Autism and Asperger’s Syndrome Workshop Malta October 2012 Professor Michael Fitzgerald.

Autism and Asperger’s SyndromeAutism and Asperger’s Syndrome

Workshop MaltaWorkshop Malta October 2012October 2012

Professor Michael FitzgeraldProfessor Michael Fitzgerald

Why Make a Diagnosis?Why Make a Diagnosis?why Tell Parents?why Tell Parents?

Clarity is better than confusion.Clarity is better than confusion.

Parents can stop blaming themselves.Parents can stop blaming themselves.

Parents can understand their child’s needs.Parents can understand their child’s needs.

Diagnosis gives access to information and services.Diagnosis gives access to information and services.

Parents can work for more and better services.Parents can work for more and better services.

Parents can help each other.Parents can help each other.

Knowledge is power for parents.Knowledge is power for parents.

Why Refuse to Label?Why Refuse to Label?

Anti-labelling can be a cover for ignorance.Anti-labelling can be a cover for ignorance.

Anti-labelling avoids the distressing discussion of real Anti-labelling avoids the distressing discussion of real disabilities.disabilities.

Anti-labelling helps avoid the hard work in assessing the Anti-labelling helps avoid the hard work in assessing the child’s real needs and finding services.child’s real needs and finding services.

Anti-labelling is the cheap option.Anti-labelling is the cheap option.

Secrecy is power for professionals.Secrecy is power for professionals.

Autism Is:Autism Is:

1.1. A developmental disorder – biological or organic defect in A developmental disorder – biological or organic defect in function of brain.function of brain.

2.2. More likely in boys than girls.More likely in boys than girls.

3.3. Associated with learning difficulties approx. half.Associated with learning difficulties approx. half.

4.4. Associated with known organic causes e.g. maternal rubella, Associated with known organic causes e.g. maternal rubella, encephalitis, infantile spasms, tubersclerosis.encephalitis, infantile spasms, tubersclerosis.


5.5. Associated with epilepsy 1 in 3 by adolescence.Associated with epilepsy 1 in 3 by adolescence.

6.6. Genetically linked – increased rate in sibs.Genetically linked – increased rate in sibs.

7.7. A life-long handicap. Two thirds do not become A life-long handicap. Two thirds do not become independent in adult life.independent in adult life.


8.8. More common than thought. Kanner’s 1 in 2,000. Total More common than thought. Kanner’s 1 in 2,000. Total spectrum 1 in 200.spectrum 1 in 200.

9.9. Associated with unusual responses to sensory stimuli.Associated with unusual responses to sensory stimuli.

10.10. Associated with peculiarities of motor co-ordination.Associated with peculiarities of motor co-ordination.

The CHAT: Screening Instrument at 18 The CHAT: Screening Instrument at 18

monthsmonths

1.1. Does your child ever pretend for example to make a cup of Does your child ever pretend for example to make a cup of tea using a toy cup and teapot or pretend other things.tea using a toy cup and teapot or pretend other things.

2.2. Does your child ever use his / her finger to point to indicate Does your child ever use his / her finger to point to indicate an interest in something.an interest in something.

3.3. Does your child ever bring over to you an object to show Does your child ever bring over to you an object to show you something.you something.

4.4. Protodeclarative pointing does your child catch your eye Protodeclarative pointing does your child catch your eye and point out something of interest.and point out something of interest.

Pervasive Developmental DisordersPervasive Developmental Disorders

299.00 299.00 Autistic Disorder.Autistic Disorder.

A.A. A total of six (or more) items from (1), (2), and (3), with at A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):least two from (1), and one each from (2) and (3):

(1)(1) Qualitative impairment in social interaction, as Qualitative impairment in social interaction, as

manifested by amanifested by at t least two of the following:least two of the following:

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

Pervasive Developmental DisordersPervasive Developmental Disorders

b)b) Failure to develop peer relationships appropriate to Failure to develop peer relationships appropriate to developmental level.developmental level.

c)c) 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 a lack of or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest).showing, bringing, or pointing out objects of interest).

d)d) Lack of social or emotional reciprocityLack of social or emotional reciprocity..

Lack of Lack of SSocial or ocial or EEmotional motional RReciprocityeciprocity

(2) (2) Qualitative impairments in communication as Qualitative impairments in communication as manifested by atmanifested by at least one of the following:least one of the following:

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

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

c)c) Stereotyped and repetitive use of language or idiosyncratic Stereotyped and repetitive use of language or idiosyncratic language.language.

d)d) 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.


(3) (3) Restricted repetitive and stereotyped patterns of Restricted repetitive and stereotyped patterns of behaviour, interests, and activities, as manifested by at behaviour, interests, and activities, as manifested by at least one of the following:least one of the following:

a)a) 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.

b)b) Apparently inflexible adherence to specific, nonfunctional Apparently inflexible adherence to specific, nonfunctional routines or rituals.routines or rituals.

c)c) 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 finger flapping or twisting, or complex whole-body movements).movements).

d)d) Persistent preoccupation with parts of objects.Persistent preoccupation with parts of objects.


B.B. Delays or abnormal functioning in at least one of the Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.or (3) symbolic or imaginative play.

