Diagnosis
Sweet Sibling Short
Published July 30, 2009 @ 04:00PM PT
The Aspergers Association of New England (AANE) has a documentary short posted on their site called My Brother Tom. The film was made by Kaz Gamble about, well, his brother Tom (strange, I know). The film is also about acceptance, understanding, the importance of diagnosis, and insight both into a healthy sibling point of view and into issues specific to that generation of individuals who were not diagnosed until well into adulthood. Most importantly though, it's a sweet, fun film to watch.
Here's the trailer from YouTube.
You can view the full film on AANE's site.
Labels vs. Life
Published July 07, 2009 @ 04:00PM PT
Is it Autism, Sensory Processing Disorder, or both? is the headline of an Examiner post that, well, talks about autism vs. sensory processing disorder a.k.a. sensory integration dysfunction.
This is akin to discussions regarding autism vs. nonverbal learning disabilities (that link is a discussion by various professionals on a case study and is a case study in itself for the point of this post here).
And also akin to discussions regarding autism vs. semantic pragmatic language disorder.
On one hand, these labels can be a really positive source of self-understanding, of needed supports and services, of better communication, and a key to finding accommodations that work.
On the other hand, these labels aren't life--how people think, feel, experience and interact with the world is incredibly complex. Even if we discard (ha!) the interplay between personality, history, and biology, mind remains too complex for us to even define let alone label with a tidy diagnostic word. Sometimes it's easy to forget the artificiality of these labels.
In the end what matters isn't whether a person "has" this thing or this other thing or both, what matters is that a person "is"--complex, undefinable, real, alive.
Knowing About Autism Earlier & Earlier & Earlier?
Published July 01, 2009 @ 02:23PM PT
A review of 40 studies in the British Journal of Psychiatry examines over 50 prenatal factors for autism:
The factors associated with autism risk in the meta-analysis were advanced parental age at birth, maternal prenatal medication use, bleeding, gestational diabetes, being first born v. third or later, and having a mother born abroad. The factors with the strongest evidence against a role in autism risk included previous fetal loss and maternal hypertension, proteinuria, pre-eclampsia and swelling.
(For the record: I was 28 years old when Charlie was born and had pre-eclampsia.)
A BBC report on the study from yesterday is (rather misleadingly) headlined Problem pregnancy 'autism risk' and quotes Richard Mills of Research Autism:
"Age is a very interesting line of inquiry, but it is very hard to tease out one clear factor. It is like trying to complete a huge jigsaw puzzle - we still just don't know how all the pieces fit together."
Indeed---just as as many as 100 genes have been linked to autism, so it seems that multiple factors are being identified and studied, and not one of them has been, it seems, taken off the table. One reason for such studies is to be able to detect autism at earlier and earlier stages of a child's life and, too, before a child is born. Another BBC news story reports that a "universal embryo test" is "'very near'":
The test - which will cost around £2,500 - uses a technique called karyomapping which looks for the inheritance of sections of DNA or chromosomes.
Rather than knowing the exact gene mutation which is passed down the generations in an family affected by a condition such as cystic fibrosis, doctors can just look for the block of DNA containing a faulty gene.
At the moment genetic testing of embryos is generally limited to a few conditions.
But karyomapping could in theory be used to test for any one of the 15,000 genetic defects known about.
Using the same test doctors could also look at whether any chromosomes are missing or duplicated which suggests the embryo will not be viable.
Autism is specifically cited as one condition--a "'major [disease]" that the test could be used for, by looking for genetic causes that occur in 5% of cases.
While there is currently no prenatal test for autism, it is looking more and more inevitable. In view of the British Journal of Psychiatry study on the causes of autism and how various factors in pregnancy might affect this, autism is definitely going to be something that families expecting a baby hear about.
All the more reason to get the word out about older children and adults on the spectrum and how, while things are often not easy, it's a good life.
More Autism Than You'd Think; However......
