Sunday, February 20, 2011

Lessons on autism - Part 1

Lots of buzz about autism these past few years....or decade.

Couple of "Facts" about Autism:

  • A new case of autism is diagnosed nearly every 20 minutes
  • There are 24,000 new cases diagnosed in the U.S. each year
  • The economic impact of autism is more than $90 billion and is expected to more than double in the next decade.
  • Autism receives less than 5% of the research funding of many less prevalent childhood diseases.
  • There is no medical detection or cure for autism.
  • (source: TACA)
Autism is everywhere! I see at least two "spectrumey" kids a day during my current rotation.

Spectrumey [spek-trhm-ey]- informal adjective used to describe individuals who display characteristics of Autism but do not presently have a diagnosis of Autism.

What is going on? How are so many of these children emerging? Why isn't there a cure? What about the CACNA1G gene? It's genetic then, can't we fix it?!


Autism is a PHENOTYPE. Capish?

Phenotype [fen-a-tip]- the observable physical or biochemical traits of an organism.

The phenotype for autism involves a diagnostic triad.

Meaning that children must present with signs or symptoms in the following areas:

Social- any social deviation from the norm can be considered.
Some stereotypic behaviors include:
  • non response to name
  • little to no eye contact
  • low affect, little response to human emotion

Communication- any deviation from the norm in communication.
For example:
  • Producing speech, kids with autism are stereotypically echolalic (they repeat what they hear) this isn't always the case- even often isn't the case but it is not a typical behavior.
  • They are often late talkers, could be attributed to the lack of social motivation to use speech or maybe because they aren't attending to their language models they haven't picked it up in a traditional way.
  • Difficulty with abstract concepts and generally communicate in concrete terms and ideas (including play, avoiding abstract or pretend play)
  • Difficulty interpreting non-verbal behavior.

Cognitive/Behavior- any behavior deviating from the social norm.
  • Pervasive behavior like counting, hand flapping, obsession with items like trains etc.
  • Lining or organizing objects compulsively.
  • Obsession with routines and schedules
(source: AWARES)

So people with a diagnosis of Autism should have impairment to some degree in all three of these areas. Impairment can potentially mean anything that deviates from the social norm.

Autism as a phenotype: Autism describes a person (relative to communication, cognitive and social behavior) but does not -ever- describe the underlying reason for these behaviors.
Translation: You can have 20 kids with "autism" and each one of them can have a different reason for the behaviors. They can potentially not have one single thing in common except that they are not within "normal" limits.

Of course, autism is considered a spectrum disorder (the root of the term spectrumey) so the range of severity is infinite in both directions.

Does this mean that my quirky friend/sister/cousin who never manages to say the right thing in social situations, is oblivious to all abstract attempts to teach appropriateness, repels emotional connections and is rigid about priorities and social roles would have autism had he/she been born 20 years later?


Part 2, stay tuned.

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