C.C. The disturbance is not better accounted for by Rett's The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.Disorder or Childhood Disintegrative Disorder.

Concepts of AutismConcepts of Autism 1.1. Kanner's CriteriaKanner's Criteria

** Profound lack of affective contact.Profound lack of affective contact.

Mute, or language not used to communicate ideas and Mute, or language not used to communicate ideas and feelings.feelings.

Fascination with objects, manipulated with dexterityFascination with objects, manipulated with dexterity but but

not for not for appropriate use.appropriate use.

** Resistance to change in repetitive routines.Resistance to change in repetitive routines.

Islets of ability, visuo-spatial and/or memory.Islets of ability, visuo-spatial and/or memory.

Attractive, intelligent appearanceAttractive, intelligent appearance..

Concepts of AutismConcepts of Autism

2.2. Asperger's CriteriaAsperger's Criteria

Socially odd, naive, inappropriate.Socially odd, naive, inappropriate.

Speech long-winded, repetitive, literal, not conversational.Speech long-winded, repetitive, literal, not conversational.

Poor non-verbal communication.Poor non-verbal communication.

Circumscribed interests.Circumscribed interests.

Poor motor co-ordination and odd gait and posture.Poor motor co-ordination and odd gait and posture.

Lack of common sense.Lack of common sense.


3.3. Triad of ImpairmentsTriad of Impairments

Affecting:Affecting:

Social interaction.Social interaction.

Communication.Communication.

Imagination.Imagination.

Associated with:Associated with:

Rigid, repetitive pattern of behaviour.Rigid, repetitive pattern of behaviour.


4.4. Social ImpairmentSocial Impairment

Different manifestations:Different manifestations:

** Aloof, indifferent.Aloof, indifferent.

Passive.Passive.

## Active but odd, bizarre.Active but odd, bizarre.

## Over-formal, stilted.Over-formal, stilted.

(* Kanner(* Kanner # Asperger)# Asperger)


5.5. Communication ImpairmentCommunication Impairment


** No communication.No communication.

** Communicates own needs.Communicates own needs.

## Repetitive, one sided.Repetitive, one sided.

## Formal, long-winded, literal.Formal, long-winded, literal.



6.6. Imagination ImpairmentImagination Impairment


** Handles objects for simple sensations.Handles objects for simple sensations.

** Handles objects for practical uses.Handles objects for practical uses.

Copies pretend play of others.Copies pretend play of others.

Limited 'pretend' play; repetitive, isolated.Limited 'pretend' play; repetitive, isolated.

## Invents own imaginary world - but rigid, stereotypedInvents own imaginary world - but rigid, stereotyped



7.7. Repetitive ActivitiesRepetitive Activities

Simple self-directed:Simple self-directed:

** Complex movements.Complex movements. ** Routines involving objects.Routines involving objects. ** Routines in space or time.Routines in space or time.

## Verbal routines.Verbal routines. ## Routines related to special skills.Routines related to special skills. ## 'Intellectual' interests.'Intellectual' interests.



8.8. Commonly Associated FeaturesCommonly Associated Features

Abnormalities of:Abnormalities of:

Language (grammar, semantics).Language (grammar, semantics).

Responses to sensory stimuli.Responses to sensory stimuli.

Posture and movement.Posture and movement.

Sleeping, eating, drinking.Sleeping, eating, drinking.

Mood.Mood.

Attention.Attention.

Level of activity.Level of activity.


9.9. Associated ConditionsAssociated Conditions

Other developmental disorders:Other developmental disorders:

**** Mental retardationMental retardation

DysphasiaDysphasia -- receptivereceptive-- expressive.expressive.

Dyslexia.Dyslexia.

Dyspraxia.Dyspraxia. Dyscalculia.Dyscalculia. Visuo-spatial difficulties.Visuo-spatial difficulties.



Physical disabilities:Physical disabilities:

**** EpilepsyEpilepsy

Hearing impairment.Hearing impairment.

Visual impairment.Visual impairment.

Cerebral palsy.Cerebral palsy.

Other - any type is possible.Other - any type is possible.



Psychiatric disorders:Psychiatric disorders:

**** AnxietyAnxiety

Affective disorders.Affective disorders. Obsessive - compulsive disorder.Obsessive - compulsive disorder. Catatonia.Catatonia. 'Psychotic' reactions.'Psychotic' reactions.

(Schizophrenia?) - They say they hear voices but L. (Schizophrenia?) - They say they hear voices but L. Wing items not typical symptom.Wing items not typical symptom.


12.12. Behaviour DisturbanceBehaviour Disturbance

Mainly due to:Mainly due to:

Lack of understanding of social rules.Lack of understanding of social rules.

Confusion and fear of unexpected events.Confusion and fear of unexpected events.

Interference with repetitive activities.Interference with repetitive activities.

Inappropriate attempts to control environment.Inappropriate attempts to control environment.


13.13. Behaviour Disturbance:Behaviour Disturbance:

Examples:Examples:

Aggression.Aggression.

Destructiveness.Destructiveness.

Screaming.Screaming.

Running away.Running away.

Self injury.Self injury.

Socially unacceptable habits.Socially unacceptable habits.Criminal behaviour.Criminal behaviour.


