Thursday, November 17, 2005

Autism-like findings in relatives of autistic children and the evolutionary biology of autism

I came to this reference via medlogs. It's quite fascinating. The more we learn about congenital structural and organizational disorders of the brain and mind, like schizophrenia and autism, the more oddity we see in how they're expressed. Here we learn that some structural aspects of "autism", a "disorder" that seems to be strongly inherited, may manifest in high functioning "non-autistic" adults ...
Brain deficits found in relatives of autism sufferers
Unaffected family members show characteristic abnormalities.
Jim Giles

People can have physical brain abnormalities similar to those found in autistic individuals without having the disorder themselves. These results come from two studies, which were presented at a conference over the weekend. Brain scans show striking similarities between the brains of autistic patients and those of their non-autistic parents and siblings.

... In one study, Eric Peterson of the University of Colorado at Boulder and his colleagues scanned the brains of 40 parents of autistic children and compared the results with functional magnetic imaging (MRI) scans from 40 [jf: normal, non-related] controls. The data look much like those obtained for comparisons between autistic and non-autistic brains, says Peterson. The results were discussed on 13 November at the annual meeting of the Society for Neuroscience in Washington.

Some areas of the brain region known as the prefrontal cortex were smaller than normal in the parents of autistic children, for example. This part of the brain is involved in understanding other peoples' motivations, something that autistic people find difficult and is thought to lie behind the problems they face in interacting socially.

Another typical symptom of autism is the tendency to avoid making eye contact. This behaviour was studied by Brendon Macewicz and colleagues at the University of North Carolina, Chapel Hill. He gave nine families with an autistic child and unaffected brother a digital camera and told them to take pictures of friends and family. Macewicz then mixed up the shots with images of strangers and tracked the childrens' eye movements while asking them to say whether the people they saw in the pictures were familiar or not.

Most people rely heavily on looking at the eyes when asked to complete this task. But autistic children are known to avoid the eyes and focus on other areas of the face. To Macewicz's surprise, the non-autistic siblings did almost exactly the same.

"This piqued our curiosity," he says. The team then ran MRI scans on the brothers, focussing on the part of the brain known as the amygdala. This area is involved in fear and is typically smaller in autistic people. "It was very interesting," says Macewicz. "The children showed a similar decrease in amygdala size to their autistic siblings." The difference was around 5-10%.

The results are intriguing, say the researchers, because the parents and siblings had not been diagnosed with autism. Macewicz says it is likely that in the unaffected siblings other brain areas, perhaps in the frontal lobes, are helping to regulate the amygdala and compensate for its smaller volume.

It may be that a core set of brain abnormalities has to be present for autism to occur, adds Peterson, and that the parents he studied do not have them all. He points out that some autism-related behavioural traits have previously been seen in the relatives of people with the condition, but that these current studies are among the first to show similarities in brain anatomy.
The clinical concept of "autism" is very vague. It's a"diagnosis" made by school systems, social services, psychiatricsts, psychologists, and researchers. There are children than all would label "autistic", but there's no doubt the concept is itself ill-defined. The group studied here is probably more homogenous than the general "autistic" population.

The results are fascinating. I do wonder how many of the parents would have been labeled as "autistic", were they children today.

This study lends credence to the "Silicon Valley nerds" theory of the increasing prevalence of autism -- that many high IQ "autistic" children are the result of increased rates of marriage between persons with autistic traits, who congregate in the tech indutries. It also strengthens the long suspected link between pre-autistic traits and "geekiness".

Classic autism is not a very adaptive condition in most human environments. Autistic children would probably die quickly in a harsh environment. So why is autism a relatively common disorder? We know from many, many examples in human evolution that a serious genetic disease (ex. sickle cell anemia) will persist when some of its component traits have adaptive advantage. It's very likely that some pre-autistic "traits" or genetic components have adaptive advantages.

I would like to know what the correlation of autism is in identical twins ...

Update 2/24/07: Correlation in identical twins can be very high, probably depending on the subtype of "autism":
... different studies have shown that if one identical twin has autism then there is a 63-98% chance that the other twin will have it. For non-identical twins (also called fraternal or dizygotic twins), the chance is between 0-10% that both twins will develop autism. The chance that siblings will be affected by autism is about 3%.
The population risk is supposedly about .7%, so siblings have about a 500% relative risk. The large spread in co-occurrence for twins is very compatible with diverse genetic causes; again we see that the word "autism" is used for a wide variety of distinct but unnamed disorders.

Tuesday, November 15, 2005

iPods for visually impaired users

Helpful for audio book use by the visually or motor impaired:
MacInTouch: timely news and tips about the Apple Macintosh

We also received suggestions about making iPods friendlier for elderly users:

[Dan Frakes] Laurence Mettam was looking for a 'large size external remote-control for an iPod.' Of the remote controls currently on the market, the one with the largest buttons is Kensington's Stereo Dock, which also includes an AC-powered dock base for connecting your iPod to your home stereo. Although the remote is basic -- just play/pause, forward/back, and volume up/down buttons -- the buttons are fairly large, backlit, and easy to use. You can see a picture of the remote here.

