences Parent-child relationships

Kanner on Autism…1949 “(Children with autism were) exposed from the beginning to parental coldness…They were left neatly in refrigerators which did not defrost. Their withdrawal seems to be an act of turning away from

such a situation to seek comfort in solitude.” -

Leo Kanner, from “Problems of nosology and psychodynamics in

early childhood autism ” (1949)

Enter Bruno Bettelheim

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Bruno Bettelheim…also from Vienna

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Survived concentration camps, came to US

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Faked credentials, became professor oat U. of Chicago, champion of psychoanalysis Took over infamous Orthogenic School

“The Empty Fortress” 1960’s-1970’s

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Autism caused by mothers who withheld love from child Children with autism likened to prisoners in concentration camp Therapy included forced “holding therapy,” isolation from parents

Bettelheim’s Influence 

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Required reading for psychology and psychiatry students well into the 80’s Question about his influence on the current stigma related to “autism" Conflict between parents and doctors, researchers – …when viewed in this context…skepticism of science is understandable

Emergence of the Science of Autism 

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1970’s – Bernard Rimland and the reemergence of a biological basis 1980’s – Lovaas and Applied Behavior Analysis – Cognition: Theory of Mind

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“Asperger’s Disorder” – Lorna Wing translates Asperger’s work right before his death in 1981

Diagnosis of Autism DSM-III: 1980

Needed All of the following for the diagnosis: – Lack of social response to others

– Delay in language development – “Peculiar” speech patterns – Present before 30 months of age

“Rainman” and Awareness

Diagnosis of Autism DSM-III-R: 1987

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8 of 16 symptoms from the following categories: – Social interaction deficits – Delay in language development – Restricted/repetitive behaviors

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Present before 36 months of age

Diagnosis of Autism DSM-IV: 1994

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Addition of Asperger syndrome, PDD-NOS

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Onset before 36 months

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6 of many symptoms from the following categories – Social interaction – Communication (not just delay in language) – Restricted/repetitive behaviors

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Note that these criteria are just for Autism, not for the autism “spectrum”

1990’s

Emergence of the Autism “Spectrum”

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Classifying conditions as “spectrum disorders” becomes a trend – Depression, schizophrenia, many others

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Shared characteristics between Autism, Asperger syndrome and other related disorders Question of whether or not Autism and Asperger syndrome unique, or variations of the same condition

2000: Autism Awareness

Controversy and Conflict 

Do vaccines cause autism?

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Are we overdiagnosing autism?

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Whose responsibility is it treat autism? – The school system? – The mental health system?

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Who is going to pay for treatment? – Who can?

Emergence of Treatment Fads 

Facilitated Communication

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Hormones

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Vitamins, Diets

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Chelation, Lupron (Castration drug)

Where does this leave us? 

A disorder with increasing “awareness,” but a stagnant amount of “knowledge” – (and a lot of misinformation)

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Conflict – Parents, doctors, schools, government, insurance

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A dramatic increase in the need for services, and a lack of training and resources A dearth of research on treatments that work

Summary 

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Autism was first diagnosed in the 1930’s, but has probably always been around Diagnosis has been changing rapidly in the past 30 years Awareness has changed rapidly in the past 10

There is a considerable amount of passion and conflict in the autism community

Further Readings

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A History of Autism – Adam Feinstein Autism: Explaining the Enigma (2nd Edition) – Uta Frith The Creation of Dr. B – David Pollack

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part II – What is Autism?

Disclaimer 

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We know a lot, and we have made a lot of progress But…there is a lot that we don’t know

Hard to say as an “expert,” but important nonetheless I hold very high standards for what I say we know

What is Autism? 

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A neurodevelopmental disorder Defined by behavior, diagnosed by behavior Considered a “spectrum” of disorders – Not one clearly defined disorder

Terminology

Pervasive Developmental Disorders 

Broad diagnostic category

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Includes: – Autism, Asperger syndrome, Rett syndrome, Childhood Disintegrative Disorder – Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS)

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Was not intended to be an Autism spectrum

Autism “Spectrum” 

Autism

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Asperger syndrome – No delay in language – Average to above average intelligence

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PDD-NOS – Pervasive Developmental Disorder (not otherwise specified) – Sometimes called “PDD” colloquially

More (Imprecise) Terminology 

“PDD” or “PDD Spectrum”

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High-functioning autism (HFA) – Versus “classic” autism

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Autism Spectrum Disorders, or Autism Spectrum Disorder?