14.14. Factors Affecting the Clinical PictureFactors Affecting the Clinical Picture

The way the triad is manifested.The way the triad is manifested. The severity of the impairments.The severity of the impairments. The overall level of ability.The overall level of ability. The pattern on skills and disabilities.The pattern on skills and disabilities. Age.Age. Gender.Gender. Personality and temperament.Personality and temperament. Any associated physical or psychiatric features.Any associated physical or psychiatric features. Education.Education. Environment.Environment.

Other BehavioursOther Behaviours

Fears or phobias.Fears or phobias. Sleeping or eating disturbances.Sleeping or eating disturbances. Temper tantrums and aggression.Temper tantrums and aggression. Self-injury (especially with severe mental retardation).Self-injury (especially with severe mental retardation). Lack of spontaneity, initiative and creativity.Lack of spontaneity, initiative and creativity. 70% Learning disabled70% Learning disabled

(70% IQ <70(70% IQ <70 90% IQ <9090% IQ <90 99% IQ <99)99% IQ <99)

30% Epilepsy. Onset typical in adolescence. Related to the 30% Epilepsy. Onset typical in adolescence. Related to the degree of learning disability, with the more severe being more degree of learning disability, with the more severe being more commonly affected.commonly affected.

Differential DiagnosisDifferential Diagnosis

1.1. Deafness.Deafness.

2.2. Blindness.Blindness.

3.3. Emotional deprivation.Emotional deprivation.

4.4. Disintegrative disorder. Normal till two years and then Disintegrative disorder. Normal till two years and then regresses behaviourally, bladder and shows social regresses behaviourally, bladder and shows social withdrawal, motor regression. Aetiology unknown usually. withdrawal, motor regression. Aetiology unknown usually. Can be associated with measles leukodystrophy.Can be associated with measles leukodystrophy.

5.5. Elective mutism - selective mutism.Elective mutism - selective mutism.

Differential DiagnosisDifferential Diagnosis

6.6. Retts - girls - 1st year o.k. Then deceleration of head Retts - girls - 1st year o.k. Then deceleration of head growth, loss of purposive hand skills, and verbal growth, loss of purposive hand skills, and verbal communication, stereotypical hand wringing, ataxic gait.communication, stereotypical hand wringing, ataxic gait.

(Not autistic spectrum)(Not autistic spectrum)

7.7. Mental retardation.Mental retardation.

8.8. DAMPDAMP

AttentionAttention

Motor controlMotor control

PerceptionPerception

(Gillberg put into Autism Spectrum)(Gillberg put into Autism Spectrum)

Simple SchizophreniaSimple Schizophrenia (Kolb, 1968) (Kolb, 1968)

a)a) Disturbance of emotionDisturbance of emotion

b)b) Disturbance of interest.Disturbance of interest.

c)c) Disturbance of activity.Disturbance of activity.

d)d) Impoverishment of personality.Impoverishment of personality.

e)e) Shallowness of emotions.Shallowness of emotions.

f)f) Eccentricities.Eccentricities.

Semantic Pragmatic DisorderSemantic Pragmatic Disorder

a)a) Comprehension problems.Comprehension problems.

b)b) Echolalia.Echolalia.

c)c) Verbal conceptual deficit.Verbal conceptual deficit.

d)d) Inability to use gestures.Inability to use gestures.

e)e) Often poverty of symbolic playOften poverty of symbolic play..

DyspraxiaDyspraxia

Motor dyspraxia.Motor dyspraxia.

Often oral dyspraxia (speech delay).Often oral dyspraxia (speech delay).

Not able to hop or jump.Not able to hop or jump.

Distractible.Distractible.

Finds it hard to keep friends or judge how to behave in Finds it hard to keep friends or judge how to behave in company.company.

Poorly organised.Poorly organised.

Evidence for a Spectrum (Wing and Gould)Evidence for a Spectrum (Wing and Gould) One person can show different clinical pictures in different environmentsOne person can show different clinical pictures in different environments..

One person can show different clinical pictures at different agesOne person can show different clinical pictures at different ages..

Members of the same family who have the triad can show different Members of the same family who have the triad can show different clinical clinical

ppicturesictures..

Identical twins or triplets with the triad can show different clinical Identical twins or triplets with the triad can show different clinical picturespictures..

The same physical causes can give different clinical pictures in different The same physical causes can give different clinical pictures in different

ppeopleeople..

Linkage ResultsLinkage Results

Two major genome scans have recently been published.Two major genome scans have recently been published.

IMGSAC found evidence 7q markers especially in a UK IMGSAC found evidence 7q markers especially in a UK subsample (56 families); other regions of interest included subsample (56 families); other regions of interest included 16p.16p.

PARISS found areas of interest in 11 regions, several of which, PARISS found areas of interest in 11 regions, several of which, including 7q were similar to positive evidence from IMGSAC.including 7q were similar to positive evidence from IMGSAC.

