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Autism and Autism Spectrum Disorders Professor Graham Martin OAM Director Child and Adolescent Psychiatry The University of Queensland.

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Presentation on theme: "Autism and Autism Spectrum Disorders Professor Graham Martin OAM Director Child and Adolescent Psychiatry The University of Queensland."— Presentation transcript:

1 Autism and Autism Spectrum Disorders Professor Graham Martin OAM Director Child and Adolescent Psychiatry The University of Queensland

2 Autism A severely disabling condition that develops in first 3 years of life A severely disabling condition that develops in first 3 years of life Occurs approx 1 in every births Occurs approx 1 in every births More common in boys (4:1) More common in boys (4:1) Features vary from child to child, and differ in severity from child to child Features vary from child to child, and differ in severity from child to child No influence from ethnic, racial, social factors, income, lifestyle or parental educational levels No influence from ethnic, racial, social factors, income, lifestyle or parental educational levels

3 Common Features Communication problems Both verbal and non-verbal, with relative lack of speech, repeated words, phrases or patterns Both verbal and non-verbal, with relative lack of speech, repeated words, phrases or patterns Limited Social Interactions Poor eye contact and difficulty interacting Poor eye contact and difficulty interacting Difficulties expressing emotions Difficulties expressing emotions Poor perception of how others think and feel Poor perception of how others think and feel Repetitive Behaviours repeating words or actions repeating words or actions obsessively following routines obsessively following routines

4 Causes of Autism Genetic 12 or more genes on different chromosomes may be involved 12 or more genes on different chromosomes may be involved Genes may Genes may make a person more susceptible to impact of (say) infection make a person more susceptible to impact of (say) infection directly cause specific symptoms directly cause specific symptoms determine severity of symptoms determine severity of symptoms

5 Likely Chromosomes and Genes Chromosome 2 Chromosome 2 Chromosome 7 Chromosome 7 Chromosome 13 Chromosome 13 Chromosome 15 Chromosome 15 Chromosome 16 Chromosome 16 Chromosome 17 Chromosome 17 The X Chromosome The X Chromosome HOXA1 HOXA1 HOXD1 HOXD1 Gamma-amino-butyric acid (GABA) pathway genes Gamma-amino-butyric acid (GABA) pathway genes consensus that it is Polygenetic (>10) consensus that it is Polygenetic (>10)

6 Other Causes 24% of cases overlap other genetic medical disorders Fragile X Syndrome Fragile X Syndrome Tuberous Sclerosis, Phenylketonuria (PKU) Tuberous Sclerosis, Phenylketonuria (PKU) Rett Syndrome Rett Syndrome Other possible causes in utero rubella in utero rubella encephalopathy encephalopathy cytomegalovirus cytomegalovirus

7 Diagnostic Criteria 6 items; at least 2 from (1), 1 each from (2) & (3) (1) Qualitative impairment in social interaction, as manifested by at least two of the following: (1) Qualitative impairment in social interaction, as manifested by at least two of the following: Marked impairment in the use of multiple non verbal behaviors such as eye- to- eye gaze, facial expression, body postures, and gestures to regulate social interaction. Marked impairment in the use of multiple non verbal behaviors such as eye- to- eye gaze, facial expression, body postures, and gestures to regulate social interaction. Failure to develop peer relationships appropriate to developmental level Failure to develop peer relationships appropriate to developmental level A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest) A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest) Lack of social or emotional reciprocity Lack of social or emotional reciprocity

8 Diagnostic Criteria (2) Qualitative impairments in communication as manifested by at least one of the following: Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others. Stereotyped and repetitive use of language or idiosyncratic language, or copying of language (Echolalia) Stereotyped and repetitive use of language or idiosyncratic language, or copying of language (Echolalia) Lack of varied, spontaneous make- believe play or social imitative play appropriate to developmental level. Lack of varied, spontaneous make- believe play or social imitative play appropriate to developmental level.

9 Diagnostic Criteria (3) Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following: Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus. Apparently inflexible adherence to specific, nonfunctional routines or rituals Apparently inflexible adherence to specific, nonfunctional routines or rituals Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting or complex whole body movements or copying of movements (Echopraxia) Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting or complex whole body movements or copying of movements (Echopraxia) Persistent preoccupation with parts of objects. Persistent preoccupation with parts of objects.

10 Diagnostic Criteria B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age three years: Social interaction Social interaction Language as used in social communication or Language as used in social communication or Symbolic or imaginative play Symbolic or imaginative play C. Not better accounted for by Rett disorder or childhood disintegrative disorder. C. Not better accounted for by Rett disorder or childhood disintegrative disorder.