Triad of Impairments in Autism Communication

Autism

Social interaction

Repetitive Behaviors

Characteristics

Deficits in social interaction 

Peer interactions

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Social/emotional reciprocity – Empathy

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Nonverbal behavior – Eye contact, facial expression

Characteristics

Deficits in social interaction 

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Distinctive More pronounced than would be expected, even for “mental” age Social skills often emerge over time, but remain “odd” – Buying paint at Menards

Characteristics

Deficits in communication 

Pragmatics – What to say – How to say it – When to say it – To whom you should say it

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Language delays

Characteristics

Communication hallmarks 

Echolalia

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Pronoun reversal

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Tone of voice

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Deficits not just the result of intellectual disability

Characteristics

Stereotyped/Repetitive Behaviors 

Repetitive play, need for routines – Kanner’s “insistence on sameness”

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Motor mannerisms

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“Special interests” – Bird HQ

Other Characteristics Sensory Processing

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Not a diagnostic characteristic, but a commonly co-occurring characteristic

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Hyper or hyposensitive

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Not consistent from child to child

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Not present in all children

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Not well-researched

Other Characteristics Splinter Skills

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Strengths and weaknesses – Wide range in overall IQ

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Small proportion of individuals are “savants” – Commonly music, calculation, drawing, memory

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Splinter skills examples

Onset 

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Onset and early development important for differential diagnosis More than half of parents express concerns in first year Almost 90% of parents express concerns by age 2 Very rarely develops after age 3

Onset

Common early red flags 

Language delay

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Concerns that the child may be deaf

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Not developing at same pace as older sibling Regression in skills

High-functioning autism and Asperger syndrome 

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IQ in normal range Research shows that they are identical, based on current definitions Asperger syndrome set to disappear as a diagnosis

Characteristics of HFA and AS 

Language skills, but difficulty with communication – Tone of voice, gestures

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Rigid, black and white thinking, literal

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Trouble understanding social rules – “Is your mother there?”

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Specific interests, more than repetitive behavior – Difficulty conversing outside of those interests

Epidemiology 

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4 to 8 times more common in males than females Co-occurs with many conditions – – – – – –

Intellectual disability Fragile X syndrome Epilepsy Down syndrome OCD ADHD?

Etiological vs. Behavioral Diagnoses 

As causes are discovered, disorders tend to get their own name

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Chromosome 22q11.2 Deletion syndrome

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Shared behaviors, different diagnoses – Rett syndrome, Fragile X syndrome, others

Is Autism an Epidemic?

Current prevalence is 1 in 100

1 in 2,500 in 1993

An Epidemic? 

Expanding definitions

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Increasing awareness – An “achievement?”

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Implications of label for services

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Still, a matter of debate

Outcomes 

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Wide variance Improvement with treatment, especially early IQ, language level are important skills and predictors

Summary 

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Autism is a deficit in communication and social interaction, first and foremost Autism is a spectrum of labels The diagnosis is not a moving target, it’s an expanding one Several viable explanations for rapid increase in prevalence, but we need to know more

Suggested Readings 

Handbook of Autism and Pervasive Developmental Disorders, 3rd edition by Fred Volkmar and colleagues

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A parent’s guide to Asperger syndrome and High-Functioning Autism – Sally Ozonoff and Colleagues

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Coming soon: Encyclopedia of Autism Spectrum Disorders

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part III – How do we diagnose autism?

Diagnosis

What we know 

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Diagnosed based on behavior, so diagnosis is imperfect The earlier the better – …because the earlier children get treatment, the better

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Autism is overdiagnosed and underdiagnosed Major issue is lack of consistency between doctors, schools, states, and countries

How soon? 

The vast majority of diagnoses are made after the second birthday, and some much later – Waiting lists

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Diagnosis accurate, reliable, and valid down to 18 months Some children can receive a preliminary diagnosis as young as 12 months

How low can we go? 