AutismAutism

ICD10ICD10 144144

Kanner’s 5 CriteriaKanner’s 5 Criteria 24 24

Kanner’s 2 criteriaKanner’s 2 criteria 220220

DSM-III-RDSM-III-R 256256

Twin Studies in AutismTwin Studies in Autism Folstein & Rutter, 1977:Folstein & Rutter, 1977:

-- MZ twin concordance for autism:MZ twin concordance for autism: 36%36% (4/11)(4/11)

-- DZ same sex twin concordance:DZ same sex twin concordance: 0% 0% (0/10)(0/10)

Steffenburg, Gillberg, Hellgren et al., 1989Steffenburg, Gillberg, Hellgren et al., 1989



Twin Studies in AutismTwin Studies in Autism

Bailey, LeCouteur, Gottesman et al., 1995 *Bailey, LeCouteur, Gottesman et al., 1995 *



* (in non-overlapping sample from* (in non-overlapping sample from

Folstein & Rutter, 1977)Folstein & Rutter, 1977)

Family Studies of AutismFamily Studies of Autism Sibling risk is about Sibling risk is about 2.7%.2.7%.

Relative risk between Relative risk between 25 to 25 to 70 (given a rate of autism 70 (given a rate of autism from 4-10 per 10,000 in the general population).from 4-10 per 10,000 in the general population).

““Stoppage rules” reduce the observed rate.Stoppage rules” reduce the observed rate.

Ritvo et al. (1989) estimate true recurrence risk to be 8.6% Ritvo et al. (1989) estimate true recurrence risk to be 8.6% and the relative risk to be 215 (using the 4 in 10,000 pop. and the relative risk to be 215 (using the 4 in 10,000 pop. Prev.; RR = 86 using 10 in 10,000).Prev.; RR = 86 using 10 in 10,000).

HeterogeneityHeterogeneity

Casual HeterogeneityCasual Heterogeneity

Two or more causes can lead Two or more causes can lead to to

The same clinical conditionThe same clinical condition

- Multiple Multiple genotypesgenotypes may may have have

a single a single phenotypephenotype..

Clinical HeterogeneityClinical Heterogeneity

The same cause can lead to The same cause can lead to two or two or

more clinical conditionsmore clinical conditions

-- A single A single genotypegenotype may have may have multiple multiple phenotypesphenotypes..

Problems for Linkage Studies of AutismProblems for Linkage Studies of Autism

Definition of the PhenotypeDefinition of the Phenotype..

Diagnostic Accuracy.Diagnostic Accuracy.

No straightforward mendelian inheritance suggests a No straightforward mendelian inheritance suggests a genetically complex disease.genetically complex disease.

Heterogeneity.Heterogeneity.

Twin StudiesTwin Studies

Concordance Concordance Agreement in diagnostic classification Agreement in diagnostic classification

Implicating Genetic FactorsImplicating Genetic Factors

MZ (Identical) twins (100% genes shared)MZ (Identical) twins (100% genes shared)

vv

DZ (Fraternal) twins (50% genes shared)DZ (Fraternal) twins (50% genes shared)

A High Relative Risk Does Not Necessarily A High Relative Risk Does Not Necessarily

Indicate Genes with Highly Potent EffectsIndicate Genes with Highly Potent Effects

Even a very high relative risk may represent the additive or Even a very high relative risk may represent the additive or multiplicative multiplicative

effects of several or many different genes rather than the strong effects of several or many different genes rather than the strong effect effect of of

any one gene.any one gene.

Seaver Centre Genetic Linkage StudySeaver Centre Genetic Linkage Study Seaver Centre has recently completed a genome scan in our Seaver Centre has recently completed a genome scan in our

first 70 multiplex families and has also found positive evidence first 70 multiplex families and has also found positive evidence for linkage at 7q and several other sites, several of which for linkage at 7q and several other sites, several of which overlap with the IMGSAC and PARISS groups.overlap with the IMGSAC and PARISS groups.

Family Studies and Core AutismFamily Studies and Core Autism

Though they do not directly identify genetic factors, family Though they do not directly identify genetic factors, family studies indicate studies indicate

a very powerful familial, likely genetic, component in autism.a very powerful familial, likely genetic, component in autism.

Theory of MindTheory of Mind

1.1. First Order Beliefs:First Order Beliefs:

- 3/4 years normally - casual behavioural thinking e.g. - 3/4 years normally - casual behavioural thinking e.g.

knowing that John knows something because he hasknowing that John knows something because he has observed it happening.observed it happening.

2.2. Second Order Beliefs:Second Order Beliefs:

- 6 years - mentalistic - child able to think about thinkin- 6 years - mentalistic - child able to think about thinking g e.g. e.g.

Michael thinks that Sophie thinks that he is angry with her.Michael thinks that Sophie thinks that he is angry with her.

AutismAutism

Intersubjectivity (Normal)Intersubjectivity (Normal)

1.1. Innate intersubjectivity is wired into infants brains.Innate intersubjectivity is wired into infants brains.

2.2. Non-verbal intersubjectivity:Non-verbal intersubjectivity:

a)a) Turn-taking.Turn-taking.

b)b) Joint attention.Joint attention.

c)c) Social referencing.Social referencing.

AutismAutism

1.1. Problems disengagement from task.Problems disengagement from task.

2.2. Problems attention shifting.Problems attention shifting.

ImitationImitation

1.1. Imitation leads to the growth of intersubjectivity.Imitation leads to the growth of intersubjectivity.

2.2. Early imitation is non-reflexive, volitional and intentional.Early imitation is non-reflexive, volitional and intentional.