11 Sensory Changes Overly sensitive to touch (may have a tactile defensiveness) Overly sensitive to touch (may have a tactile defensiveness) Under-responsive to pain Under-responsive to pain Senses may be affected to a lesser or greater degree Senses may be affected to a lesser or greater degree No real fear of dangers No real fear of dangers

12 Play Lack of social interaction in play - which is more solitary Lack of social interaction in play - which is more solitary Lack of spontaneous or imaginative play Lack of spontaneous or imaginative play Does not imitate others actions Does not imitate others actions Does not initiate pretend games Does not initiate pretend games Sustained odd play Sustained odd play

13 Behaviours Overactive or Passive Overactive or Passive Temper tantrums for no apparent reason Temper tantrums for no apparent reason May perseverate on a single item, idea, person May perseverate on a single item, idea, person Apparent lack of common sense Apparent lack of common sense May show aggression or violent behaviours May show aggression or violent behaviours May injure themselves deliberately for no apparent reason May injure themselves deliberately for no apparent reason May spin objects, line things up, organize May spin objects, line things up, organize Inappropriate attachment to objects Inappropriate attachment to objects Unresponsive to normal teaching methods Unresponsive to normal teaching methods Insistence on sameness; resists change in routine Insistence on sameness; resists change in routine Uneven gross/fine motor skills (may not can kick ball but can stack chairs) Uneven gross/fine motor skills (may not can kick ball but can stack chairs)

14 Absolute Indications For ASD Assessment No babbling, or pointing, or other gestures by 12 months No babbling, or pointing, or other gestures by 12 months No single words by 16months No single words by 16months No 2-word spontaneous phrases by 24 months No 2-word spontaneous phrases by 24 months any loss of any language any loss of any language any loss of social skills at any age any loss of social skills at any age

15 Specific Screen for Autism Full audiological assessment, lead screen if pica present Full audiological assessment, lead screen if pica present CHAT, MCHAT CHAT, MCHAT Autism Screening Q Autism Screening Q Australian Scale for Aspergers Syndrome Australian Scale for Aspergers Syndrome then refer for intervention and autism specific assessment

16 Specific Autism evaluation Diagnostic Parental Interviews Gilliam Autism Rating Scale (GARS) Gilliam Autism Rating Scale (GARS) Parent Interview for Autism Parent Interview for Autism The Pervasive Developmental Disorders Screening Test ( PDDST) The Pervasive Developmental Disorders Screening Test ( PDDST) Autism Diagnostic Interview- Revised (ADI- R) Autism Diagnostic Interview- Revised (ADI- R)

17 Diagnostic Observation Instruments The Childhood Autism Rating Scale (CARS) The Childhood Autism Rating Scale (CARS) The Autism Diagnostic Observation Schedule (ADOS) The Autism Diagnostic Observation Schedule (ADOS)

18 Intervention There is no cure for autism. There is no cure for autism. Treatment and education approaches may reduce some challenges associated with the disability. Treatment and education approaches may reduce some challenges associated with the disability. Intervention may lessen disruptive behaviours. Intervention may lessen disruptive behaviours. Education can teach self-help skills for greater independence. Education can teach self-help skills for greater independence. Intervention needs to be tailored to the individual, and their family Intervention needs to be tailored to the individual, and their family

19 Behaviour Therapy Most widely used and successful method is intensive behavioural intervention (IBI) We believe that behavior modification carried out in systematic, highly individualized, daily programming is the best overall approach now available to persons with autism (Graziano, )We believe that behavior modification carried out in systematic, highly individualized, daily programming is the best overall approach now available to persons with autism (Graziano, )

20 Team Approach Speech therapy Helps in developing communication skills which may include alternative forms of communication (sign language and the use of keyboards) Helps in developing communication skills which may include alternative forms of communication (sign language and the use of keyboards) Occupational Therapy Addresses specific needs for daily living Addresses specific needs for daily living

21 Team Approach Art and music therapy can be used to increase communication skills, social interaction, and a sense of accomplishment. Medication may be necessary to control behaviour or sleep Dietary assessment is important - a balanced diet as far as possible but with extra vitamins and/or minerals. Dietary assessment is important - a balanced diet as far 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.

22 Autism Spectrum Disorder May have to consider: Autism Autism Aspergers Syndrome (AS) Aspergers Syndrome (AS) Tourettes Syndrome (TS) Tourettes Syndrome (TS) Landau Kleffners Syndrome (LKS) Landau Kleffners Syndrome (LKS) Rett Syndrome Rett 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 Syndrome Prader Willi Syndrome Fragile-X Syndrome Fragile-X Syndrome PKU PKU Hurlers Syndrome Hurlers Syndrome Cornelia de Lange Syndrome Cornelia de Lange Syndrome Williams Syndrome Williams Syndrome

23 Aspergers Syndrome Original report: Autistic Psychopathies in Childhood (1944) translated into English in 1980

24 Aspergers Observations Children Find it difficult to fit in socially Find it difficult to fit in socially Have poor social use of language Have poor social use of language Have limited ability to use and understand gestures and facial expressions Have limited ability to use and understand gestures and facial expressions Use repetitive, stereotypical behaviors Use repetitive, stereotypical behaviors Have abnormal fixations on certain objects/ areas of interest Have abnormal fixations on certain objects/ areas of interest Are vulnerable to teasing and bullying Are vulnerable to teasing and bullying

25 Aspergers Syndrome A pervasive developmental disorder characterized by: Impairment of two-way social interaction and general social ineptitude Impairment of two-way social interaction and general social ineptitude Speech which is odd/pendantic, stereotyped in content, but which is not delayed Speech which is odd/pendantic, stereotyped in content, but which is not delayed Adherence to rules, routines, rituals Adherence to rules, routines, rituals Lack of social reciprocity Lack of social reciprocity Limited non-verbal communication skills – little face expression or gestures Limited non-verbal communication skills – little face expression or gestures Generally equated with high functioning autism.

