The Autism epidemic and a tale of health system paralysis.

1
The Autism epidemic and a tale of health system
paralysis.

• Dr David W Austin, PhD
• Director Swinburne Autism Bio-Research
  initiative (SABRI)
• Faculty of Life and Social Sciences
• Swinburne University of Technology
• Australia
• daustin_at_swin.edu.au
• Ph 03 9214 8682

2
1 out of 6 children are diagnosed with a
developmental disorder and/or behavioural
disorder 1 in 166 children are diagnosed with an
autism spectrum disorder
3
The emergence of a new disorder

• Children with a cluster of symptoms that was to
  become known as Autism were first noticed
  almost simultaneously on 2 continents (US and
  Europe) around 1940.
• Although initially rare (only 11 cases reported
  to 1940), prevalence exponentially increased over
  the ensuing decades, reaching a peak of 1 in
  every 120 children today.

4
The genesis of the autism epidemic

• Autism was first described in 1943 (Kanner),
  among children born in the early 1930s.
• By the mid 1980s, 1 in 2,500 was diagnosed with
  autism.
• By the mid 1990s, 1 in 250 children was diagnosed
  with autism
• The most recent studies in Australia, the US and
  UK show the prevalence of autism to be 1 in 120
  children

5
Autism Prevalence, 1993 - 2003
6
But arent we just getting better at diagnosing
it?

• No. The argument that the rise in autism rates
  are attributable to improved identification have
  been dismissed (Blaxhill et al., 2003 Croen
  Graether, 2003)

7
But isnt autism genetic?

• There is an autism epidemic. Epidemics happen
  because of environmental triggers.
• Martha Herbert, MD, PhD
• Pediatric Neurologist,
• Harvard Medical School

8
So how is the medical system helping these
children?
Australian doctors are authorised to prescribe
over 6,900 different medications. How many are
approved and indicated for use in autism?
None
9
World Health Organisation Management of Mental
Disorders

• 2 volumes, 632 pages covering management of all
  DSM-IV listed disorders.
• Typical subheadings include Description,
  Diagnosis, Epidemiology, Course, Prognosis,
  Management/Treatment.

• Example
• Schizophrenia All subheadings, 39 pages
• PDD (incl autism) no subheadings, 1/3 page (p.
  475)
• These conditions are difficult to treat and
  require ongoing intensive work to achieve even
  modest gains.

10
So how do we get from this
To this
11
Choices in the face of debate and uncertainty

• Include plausible and informed hypotheses
  centrally in the research agenda
• Look not only for environmental cause but also
  for the full range of mechanisms and consequences
  for the child.

12
Daring to change

• Knowing the biological irregularities common to
  autism and having plausible causal hypotheses
  guides research options.
• Instead of existing no treatment models of
  care, we open up a world of opportunity for
  research and treatment to improve the autistic
  childs condition and prognosis.

13
So what are the biological markers of autism?

• Inflam. Bowel Disease
• Opioids
• Persistent Measles
• Reflux Esophagitis
• Gastritis
• Intestinal permeability
• Food Allergies
• Heavy Metal Burden
• Brain Autoimmunity
• GI Dysbiosis

• Seizures/Sensory Issues
• Perfusion Defects
• Purine Disorders
• Elevated Ammonia
• Sulfation Defect
• Serotonin Defect
• Dopamine Defect
• Omega 3 deficit
• Nutritional Deficits
• Melatonin Deficit
• Thrombophilia

14
The brains of children with autism are
experiencing severe oxidative stress and
inflammation

• decreased glutathione levels and increased
  oxidative stress may play a role in the pathology

Kern Jones (2006). Journal of
Toxicology and Environmental Health.
15
Higher levels of environmental mercury are
associated with higher rates of autism

• The association between environmentally released
  mercury and special education rates were fully
  mediated by increased autism rates.

