Archive for February 2008
Earthquake
There was an earthquake last night at about 12:56 am. It measured about 5.3 on the Richter scale and about 9 on my “oh my God!” scale. I’ve never felt an earthquake before as I’ve always been asleep. I was awake or only lightly sleeping this time. I knew what it was straight away because the rumbling and shaking was so deep and ominous and grew louder and louder.
A couple of seconds in, my partner rolled over in his sleep. I grabbed his wrist and told him to be still, couldn’t he feel the earthquake? “Are you sure it wasn’t just me rolling over?” he replied. Downstairs the dog whimpered in surprise. I lay there with my heart pounding for ages.
This morning I had a bit of a paddy when the alarm went off loudly, and my partner told me not to have a meltdown.
Failsafe Dense Wheatgerm Bread
Not failsafe for opioid responders.
One small, dense loaf weighing about 400 grams.
1 cup wheat germ
2 cups strong white wheat flour
1 tbsp baker’s yeast
1 tbsp sugar
1 tsp table salt
5 floz or 150 ml warm water
Add the water to a measuring jug. You can get the water to the right temperature by adding 1/3 boiling water to 2/3 cold water. Add the tablespoon of yeast and sugar and stir. Cover with a cloth or paper towel and put somewhere warm, like the top of a radiator. Leave for ten minutes or however long it takes to get at least an inch of foam on top of the water.
Meanwhile measure and mix the wheatgerm, flour and salt in a bowl. When the yeast is ready, add it to the flour. You may need to add extra water at this point, keep going until you get a nice consistency that isn’t too flaky or too sticky.
Add the dough to whatever tin you wish to bake it in – I recommend the flexible silicone ones for bread this dense! Then put back in your warm spot for as long as you prefer to leave it – anywhere between an hour or six!
When you are ready to bake the bread, preheat the oven to 180 degrees celsius and bake for about an hour.
Best served hot, with a slab of butter on top.
Thanks to failsafe
Today I took Jasper out to the Longshaw Estate on the edge of the Peak District. Jasper needs an hour of exercise every day now. We wandered around the moorland and I decided to head off the path and cut across country to find a freshwater spring marked on the map. We wandered into some quite boggy ground downstream of the spring. There were lots of little gurgling brooks cutting deep paths through the peat. It was quite strenuous going and a fair bit of leaping and scrambling had to be done between the streams, through the reeds, and over the hummocks of grass and boulders. It occurred to me that I would not have been able to do this walk two years ago. I would have been wiped out for the rest of the day.
Failsafe Pears and Cream
Not failsafe for very sensitive opioid responders.
To serve one.
1 pear
4 floz of double/heavy cream
Chop the pear into small cubes and add to a pan with the cream. Heat for 5-10 minutes. Add a touch of vanilla if tolerated.
Failsafe Rice Pudding
Not failsafe for opioid responders unless A2 cow’s milk, goat’s milk or sheep milk is used.
To serve one.
2 oz white rice
1-2 cups of milk
1 oz butter
1 tablespoon of sugar, or to taste
Quick method:
Add the rice and one cup of milk to a covered pan. Bring to the boil watching carefully that the milk does not boil over. Simmer on a very low heat for roughly twenty minutes, then add the butter, and sugar to taste.
Slow method:
Add the rice, two cups of milk and other ingredients to an ovenproof pan and place in an oven on about 160 celsius for an hour to an hour and a half, checking every half hour, until the milk has evaporated and become thick and creamy.
Use whatever short grain brand of rice you tolerate. The recipe works well with sushi rice as well as pudding rice. Goat’s milk can be substituted for cow’s milk. You may also add a touch of vanilla if tolerated.
Failsafe Basic Quiche
Not failsafe for opioid responders.
To serve four.
For the shortcrust pastry:
1 whole egg
2 oz butter
4 oz flour
Put the flour in a mixing bowl and cut the butter into it, then rub the two together with fingers until the mixture is a fairly consistent breadcrumb texture. Break the egg into a second bowl and whisk together. Add the egg to the butter and flour and mix together with a wooden spoon. When solid, kneed with hands. This mix tends towards the sticky side, if so, add another flat tablespoon of flour. Wrap the pastry in cling film and put in the fridge for half an hour to an hour. Then roll out with the aid of a dusting of flour and press into your quiche dish.