3.3. Neonatal imitation involves concrete kinds of shared Neonatal imitation involves concrete kinds of shared experience between two partners.experience between two partners.

4.4. Children increase intersubjective understanding through Children increase intersubjective understanding through mental simulation (not through developing theories like mental simulation (not through developing theories like scientists Theory of Mind).scientists Theory of Mind).

Autism (Hobson)Autism (Hobson)

1.1. Impairment in the innate capacity to interact emotionally Impairment in the innate capacity to interact emotionally with others (socio-emotional).with others (socio-emotional).

2.2. Not Theory of Mind (social-cognitive) but children develop Not Theory of Mind (social-cognitive) but children develop their understanding of other persons through their capacity their understanding of other persons through their capacity for social relatedness.for social relatedness.

3.3. Possible that the social-emotional is the key at the Possible that the social-emotional is the key at the beginning of life and set up the later developing Theory of beginning of life and set up the later developing Theory of Mind (maybe emotional factors are more important in early Mind (maybe emotional factors are more important in early life and thinking (Theory of Mind) later childhood, but joint life and thinking (Theory of Mind) later childhood, but joint attention has an emotional component).attention has an emotional component).

4.4. Note feedback brain Note feedback brain →→ social.social.

Autism / Asperger’s syndrome Social Autism / Asperger’s syndrome Social

ReferencingReferencing

Social referencing is well developed in the first year and indeed Social referencing is well developed in the first year and indeed usually usually

starts about six months of age and provides an important avenue starts about six months of age and provides an important avenue to truly to truly

empathic responding in the second year.empathic responding in the second year.

Normal Child Development (Viktoria Lyons)Normal Child Development (Viktoria Lyons)

Regarding your question on normal child development (quoted in Prior’s Regarding your question on normal child development (quoted in Prior’s

abstract from the Autism Conference in London, November 1998), I abstract from the Autism Conference in London, November 1998), I

believe that the emergence of some of the communicative actions she is believe that the emergence of some of the communicative actions she is

stating is a bit too early, although developmental theorists tend to differ stating is a bit too early, although developmental theorists tend to differ

on these issues. There is also a difference between the emergence of a on these issues. There is also a difference between the emergence of a

certain skill and the time this behaviour is well established. The following certain skill and the time this behaviour is well established. The following

times are generally quoted:times are generally quoted:

1.1. Joint attention behaviours:Joint attention behaviours: 12 months. 12 months.

2.2. Proto-imperative pointing:Proto-imperative pointing: 12 months. 12 months.

3.3. Proto-declarative pointing:Proto-declarative pointing: 12 months. 12 months.

4.4. Pretend play and imagination:Pretend play and imagination: 18 months. 18 months.

Normal Child Development (Viktoria Lyons)Normal Child Development (Viktoria Lyons)

By age two years a child should have a sound knowledge of By age two years a child should have a sound knowledge of objects, people, and events in the environment, is capable of objects, people, and events in the environment, is capable of mental problem solving, imitation, symbolic play and mental problem solving, imitation, symbolic play and communication via gestures and language. The child also communication via gestures and language. The child also should have a basic concept of ‘self’, be able to express a should have a basic concept of ‘self’, be able to express a complex range of emotions and understand and sympathise complex range of emotions and understand and sympathise with the emotional expressions of others.with the emotional expressions of others.

5.5. Theory of mind (1Theory of mind (1stst order false belief): order false belief): 3 – 4 years.3 – 4 years.

6.6. Knowledge that beliefs can affect emotions (e.g. if you think Knowledge that beliefs can affect emotions (e.g. if you think you are getting what you want, you will feel happy):you are getting what you want, you will feel happy): 4 – 6 4 – 6 years.years.

7.7. Theory of mind task 2Theory of mind task 2ndnd order (e.g. John thinks that Mary thinks order (e.g. John thinks that Mary thinks X = belief about belief):X = belief about belief): 6 – 7 years.6 – 7 years.

1½ Years1½ Years

1.1. Empathy Empathy ↑↑..

2.2. Self-consciousness Self-consciousness ↑↑..

3.3. Creative symbolic play.Creative symbolic play.

1½ Years1½ Years

1.1. Reflective self-awareness and understanding of persons Reflective self-awareness and understanding of persons with minds.with minds.

2.2. Empathy Empathy ↑↑..

3.3. Self-consciousness Self-consciousness ↑↑..

4.4. Understanding of something about persons with their own Understanding of something about persons with their own subjectively grounded representations of the world (minds subjectively grounded representations of the world (minds of their own).of their own).

End of 2End of 2ndnd Year Year

1.1. Compare Hension and use ‘I’ and ‘You’ ‘My’ and ‘Mine’.Compare Hension and use ‘I’ and ‘You’ ‘My’ and ‘Mine’.

AutismAutism

Fictional AbsorptionFictional Absorption

1.1. We take up the point of view of the central character in a We take up the point of view of the central character in a fiction normally but persons with autism lack empathy and fiction normally but persons with autism lack empathy and may have difficulty identifying with the central character may have difficulty identifying with the central character and therefore do not enjoy fiction.and therefore do not enjoy fiction.