Published May 31, 2009 @ 12:25AM PT
You've probably heard of the recently published study in the British Journal of Psychiatry about autism being undiagnosed in "hundreds of thousands" of children. The study was led by Professor Simon Baron-Cohen of the Autism Research Centre. The May 28th Telegraph offers a summary:
A study of schoolchildren in Cambridge has found that for every three children who have been diagnosed with autism spectrum disorder there are around two who have the condition but have not been given a formal diagnosis.
It is estimated that around one in 100 children between five-years-old and nine-years-old have autism, meaning there are around 500,000 in the UK. But when researchers carried out more detailed assessments of 11,700 children, they found the true prevalence could be as high as one in 64.
This would mean that there are an additional 300,000 children in Britain with autism spectrum disorder but who have not yet been identified.
In the actual study, the researchers are careful to note some limitations that the media have not always highlighted, from the response of parents returning surveys being "quite low," to the unusualness of Cambridgeshire, described as not having a "nationally representative population since it has a higher proportion of higher social classes than the rest of the UK."
But (for starters) let's just consider the main point of the study, that there's a lot more individuals on the spectrum out there than are formally diagnosed. In the Telegraph, Baron-Cohen says that "the undiagnosed cases are likely to be at the mild end of the spectrum, are coping well with their families and may not need a diagnosis," and also that "for some families the autism label may 'raise anxieties' and be intrusive, rather than helpful."
Don't know about you, but we've certainly noted an increase in children with various diagnoses that aren't autism, but involve sensory and/or language processing issues, dyscalculia, hyperlexia, speech delays. These don't add up to a formal autism diagnosis of course but there's a sense that a number of children have "something" in the form of learning challenges, and that the "learning disability" category does not exactly cover them. Indeed, in some cases, parents (and grandparents) have been careful to explain the specific needs their child has and to note that "no, it's not autism."
And I'm reminded all over of how autism, once said to be "rare," is now being studied to determine precisely the opposite. About how, no matter where we go now, I always suspect someone else out there is, too, on the spectrum, as determined not only by how many puzzle magnets are affixed to cars.
Dora posted earlier this week about the revisions to the DSM-V definition of autism and I added a few musings. How might the "collapsing and expanding" of the spectrum affect---"collapse and expand"---diagnoses of autism? And while the unreported, or under-reported cases are said to be "mild," what exactly does "mild" (like "severity") mean?
I've a bit more to say about the study, in posts to follow in the upcoming week.
Musings on the DSM-V Revisions and "Severity"
Published May 27, 2009 @ 12:18AM PT
![](http://www.change.org/photos/wordpress_copies/879034540_9972d42db4_m.jpg "\\"Light Bedtime Reading\\" by by richardmasoner")
I've been pondering the changes to the DSM-V definition of Pervasive Developmental Disorders proposed by the DSM-V Neurodevelopmental Disorders Workgroup and discussed yesterday by Dora in her post Collapsing the Spectrum--And Expanding it Again: DSM Considerations. Dora particularly noted the workgroup's third recommendation, namely:
3) Symptom severity for ASD could be defined along a continuum that includes normal traits, subclinical symptoms and three different severity levels for the disorder.
As Dora wrote, might not "separations of severity within [the] spectrum be variable and inconsistent?" The"level" of "severity" in an individual may very well vary "across an individual's life span, depending on age, available support, and a huge number of other possible factors." The workgroup's report provides "one possible model" for a "continuum" of "symptom severity for ASD." And, for what it's worth, I can see precisely where my son is according to this particular model.
Charlie would be "moderately severe ASD" as he has "some social communication but interactions noticeably disturbed" and "frequent and interfering rituals, repetitive behaviors and fixated interests."
Collapsing the Spectrum--And Expanding it Again: DSM Considerations
Published May 26, 2009 @ 09:05AM PT
The DSM-V Neurodevelopmental Disorders Workgroup has posted a report from their April meeting with some of their considerations for changes to the Pervasive Developmental Disorders section. No final decisions have been made yet according to the report, but the recommendations, if taken, do present a departure from current criteria--and language.
