January 19, 2011

So, What Exactly IS ASD?? (Part 2-Classifications & Causes)


I had meant to write this up and have it posted by the evening of the 16th, but we had a rough weekend and it just didn't happen.  I'm learning to accept that sometimes plans will fall through, sometimes I have to change what I had in mind to accomplish for the day, and it's not a big deal.  Things can wait.  There's precious little that HAS to be done when planned...things like doctor appointments and bill paying.  I hope this is a lesson that my husband can learn soon because he still gets upset if the weekend routine gets a little messed up.  Like on Sunday when we didn't get home from running errands until almost nap time.  It messed up his idea of our routine.  It didn't help that I forgot my cell phone at home and Thom is the worrying kind!

Anyway, back to my ASD definition.  I hope you're all ready for another installment!  Please keep in mind my disclaimer: 

I am not nor do I pretend to be an expert on ASD, SPD or anything else for that matter!  The info I share with you here is from web sources and/or from various books that I have read or am currently reading.  If you are in one of the fields I discuss and you notice that I have presented wrong information, please contact me so I can correct it. The last thing I want to do is pass on faulty info.  If you have a child and you recognize some of these symptoms in him or her, please don't assume that s/he is on the spectrum...use this info to take your own notes on your child and seek a professional to provide an evaluation.  Visit my links on the right hand side to learn more on your own.

That being said, I think we were going to talk about the Classifications and presumed Causes, weren't we?  let's get started!

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This info is being taken primarily from Wikipedia with a few of my own notes from different books inserted here and there.  If you didn't read (Part 1-Definition & Characteristics), of So, What Exactly IS ASD?? you can find it here.

There are 5 forms of ASD: Autism, Asperger's Syndrome, Pervasive Development Disorder Not Otherwise Specified (PDD-NOS), Rett Syndrome, and Child Disintegrative Disorder.  Autism forms the core of these disorders and all the rest have similarities in traits with Autism.  Asperger's is the most closely related in both signs and likely causes, with the most noticeable difference being no significant language delay. [Side Note: As Emerson definitely did not have any language delay, quite the opposite, I believe he probably would be classified as having Asperger's.]  PDD-NOS is diagnosed when the criteria are not met for a more specific disorder.  Rett Syndrome affects girls almost exclusively with the most noticeable traits being small hands and feet, repetitive hand movements such as the wringing of hands, and typically have no verbal skills.  Child Disintegrative Disorder is rare and is evidenced by a late onset in developmental delays in the areas of language, social function, and motor skills.

From Wikipedia:

The manifestations of autism cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, mentally disabled, and locked into hand flapping and rocking—to high functioning individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication.  Because the behavior spectrum is continuous, boundaries between diagnostic categories are necessarily somewhat arbitrary. Sometimes the syndrome is divided into low-, medium- or high-functioning autism (LFA, MFA, and HFA), based on IQ thresholds, or on how much support the individual requires in daily life; these subdivisions are not standardized and are controversial.

With newer technologies in the field of brain scans, it has been proposed recently that ASD cases be classified using genetics as well as behavior characteristics.  Talk about no two being alike...think of how many classifications and subtle differences could occur!  This classification might be quite helpful, however, in eventually identifying a cause for at least some of the ASD cases.

The classification of autism, as you can see, can be very confusing.  Identifying a cause has been affected by this overlapping of classifications and blurred boundary lines because of the "inability to identify biologically meaningful subpopulations"  as well as by the "traditional boundaries between the disciplines of psychiatry, psychology, neurology and pediatrics."  In other words, we can't all get on the same page with the same goal in mind in order to seek out answers.  Instead of pooling resources, it seems the each profession has its own sets of beliefs and ideas, researching what they feel to be the most likely cause.  This is how I understand it, anyway, from various tidbits I've read here and there about how parents and professionals alike tend to form a belief as to cause (genetic, vaccination history, food and diet, whatever) and spend their time, energy and resources trying to prove themselves right and everyone else wrong instead of coming together for the greater good.  I read somewhere recently--and forgive me for not remembering where, but I read so much these days!--that ASD is the only childhood disease that doesn't have a "united front."  What a shame!  Think of how much good could be achieved if we could agree to no disagree and, instead, search together keeping an open mind about causes behind what some call a world wide epidemic.

