Autism andAutism andAutism Spectrum DisordersAutism Spectrum Disorders

Professor Graham Martin OAMProfessor Graham Martin OAMDirector Child and Adolescent PsychiatryDirector Child and Adolescent Psychiatry

The University of QueenslandThe University of Queensland

AutismAutism

A severely disabling condition that develops in first 3 A severely disabling condition that develops in first 3 years of lifeyears of life

Occurs approx 1 in every 5-600 birthsOccurs approx 1 in every 5-600 births More common in boys (4:1)More common in boys (4:1) Features vary from child to child, and differ in Features vary from child to child, and differ in

severity from child to childseverity from child to child No influence from ethnic, racial, social factors, No influence from ethnic, racial, social factors,

income, lifestyle or parental educational levelsincome, lifestyle or parental educational levels

Common FeaturesCommon FeaturesCommunication problemsCommunication problems Both verbal and non-verbal, with relative lack of speech, Both verbal and non-verbal, with relative lack of speech,

repeated words, phrases or patternsrepeated words, phrases or patterns

Limited Social InteractionsLimited Social Interactions Poor eye contact and difficulty interactingPoor eye contact and difficulty interacting Difficulties expressing emotionsDifficulties expressing emotions Poor perception of how others think and feelPoor perception of how others think and feel

Repetitive BehavioursRepetitive Behaviours repeating words or actionsrepeating words or actions obsessively following routinesobsessively following routines

Causes of AutismCauses of Autism

GeneticGenetic 12 or more genes on different chromosomes may be 12 or more genes on different chromosomes may be

involvedinvolved Genes may Genes may

make a person more susceptible to impact of (say) make a person more susceptible to impact of (say) infectioninfection

directly cause specific symptomsdirectly cause specific symptoms determine severity of symptomsdetermine severity of symptoms

Likely Chromosomes and GenesLikely Chromosomes and Genes Chromosome 2Chromosome 2 Chromosome 7Chromosome 7 Chromosome 13Chromosome 13 Chromosome 15Chromosome 15 Chromosome 16Chromosome 16 Chromosome 17Chromosome 17 The X ChromosomeThe X Chromosome HOXA1HOXA1 HOXD1HOXD1 Gamma-amino-butyric acid (GABA) pathway genesGamma-amino-butyric acid (GABA) pathway genes consensus that it is Polygenetic (>10)consensus that it is Polygenetic (>10)

Other CausesOther Causes

24% of cases overlap other genetic medical 24% of cases overlap other genetic medical disordersdisorders Fragile X SyndromeFragile X Syndrome Tuberous Sclerosis, Phenylketonuria (PKU)Tuberous Sclerosis, Phenylketonuria (PKU) Rett SyndromeRett Syndrome

Other possible causesOther possible causes in utero rubellain utero rubella encephalopathyencephalopathy cytomegaloviruscytomegalovirus

Diagnostic CriteriaDiagnostic Criteria

6 items; at least 2 from (1), 1 each from (2) & (3)6 items; at least 2 from (1), 1 each from (2) & (3)

(1) Qualitative impairment in social interaction, as manifested (1) Qualitative impairment in social interaction, as manifested by at least two of the following:by at least two of the following:

Marked impairment in the use of multiple non verbal Marked impairment in the use of multiple non verbal behaviors such as eye- to- eye gaze, facial expression, body behaviors such as eye- to- eye gaze, facial expression, body postures, and gestures to regulate social interaction.postures, and gestures to regulate social interaction.

Failure to develop peer relationships appropriate to Failure to develop peer relationships appropriate to developmental leveldevelopmental level

A lack of spontaneous seeking to share enjoyment, interests, A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest)bringing, or pointing out objects of interest)

Lack of social or emotional reciprocityLack of social or emotional reciprocity

Diagnostic Criteria (2)Diagnostic Criteria (2)

Qualitative impairments in communication as Qualitative impairments in communication as manifested by at least one of the following:manifested by at least one of the following:

Delay in, or total lack of, the development of spoken language Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)alternative modes of communication such as gesture or mime)

In individuals with adequate speech, marked impairment in the In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.ability to initiate or sustain a conversation with others.

Stereotyped and repetitive use of language or idiosyncratic Stereotyped and repetitive use of language or idiosyncratic language, or copying of language (Echolalia)language, or copying of language (Echolalia)

Lack of varied, spontaneous make- believe play or social Lack of varied, spontaneous make- believe play or social imitative play appropriate to developmental level.imitative play appropriate to developmental level.

Diagnostic Criteria (3)Diagnostic Criteria (3)

Restricted repetitive and stereotyped patterns of Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at behavior, interests and activities, as manifested by at least two of the following:least two of the following:

Encompassing preoccupation with one or more stereotyped Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in and restricted patterns of interest that is abnormal either in intensity or focus.intensity or focus.