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9 months is a realistic goal Some argue that signs might be present from birth – Baby sibs studies

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Problem of regressions

Ideals of Assessment 

Assessment done over multiple days

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Full medical and school records to review

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Multidisciplinary team that should include – – – – –

Medical - M.D. Cognitive - Psychologist Speech - SLP Motor skills - OT/PT Specialized evaluation if necessary (e.g., Neurologist)

Methods of Diagnosis 

Clinician judgment based on DSM criteria

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Semi-structured play sessions – Autism Diagnostic Observation Schedule (ADOS)

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Developmental history (parent and school)

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Parent interview or questionnaires – Autism Diagnostic Interview (ADI) – SCQ, CARS, MCHAT (for toddlers)

Summary 

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Diagnosis made based on behavior

Appropriate diagnosis includes play, parent developmental history, and clinical judgment Can be diagnosed by second year, possibly earlier Problem of regression

Readings, Resources 

Autism Spectrum Disorders in Infants and Toddlers – Katarzyna Chawarska and colleagues

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First Signs – www.firstsigns.org

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Video Glossary and First 100 Days Kit – www.autismspeaks.org

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part IV – What Causes Autism?

Disclaimer 

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One of the two most controversial topics (along with treatment) Evaluation is based on my independent reading of the literature It is likely (and not surprising) that some may disagree with my conclusions

Have you heard of X cause? 

I hear about a newly hypothesized cause at every talk – (and every month on CNN)

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Television, computers, electromagnetic currents, natural disasters, rain, carpet cleaners…

Doesn’t mean they don’t exist, but I’m focused on potential causes with empirical support

Equifinality and Multifinality 

Equifinality – Multiple pathways that lead to the same outcome

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Multifinality – Single cause or pathway does not necessarily lead to a single outcome

Causes

Kanner on Autism…1943 “…these children have come into the world with an innate inability to form the usual,

biologically provided affective contact with people…” -

Leo Kanner, from “Autistic Disturbances of Affective Contact” (1943)

Causes – A History 

Kanner’s shift

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Bettleheim and “Refrigerator mothers”

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1970’s – Bernard Rimland and a biological basis

Causes Genetics

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Majority of cases seem to originate from a complex genetic predisposition Anywhere from 3-10 or more genes contribute (Rutter, 2005) Does not follow Mendelian inheritance patterns

Causes

Genetics – Twin Studies 

Heritability is 70-90% in monozygotic twins

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Dizygotic twins: Range from 5-37%

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Siblings 25 times more likely to have diagnosis Higher than schizophrenia (i.e., very high)

Causes

Genetics – Simplex vs. Multiplex 

Multiplex families – Multiple diagnoses in family – Likely contribution of multiple genes

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Simplex families – Single diagnosed case in family – Likely single gene mutation

Causes

Genetics – Issues 

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Findings depend on how stringent your criteria are Gene candidates, but no genes Just genetics, or gene-environment interaction?

Causes

Four known environmental links 

Thalidomide

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Misoprostol

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Rubella infection

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Valproic acid

Causes

Environmental - Thalidomide 

Formerly used in as morning sickness treatment

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Exposure during first trimester

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Effects neural tube development

Causes

Environmental - Misoprostol 

Treatment for gastric ulcers

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Exposure during first trimester

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Exposure approximately around 6th week of pregnancy

Causes

Environmental – Valproic Acid 

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Anticonvulsant 11% of children exposed in first 4 weeks of pregnancy Larger number had broader autism phenotype, but not full diagnosis

Causes

Environmental – Rubella Infection 

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Prenatal exposure to rubella infection Risk greatest if exposure is during the first 8 weeks of pregnancy Occurs with other common symptoms of congenital rubella syndrome

Causes

Timing is everything 

Most, if not all teratogens appear to act in first trimester of pregnancy

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Links are weaker later in pregnancy,

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Links are especially weak after birth

Causes

Environment – Increased susceptibility

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Age of mother Prenatal events and postnatal complications

Other possibilities

Do vaccines cause autism? 

What we definitely know – Most (but not all) studies show no vaccine-autism link – All large studies show no link – At most, a small minority of children have vaccine reactions that could lead to a developmental disorder

Do vaccines cause autism? 

What we definitely know – Three proposed links: Mercury, the Measles/Mumps/Rubella vaccine, and # of vaccines – Mercury has been removed from all vaccines except flu vaccine (no change in incidence) – Theoretical link between MMR vaccine and Autism is not the vaccine itself, but the MMR vaccines given together (can be given separately)

Do vaccines cause autism? 

What we probably know – Even if there is a link between vaccines and autism, it would probably only explain a very small number of cases – Not vaccinating your child likely puts them at a greater risk for neurodevelopmental disorders

Causes

Environment – Issues 

A lot of research currently going on

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Gene-environment interactions

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Environmental theories rose out of fear from dramatic increase – But was there a dramatic increase?