2.2. Fiction requires perspective thinking on the other (the Fiction requires perspective thinking on the other (the central character). This is very difficult for persons with central character). This is very difficult for persons with autism.autism.

AutismAutism


3.3. Fictional books can help persons with autism as they helped Fictional books can help persons with autism as they helped Ludwig Wittgenstein see other people’s perspective. Ludwig Wittgenstein see other people’s perspective. Persons with autism can improve their perspective.Persons with autism can improve their perspective.

4.4. In fiction according to Harris (1998) “events that befall the In fiction according to Harris (1998) “events that befall the make-believe protagonists will be evaluated as if they were make-believe protagonists will be evaluated as if they were really happening”. Persons with autism will have difficulty really happening”. Persons with autism will have difficulty achieving this identification.achieving this identification.

AutismAutism


5.5. Persons with autism have difficulty getting inside the real Persons with autism have difficulty getting inside the real concrete world to allow themselves to be completely concrete world to allow themselves to be completely immersed in a fictional world.immersed in a fictional world.

6.6. How do persons with autism react to horror films?How do persons with autism react to horror films?

AutismAutism


7.7. Persons with autism may not be able to identify with the Persons with autism may not be able to identify with the central character is because of their difficulty with central central character is because of their difficulty with central coherence and with narratives.coherence and with narratives.

8.8. Fictional stories are normally appraised for emotional Fictional stories are normally appraised for emotional significance. This is what persons with autism have significance. This is what persons with autism have difficulty with. Persons with autism are likely to get difficulty with. Persons with autism are likely to get distracted by side issues.distracted by side issues.

AutismAutism

Language (Personal View)Language (Personal View)

1.1. The person with autism’s mental maps of the world are The person with autism’s mental maps of the world are different from non-autism maps – they are from the culture different from non-autism maps – they are from the culture of autism which knows no boundaries.of autism which knows no boundaries.

2.2. The aspects of the auditory, visual and motor information in The aspects of the auditory, visual and motor information in speech that infants perceive and store and which speech that infants perceive and store and which subsequently alters both speech perception and production subsequently alters both speech perception and production is very different from the person without autism.is very different from the person without autism.

AutismAutism

Language (Personal View)Language (Personal View)

3.3. Persons with autism do not capture the regularities of Persons with autism do not capture the regularities of culture and language and are only included in as a member culture and language and are only included in as a member of the autistic society. It is possible that TEACCH of the autistic society. It is possible that TEACCH sometimes increases this.sometimes increases this.

4.4. The linguistic mind maps are more fragmented and lack The linguistic mind maps are more fragmented and lack organisation and coherence as compared to persons without organisation and coherence as compared to persons without autism. This is because they lack a shared perception of autism. This is because they lack a shared perception of the world with the wider community.the world with the wider community.

AutismAutism

1.1. Problems with imitation.Problems with imitation.

2.2. ‘‘Concrete’.Concrete’.

3.3. Problems sharing experiences information.Problems sharing experiences information.

4.4. Problems with emotional expressiveness.Problems with emotional expressiveness.

5.5. Problems with emotion recognition.Problems with emotion recognition.

6.6. Problems with affective responsiveness.Problems with affective responsiveness.

Adolescents - AutismAdolescents - Autism

Persons with autism – computer programmersPersons with autism – computer programmers.. Asperger’s query Physicist or mathematiciansAsperger’s query Physicist or mathematicians..

1.1. Insensitivity to cultural conventions.Insensitivity to cultural conventions.

2.2. Difficulty in understanding complex emotions such as pride Difficulty in understanding complex emotions such as pride or embarrassment.or embarrassment.

3.3. Problem with an internal guide in the area of social Problem with an internal guide in the area of social relations.relations.

4.4. Difficulty in anticipating on their own and others thoughts Difficulty in anticipating on their own and others thoughts and feelings.and feelings.

Adults – AutismAdults – Autism

1.1. Some improve during teenage yearsSome improve during teenage years..

2.2. Others having difficulty with hyperactivity, anger and Others having difficulty with hyperactivity, anger and aggression.aggression.

3.3. Deterioration may be due to psychosocial factors.Deterioration may be due to psychosocial factors.

4.4. Good social network very important.Good social network very important.

5.5. A small percentage live entirely independently.A small percentage live entirely independently.

Right Hemisphere Learning DisabilityRight Hemisphere Learning Disability

1.1. Introversion.Introversion.

2.2. Poor social perception.Poor social perception.

3.3. Inability to display affect.Inability to display affect.

4.4. Impairment in visuospatial representation.Impairment in visuospatial representation.

Right Hemisphere versus Left HemispherRight Hemisphere versus Left Hemisphere e DysfunctionDysfunction

1.1. Persons with autism have left hemisphere dysfunction i.e. Persons with autism have left hemisphere dysfunction i.e. more language problems (?).more language problems (?).

2.2. Persons with Asperger syndrome have right hemisphere Persons with Asperger syndrome have right hemisphere dysfunction as suggested by better verbal abilities and dysfunction as suggested by better verbal abilities and reduced non verbal ability.reduced non verbal ability.