For the quiche filling:
5 egg yolks
1 whole egg
1-2 cups of double/heavy cream (depending on size/depth of quiche dish used)
Salt
Separate the five egg yolks and mix together with the whole egg. Add at least half a pint of cream and mix together. The total cream you need depends on the size and depth of the quiche dish you use. More cream can be added and mixed in situ.
Add any other flavouring ingredients to your dish that you tolerate in small amounts – for example, a finely chopped, sweated leek, a rasher of fried bacon, etc. Add these to the quiche dish and pour the eggs and cream over. Top up with extra cream if required, making sure to mix in.
Bake in the oven for thirty minutes on 200 degrees celsius. If you tolerate a small amount of mild cheese, grate some and add ten minutes before the end of the cooking time.
If you don’t tolerate any flavouring ingredients at all, the quiche can be converted to a custard and can be sweetened to taste.
Aspie girls
We know that children with Asperger’s Syndrome elicit from others, either strong maternal or ‘predatory’ behaviour. If the person’s natural peer group is girls, they are more likely to be supported and included by a greater majority of their peers. Thus girls with Asperger’s Syndrome are often ‘mothered’ by other girls. They may prompt the child when they are unsure what to do or say in social situations and comfort them when they are distressed. In contrast, boys are notorious for their intolerance of children who are different and are more prone to be ‘predatory’.
I was never really mothered by my peers, but I was accepted by the other girls at junior school and never really got into fights with them. I just tagged along quietly. The boys were predatory towards me. They did bully me. At secondary school things changed – girls start getting bitchy as they become teenagers, and that’s how I ended up a loner.
The fun came from setting up and arranging things. Maybe this desire to organise things rather than play with things, is the reason I never had a great interest in my peers. They always wanted to use the things I had so carefully arranged. They would want to rearrange and redo. They did not let me control the environment.
When involved with solitary play with dolls, the girl with Asperger’s Syndrome has total control and can script and direct the play without interference and having to accept outcomes suggested by others. The script and actions can be an almost perfect reproduction of a real event or scene from a book or film. While the special interest in collecting and playing with dolls can be assumed to be an age appropriate activity and not indicative of psychopathology, the dominance and intensity of the interest is unusual. Playing with and talking to imaginary friends and dolls can also continue into the teenage years when the person would have been expected to mature beyond such play. This quality can be misinterpreted as evidence of hallucinations and delusions and a diagnostic assessment for schizophrenia rather than Asperger’s Syndrome.
I didn’t play with dolls, I played with My Little Ponies. My sister and I had huge collections. We did do a lot of organising when we played. Our favourite games included ‘finding the right mummy for our new baby pony’ and ‘reorganising ponyland’. It wasn’t really about control, it was about categorising and systemising.
[T]he author has noted that some ladies with Asperger’s Syndrome can be unusual in their tone of voice. Their tone resembles a much younger person, having an almost child like quality. Many are concerned about the physiological changes during puberty and prefer to maintain the characteristics of childhood.
I used to speak in a childish voice all the time to my long-suffering partner. With me at least, it has nothing to do with puberty – though I didn’t particularly want to go through puberty. It’s a way of bypassing shyness or showing deference. I only know of two other girls who do this. One is my sister. The other is a female programmer I used to work with who I’m pretty sure was somewhere on the spectrum. She rarely talked in anything BUT a childish voice.
As with boys with Asperger’s Syndrome, they may see no value in being fashionable, preferring practical clothing and not using cosmetics or deodorants. This latter characteristic can be quite conspicuous.
That was me. I had no fashion sense whatsoever and I always wore awful clothes. I thought fashion, celebrities, pop music, gossip, makeup, were all shallow. Since then I’ve learned what a good way fashion is of ‘passing’ as normal and fitting in. I’ve even come to enjoy reading gossip magazines as a way to relax, and the aesthetics of nice clothes.
Some individuals with Asperger’s Syndrome can be quite ingenious in using imitation and modelling to camouflage their difficulties in social situations. One strategy that has been used by many girls and some boys is to observe people who are socially skilled and to copy their mannerisms, voice and persona. This is a form of social echolalia or mirroring where the person acquires a superficial social competence by acting the part of another person. This is illustrated in Liane Holliday-Willeys intriguing new autobiography, titled, “Pretending to be Normal”.
I was oblivious to the possibilities until I was in my late teens. Then I went through a phase where I came out of my shell at University. This involved me developing a close relationship with a girl on a fashion course. I emulated her style and she dropped hints that I was copying her, but she didn’t seem to mind. Under her influence I started using makeup and dyed my hair red (and pink for a while!). She did bitch and laugh about me behind my back though.