Palmer et al (2006). Health Place.
16
Mercury levels in children with autism are higher
than in neurotypical (normal) children
a significant relation does exist between the
blood levels of mercury and diagnosis of an
autism spectrum disorder. DeSoto Hitlan
(2007). Journal of Child Neurology.
17
Gastrointestinal Dysfunction

• bad digestion
• pathologic alterations in bowel flora
• increased gut wall permeability
• lymphoid nodular
• hyperplasia in ileum, in some cases

18
GI abnormalities
19
Methylation deficits
20
(No Transcript)
21
Immunological Irregularities

• Decreased resistance to infections
• Increased tendency to autoimmune problems
• Shift away from effective cellular function (TH1)
  to antibody (TH2) response
• Food sensitivities/allergies

Jyonouchi, H., et al. (2005). Neuropsychobiology,
5177-85
22
Central NervousSystem

• Altered sensitivity
• Abnormal processing of sensory and expressive
  information
• Abnormal neurotransmitter functions

23
Brain inflammation
ASD
Control
Neurons in autistic child larger than
control normal in appearance
Kemper Bauman, 1992 Bauman and Kemper, 2005
24
Extensive documentation of large brains in autism

• About 20 of young autistic heads are
  macrocephalic
• (gt 97th ile)
• Most are above average in volume.
• This is an atypical brain size distribution.
• It has no precedent in the literature.
• Herbert, The Neuroscientist, October 2005

• References
• Dementieva, Y.A. (2005)
• Deutsch, C. K. (2003)
• Courchesne, E. (2003)
• Sparks, Friedman (2002)
• Gillberg, C. (2002)
• Alyward, E. H. (2002)
• Courchesne, E. (2001)
• Miles, J. H. (2001)
• Fidler, D. J. (2000)
• Fombonne, E. (1999)
• Ghaziuddin, M. (1999)
• Bailey, A. (1999)
• Lainhart, J. E. (1997)
• Rapin, I. (1996)
• Davidovitch, M. (1996)
• Woodhouse, W. (1996)
• Piven, J. (1996)
• Piven, J. (1995)

25
(No Transcript)
26
Oxidative Stress

• Chauhan, A. Chauhan, V. Brown, W. T., and
  Cohen, I. Oxidative stress in autism increased
  lipid peroxidation and reduced serum levels of
  ceruloplasmin and transferrin--the antioxidant
  proteins. Life Sci. 2004 Oct 8 75(21)2539-49
• Sogut, S. Zoroglu, S. S. Ozyurt, H. Yilmaz, H.
  R. Ozugurlu, F. Sivasli, E. Yetkin, O. Yanik,
  M. Tutkun, H. Savas, H. A. Tarakcioglu, M.,
  and Akyol, O. Changes in nitric oxide levels and
  antioxidant enzyme activities may have a role in
  the pathophysiological mechanisms involved in
  autism. Clin Chim Acta. 2003 May 331(1-2)111-7.
• Yorbik, O. Sayal, A. Akay, C. Akbiyik, D. I.,
  and Sohmen, T. Investigation of antioxidant
  enzymes in children with autistic disorder.
  Prostaglandins Leukot Essent Fatty Acids. 2002
  Nov 67(5)341-3.
• Zoroglu, S. S. Armutcu, F. Ozen, S. Gurel, A.
  Sivasli, E. Yetkin, O., and Meram, I. Increased
  oxidative stress and altered activities of
  erythrocyte free radical scavenging enzymes in
  autism. Eur Arch Psychiatry Clin Neurosci. 2004
  Jun 254(3)143-7.
• James, S. J. Cutler, P. Melnyk, S. Jernigan,
  S. Janak, L. Gaylor, D. W., and Neubrander, J.
  A. Metabolic biomarkers of increased oxidative
  stress and impaired methylation capacity in
  children with autism. Am J Clin Nutr. 2004 Dec
  80(6)1611-7.

27
Other patterns of abnormalities

• Biochemical peculiarities
• nutritional deficits
• increased sensitivity to toxins
• problems creating DNA building blocks
• abnormal levels of sulfur
• abnormal amino acids
• impaired detoxification

28
Autism as systemic dysfunction
GI dysfunction Methylation deficits Immune
dysregulation CNS dysfunction Inflammation Oxidati
ve stress All of these areas represent in
points for our research into cause and
potentially effective treatments.
29
SABRI Who are we?

• Members are from the disciplines of
• Clinical Psychology
• The Brain Sciences Institute
• Biomedical Science
• We have the right people and the most modern and
  extensive biomedical laboratory facilities
• We have institutional-level support for the
  initiative
• We have the necessary relationships with external
  institutions to facilitate collaborative research
• And we are also parents, aunts, uncles, cousins
  and friends of Autistic children, professionally
  and personally invested in this area.
• We are determined to make a difference.
• Thank you.