Apparently inflexible adherence to specific, nonfunctional Apparently inflexible adherence to specific, nonfunctional routines or ritualsroutines or rituals

Stereotyped and repetitive motor mannerisms (e.g. hand or Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting or complex whole body movements finger flapping or twisting or complex whole body movements or copying of movements (Echopraxia)or copying of movements (Echopraxia)

Persistent preoccupation with parts of objects.Persistent preoccupation with parts of objects.

Diagnostic CriteriaDiagnostic Criteria

B. Delays or abnormal functioning in at least one of the B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age three years:following areas, with onset prior to age three years:

Social interactionSocial interaction Language as used in social communication orLanguage as used in social communication or Symbolic or imaginative playSymbolic or imaginative play

C. Not better accounted for by Rett disorder or C. Not better accounted for by Rett disorder or childhood disintegrative disorder.childhood disintegrative disorder.

Sensory ChangesSensory Changes

Overly sensitive to touch (may have a tactile Overly sensitive to touch (may have a tactile defensiveness)defensiveness)

Under-responsive to painUnder-responsive to pain Senses may be affected to a lesser or greater Senses may be affected to a lesser or greater

degreedegree No real fear of dangersNo real fear of dangers

PlayPlay

Lack of social interaction in play - which is Lack of social interaction in play - which is more solitarymore solitary

Lack of spontaneous or imaginative playLack of spontaneous or imaginative play Does not imitate others’ actionsDoes not imitate others’ actions Does not initiate pretend gamesDoes not initiate pretend games Sustained odd playSustained odd play

BehavioursBehaviours Overactive or PassiveOveractive or Passive Temper tantrums for no apparent reasonTemper tantrums for no apparent reason May perseverate on a single item, idea, personMay perseverate on a single item, idea, person Apparent lack of common senseApparent lack of common sense May show aggression or violent behavioursMay show aggression or violent behaviours May injure themselves deliberately for no apparent reasonMay injure themselves deliberately for no apparent reason May spin objects, line things up, organizeMay spin objects, line things up, organize Inappropriate attachment to objectsInappropriate attachment to objects Unresponsive to normal teaching methodsUnresponsive to normal teaching methods Insistence on sameness; resists change in routineInsistence on sameness; resists change in routine Uneven gross/fine motor skills (may not can kick ball but can Uneven gross/fine motor skills (may not can kick ball but can

stack chairs)stack chairs)

Absolute Indications For ASD Absolute Indications For ASD AssessmentAssessment

No babbling, or pointing, or other gestures by No babbling, or pointing, or other gestures by 12 months12 months

No single words by 16monthsNo single words by 16months No 2-word spontaneous phrases by 24 monthsNo 2-word spontaneous phrases by 24 months

any loss of any languageany loss of any language any loss of social skills at any ageany loss of social skills at any age

Specific Screen for AutismSpecific Screen for Autism

Full audiological assessment, lead screen if Full audiological assessment, lead screen if pica presentpica present

CHAT, MCHATCHAT, MCHAT Autism Screening QAutism Screening Q Australian Scale for Asperger’s SyndromeAustralian Scale for Asperger’s Syndrome

then refer for intervention and autism specific then refer for intervention and autism specific assessmentassessment

Specific Autism evaluationSpecific Autism evaluationDiagnostic Parental InterviewsDiagnostic Parental Interviews

Gilliam Autism Rating Scale (GARS)Gilliam Autism Rating Scale (GARS) Parent Interview for AutismParent Interview for Autism The Pervasive Developmental Disorders The Pervasive Developmental Disorders

Screening Test ( PDDST)Screening Test ( PDDST) Autism Diagnostic Interview- Revised (ADI-Autism Diagnostic Interview- Revised (ADI-

R)R)

Diagnostic Observation Diagnostic Observation InstrumentsInstruments

The Childhood Autism Rating Scale (CARS)The Childhood Autism Rating Scale (CARS)

The Autism Diagnostic Observation Schedule The Autism Diagnostic Observation Schedule (ADOS)(ADOS)

InterventionIntervention

There is no cure for autism.There is no cure for autism. Treatment and education approaches may Treatment and education approaches may

reduce some challenges associated with the reduce some challenges associated with the disability.disability.