I still don’t wear makeup today – even before I developed eczema, I still hated the disgusting ‘dirty’ sensation of it on my skin.
The most popular special interests of boys with Asperger’s Syndrome are types of transport, specialist areas of science and electronics, particularly computers. It has now become a more common reaction of clinicians to consider whether a boy with an encyclopaedic knowledge in these areas has Asperger’s Syndrome. Girls with Asperger’s Syndrome can be interested in the same topics but clinical experience suggests their special interest can be animals and classic literature. These interests are not typically associated with boys with Asperger’s Syndrome.
Loves animals – check. Loves literature – check. I prefer science fiction and fantasy though!
The interest in animals can be focussed on horses or native animals and this characteristic dismissed as simply typical of young girls. However, the intensity and qualitative aspects of the interest are unusual.
My sister is obsessed with horses. I’m more of a dog person. But put me in front of any animal and I’ll usually squawk and squeal in delight. I feel a great deal of empathy for animals. A lot more than for humans – I always found most humans rather horrible, alien, and hurtful, so I’ve never had a huge amount of empathy for them.
Teenage girls with Asperger’s Syndrome can also develop a fascination with classic literature such as the plays of Shakespeare and poetry. Both have an intrinsic rhythm that they find entrancing and some develop their writing skills and fascination with words to become a successful author, poet or academic in English literature. Some adults with Asperger’s Syndrome are now examining the works of famous authors for indications of the unusual perception and reasoning associated with Asperger’s Syndrome. One example is the short story, “Cold” in “Elementals: Stories of Fire and Ice” by A.S. Byatt.
I’m ashamed to say I really was fascinated with Shakespearean sonnets when I was a teenager. I used to memorise literary quotes to pass time on the bus. And I am most definitely a writer. The fact that writing talent is noted in Asperger’s girls is a big confirmation for me.
The Pattern of Abilities and Development of Girls with Asperger’s Syndrome
What the psychiatrists said
The moral panic surrounding autism leads people to look for scapegoats in all sorts of areas. Long before the media whipped up a furore about vaccinations and mercury, autism used to be seen as a purely psychiatric phenomenon and was blamed on ‘refrigerator mothers’. Yet right from the beginning, this theory was questioned by psychiatrists… who felt they ought to blame the father.
The psychiatric literature is rife with studies of childhood disabilities in which detailed and particular attention is given to personality traits in the mother presumed relevant to the disorder in her child. [...]
This study of the fathers of autistic children was undertaken in an effort to contribute to a broader view of the family dynamics related to the personality development of the child. Special emphasis has been placed on those personality characteristics which involve the ability to form meaningful relationships with other people and which influence marital and parent-child configurations. [...]
The results to be reported are based on a careful review of the material recorded in the case histories about family structure. Since, from the first, certain unusual aspects of the family unit had been noted.
This 1956 psychiatric study of autism examined 100 families of autistic children, looking for signs of unusual personality typing in the father.
After recounting a number of cases describing adult fathers who obviously had undiagnosed, unpathologised asperger’s syndrome, the authors go on to write this:
The characteristics exemplified in these illustrative vignettes recur with monotonous regularity in 85 of the fathers in this series of 100. They tend to be obsessive, detached and humorless individuals. An unusually large number have college degrees, as do their wives. Though intellectually facile, they are not original thinkers. Perfectionistic to an extreme, they are pre-occupied with detailed minutiae to the exclusion of concern for over-all meanings. Thus, though a number are scientists, none is a major contributor to his field. They have a capacity for concentration on their own pursuits amidst veritable chaos about them. One father, in describing this feature in himself, cited as an example the prototypical behavior of his own father who, in the midst of a train wreck, was discovered by a rescue squad working away at a manuscript while seated in a railroad car tilted 20 degrees from the vertical!
Rather unpleasant put-downs and mischaracterisations aside, what we can conclude from this is that 85% of the autistic children studied had fathers with asperger’s syndrome. Being typical psychiatrists, the authors imply that it is ‘refrigerator fathers’ who are responsible for autistic children.
