new departures

Heinrich the cello has now left the premises, and I am keeping up the practice habit with Jenny, the new cello on the block:

I am keeping up a revision rota of Bach movements, which haven't improved much since I reached peak Bach in the summer of 2021, but I still enjoy playing them, and I also need the revision to make sure I don't forget them. Here's the second minuet in G, liberated from the grip of the first minuet:

I am beginning to realise that the things I feel as raw and energetic when I play them may come across as scratchy and crude on the video. Oh well. For comparison, my recording of the same minuet with old Heinrich starts here.

Apart from keeping up with Bach, I am also learning the thumb position(s), which turns out to be much easier since I learned the essential fiddle playing. And I am trying to do something about my dismal sight reading. Long term plan: set up the world's worst string quartet.

In other cultural news, I am beginning to realise that there is a lot about Bach in the French TV series "Astrid: Murder in Paris", whose eponymous character has autism. I am learning a lot about both Bach and autism, even though I fear that it may reinforce the perception that enjoying Bach may be a symptom of autism. Will have to do a review of sorts when I'm through with the first season.

Oh and there was also a folky flashmob in the Weston Library last weekend, on the occasion of the Playford exhibition now open.

hancox

Hancox: a house and a family

by Charlotte Moore

Charlotte Moore was widely known in autism circles back in the 00s, when she wrote a regular Guardian column called Mind the Gap on her family life and bringing up two boys with autism and one without. This led to a memoir George and Sam about her autistic sons, which I also read and enjoyed, so I took notice when in 2010 she published another book about her family, this time focusing on the house she lives in and the Victorian ancestors from whom she inherited it.

I picked up a copy from Oxfam at some point, but somehow it never got to the top of my wobbly reading pile. Until we started renovating our own crumbling old house, and I wrote a blog entry about it. The clever “link within” widget that cross references my entries dug up an earlier mention of Moore’s book, which I took as a hint and actually read it.

The house as such takes up a slightly smaller role than I might have expected, but it is a suitable foundation to construct a family history narrative on, and as it happens it is also an archive that appears to hold immense treasures of written materials from love letters to furniture bills. It appears to be a family trait that no piece of paper with written information was ever thrown away. This, like many other details, made me think that the autism genes in her family may be similar to those in mine.

At the centre of the family story (although slightly aloof as he had a very busy professional life) stands the physician Sir Norman Moore (1847-1922), only child of a single mother, who twice married women from the vast Leigh Smith clan (descendants of the abolitionist William Smith, MP), which provides most of the surrounding cast, including famous Victorians such as the Arctic explorer Ben Leigh Smith, the women’s rights pioneer and co-founder of Girton College Cambridge Barbara Leigh Smith Bodichon, and, more remotely, Florence Nightingale.

Most members of the extended family are unusual for their time and social environment. We find a lifelong lesbian couple benefiting from Queen Victoria’s disbelief, a man with three parallel families in different social strata, allegedly trying to undermine the class system, several very early feminists, and lots of fraternising with the servants and volunteer work to help the poor. Although at the end of the day, when it comes to serious business like marriage, there is just as much disapproval of aspiring in-laws as in more conventional circles.

What surprised me is that in the early 20th century much of the family’s daring to be different funnels into converting to Catholicism, which strikes me as slightly at odds with the social radicalism of the earlier times. And as the “Great War” strikes, the family is at one with the zeitgeist, and nobody questions the sense of the great slaughter in the trenches, although the family lost a son in the first year of the war.

In any case, the whole, extremely well documented family history and associated social history makes for an interesting read, all the more so if you reflect how the various extents of eccentricity on display here may have funneled into the author’s autistic offspring.

As I have shown the book cover before and it is sure to resurface among the cross references below, here's a portrait of Sir Norman Moore, from Wikipedia.

miscellaneous musings

rounding up the last two months worth of German pieces, I have the miraculous interconversion of spider glue and barnacle cement, the wine diet, barcodes and autism. Here goes:

Chemie in unserer Zeit 46, Nr 1, 6
Naturstoffe: Seide aus Beton
Abstract and FREE access to PDF file

Nachrichten aus der Chemie 59, Nr 2, 111
Ausgeforscht: Na denn, prost!