26 Distinctions between Aspergers Syndrome and Autism Children with autism exhibit a significant delay in language skills Children with autism exhibit a significant delay in language skills Children with Aspergers have only mild impairments or peculiar ways of using language Children with Aspergers have only mild impairments or peculiar ways of using language

27 Diagnostic Features of Aspergers Social Interactions Socially aloof, unconcerned Socially aloof, unconcerned Inappropriate eye contact (but usually present) Inappropriate eye contact (but usually present) Peer friendships occur, but may lack strategies to develop or maintain Peer friendships occur, but may lack strategies to develop or maintain Difficulty taking the perspective of another person Difficulty taking the perspective of another person May often lack empathy May often lack empathy Blatantly honest or straight-forward even when not in their best interest Blatantly honest or straight-forward even when not in their best interest Tense and distressed when trying to cope Tense and distressed when trying to cope

28 Social Communication Superficially perfect spoken language Superficially perfect spoken language May lack voice expression, difficulty interpreting different tones of voice May lack voice expression, difficulty interpreting different tones of voice Difficulty interpreting and using non-verbal communication, body language, gestures, facial expressions Difficulty interpreting and using non-verbal communication, body language, gestures, facial expressions May take things in a very literal way May take things in a very literal way May fail to grasp implied meanings of language May fail to grasp implied meanings of language May not easily grasp social rules or subtleties May not easily grasp social rules or subtleties May talk at length about topics that are of interest to only him/herself May talk at length about topics that are of interest to only him/herself Uses objects in an atypical fashion Uses objects in an atypical fashion Insists that others do things according to their own prescribed order and rules Insists that others do things according to their own prescribed order and rules

29 Poor Problem Solving and Organizational Skills Difficulties in… Difficulties in… Situations requiring common sense Situations requiring common sense organizing thoughts and abstract reasoning organizing thoughts and abstract reasoning Transitioning from one situation to another Transitioning from one situation to another Deficits in… Deficits in… mental planning mental planning Impulse control Impulse control Self monitoring Self monitoring Strong desire for orderliness may delay achieving goals Strong desire for orderliness may delay achieving goals

30 Limited Interests and Preoccupations May talk at length about topics that are of interest to only him/herself May talk at length about topics that are of interest to only him/herself Redirects conversations back to topics of interest even at risk of being ridiculed or shunned Redirects conversations back to topics of interest even at risk of being ridiculed or shunned Friends interested in similar things Friends interested in similar things Jobs in areas of interests Jobs in areas of interests

31 Pragmatic Disorder Lack of understanding about the reciprocity of verbal and nonverbal communication Lack of understanding about the reciprocity of verbal and nonverbal communication Decreased understanding and use of gestures Decreased understanding and use of gestures Decreased use of questions Decreased use of questions Difficulty maintaining a conversation Difficulty maintaining a conversation

32 Tests Test of Pragmatic Language Test of Pragmatic Language Test of Problem Solving Test of Problem Solving

33 Effective Strategies to Teach Pragmatic Language Social Language Groups Social Language Groups Social Language Stories Social Language Stories Reciprocal Conversation with Therapist Reciprocal Conversation with Therapist Role Playing Role Playing Videotaping Videotaping Coaching During Social Times Coaching During Social Times

34 Language Disorder Sometimes language learning is precocious Sometimes language learning is precocious There must be words by 2 years and phrases by 3 years There must be words by 2 years and phrases by 3 years Style of learning language may be like an autistic child: echolalia, difficulty learning pronouns, difficulty understanding verbal explanations Style of learning language may be like an autistic child: echolalia, difficulty learning pronouns, difficulty understanding verbal explanations

35 Tests Preschool Language Scale-4 Preschool Language Scale-4 Clinical Evaluation of Language Clinical Evaluation of Language The Test of Language Development The Test of Language Development Expressive One Word Vocabulary Test Expressive One Word Vocabulary Test Peabody Picture Vocabulary Test Peabody Picture Vocabulary Test

36 Language Test Scores Show 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.

37 Teach Flexibility COMPROMISING If you compromise, you are doing the right thing. If you compromise, you are doing the right thing. Compromise means letting the other person have his way. Compromise means letting the other person have his way. If you do this, you get a bonus point. If you do this, you get a bonus point.

38 Teach Flexibility BEING BOSSY Often turn other children off by being bossy, controlling and judgmental. Often turn other children off by being bossy, controlling and judgmental. So, they lose a point (or a turn) for teasing criticizing another child. So, they lose a point (or a turn) for teasing criticizing another child. Alternately, they get extra points for saying something nice. Alternately, they get extra points for saying something nice. If the child starts out saying several nice things, he is not teased as much.

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