Intervention may lessen disruptive behaviours.Intervention may lessen disruptive behaviours. Education can teach self-help skills for greater Education can teach self-help skills for greater

independence.independence. Intervention needs to be tailored to the Intervention needs to be tailored to the

individual, and their familyindividual, and their family

Behaviour TherapyBehaviour Therapy

Most widely used and successful method is intensive Most widely used and successful method is intensive behavioural intervention (IBI)behavioural intervention (IBI)

““We believe that behavior modification carried out in We believe that behavior modification carried out in systematic, highly individualized, daily programming systematic, highly individualized, daily programming is the best overall approach now available to persons is the best overall approach now available to persons with autismwith autism” (Graziano, )” (Graziano, )

Team ApproachTeam Approach

Speech therapy Speech therapy Helps in developing communication skills Helps in developing communication skills

which may include alternative forms of which may include alternative forms of communication (sign language and the use of communication (sign language and the use of keyboards)keyboards)

Occupational TherapyOccupational Therapy Addresses specific needs for daily livingAddresses specific needs for daily living

Team ApproachTeam ApproachArt and music therapy can be used to increase Art and music therapy can be used to increase

communication skills, social interaction, and a sense communication skills, social interaction, and a sense of accomplishment.of accomplishment.

Medication may be necessary to control behaviour or Medication may be necessary to control behaviour or sleepsleep

Dietary assessment is important - a balanced diet as far Dietary assessment is important - a balanced diet as far as possible but with extra vitamins and/or minerals. as possible but with extra vitamins and/or minerals. people with autism are more susceptible to allergies and food sensitivities than the average person. The most common food sensitivity in children with autism is to gluten and casein.

Autism Spectrum DisorderAutism Spectrum DisorderMay have to consider:May have to consider: AutismAutism Asperger’s Syndrome (AS)Asperger’s Syndrome (AS) Tourette’s Syndrome (TS)Tourette’s Syndrome (TS) Landau Kleffner’s Syndrome (LKS)Landau Kleffner’s Syndrome (LKS) Rett SyndromeRett Syndrome Attention Deficit/Hyperactivity Disorder (AD/HD)Attention Deficit/Hyperactivity Disorder (AD/HD) Specific Learning Disabilities (SLD)Specific Learning Disabilities (SLD) Childhood Disintegrative Disorder (CDD)Childhood Disintegrative Disorder (CDD) Prader Willi SyndromePrader Willi Syndrome Fragile-X SyndromeFragile-X Syndrome PKUPKU Hurler’s SyndromeHurler’s Syndrome Cornelia de Lange SyndromeCornelia de Lange Syndrome William’s SyndromeWilliam’s Syndrome

Asperger’s SyndromeAsperger’s Syndrome

Original report:Original report:

““Autistic Psychopathies in Childhood” (1944)Autistic Psychopathies in Childhood” (1944)

translated into English in 1980translated into English in 1980

Asperger’s ObservationsAsperger’s Observations

ChildrenChildren Find it difficult to ‘fit in’ sociallyFind it difficult to ‘fit in’ socially Have poor social use of languageHave poor social use of language Have limited ability to use and understand Have limited ability to use and understand

gestures and facial expressionsgestures and facial expressions Use repetitive, stereotypical behaviorsUse repetitive, stereotypical behaviors Have abnormal fixations on certain objects/ Have abnormal fixations on certain objects/

areas of interestareas of interest Are vulnerable to teasing and bullyingAre vulnerable to teasing and bullying

Asperger’s SyndromeAsperger’s Syndrome

A pervasive developmental disorder characterized by:A pervasive developmental disorder characterized by: Impairment of two-way social interaction and Impairment of two-way social interaction and

general social ineptitudegeneral social ineptitude Speech which is odd/pendantic, stereotyped in Speech which is odd/pendantic, stereotyped in

content, but which is not delayedcontent, but which is not delayed Adherence to rules, routines, ritualsAdherence to rules, routines, rituals Lack of social reciprocityLack of social reciprocity Limited non-verbal communication skills – little Limited non-verbal communication skills – little

face expression or gesturesface expression or gesturesGenerally equated with high functioning autism. Generally equated with high functioning autism.

Distinctions between Asperger’s Distinctions between Asperger’s Syndrome and AutismSyndrome and Autism

Children with autism exhibit a significant Children with autism exhibit a significant delay in language skillsdelay in language skills

Children with Asperger’s have only mild Children with Asperger’s have only mild impairments or peculiar ways of using impairments or peculiar ways of using languagelanguage

Diagnostic Features of Diagnostic Features of Asperger’sAsperger’s

Social InteractionsSocial Interactions Socially aloof, unconcernedSocially aloof, unconcerned Inappropriate eye contact (but usually present)Inappropriate eye contact (but usually present) Peer friendships occur, but may lack strategies to develop Peer friendships occur, but may lack strategies to develop

or maintainor maintain Difficulty taking the perspective of another personDifficulty taking the perspective of another person May often lack empathyMay often lack empathy Blatantly honest or straight-forward even when not in Blatantly honest or straight-forward even when not in

their best interesttheir best interest Tense and distressed when trying to copeTense and distressed when trying to cope