So what about these presumed causes anyway?  What's that all about?  Well, this is where I know about as much as the next person...which is very little.  I really haven't gotten into that whole section yet, so bear with me as I give a brief overview.  I'm sure I'll have more to say on the subject later on.  Copying straight from Wikipedia:

It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism's characteristic triad of symptoms.  However, there is increasing suspicion that autism is instead a complex disorder whose core aspects have distinct causes that often co-occur.  Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multigene interactions of common genetic variants....However, most of the mutations that increase autism risk have not been identified. Typically, autism cannot be traced to a single-gene mutation or to a single chromosome abnormality, and none of the genetic syndromes associated with ASDs have been shown to selectively cause ASD....The large number of autistic individuals with unaffected family members may result from copy number variations—spontaneous deletions or duplications in genetic material during meiosis.  Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.

Several lines of evidence point to synaptic dysfunction as a cause of autism.  Some rare mutations may lead to autism by disrupting some synaptic pathways, such as those involved with cell adhesion.  Gene replacement studies in mice suggest that autistic symptoms are closely related to later developmental steps that depend on activity in synapses and on activity-dependent changes....

Although evidence for other environmental causes is anecdotal and has not been confirmed by reliable studies, extensive searches are underway.  Environmental factors that have been claimed to contribute to or exacerbate autism, or may be important in future research, include certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, vaccines, and prenatal stress, although no links have been found, and some have been completely dis-proven.

And remember in my Part 1 post where I said I was going to discuss the "presumed Causes...including one much talked about cause that I've discovered has no supportive evidence to link it to autism.  Can you guess what it is?"  Well, listen up because here it is:

Parents may first become aware of autistic symptoms in their child around the time of a routine vaccination, and this has given rise to theories that vaccines or their preservatives cause autism, which was fueled by a scientific study which has since been proven to have been falsified.  Although these theories lack convincing scientific evidence and are biologically implausible, parental concern about autism has led to lower rates of childhood immunizations and higher likelihood of measles outbreaks in some areas.

That's right...it seems that the vaccinations causing outbreaks of Autism is unfounded, and that the doctor, whose license has since been revoked, padded his findings.  His name is Andrew Wakefield and he published his so-called findings in a British medical journal called The Lancet.  Upon investigation, it was discovered that he manipulated evidence, falsified his findings and broke other ethical codes.  How many parents of autistic children out there freaked out thinking it was caused by vaccinations?  Some were looking for someone and/or something to blame and eagerly jumped on the bandwagon.  And how many still are?  It was only recently that Wakefield was banned from the medical community.  The Lancet retracted the article in 2010, and the BMJ (British Medical Journal) declared the research fraudulent just earlier this year! 

The scientific consensus is that no evidence links the vaccine to the development of autism, and that the vaccine's benefits greatly outweigh any risks.  (Wikipedia)

I was reassured learning this because I'd hate to think that something I could have held back from doing caused my son autism.  Although, with Emerson, the signs were there since infancy...I just didn't recognize a lot of them because I didn't have the required knowledge.  However, I do believe more research is needed.  While there have been a handful of new researches into the MMR claim and they found no supportable evidence to link the vaccination to autism, they also have not completely disproven it.  Perhaps it still plays some role somewhere.  The benefits of administering the vaccine, however, outweigh the risks of withholding it.  At least in my opinion!

Go ahead and reread all the Wikipedia stuff again.  Biology is not my strong suit and I had to read it through a couple of time myself! LOL  I don't think I'll talk about the History in this post...I'll save that for a day when I have nothing else to write about (so, you know, several years from now! hahahaha).

My next installment will be about Diagnosis and maybe touch on Management.  I'll also do an overview of the causes...put into a little easier wording.  I also recently read a little more about the vaccination debate and want to tell you all a little more about it.  That post might be a while in coming, however, as we have lots going on in our little corner of the autism world with Emerson's upcoming school board evaluation and second OT appointment.

Thanks for joining me today!
   

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