The Social Mind

How early does it develop? 

From birth (even before), we prioritize social information – Faces – Voices

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Early difficulties lead to later deficits – Become more pronounced as social interactions become more complex

Developmental Pathways 

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Social-orienting preference vs. objectoriented preference Infants and children with ASD are more likely to orient toward sounds than human voices Most respond faster and better to technological feedback, or non-biological movement

Toddler with Autism

Typically-Developing Toddler

Fusiform Face Area Schultz, 2005

For an in depth review of fMRI and ASD, see South & Diehl, 2010

Mirror Neurons? 

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Related to “Theory of Mind” Monkeys might have area dedicated to the actions of others BUT, no human translation yet

Communication in the brain

Summary 

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Autism is highly heritable, but genetic mechanisms are complex There are known environmental causes, but not the ones you’d think – Possibility of gene-environment interactions

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Current directions include understanding social brain

Recommended Readings 

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Handbook of Autism and Pervasive Developmental Disorders Autism, Causes, Symptoms, Signs, Diagnosis and Treatments – National Institute of Mental Health

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Textbook of Autism Spectrum Disorders – Eric Hollander

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part V – How do we treat Autism?

Disclaimer 

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Treatment is the other controversial topic Evaluation is based on my independent reading of the literature, my own research, and my clinical experience It is likely (and not surprising) that some may disagree with my conclusions

Have you heard of X treatment? 

I hear about a newly hypothesized treatment at every talk – (and every month on CNN)

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Neural synchronization, “CogMed,” Kangen water, Hyperbaric Oxygen treatment Doesn’t mean they don’t work, but today I’m focusing on treatment with empirical support

Treatment 

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Best intervention is early intervention

Biggest issue is a lack of available services Popular techniques – Behavioral Techniques – Medication – Alternative therapies

Treatment 

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There is no single treatment that helps with all of the symptoms of Autism Currently, the best approach involves multiple approaches The best therapy is individualized therapy

Behavior 

Applied Behavior Analysis

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Greenspan Technique

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Joint attention, imitation

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Social Skills Training

Applied Behavior Analysis 

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Shaping behavior through practice and reinforcement Identify target skills, or goals Practice skills, and build them up piece by piece Context is important

Applied Behavior Analysis Benefits

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Empirically-supported, shown to change behavior

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Targets learning style for children with autism

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Can be used with children with limited abilities

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Can be focused, individualized

Applied Behavior Analysis Limitations

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Time consuming

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Generalizability of skills

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Does not catch the essence of social interaction – Focuses on individual skills, rather than gestalt of communication

Greenspan Technique 

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Works with child at their level Engage child based on their responses, their interests, their actions Uses these interests as an impetus for social interactions

Greenspan Technique Benefits

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Can be quite enjoyable, less conflict

Targets social skills in a more natural environment Training is not as intense as it is for other therapies By nature, it involves parents

Greenspan Technique Limitations

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Hard to research outcomes, not as much support as ABA Time consuming, moves at the child’s pace Harder to target behaviors that are disrupting at home or self-injury

Educational approaches 

Tend to have most contact with the child

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Speech therapy

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Occupational therapy

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One-to-one aide, peer mentors

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Classroom structure – ABA Classrooms – DIR Classrooms

TEACCH 

Physical organization of classroom

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Designating work areas

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Scheduling

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Systematized teaching method

TEACCH Examples

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Physical organization of classroom – Limit distractions – Limit number of exits

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Schedule, schedule, schedule

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Defined work areas that are consistent

TEACCH 

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Uses Picture Exchange Communication System (PECS) System provides structure, predictability to day Simplifies language demands

TEACCH Benefits

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Empirically-supported

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Years of work developing, modifying it

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Lots of training resources

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Really takes stress out of classroom

TEACCH Drawbacks

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Not everyone knows about it.

Medication 

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Medications seem to help co-occuring behaviors, but do not specifically treat “autism” Some meds (Risperidone) help some children with self injury, repetitive behaviors Most medications help with what they were designed to help – Antidepressants and depression – Stimulants and attention

New Medication Treatments 

Oxytocin and bonding

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Mematine (for Alzheimer’s)

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Aripiprozol and aggression

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Investigation is very preliminary

Alternative Approaches 

Should be a supplement to therapies that are supported by research

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Under the consultation of your pediatrician

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Be wary of “snake oil salesmen” – …if it sounds too good to be true…

Alternative Approaches 

Diets – Gluten free – Casein free

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Secretin and the “Leaky Gut”

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Supplements (B-12, C, Fish oils)

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Facilitated communication

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Chelation

Treatment Obstacles 

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Treatment is expensive, timeconsuming Not many insurance companies cover it Parents are bombarded with information – How does one separate wheat from chaff?