Social CommunicationSocial Communication Superficially perfect spoken languageSuperficially perfect spoken language May lack voice expression, difficulty interpreting different May lack voice expression, difficulty interpreting different

tones of voicetones of voice Difficulty interpreting and using non-verbal communication, Difficulty interpreting and using non-verbal communication,

body language, gestures, facial expressionsbody language, gestures, facial expressions May take things in a very literal wayMay take things in a very literal way May fail to grasp implied meanings of languageMay fail to grasp implied meanings of language May not easily grasp social rules or subtletiesMay not easily grasp social rules or subtleties May talk at length about topics that are of interest to only May talk at length about topics that are of interest to only

him/herselfhim/herself Uses objects in an atypical fashionUses objects in an atypical fashion Insists that others do things according to their own prescribed Insists that others do things according to their own prescribed

order and rulesorder and rules

Poor Problem Solving and Poor Problem Solving and Organizational SkillsOrganizational Skills

Difficulties in…Difficulties in… Situations requiring “common sense”Situations requiring “common sense” organizing thoughts and abstract reasoningorganizing thoughts and abstract reasoning Transitioning from one situation to anotherTransitioning from one situation to another

Deficits in… Deficits in… mental planningmental planning Impulse controlImpulse control Self monitoringSelf monitoring

Strong desire for orderliness may delay achieving Strong desire for orderliness may delay achieving goalsgoals

Limited Interests and Limited Interests and PreoccupationsPreoccupations

May talk at length about topics that are of May talk at length about topics that are of interest to only him/herselfinterest to only him/herself

Redirects conversations back to topics of Redirects conversations back to topics of interest even at risk of being ridiculed or interest even at risk of being ridiculed or shunnedshunned

Friends interested in similar thingsFriends interested in similar things Jobs in areas of interestsJobs in areas of interests

Pragmatic DisorderPragmatic Disorder Lack of understanding about the reciprocity of Lack of understanding about the reciprocity of

verbal and nonverbal communicationverbal and nonverbal communication Decreased understanding and use of gesturesDecreased understanding and use of gestures Decreased use of questionsDecreased use of questions Difficulty maintaining a conversationDifficulty maintaining a conversation

TestsTests

Test of Pragmatic LanguageTest of Pragmatic Language Test of Problem SolvingTest of Problem Solving

Effective Strategies to Teach Effective Strategies to Teach Pragmatic LanguagePragmatic Language

Social Language GroupsSocial Language Groups Social Language StoriesSocial Language Stories Reciprocal Conversation with TherapistReciprocal Conversation with Therapist Role PlayingRole Playing VideotapingVideotaping Coaching During Social TimesCoaching During Social Times

Language DisorderLanguage Disorder

Sometimes language learning is precociousSometimes language learning is precocious There must be words by 2 years and phrases by 3 There must be words by 2 years and phrases by 3

yearsyears Style of learning language may be like an autistic Style of learning language may be like an autistic

child: echolalia, difficulty learning pronouns, child: echolalia, difficulty learning pronouns, difficulty understanding verbal explanations difficulty understanding verbal explanations

TestsTests

Preschool Language Scale-4Preschool Language Scale-4 Clinical Evaluation of LanguageClinical Evaluation of Language The Test of Language DevelopmentThe Test of Language Development Expressive One Word Vocabulary TestExpressive One Word Vocabulary Test Peabody Picture Vocabulary TestPeabody Picture Vocabulary Test

Language Test Scores Language Test Scores Show an Unusual ProfileShow an Unusual Profile

Highest scores are in expressive vocabulary, Highest scores are in expressive vocabulary, Next highest are in receptive vocabulary,Next highest are in receptive vocabulary, Next are in grammatical structures,Next are in grammatical structures, Often below average are tests of problem solving,Often below average are tests of problem solving, Lowest area is in pragmatic language skills.Lowest area is in pragmatic language skills.

Teach FlexibilityTeach FlexibilityCOMPROMISINGCOMPROMISING

If you compromise, you are doing the right If you compromise, you are doing the right thing.thing.

Compromise means letting the other person Compromise means letting the other person have his way.have his way.

If you do this, you get a bonus point.If you do this, you get a bonus point.

Teach FlexibilityTeach FlexibilityBEING BOSSYBEING BOSSY

Often turn other children off by being bossy, Often turn other children off by being bossy, controlling and judgmental.controlling and judgmental.

So, they lose a point (or a turn) for teasing So, they lose a point (or a turn) for teasing criticizing another child.criticizing another child.

Alternately, they get extra points for saying Alternately, they get extra points for saying something nice.something nice.

If the child starts out saying several nice things, If the child starts out saying several nice things, he is not teased as much.he is not teased as much.

ResourcesResources

www.ocali.orgwww.ocali.org www.autism-society.orgwww.autism-society.org