Right Hemisphere versus Left HemispherRight Hemisphere versus Left Hemisphere e DysfunctionDysfunction

3.3. If Asperger syndrome is a right hemisphere dysfunction then If Asperger syndrome is a right hemisphere dysfunction then one would expect:one would expect:

a)a) Verbal I.Q. being higher than performance I.Q.Verbal I.Q. being higher than performance I.Q.

b)b) Good basic language skills i.e. naming ability, verbal fluency, Good basic language skills i.e. naming ability, verbal fluency, and rote memory.and rote memory.

c)c) Problems with language pragmatics.Problems with language pragmatics.

d)d) Deficits in visuospatial functioningDeficits in visuospatial functioning..

““Cure” ModelCure” Model

1.1. Options.Options.

2.2. Mothering centre.Mothering centre.

3.3. Dolphin therapy.Dolphin therapy.

Evaluation of New TherapyEvaluation of New Therapy (By Parents)(By Parents)

Questions parents must ask:Questions parents must ask:

1.1. Proper diagnosis.Proper diagnosis.

2.2. Blind objective evaluation.Blind objective evaluation.

3.3. Matched controlsMatched controls -- I.Q.I.Q.

-- DiagnosisDiagnosis..

-- AgeAge..

-- Severity.Severity.

Evaluation of New TherapyEvaluation of New Therapy (By Parents)(By Parents)

Questions parents must ask:Questions parents must ask:

4.4. Replication.Replication.

5.5. Healthy scepticism.Healthy scepticism.

Care ModelCare Model

1.1. Slow steady progress.Slow steady progress.

2.2. No miracles.No miracles.

““Cure” ModelCure” Model

1.1. ““Miracles”.Miracles”.

2.2. ““Gene therapy”!Gene therapy”!

Treatment of AutismTreatment of Autism

Pharmacotherapy with persons with autismPharmacotherapy with persons with autism::

1.1. Fenfluramine. Fenfluramine.

2.2. Haloperidol. Haloperidol.

3.3. Naloxone and Naltrexone. Naloxone and Naltrexone.

4.4. Clomipramine. Clomipramine.

((Megavitamin therapy - vitamin B6).Megavitamin therapy - vitamin B6).

FenfluramineFenfluramine Effects Serotonin system.Effects Serotonin system.

Open-label studies showed improvement in core symptoms of Open-label studies showed improvement in core symptoms of autism.autism.

Controlled studies showed only mild decrease in withdrawal Controlled studies showed only mild decrease in withdrawal and fidgetiness.and fidgetiness.

Risk of adverse effects outweighs potential treatment benefits.Risk of adverse effects outweighs potential treatment benefits.

Atypical NeurolepticsAtypical Neuroleptics Effect wider range of neurotransmitter systems (Dopamine, Effect wider range of neurotransmitter systems (Dopamine,

Serotonin, etc.).Serotonin, etc.).

Improve overall functioning in other neuropsychiatric Improve overall functioning in other neuropsychiatric disorders.disorders.

Lower incidence of side effects.Lower incidence of side effects.

Decreased severity of side effects.Decreased severity of side effects.

SSRIs in AutismSSRIs in Autism Fluoxetine.Fluoxetine.

Fluvoxamine.Fluvoxamine.

Sertraline.Sertraline.

Paroxetine.Paroxetine.

Citalopram.Citalopram.

HaloperidolHaloperidol Effects dopamine function.Effects dopamine function.

Extensively studied in children with autistic disorder, using Extensively studied in children with autistic disorder, using controlled studies.controlled studies.

Improves orientation of attention, social relatedness.Improves orientation of attention, social relatedness.

Decreases stereotypies, hyperactivity.Decreases stereotypies, hyperactivity.

Multiple adverse effects.Multiple adverse effects.

NaltrexoneNaltrexone Opposes opioid system.Opposes opioid system.

Open studies initially showed decrease in social withdrawal Open studies initially showed decrease in social withdrawal and self-injurious behaviour.and self-injurious behaviour.

Controlled studies were less conclusive, showing only minimal Controlled studies were less conclusive, showing only minimal improvement in these areas.improvement in these areas.

Other MedicationsOther Medications

PropanalolPropanalol::

Used to treat anxiety and aggression.Used to treat anxiety and aggression.

Open-label studies have shown efficacy in treatment of Open-label studies have shown efficacy in treatment of autistic disorders.autistic disorders.

Other MedicationsOther Medications

BuspironeBuspirone::

Serotonin agonist.Serotonin agonist.

Shown to be effective for anxiety in adults.Shown to be effective for anxiety in adults.

Small open label study showed effectiveness in relieving Small open label study showed effectiveness in relieving anxiety, and claming children with autism.anxiety, and claming children with autism.

Social Cognition Training 1Social Cognition Training 1 ((Steerneman, 1996)Steerneman, 1996)

1.1. Making someoneMaking someone’’s acquaintance.s acquaintance.

2.2. Describing oneself.Describing oneself.

3.3. Recognition of emotions.Recognition of emotions.

4.4. Pretence.Pretence.

5.5. Taking perspectives in the thoughts and feelings of others.Taking perspectives in the thoughts and feelings of others.