Nachrichten aus der Chemie 59, Nr 2, 137-8
Blickpunkt Biowissenschaften: Barcodes für Tiere und Pflanzen

Spektrum der Wissenschaft Nr 1, 24-26
Autismus: neue genetische Fährten

plus a late arrival from last December:

Trillium Report 9 Nr 4, 211-212
Astrobiologie: Lebenszeichen aus dem All




Astrobiology diffracted through a glass of Cotes du Rhone ...

autistic genomes

Much like everywhere else in the application of genomics to medicine, the hunt for the genetic origins of autism has proven harder than expected, and the genetic variants detected still only explain a minute fraction of the cases. Recent research suggests that copy number variations, many of them occurring spontaneously in the person affected, play a much bigger role than anticipated. While de novo changes are still genetic in that they reside in the genes, they also rhyme with recent suggestions that the heritability of the disorder isn't quite as high as believed.

I've written a feature article about all this which is in the latest issue of Current Biology:

Copy numbers count for autism
Current Biology, Volume 21, Issue 15, R571-R573, 9 August 2011
doi:10.1016/j.cub.2011.07.031
abstract and FREE access to pdf file

Temple Grandin

trailer of the Temple Grandin biopic, which was shown on UK satellite TV yesterday (and I missed it):



Grandin is a household name for everyone involved with autism, following her memoir Emergence: Labeled Autistic, published in the 90s, but I guess it is a good thing to bring this remarkable life story to a wider audience, which will help raise awareness of autism as well.

There was a feature about Claire Danes, who plays Grandin in the film, in last Saturday's Guardian, which also contained some info about the film and Grandin's story.

a house and a family

The trend this summer seems to be to publish a book about the house you live in. Bill Bryson tried it, but I’ve read mostly bad reviews about his attempt to make the history of the world revolve around his Norfolk rectory.

Now Charlotte Moore, known to people in the UK interested in autism as the author of the Guardian column “Mind the gap” and the book George and Sam about her two eponymous sons with autism (she also has a son without), has a new book coming out on Thursday (1.7.):



Hancox: A house and a family. (Viking / Penguin 2010)

Judging by the snippet that appeared in the Guardian this weekend (All under one roof), I find it a lot more promising than the Bryson book. Her house has been in the family since 1888, and its inhabitants seem to have the genetic disposition to keep things, especially everything that has any kind of writing on it. (At that point I was beginning to wonder whether that phenotype is actually linked to the autism genes, or whether the author is a long-lost relative of ours.)

So using the documents and other memorabilia that her relatives have stashed away in the house for 120+ years, she traced the history of both house and family. I’m really looking forward to reading it. Maybe I can get a review copy ?

PS just discovered, there's also an appreciation of the place by her brother in the Observer: Hancox: so much more than just my home and a photo gallery.

copy number counts in autism

I recently wrote a news item for the Wellcome Trust Centre for Human Genetics, about the genetic work done on autism:

Autism genes: combinations and copy numbers

This work is mainly about finding out which genetic variants are truly linked to autism and which not. While many such associations have been reported, there is a great deal of uncertainty regarding which of these are really important for a significant number of cases.

What I also learned during my research for this piece is that copy number variations, e.g. gene duplications or deletion of duplicate copies, are now regarded as an important factor in autism genetics. As it happens, the WTCHG has another paper out in Nature online today dealing with the impact of CNVs in autism:

Functional impact of global rare copy number variation in autism spectrum disorders
D. Pinto et al., Nature (2010) doi:10.1038/nature09146 Published online 09 June 2010

For my previous pieces on autism research, click here.



photo: NHG

Asperger rocks

There was an interesting piece in the guardian last week about an emerging pop musician who was diagnosed with Asperger’s syndrome. Her stage name is Ladyhawke, and she’s from New Zealand. Album released in the UK next week.

Guardian piece

You can check out her music on her MySpace profile too.

imprinting autism

Also in yesterday's issue of Nature there is an interesting hypothesis regarding the causes of autism. While several genetic factors have been identified that cause a small proportion of the cases of autism, the large majority is still unaccounted for.

Badcock and Crespi discuss here (Nature vol 454, p 1054) their hypothesis (originally published in 2006 but I missed it) that autism might be due to a problem in imprinting, a process which ensures that of certain genes only the paternal copy is used, and of others only the maternal one. As has been discussed before, this can create a battle of the sexes, whereby paternal genes favour a big, demanding fetus (and child) at the expense of the mother's fitness, while maternal genes would tend to minimise this trend. Imprinting affects at least 63 human genes, possibly several hundred.

