Introduction to the Science of Autism

Science and Medicine

The most important factors in this web site are that science depends on showing that the scientific findings in autism can be repeatable at a later date and hence should be expected to take place if the same tests were carried out on different clinical cases or in different laboratories. 

 

The findings would be expected to be of significance later and so published (i.e. peer reviewed) data in scientific journals must be taken as of significance for interpretation with a further ASD child, whereas the simple findings of a single case may not be and the reports of parents may be open to question.

 

Science and Autism

  • Current point in the growth of scientific knowledge must be considered to be early.  We do not know how most of the cases seem to take place, or what their underlying chemistry actually is.   Notably, however, there has been a rapid increase in knowledge since the beginning of the 1990s and an even more rapid growth since the work on gut histopathology took place in 1998.  
  • Currently parents are under intense pressure and  hope for a quick fix of some kind.  There is a tendency to look into diet changes and simple compound treatments.  In the long term this is inadequate without full assessment.
  • Researchers must realise that the angle that they are chasing is only one of many and any scientific assessment must involve medical, psychological, and scientific groups.
  • Any important research must include factors from many others.  This is fully discussed below.

Opportunity

The amazing thing to any clinical scientist is that autism has not been solved and fully understood like many other conditions.  One of the problems is that psychological assessment is difficult and variable according to the person that is carrying it out.  Specifically missing are:

  • Underlying cause for the vast majority of cases.  Very much under argument
  • Diagnostic systems that do not involve psychology
  • Treatment of any underlying cause that might be possible
  • General measures for modifying the condition
  • Specific treatment for the autistic child that is affected.
  • Don’t be put off!!

The current scientific situation cannot help adequately many patients right now.

Parents and ASD cases need help with bringing up, with interaction and teaching. This web site is not aimed at this and I must ask readers to look to national and local groups for major help.  For instance see these on links.

 

 

 

Leo Kanner, who attempted to define autism as a separate condition during the 1940s.

 

 

Introduction:

 

Taken from Ashwood et al: The Immune response in autism: a new frontier for autism research. J Leukocyte Biol 2006;80:1-15

 

“Autism spectrum disorders (ASD) are part of a broad spectrum of heterogeneous, neurodevelopmental disorders known as pervasive developmental disorders (PDD), which include autism, Asperger’s syndrome, Rett’s disorder, and childhood disintegrative disorder. By definition, ASD are characterized by disturbances and impairments in social interaction, verbal and nonverbal communication [1 ], with onset usually occurring in the first 36 months of childhood. Repetitive and stereotyped behaviors as well as attention and sensory abnormalities are common findings in patients with ASD. Recently, the prevalence of ASD has increased dramatically, which many agree, cannot be attributed completely to improved diagnostic techniques and increased awareness. Reports estimate that ASD affects approximately nine per thousand persons, with a biased male-to-female ratio of three or four to one. The exact etiology of autism and ASD remains largely unknown, although it is likely to result from a complex combination of environmental, neurological, immunological, and genetic factors.”

 

 

Further science: advice for researchers

For any further science to be interpreted adequately has become almost frighteningly difficult and easy for competitors to question.  The reason for this is that many findings have been made so far and somehow these would be expected to fit in to each other.  What tends to happen currently is that a research group publishes their findings in a reasonable manner in such a way as to indicate that a reader can expect to find a similar finding in cases of autism that they test.  However, another group may be working completely separately and not taking any notice of these findings.  This is not acceptable in modern science and all scientific descriptions of autistic groups should be assessed with respect to the findings not just of other workers in the same field but with those from other fields as well. 

 

As  Ashwood states above it is clear that ASD cases that any researchers deals with will be part of the heterogenous group caused by genetic, environmental, infective, toxic and probably other effects. 

 

As such all new research must make sure that their work takes other, previous work into account (even though it may not appear to  be of significance).    Any new findings must realise that results may apply to some fragments of Ashwood’s heterogenous groupings but not to others.  Because of this, new researchers must in some way be able to categorise their results rather than say ‘our test worked for 25% of cases’.   What is needed is for this researcher to be able to say that the 25% of ASD cases that the test appeared to be useful for had different serotonin levels or red cell glutathione from the other group.  Without this sort of finding we are continuously swimming in the dark.  

 

Some research is still under question or being developed, but others have been reliably repeated apparently.   Right now any new researcher that claims to have found an underlying understanding of the syndromes must be able to explain very specific findings to fit with their claim:

 

  1. Immune changes: e.g. The Th1/Th2 ratios.  Immune globulins, white cell counts, lymphocyte immunofluorescence stains for ratios.
  2. Hormone changes: e.g. diurnal lack of changes in cortisol and high ACTH
  3. Prenatal hyperandrogenism : measure the D2/D4 ratio
  4. Autoimmune factors i.e. increased levels of antibodies interactive with nervous tissue
  5. Sulphate biochemistry changes:  sulphate level plus serum sample.
  6. Glutathione levels in red cells and indicators of oxidative stress: e.g. see Zoroglu.
  7. Genetic changes: This would require a wide range of tests.  It would be worthwhile saving cheek scrape samples until this was available.
  8. Absorption from the gut modifications. 
  9. Reelin level in blood. E.g. see Fatemi
  10. Platelet serotonin level.
  11. Consider MRI scanning
  12. Keep data on the vaccine history of the tested patient and control, along with other data that is normally kept (psychological, date at which it was first realised that there was a problem with the child, possibility of ‘regression’, sex, family history etc.

 

Often it is a good idea to hold the samples for tests 1-10 above for them to be tested at the same time i.e. in a batch.  This would be cheaper and would make it much easier to compare samples between each other.

 

It must also be realised that many other factors that are already under study may turn out to be important and hence, it would be important for a researcher to associate these new findings with results from cases that they have already studied.  To do this it would be good to take blood samples and mouth scrape samples to be saved for testing at a later date. 

 

Don’t be put off

 

Please don’t be put off by this current need for a wide range of tests to go along with each enterprise.  This only shows just how much difference you can make right now: we are very much searching for factors that fit along with a wide range of cases.  

 

Don’t be put off by what has happened to the group at the Royal Free Hospital in London, who found something that might not agree with official opinion; they may end up as heroes.

 

Don’t be put off by the incredible mountains of red tape that are appearing in some countries (e.g. UK).  Everyone wants you to find the answers; even the officials want to help.

 

Contact me if you cant understand all this!

 

Steve Dealler