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

Autism A severely disabling condition that develops in first 3 years of life Occurs approx 1 in every 5-600 births More common in boys (4:1) 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

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

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

Likely Chromosomes and Genes The X Chromosome HOXA1 HOXD1 Gamma-amino-butyric acid (GABA) pathway genes consensus that it is Polygenetic (>10)

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

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: 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 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

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

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. 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) Persistent preoccupation with parts of objects.

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

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

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

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

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

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

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

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

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

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, )

Team Approach Speech therapy 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

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. 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 Disorder May have to consider: Autism Asperger’s Syndrome (AS) Tourette’s Syndrome (TS) Landau Kleffner’s Syndrome (LKS) Rett Syndrome Attention Deficit/Hyperactivity Disorder (AD/HD) Specific Learning Disabilities (SLD) Childhood Disintegrative Disorder (CDD) Prader Willi Syndrome Fragile-X Syndrome PKU Hurler’s Syndrome Cornelia de Lange Syndrome William’s Syndrome

Asperger’s Syndrome Original report: “Autistic Psychopathies in Childhood” (1944) translated into English in 1980

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

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

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

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

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

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

Limited Interests and Preoccupations 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 Friends interested in similar things Jobs in areas of interests

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

Tests Test of Pragmatic Language Test of Problem Solving

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

Language Disorder Sometimes language learning is precocious 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

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

Language Test Scores Show an Unusual Profile Highest scores are in expressive vocabulary, Next highest are in receptive vocabulary, Next are in grammatical structures, Often below average are tests of problem solving, Lowest area is in pragmatic language skills.

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

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

Resources www.ocali.org www.autism-society.org