Badcock and Crespi suggest that autism is due to an imbalance in favour of paternal genes. They go further and say that neurotic disorders (schizophrenia etc.), which in some respects are the exact opposite of autism may be symmetrically caused by an imbalance favouring maternal genes. (Although the authors seem to be unaware of it, the symmetry between symptoms of autism and neurosis have already been discussed in the autism literature. Essentially, if you're autistic you don't care what other people think, and if you're neurotic you care way too much.)

Linking a whole catalogue of mental disorders to imprinting is a bold hypothesis, but it is clearly testable, so within a year or two somebody should be able to work out whether it holds up in practice. If it does, it also suggests treatment options that may become available in the long term.

rain woman

Sandrine Bonnaire is of course a household name for anybody interested in French films, but what I didn't know until now is that she has a sister with autism. She has made a documentary about her sister, Elle s'appelle Sabine (Her name is Sabine), which is now on release in the UK and reviewed here.

Appearing with the well-known statistical pattern of London buses, here are two other French films that promise to be interesting:

Couscous (La graine et le mulet)

Les femmes de l'ombre -- about the women fighting in the Résistance. Never mind the politics, it has Sophie Marceau and Marie Gillain, that's reason enough to see it :)

autism on the brain

Last weekend, I visited the new MEG centre here, which opened last year and aims to study brain function in people with autism. MEG stands for magnetoencephalography, and the idea is that you pick up the very weak magnetic fields that arise from the currents flowing in the brain when you're thinking. Unlike EEG (electroencephalography) you don't have to have electrodes stuck to your skin (although researchers stick a few "signposts" to the subject's head), and unlike MRI (magnetic resonance imaging) you don't have to lie inside a tube and suffer excruciating noise.

In MEG, the subject sits on a comfortable chair (my son tried it and seemed to like it!) with their head under what looks like a ginormous hair drier (although I am told it was a bit more expensive than a hair drier). Part of the special appeal to use this technique in autism, of course, is that it can be used with subjects who would not tolerate the "side effects" of either EEG or MRI. Thus, the building had to be designed to be both magnetic-studies-friendly (restricting the use of metal and the placing of electric cables!) and autism-friendly, which seems to have worked out well, as my son seemed to like the environment.

The research is led by Professor Anthony Bailey, who came to Oxford 3 years ago and did similar research in collaboration with an MEG facility in Finland before. I wrote a feature about his work for Oxford Today, which is here.


Further pieces on autism:

Gross M: Current Biology 12, No 2, R42
Battling through autism confusion
(about the 2001 MRC report)

Gross M: Current Biology 12, No 20, R679
Pursuing the puzzle of autism
A photographic exhibition at the Wellcome Trust for Autism Awareness Year highlights the continuing scientific uncertainty.

Update 2024: I have now fixed the Current Biology links, but I'm afraid the OXford Today story is no longer online as far as I'm aware.

did the Neanderthals have autism ?

The short story on the back page of this weeks Nature (vol.453, p.562) has an interesting premise: that the Neanderthals developed the "nerdy" genes which in moderate doses make you good at maths and physics, while more extreme cases end up with autism. Easy to imagine that it's the lack of social cohesion that sealed their demise when they were competing against the more politically minded (and probably aggressive) Cro Magnon. The story suggests that the presence of autism genes in our population, which largely descends from Cro Magnon humans, is due to the (debated) interbreeding with Neanderthals.

The author, New Scientist correspondent Jeff Hecht, got one detail wrong -- the autism-related genes aren't dying out, as he suggests at the end of the story (which is set in a not-too distant future). On the contrary, the technological revolutions of the last two centuries, with the huge growth in demand for maths/phys/engineering type people, has ensured that the genes have spread and autism is much more common than it used to be when it was first described.

proteins linked to autism

There is a news story on Chemistry World (not mine) about the crystal structure of the complex formed by neuroligin with beta-neurexin. Apparently, mutations in these proteins have been linked to autism.

Obviously, the crystal structure is not going to provide any quick answers about the disorder, as there are at least a dozen genes contributing to the symptoms of autism, but it's good to see things are happening at the molecular scale, and one day we might even understand how it all fits together ...

imaging autism

The Oxford Oxford Neurodevelopmental Magnetoencephalography Centre, which focuses on autism research is opened officially today, complete with royal visitor.

It is led by Professor Anthony Bailey, whose work and ambitions for the future of autism research I've described in a feature a couple of years ago.

changing lives

... oh, and I should mention that the whole venetian adventure would not have been possible without the help of the Newman Trust, a charity that took my son, who has autism, on a one-week holiday. So a big thank you to them and all their volunteer helpers. They really do change lives.