A new national strategy for screening for Down syndrome in Denmark has halved the number of Down Syndrome births and led to a 30% increase in infants diagnosed with the condition. The Danish National Board of Health issued guidelines for prenatal screening and diagnosis for Down Syndrome in 2004; these guidelines (from Science Daily)

included the offer of a combined test for Down Syndrome (based on combination of maternal age, plus serum and nuchal screening) in the first trimester. This test gave women a risk assessment for Down Syndrome at an early stage in the pregnancy. Women whose risk was higher than a defined cut off were referred for invasive diagnostic tests (chorionic villus sampling or amniocentesis).

The study is published in the November 27th British Medical Journal.It was recently reported that births of children with Down Syndrome are increasing in the UK. While most women who receive a prenatal diagnosis of Down Syndrome still choose not to have the child, more are now deciding to.

Carol Boys, chief executive of the [Down's Syndrome Association], had not expected the rise in Down’s syndrome births. “It seems to show that more parents are thinking more carefully before opting for prenatal screening and termination – that being born with Down’s syndrome is being seen in a different light today,” she says on the programme.

Substitute “autism” for “Down Syndrome” in this post—-consider the increasingly widespread use of genetic testing even for things like what sport a 2 1/2-year-old should start to train for—and you know we’ve got some seriously difficult questions ahead of us.

I think this is, potentially, the perfect t-shirt for Charlie.

Yes, I’ve ordered him one.

Jonathan Reyes is 7 and lives in Sylmar in Southern California—-his family lost their house in the recent wildfires in Los Angeles County. Joshua is autistic and his family has been, amid everything else, especially concerned about what the impact of losing all that was familiar to him will mean. Yesterday’s CNN described the family visiting the ashes of their house of ten years:

On Tuesday, they brought Jonathan to the site of their home to see if any of his cherished Hot Wheels cars survived the fire. And maybe, they hoped, seeing the house would help their son understand.

“One of the first things he asks is, ‘Are we coming home today?’ ” said Jan Reyes, Jonathan’s mother. “Now that he sees this, maybe it will bring closure for him.”

As they drove to their house, instead of trees and a neighborhood, they saw a valley of metal and ash.

Pulling on heavy-duty gloves and strapping on masks, Jonathan and his parents shuffled through the debris searching for one of the boy’s treasures — his Power Wheels, a beloved blanket he always sleeps with or maybe his tricycle.

A favorite toy is like “a familiar anchor in the world” “for a child with autism, [Lynda Geller, a professor of child and adolescent psychiatry at the New York University's School of Medicine] said. It can comfort the child when their world is in flux.

“We’re going to try and find your cars, OK?” said his mother. Jonathan nodded.

Shards of glass and pieces of their home crackled underneath their footsteps. Pieces of an air conditioner, the skeleton of a jukebox, molten bed frames, Christmas ornaments jutted from the ground.

“There’s nothing here. There’s nothing here,” Augustine Reyes said, holding a gutted time capsule that once held Jonathan’s baby tooth, their family photos and baby photos.

“I guess everything’s gone.”

CNN reports that the family found the frame of Jonathan’s tricycle in the rubble, and that he sighted a small metal square that was once part of one of his HotWheels cars.

A familar environment and familiar objects all in their familiar places, the nooks and crannies of a house: These are essential for my son’s need for order. We’ve moved several times in Charlie’s young life and, while he’s always been able to adapt to a new place to live, it always helps to have the old usual stuff: the rolling office chair my parents bought for me from the Price Club when I was just starting grad school, the pink IKEA footstool that’s served as a chair, table, oversized plaything, and much more over the years, his bed and various fleece blankets.

And then, we’ve moved so much that I think the three of us have just gotten used to, as Jim says, “traveling light,” and to having a bag packed with a couple of things. Charlie himself keeps his old blue backpack packed with his duct-taped-up ghost photo bucket and some old picture books: He still always loads this into the car when we go on anything longer than a trip to the store or other short errand and I suspect that, if we lost everything else, it’d be enough to have that backpack (with a few more things, like his Leapster and a certain blanket, stuffed in).

Jonathan’s parents note that, so far, he’s taking it better than them, though maybe because the full impact of their loss has yet to really sink in. Mattel has said that it will donate new toys for Jonathan and hope they come, real soon.

So what is autism?

