Aspergers Syndrome and Autism Engineering and Computing Felicity

Asperger’s Syndrome and Autism & Engineering and Computing Felicity Millman

Autism History • Pre 1943 - described as emotionally disturbed or intellectually disabled • 1943 - Autism / Kanners Syndrome described by Dr Leo – Kanner - Aspergers syndrome described by Dr Hans Asperger • 1970’s - Pervasive Developmental Disorder accepted in the US • 1980 – Autism included in the DSM as a diagnostic category • 1994 – Aspergers Syndrome included in the DSM IV.

What are Autism and Asperger’s? • DSM-IV classification (APA, 1994). – 1. Qualitative impairments in communication – 2. Qualitative impairment in social interaction. – 3. Restricted, repetitive and stereotyped patterns of behaviour, interests and activities (APA, 1994).

Pervasive Developmental Disorders Autism Social interaction Asperger’s Communication Imaginative play Childhood Disinteregrative Disorder Pervasive Developmental Disorder Not Otherwise Specified: including Atypical Autism

Autism in the Lifespan • Autism is a complex behavioural syndrome – onset in childhood – lasting throughout the lifespan

The Autism Epidemic? • Autism is a prevalent disorder – estimates ranging from approximately 0. 7 – 76 per 10000 individuals (Bauman & Kemper, 2004). – Rates of diagnosis have increased over the last 20 years, however this is not a true increase in prevalence.

MMR and Autism? • The MMR childhood vaccination has been anecdotally but not scientifically associated with onset of autism – Coincidence of timing – An immune response to the vaccination? – Exposure to thermisol (mercury)?

Behavioural Associations • • • intellectual disability seizure disorders abnormalities of motor behaviour impaired motor planning abnormal responses to sensory stimuli including pain, touch and noise. sleep and eating disturbances mood and affect disturbances self-injurious behaviour aggression and hyperactivity • (Bauman & Kemper, 2004, Schreck, Williams and Smith, 2004).

Biological Associations • • • auditory processing disturbances seizure disorders food and environmental sensitivities larger head circumference increased white matter in the brain reduction in number of Purkinje cells in the brain gastrointestinal dysfunction, hyperserotoninemia abnormal lymphocyte functions. hormones / neurotransmitter levels.

Autism Heritability: • Autism is recognised as highly heritable – classical autism concordance rates are approximately 60% for Monozygotic twins and 0% for Dizygotic twins. • Gender bias: 4 males to each female affected. • High rates of twins with Autism.

Autism genetics • Regions on every chromosome have been implicated in Autism at various stages. – Most commonly associated: • • • 5 HTT (serotonin transporter) 17 q 11 -12 GABRB 3 (GABA receptor B 3) 15 q 11 -13 RELN (reelin protein) 7 q 22 -33 C 4 B and HLA (immune system) 6 p 21. 3 OXTR (oxytocin receptor) 3 p 25 -26

Autism Genetics • Autism is polygenic. – There is no single causative gene for Autism. • Genes work in a system – No gene exists or act alone • Environment may have effect on gene – Penetrance and expressivity.

Autism diagnosis • Symptom clustering? • Genetic associations? • Autism Subtypes?

Autism Diagnosis: • Reconfiguration of understanding of disease status over last 50 years: Dementia praecox Childhood schizophrenia Autism Pervasive Develop Disorder • How good is our current classification? – Should we only be using classical symptoms for diagnosis or should we also include associated symptoms?

Autism Interventions • Behavioural – Applied Behavioural Analysis • Diet • Complimentary and Alternative Medicine • Medications – Antidepressants – Atypical Antipsychotics – Anti- epileptics – Melatonin

Prognosis • • • Level of functioning Co morbidities Family functioning Early Intervention Support and funding.

Impacts of Autism • Financial Costs – – – Medication Behavioural intervention Education Hospitalization Parental care Respite care • Social Costs – Time – Limited activities – Family structure

Autism, Asperger’s and Profession • Parents and grandparents of children who are Autistic or Asperger’s are overrepresented in the fields of: – – – Engineering Physics Accounting Computer Programming Science

Autism, Asperger’s and Profession cont. • • • Folk physics and folk psychology Hyper-male (extreme male brain theory) Systemizing and empathising Assortive mating theory Jobs for people with autism spectrum disorders.

Understanding Autism • • Prevention Early intervention and treatment Genetic Counseling Understanding of other disorders ie Schizophrenia • Quality of life for individuals with ASD and their family members.

Questions ?