The first two items from the report:
1) The Workgroup is considering a change in DSM-V that would replace the Pervasive Developmental Disorder (PDD) category with the title "Autism Spectrum Disorders" (ASD). The change would utilize a single diagnosis for the disorders currently entitled: Autism, PDD-NOS and Asperger disorder...
...
2) To better reflect the symptomatology and clinical presentation of ASD, changing the three current symptom domains (social deficits, communication deficits and fixated interests/repetitive behaviors) to two (social communication deficits and fixated interests and repetitive behaviors) is also being considered.
So, only one ASD, not three PDDs. Only two categories for criteria, not three.
The third recommendation is this:
3) Symptom severity for ASD could be defined along a continuum that includes normal traits, subclinical symptoms and three different severity levels for the disorder.
The report then goes on to give an example of one possible model for this continuum.
It's good that some of the deep issues with the current criteria (e.g., from the report "Separation of ASD from typical development is reliable and valid, while separation of disorders within the spectrum is variable and inconsistent.") are being addressed with the simplification made in points 1) and 2). But is it possible that the same problems will just resurface again from point 3)? In other words, while separation of ASD from typical development may be reliable and valid, mightn't separations of severity within that spectrum be variable and inconsistent? Thinking here especially of the high degree of variability in "severity" that often exists across an individual's life span, depending on age, available support, and a huge number of other possible factors.
Also, what will such a classification system do to the sorts of opportunities that are made available to individuals? How to stay away from the "self fulfilling prophesy" problem of because a person is given a "more severe" label, others to have low expectations of them, and therefore they are not given any opportunity or encouragement to exceed those expectations? Or, alternately, how to stay away from the issue that a "milder" label could prevent a person from accessing support they need for survival?
So many questions that directly effect so many of our lives from a bunch of words thrown together by a bunch of people few of us will ever meet--
What do you think of these three points being considered for the new version of the DSM?
Monday Autism News Potpourri
Published May 25, 2009 @ 09:55AM PT
1. Appalling: I know Katharine already linked to this in her post on Autism Awareness in Australia, but it's just so appalling that I had to point it out again, more explicitly: can you imagine thinking it's OK to ask young students to dress as a disabled person for a fundraiser? Good grief! Talk about lousy, offensive, disability simulations!
2. Equally Appalling: Also from Australia, though much more recent, and unfortunately much more impactive to people's lives, Autism Asperger Advocacy Australia (A4), one of Australia's major autism advocacy organizations, has kicked all people with an ASD diagnosis off their board. Talk about a step in the exact wrong direction!
3. Not As Appalling?: Really, I'm not picking on Australia! There's plenty of picking on to go around. Especially, it seems, when it comes to "disability awareness." NBC has put out a "The More You Know" PSA on disability awareness. With a whole section on "Disability Rights" and another on "Discrimination" you'd think they'd be savvy to avoiding terminology that is considered offensive to the disability rights community. And yet, "Others often make assumptions and judge people with disabilities without knowing the facts or getting to know the person. Suffering from a disability does not make a person inferior; all people deserve respect." Oh, you mean assumptions like that we are in fact "suffering?" Respect, as in our wishes to not be referred to as "suffering?" Um... yeah. Something didn't get edited quite right there. Anyone want to tell them?
4. More Trouble Getting Diagnosis: This lady got so frustrated by professionals being unable to diagnose her son that she was motivated to go to college and get a psychology degree in order to figure out what was going on! Her son was was finally diagnosed with Aspergers as at age 17.
5. Neither Appalling Nor Trouble; Instead, Fun!: Along the themes of peer social groups and peer mentors in which the word "peer" truly means individuals who are equal to each other (in this case, are all on the spectrum) here's a story on a group for youth on the spectrum in Ohio Valley (WV). Nice to see a group focused on having fun without having to "work on social skills" or "meet goals." There's nothing wrong with improving ones skills, but it's also important to be have time for fun, joy, and interaction on one's own terms without pressure to preform to someone else's standards.