Summary 

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Treatment can (and often does) involve psychological, educational, medical, and other approaches Treatments have varying levels of research support Major obstacles to treatment include time, cost, and lack of good information

Suggested Readings 

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The TEACCH Approach to Autism Spectrum Disorders – Gary Mesibov Pivotal Response Treatments for Autism – Koegel & Koegel Early Start Denver Model for Young Children with Autism – Rogers & Dawson

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Part VI – Family, community, and cultural issues

“Geek” Syndrome 

Is autism overdiagnosed?

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Yes – Better services often available for children with an autism diagnosis – 30% who visit our program do not meet criteria

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But it’s also underdiagnosed – Many cases missed in communities that lack resources, knowledge

Stigma and autism

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Why can’t we just say the word “autism?” – So many qualifiers needed

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Parents

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Siblings

The short life and death of the Asperger syndrome diagnosis 

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Set to disappear in 2013 Not found to be different from highfunctioning autism Cultural impact of this decision

Insurance 

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Some states mandate coverage, but there are loopholes Even when covered, process is arduous, stressful The perspective of the insurance company – Autism is a lifelong condition – Treatments are disproportionately expensive

Conflict 

Conflict is not new, nor is it specific to this condition – Conflict with schools and services

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Conflict between parents, doctors, and researchers Where did this originate?

Autism and justice system 

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People with diagnosis show no increased risk for committing crimes Nature of condition makes them vulnerable to legal troubles once they are in the justice system

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Diagnosis not readily apparent

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Differences between intellect and social abilities – Perspective-taking

Autism and Interrogation 

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Children with autism at an increased risk for false confessions during interrogation Likely the result of deficits in language and communication, anxiety Repetitive behaviors, echolalia (immediate and delayed) can be particularly problematic

Miranda rights 

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Our current knowledge says that these would be difficult to understand for individuals with autism Presentation style matters – Language comprehension a major issue

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Competence tools not always valid for individuals with autism Research desperately needed in this area

Mental competence

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Intelligence as measured by intelligence tests High intelligence does not translate into social intelligence Communication and thinking style affects responses to questioning

Suggested Reading 

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Salseda et al., 2011. An evaluation of Miranda rights and interrogation in autism spectrum disorders. Research in Autism Spectrum Disorders, 5, 79-85.

Barry-Walsh & Mullen (2004). Forensic aspects of Asperger’s syndrome. The

Journal of Forensic Psychiatry & Psychology, 15, 96–107

Autism in Hillsdale: Causes, Diagnosis, Treatment and Community Issues

Epilogue – My research

Laboratory For Understanding Neurodevelopment

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Est. 2009 Housed in the Center for Children and Families

Autism Research at Notre Dame 

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Genes to therapy Child, Family, Community, Culture Student to professional

Mission 

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High quality research Get students into the field, into the community Resource to the Michiana community

Mission 

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Every child gets cognitive, language, and diagnostic evaluation Every family gets a full report of these findings

Our Team 

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Heidi Miller, L.S.W. – Lab Manager Karen Tang – MIND Institute Currently have 15 talented ND and St. Mary’s undergrads

Social Robots 

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To provide social feedback To teach/model social skills Practice social exchanges

Diagnostic tool

Acknowledgments 

My research is supported in part by the following mechanisms: – NIH Indiana Clinical Translational Sciences Institutes (NIH RR025761) – Project Development Team Grant – Boler Family Foundation

– Rodney F. Ganey, Ph.D. Community-Based Research Grant

Contact information 

Email: [email protected]

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Research interest: [email protected]

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Website: http://www.nd.edu/~jdiehl1/Home.htm – Or just search “Autism at Notre Dame”

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PDF will be available on website by tomorrow

More media 

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Unstrange Minds – Roy Richard Grinker

The Curious Incident of the Dog in the Night-time – Mark Haddon

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Thinking in Pictures – Temple Grandin

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“Adam”

A very special thank you to the children and families that make this work possible.