Chances are, if you’re reading this, you know, and are quite prepared to explain at the drop of the hat “what autism is.”

But what if you’re asked:

Why is there this separate term, “PDD-NOS”?

What is child disintegrative disorder and what does that have to do with autism, plain and simple? (as if there is such a “plain and simple autism”)

If a child has Fragile X, that means they don’t have autism……right….no….which?

Does “high-functioning autism” mean “Asperger’s Syndrome” only?

What’s the connection between autism and ADHD? Can you have both?

Can where you are and what culture a child is raised in influence diagnosis?

Is autism necessarily a life-long diagnosis?

These are just some of the questions and topics posed in a November report from the DSM-V Neurodevelopmental Disorders Work Group, written by Susan Swedo. The report is available via the website of the America Psychatric Association; more about the “future manual” of the DSM-V can be read here and go to Unstrange.com for an overview of how the diagnostic criteria for autism have changed through the years.

I gave a talk about autism to the Sociology Club at my college yesterday; one topic I discussed was how official definitions and our understanding of autism have changed over the years (however aware we are of this or not). I talked about theories of what causes autism; of the concept of an autism “spectrum”; about the need for including autistic individuals in schools and communities and not shutting them away in institutions; about my own experience taking care of my son and our search for the right school for him; about a family in China’s search for an education and therapy for their son as depicted in the film Children of the Stars and how is autism diagnosed in other countries?.

I only had a lunch period (not even 50 minutes; everyone had to run off so as not to be late for their 1pm class) and I felt as if I were putting out a lot of information, without really connecting it. In retrospect—especially as I reviewed the questions still being considered about autism spectrum disorders by the Neurodevelopmental Disorders (ND) workgroup—I started to think that maybe that’s just part of what happens when one tries to define and categorize “what” my son has and what he is; to find abstractions and generalizations for the specifics of one child I spend my days with.

The DSM revisions matter as they’ll have an impact on the services and therapies a child might “qualify” to have, based on what particular diagnosis a child is given. Even as we finesse the criteria and hone our understanding, and our categorization of “what” constitutes a diagnosis or not, will we lose the sense of some kind of common ground provided by the concept of an “autism spectrum”—or is this ground not so common as it might appear to be?

h/t to j/m

Sunday I wrote about singer Pip Brown aka Ladyhawke, who has Asperger’s Syndrome; a profile of her in the Independent noted how having Asperger’s is one reason that live shows aren’t the easiest for her.

Another musician, singer Craig Nicholls of The Vines, was diagnosed with Asperger’s four years ago: It’s been reported in Reuters via the Calgary Herald that the band has had to cancel their upcoming shows “due to a deterioration in the mental condition” and the “erratic behavior” of Nicholls. Some news sources refer to him as having a “mental illness” though what he has is Asperger’s syndrome—-the singer was diagnosed with Asperger’s after “abusing fans and assaulting a Sydney photographer.” Asperger’s shouldn’t be conflated with “mental illness”—doing so suggests that someone on the spectrum is “crazy” and that’s not the case—  and hope that Nicholls can get the care he needs.

Teachers need autism training, as Cam Ward writes in the November 11th Shelby County Reporter (Alabama). Ward suggests that one way to provide teacher training is by making use of ACCESS, a distance learning infrastructure. Yesterday’s Guardian also highlighted why there’s an immediate and seemingly ubiquitous need for training teachers about teaching autistic students. A report from the University of Birmingham’s Autism Centre for Education and Research “shows that too many teachers and support staff are unfamiliar with the needs of autistic children and struggle to teach them effectively”:

…….instead of recognising the atypical development of children and young people on the autistic spectrum, teachers tend to view them through a “typical lens”, comparing their behaviour with children who do not have the condition. Some, like Ieuan’s teachers, believe they can force autistic children to behave as other pupils do, or that it is a condition that they will grow out of.

There is also general confusion about autism. Teachers do not realise, for example, that the challenging behaviour can be accompanied by high intelligence.

One father describes in the report how his seven-year-old son, who has Asperger’s syndrome, another condition on the autistic spectrum, has been deemed to be “too bright” for support, and yet “he can’t work with other children and he struggles to understand some instructions”.

The report says that autistic pupils make the most progress when teachers provided an individualised programme that addresses specific social, personal and learning difficulties.

