1. Autism A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior. http://www.medterms.com/script/main/art.asp?articlekey=2399

2. Autism is a Pervasive Developmental Disorder (PDD) Who, what, when where why? The human brain-normal and abnormal development Genetics Language and cognition Social implications Interventions and therapies

3. What is a developmental disorder/disability? Birth defects Developmental Disabilities -Cerebral palsy -Down’s syndrome -Learning disabilities and ADHD -Autism and PDDs -Spina bifida -Heart defects -Cleft palate/club foot -Tay Sachs disease Pervasive developmental disorders a group of disorders that are characterized by : impairments in social interaction, impairment in verbal and nonverbal communication, and a restrictive, stereotypic pattern of behaviours www.oafccd.com/factshee/fact59.htm Autism Asperger’sRett’s Syndrome Childhood disintegrative disorder PDD-NOS

4. Characteristics of Autism (1)

5. Characteristics of Autism (2)

10. A little history…

12. Epidemiology of autism

14. Neuropathology

15. Copyright ©2004 Society for Neuroscience Schumann, C. M. et al. J. Neurosci. 2004;24:6392-6401 Figure 1. Orthogonal views for segmenting the amygdala and hippocampus on MRI sections

16. Copyright ©2004 Society for Neuroscience Schumann, C. M. et al. J. Neurosci. 2004;24:6392-6401 Figure 5. Absolute left (a) and right (b) hippocampal volume (in cubic centimeters) by diagnostic group for subjects 7.5-18.5 years of age (*p

17. Neuropathology What developmental processes might lead to a larger brain? -Increased neurogenesis -Increased gliogenesis, myelination -Increased synaptogenesis -Disturbed migration -Decreased apoptosis -Decreased dendritic pruning

18. Cellular pathology

19. Other brain regions

20. Neuropathology summary

21. Neurotransmitters Alterations in many neurotransmitter systems in autism -Glutamate -GABA -Serotonin -Catecholamines (norepinephrine, dopamine) -Neuropeptides

22. Changes in glutamate and/or GABA could lead to alterations in excitation/inhibition

23. Serotonin

24. Serotonin- Developmental changes Cortical decreases of AMT uptake (red areas) I n three autistic children in (1B) the frontal cortex (left hemisphere), (1C) frontal and temporal cortices (left hemisphere), and (1D) frontal, parietal and temporal cortices (right hemisphere) are shown.

25. Is autism a genetic disorder?

27. First autism twin study-1977 Folstein and Rutter, Nature 1977 - Total 25 autistic individuals -4/11 MZ pairs concordant for autism (36%) -0/10 DZ pairs were autistic (0%)

28. Twin studies - Is autism a spectrum? Do non-autistic MZ twins show other abnormalities?

29. Further twin studies Steffenburg 1989, Bailey 1995

30. Conclusions from twin studies

31. Family studies also suggest genetic link

32. Family studies-negative results

33. Looking for autism genes

34. Chromosomal abnormalities

35. Genes identified from linkage analysis

38. Gene summary

39. Controversies in autism