[Joe Savelberg] Laurence Mettam asked about a remote control for the iPod. Griffin Technologies produces the AirClick, which is a remote control with large buttons. Hope this helps.

[MacInTouch Reader] Regarding the enquiry about remote controls for iPods, another alternative would be to buy the new Apple Universal Dock and Apple Remote, along with any suitably-sized universal learning remote control (for example, Sony [URL below] sells a few with fairly large buttons). Then duplicate the controls from the Apple Remote to the universal remote. I haven't tried this, but in theory it should work. For thorough reviews of universal remotes, Remote Central is a great place to go.

Friday, October 28, 2005

A gene for dyslexia

At last. If this holds up the implications are vast. We will be able to clearly identify one subtype of a common learning disorder. We'll be able to identify variations in the associated phenotype, and match therapies to the gene. We will gain vast insights into the bizarre miracle of reading (note to intelligent design folks -- the evolution of reading is much more interesting than the evolution of the retina).

This gene modulates the "migration of neurons", it is presumably one of a class of genes that determines the very structure of the human brain. Alter these genes, alter that which makes a human.

Wonderful news.

Less wonderful if it becomes part of a prenatal profile that may lead to abortions. This is a future we knew was coming.
BBC NEWS | Health | Scientists discover dyslexia gene

Up to a fifth of dyslexia cases could be caused by a faulty version of a gene called DCDC2, scientists believe.

In the mutant form, DCDC2 leads to a disruption in the formation of brain circuits that make it possible to read, say the Yale team.

Their finding could lead to earlier diagnosis of dyslexia, meaning educational programmes for dyslexic children could be started earlier.

The work is published in Proceedings of the National Academy of Science.

The gene is located on chromosome six and Dr Jeffrey Gruen and his team at Yale School of Medicine believe it causes as many as 20% of dyslexia cases.

Dyslexia covers a range of types of learning difficulty where someone of normal intelligence has persistent and significant problems with reading, writing, spelling.

Up to six million Britons are believed to have dyslexia - 4% of the population is severely dyslexic and a further 6% have limited problems.

Other genes have already been linked to dyslexia.

... Dr Gruen said; "The gene itself is expressed in reading centres of the brain where it modulates migration of neurons. This very architecture of brain circuitry is necessary for normal reading...

Thursday, October 20, 2005

Reading disabilities workshop 10/26 at Groves Academy

Grove Academy is doing more community outreach. First is a series of workshops is one on reading disabilities:

Groves Academy announces the first community workshop in a six-part series of workshops focused on topics specific to learning disabilities.


Workshop: Reading Disabilities: Identification and Intervention
Speaker: John Alexander, Groves Academy Head of School, M.Ed., Harvard University
When: Wednesday, October 26, 2005, 7pm – 8:30pm
Where: Groves Academy, 3200 Highway 100 South, St. Louis Park
Admission: Free and open to the public
Registration: Reservations required. Call 952-920-6377

Workshops will be approximately one hour long with 30 minutes of questions and answers afterward. Other workshop dates are 11/29/05, 1/31/06, 2/23/06, 4/20/06 and 5/16/06.

Thursday, September 15, 2005

The evolution of attention-deficit disorder (ADHD)

ADHD trait is very common in north america. It is logical to assume that this trait has some adaptive advantages in some settings. The genetics of that advantage is being actively studied:
John Hawks Anthropology Weblog : Recent human brain evolution and population differences:

Geneticists are increasingly finding genetic variants that affect behavior. Several of these variants are now known to vary in frequency in different human populations. These alleles are two; the 7r allele of the dopamine receptor D4 (DRD4) gene is another that influences ADD/ADHD susceptibility (Harpending and Cochran 2002). The selective structure underlying DRD4 variation may be frequency-dependent, with different alleles correlating with alternative behavioral strategies that pose greater or lesser advantages in some populations.
A trait which is a disability in some educational and employment settings may be an advantage in other times and places.

Friday, August 19, 2005

Sunday, August 14, 2005

There are parts of the UK which are yet 19th century -- criminalizing the defective

BBC NEWS | Health | Tourette's children 'given asbos'

This is not the first time I've come across examples of this. The UK's legal system has some curious aspects to it; in particular certain legacies of the 19th century. One of those legacies is a very backwards approach to children with cognitive disabilities. They seem to be fairly readily shunted into the a kind of 19th century, or perhaps medieval, justice system:
In one case, a 12-year-old autistic boy was punished for staring over his neighbour's fence; another boy with Tourette's Syndrome was given his order for constantly swearing.

Because Asbos are regarded as civil matters, they are dealt with by an adult court, rather than by a justice panel especially designed for children.

This means that if the children breach their Asbos they do not have the same rights to social and mental health reports as 'criminal' juveniles (aged up to 17)...

... Julie Spencer-Cingoz, chief executive of Bibic and a trained psychiatric nurse, said children were being criminalised because of their medical conditions.

"It is a little like saying to somebody who has epilepsy 'do not fit'. And then when they do fit saying that they have broken their contract.

"You would not do that, and yet we are applying the same conditions to children with other medical conditions.
I'm not used to thinking of the US as being at all 'progressive', but in matters of disability we made such enormous progress under Bush I and Clinton that not even Bush II has been quite able to utterly undo it.