A perceived, or otherwise, lack of support from school often leads to difficult relationships between the child’s home and teachers. The study finds that parents are often left to fight alone for the right education for their child and to deal with the effects of autism, leaving them “emotionally and physically exhausted from the constant demands and the harrowing situations they experience”.

That all sounds familiar and even applies to some more recent experiences we’ve had with Charlie’s education, and we live in a school district that families move into because of its services for special education and autistic students.

No question that the prevalence of autism has increased significantly in the past couple of years. Rod Welford, the education minister of Queensland (Australia) attributes the rise in his state—which is, according to the Australia Broadcasting Corporation, “much higher” than in other states—–to “over-” and “mis” diagnosis. Parents, says Winter, are seeking an autism diagnosis falsely, so their children may “receive more resources from the Education Department.”

Talking about “over-” and “mis” diagnosis of autism seems quite opposed to the argument that rise in the prevalence rate is due to a better understanding and identification of autism, and to better diagnosis—-somehow I don’t think families would go to all the trouble of having a child evaluated and diagnosed “just” to get “more resources.”

An autistic man, Karl Tilcock, who also has two autistic children, lost his job at Foster’s brewer in Queensland (Australia) over YouTube videos made under the name AustDingo that offended his employer. The September 8th News.com.au describes Tilcock as an “online comedian” and notes that he has removed the offensive videos when contacted via letter by his employer. It’s contested whether the videos presented “untruths” about Foster’s and whether they were made while Tilcock was at work:

[Tilcock] denied any of the videos communicated untruths or were produced on his employer’s time.

“They never argued the facts on me, just that it didn’t make the company look good.

“I’ve had to fight a lot more (because of the autism) and take time off to care for my family and the company didn’t like it,” he said.

“I did my job.”

A Foster’s spokeswoman said Mr Tilcock was warned repeatedly about making videos in violation of company policy, and the backdrop of some videos showed he was at work when he produced them.

“We re-explained the rules to him after the initial warning,” she said.

“He was making disparaging remarks and defaming the company.”

Mr Tilcock admitted making a video ridiculing a manager.

“I’m struggling. It’s hard at the moment,” he said. “I think it’s gone past the point of getting my job back.”

Am also concerned about how Tilcock’s family and his autistic children are doing, without their father having a job?

Yes, we’ve been on vacation; meanwhile, the usual back and forth about vaccines and autism rages: CBS news say they’ve unearthed “details of a third case of vaccine injury in a child born in 1974″—as Kev’s noted, Kathleen Seidel described this same case five months ago on the Neurodiversity blog, CBS news is catching up in these dog days of summer.

No mention of autism and vaccines is complete without a nod to mercury: Translating Autism reviews a recent study in Journal of Toxicology and Environmental Health, Part A, entitled An Investigation of Porphyrinuria in Australian Children with Autism. Here’s his summary:

The study examined urinary porphyrins as a measure of mercury exposure in children with autism. Porphyrinuria, or the excess urinary excretion of porphyrin, is purported to reflect heavy metal exposure and in particularly mercury. Two previous studies (Nataf et al., 2006, and Geier & Geier, 2007) used this urinary measure and reported increased levels of porphyrins in children with autism when compared to typically developing children. In the current study the authors examined urinary samples of 41 patients with ASD (detailed diagnostic procedure information was not provided). The age of the sample ranged from 1 to 16 (average 6). There were 30 boys and 11 girls. The authors did not include a control group. That is, no local comparison group of typically developing children was used. Instead, the authors compared the levels of porphyrins of the Australian sample with the control samples (typically developing kids) used by the two previous studies as well as to ‘normative’ laboratory ranges obtained from a French laboratory and the normative ranges published in a 1996 European study (Minder and Schneider-Yin, 1996).

The authors reported that the ratio of uroporphyrin to coproporphyrin (CP to UP) was significantly higher in the Australian ASD group when compared to all control samples of the previous studies.

All that this study proves, as Translating Autism points out, is that there is a “strong difference in the CP to UP ratio between the Australian sample and typically developing children in the USA and France” and that is all, not that mercury causes or is linked to autism.

Remains to be seen how others “read” these results.

Can you imagine having this said to you?

“One family I met took their child to the doctor and the doctor said: ‘If he was a dog you would put him down.’”

As quoted in the February 7 Campbelltown-McArthur Advertiser (Australia).