Social Cognition Training 2Social Cognition Training 2 ((AssessmentAssessment) ) ((Steerneman, 1996)Steerneman, 1996)

Theory of Mind Screening ScaleTheory of Mind Screening Scale ((SteernemanSteerneman, 1994), 1994)

1.1. Assessment and recognition of the thoughts and feelings of Assessment and recognition of the thoughts and feelings of others.others. (First Order Belief).(First Order Belief).

2.2. Recognition of deceit and deception.Recognition of deceit and deception.(False Belief).(False Belief).

3.3. Recognition of intentions.Recognition of intentions.(Second Order Belief).(Second Order Belief).

Note:Note: Individuals with autism can learn to develop some Individuals with autism can learn to develop some aspects of symbolic play. (Jordan and Powell, 1995).aspects of symbolic play. (Jordan and Powell, 1995).

Social Cognition Training 3Social Cognition Training 3 ( (OutcomeOutcome)) (Steerneman, 1996)(Steerneman, 1996)

Gains achieved:Gains achieved:

1.1. Emotion recognition and perceptual role-taking (PDD-NOS).Emotion recognition and perceptual role-taking (PDD-NOS).

Social Competence and Social Skills Social Competence and Social Skills TrainingTraining(Bartak, 1996) Autistic Spectrum Disorder(Bartak, 1996) Autistic Spectrum Disorder

1.1. Describe themselves to group members.Describe themselves to group members.

2.2. Greetings, listening skills, conversational abilities, including topic Greetings, listening skills, conversational abilities, including topic maintenance including questioning and asking are taught in role maintenance including questioning and asking are taught in role plays and in viva practices (friendship).plays and in viva practices (friendship).

3.3. Use chess games to provide help with interpreting and reading Use chess games to provide help with interpreting and reading social cues and teach positive responses to others to reduce teasing social cues and teach positive responses to others to reduce teasing and negative feedback.and negative feedback.

4.4. Rules for developing friendships are taught, includinRules for developing friendships are taught, including g appropriate appropriate complimenting, how to maintain relationships, use of group projects complimenting, how to maintain relationships, use of group projects to facilitate inclusion and interactions.to facilitate inclusion and interactions.

(Higher functioning Autistic Spectrum Disorders)(Higher functioning Autistic Spectrum Disorders)

MelatoninMelatonin Pineal GlandPineal Gland

Hormone of DarknessHormone of Darkness

FunctionFunction Set circadian clockSet circadian clock Induction of sleepInduction of sleep

TreatmentTreatment

Side effectsSide effects

Case Report Case Report 17 year male, Asperger’s 17 year male, Asperger’s

Horrigan, Jarrett Barnhill, Horrigan, Jarrett Barnhill, 19971997

Open label studyOpen label study 50 patients50 patients 42 responders42 responders

Timing, DosagesTiming, Dosages

Product availabilityProduct availability

Clonidine and GuanfacineClonidine and Guanfacine

Alpha 2 NE Receptor antagonists.Alpha 2 NE Receptor antagonists.

Net effect: Decrease NE neurotransmission.Net effect: Decrease NE neurotransmission.

Antihypertensive agents.Antihypertensive agents.

Clonidine: Double-blind, placebo controlled studyClonidine: Double-blind, placebo controlled study

Jaselskis et al., 1992Jaselskis et al., 1992 8 Autistic boys, age 5 – 13, dose range 0.15 – 0.2 mg/day 8 Autistic boys, age 5 – 13, dose range 0.15 – 0.2 mg/day

(TID).(TID).

Stimulants in AutismStimulants in Autism

Dextroamphetamine.Dextroamphetamine.

Methylphenidate.Methylphenidate.

Neurotransmitter – Neurotransmitter – Dopamine.Dopamine.

Target symptoms:Target symptoms:

Impulsivity.Impulsivity. Hyperactivity.Hyperactivity. Short attention span.Short attention span.

DB Placebo Controlled DB Placebo Controlled Study MethylphenidateStudy Methylphenidate

Quintana et al., 1995Quintana et al., 1995 MPH / Placebo.MPH / Placebo.

Dose range 20 – 40 mg / Dose range 20 – 40 mg / day.day.

10 children: age 7 – 11.10 children: age 7 – 11. No effect on stereotypies / No effect on stereotypies /

abnormal movements.abnormal movements.

Clomipramine in AutismClomipramine in Autism

Serotonin Re-uptake Serotonin Re-uptake Inhibitor.Inhibitor.

Also blocks DA/NE reuptake.Also blocks DA/NE reuptake.

Effective depression and Effective depression and OCD.OCD.

Side effect profile.Side effect profile.

Target behaviours.Target behaviours.

Open Label StudiesOpen Label Studies Child and adult.Child and adult.

Double BlindDouble Blind Child / adolescent.Child / adolescent.

Behavioural ToxicityBehavioural Toxicity Child and adult.Child and adult.

Need for low dose in young Need for low dose in young children.children.

Autism and Asperger’s Syndrome Workshop Malta October 2012 Professor Michael Fitzgerald.

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Transcript of Autism and Asperger’s Syndrome Workshop Malta October 2012 Professor Michael Fitzgerald.