For purposes of comparison, a brief survey was made of the fathers of a control group of 50 private patients. These men had achieved levels of educational and professional attainment that were measurably lower. Far more striking, however, was the absence of the coldly mechanical attitude toward child rearing and the formalistic approach to marriage so widespread in the autistic group. This is to be contrasted with the total absence of overt psychosis among fathers of autistic children; indeed, only one was alcoholic and one other had exhibited an acute anxiety neurosis. This differs sharply from the experience of Bender with the fathers of schizophrenic children.
Predictably, the neurotypical children have neurotypical fathers. And the schizophrenic children have fathers who are more prone to psychosis.
At the same time, it should be noted that in 15 of the 100 fathers in this series, the usual pattern was not at all in evidence. They were described as warm, giving and devoted. While it is true that in 11 of these instances there was obvious maternal psychopathology, there remain 4 families in which neither parent exhibited such qualities.
So fifteen fathers were normal. But in eleven of those cases, there was “obvious maternal psychopathology”. I presume this means the mothers had asperger’s syndrome instead! Only in four families did the parents both appear neurotypical. Since asperger’s syndrome and autism appear to be caused by a combination of genes and increased homozygosity of those genes, it is not hard to see how those four ostensibly neurotypical parents could have, by chance, had autistic children.
The paper ends with an amusing cautionary note:
Equally disturbing for any theory of a simple one-to-one correlation between parental attitudes and children’s behavior is the observation that of 131 known siblings of our 100 children only 8 gave evidence of an emotional disorder, 3 of whom were autistic. That is to say, the fathers of autistic progeny were capable of rearing an equal number of normal offspring. Caution is indicated before implicating the characteristics of these parents too exclusively in the genesis of the disorder in their children, although it is difficult to believe that such gross distortions in paternal behavior were without effect on the development of these children.
Well, this looks like a roughly 50/50 chance of siblings having autism to me. It totally blasts the theory of refrigerator-anything as the cause of autism. It is, however, consistent with a genetic theory of autism.
What are the odds of new mutations causing autism?
This is to follow on from previous posts I’ve made about the Autism Genome Project and the two genetic theories of autism.
The “new mutations” genetic theory of autism is one pioneered by scientists such as Professors Michael Wigler and Jonathan Sebat at the Cold Spring Harbor Laboratory on Long Island, New York. This short piece from the New Scientist explains their theory:
Duplications or deletions of portions of the genome may cause many – if not most – cases of autism.
Such errors can alter the number of copies of particular genes in the regions affected. These copy-number variations are 10 times as common in autistic children as in other children.
A team led by Jonathan Sebat of Cold Spring Harbor Laboratory on Long Island, New York, examined 118 families that have one autistic child and 99 families with children who are not autistic. Ten per cent of the autistic children, but only 1 per cent of the other children, had copy-number variants in their genomes that didn’t appear in their parents (Science, DOI: 10.1126/science.1138659).
The copy-number variants tend to affect different genes in each autistic child. This suggests that autism is not caused by a single genetic defect. Clues to autism revealed in copied genes
I’ve spent most of my time recently talking about single nucleotide polymorphisms – where one letter of a gene is substituted for another letter. Here, the scientists studied deletions and duplications of genes. Deletions and duplications and variants of genes are normal, very common, and widely found in the genetic code of all human beings. What the scientists have found here is that new deletions and duplications are present in a small but significant minority of autistic children – ten percent of autistic children to be exact, whereas they are normally present in about one percent of births. This is not at all surprising, considering the correlation of low-functioning DNA methylation genes with autism.
What we have to be cautious about is concluding causation from this – deletions/duplications rarely cause any observable changes in people, and they can occur anywhere in our genome – which consists of tens of thousands of different genes. For deletions/duplications to actually have some effect on the likelihood of being born with autism, they need to occur in genes that affect personality or the brain and nervous system.
What does the rest of the scientific community think?
Much of the autism research community believes there may be roughly six major genes involved in autism, and maybe 30 others that may confer some risk. A combination of mutations in any of these genes could contribute to the likelihood of being born with autism. Largest Ever Autism Study Identifies Two Genetic Culprits
Even if we included all of the personality and nervous system genes, that’s still a pretty narrow selection of genes that would have to be deleted or duplicated in order to produce changes in the child’s personality, let alone changes that cause autism.
One of the regular genes identified in autism by the Autism Genome Project is CNTNAP2. CNTNAP2 encodes neurexins – synaptic cell surface proteins – which are involved in glutamate functioning in the nervous system and brain. According to Entrez Gene, “This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome.” That’s a lot of room for variation isn’t it?