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coolblue

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Posts posted by coolblue

  1. Posted · Report reply

    It's a 'tic' - well, the word you want is 'tic' - don't know if the movement is or not.

     

    This could be due to a compulsive movement - or it could be a way of regulating balance. Ds's speech therapist advised us to allow ds to move around, rather than sit still, when he was having stories read to him, because the balance system is part of the ear and activating it the part of the brain that processes balance can also activate auditory processing. Don't know whether or not her theory is right, but it certainly dramatically improved his ability to concentrate on what was being read to him.

     

    Ds moves up and down (as you say, bouncing), rather than to and fro, but he still rolls his head from side to side when he's tired - has done since he was a baby. My guess is that the best way to deal with it is to channel the movement into something socially acceptable - pacing up and down, for example.

     

    cb

  5. Posted · Report reply

     

    Maybe I've used the term wrong. I though 'snake oil' referred to something that had been shown to be a scam/not work but was marketed to people's sense of fear and desperation.

     

     

    It does mean that, but some therapies have been shown 'not to work' with autistic people in general, when there is evidence that they do have an effect on some individuals. Since autism can have different causes in different people, we need to be pretty clear about what makes an intervention 'obviously' snake oil.

     

    cb

  7. Posted · Report reply

    I have read some of Barry Carpenter's thoughts on this previously, and I wholeheartedly agree with what he has to say about the SEN system (apart from maybe children with ASDs being 'visual learners') :shame:

     

    I was aware that the number of children with complex difficulties was on the increase because of improved survival rates at birth (has been for some time). I'm just unclear as to what the differences are that he is talking about. For example he mentions children with foetal alcohol syndrome not having a parietal lobe. Given human nature I find it difficult to believe that foetal alchohol syndrome is anything new, and damage to the parietal lobe can arise due to hydrocephalus and epilepsy and strokes. I suppose I'll have to wait for the report. Thanks for letting us know it's coming out.

     

    cb

  8. Posted · Report reply

    Answering your points Coolblue:

     

    1. Prof Carpenter is a Neuroscientist, and his research has shown that extreme prematurity has a profound effect on the development of the brain, which in turn is having a profound effect on the nature of complex learning difficulties and disabilities, not seen before.

     

    Are you sure, because the only Barry Carpenter I've been able to find involved in this field has had a career in education?

     

    http://www.sst-inet.net/about_us/our_partners/academics/professor_barry_carpenter_-.aspx

     

    Do you have a link to this guy?

     

    2. Prior to 1970, children who survived either birth trauma or childhood illnesses which left them with complex disabilities were simply declared 'ineducable' and either left at home or put in an institution with no education. Since 1970 there has been a developing drive to give all children an education.

     

    Bid :)

     

    That means we've had 40 years of experience of educating children with complex disabilities. I'll be interested to see what's new about the new generation.

     

    Sorry to be sceptical, but I get a bit suspicious when people start talking about brain 'wiring'.

     

    cb

  9. Posted · Report reply

    I certainly agree that there's a need for a fundamental re-evaluation of diagnostic models and educational models, as the current ones we have are not, and have never been, fit for purpose. I wonder what they will recommend instead. :unsure:

     

    I haven't read the report obviously, but the press coverage looks a bit like the news items about the 'unprecedented' weather we had in the UK in the past winter. Yes, premature babies are surviving better and yes being born pre-term can lead to developmental problems, but I'd be interested to know what journalists think happened in the days before antibiotics and when 'childhood illnesses' were commonplace and left children deaf, blind and brain damaged on a regular basis.

     

    cb

  10. Posted · Report reply

     

     

    I think scientists will always use what they consider the most appropriate technology available at the time (which may not be the best). The only reason PKU was picked up using Ferric Chloride is that was the current technology to detect ketones - the chemical causing the smell - because ketones are commonly present in diabetic urine. The researcher needed then to find the reason for the unusual colour change he discovered. So in effect he was trying to discover the reason for the symptoms (smell) using the most appropriate method same as we would now.

     

    Except they are not looking at things like urinary peptides (or anything else for that matter) in individual children, but in potentially heterogeneous groups of children with 'autism'. I've lost count of the number of lines of enquiry that have been abandoned because of inconclusive or contradictory findings - which is what you would expect if your experimental group is heterogeneous.

     

    The point about the PKU finding was not that the guy was using that specific technology but that he was systematically testing the urine of two siblings to find out what was causing their problems, not everybody's problems.

     

    cb

  11. Posted · Edited by coolblue · Report reply

    From what I've read, there is no consistent single structure within the brain which is always involved in all flavours of autism, or in every case of the same flavour. There does however seem to be some mileage in pursuing the recent microscopic and neurological discoveries in several flavours of autism.

     

    I agree. As long as researchers aren't looking for one-cause-explains-all. If they are, this line of research will also be prematurely abandoned, like many others.

     

     

     

    If I understand you right by saying "low-level differences" you're meaning previously unknown symptoms? But so was Autism, Aspergers and everything else in DSM - it's describing symptoms isn't it? :wacko:

     

    No, I'm talking about differences in signs and symptoms at a low-level of complexity; like eye movements, echolalia, hypermobile joints. Almost all the signs and symptoms in the DSM (pick a disorder, any disorder) are at a high level of complexity. Social interaction, communication, attention, reading, writing; they are each hugely complex sets of behaviour brimming over with variables that you need to control for if you are to find out anything useful.

     

    Take something like gluten-casein intolerance. Many parents of children on the autistic spectrum have reported positive changes to their children's behaviour on a GFCF diet. But when you look at the GFCF-autism research, you find that participants have been lumped together on the basis of a diagnosis of autism, that gluten and 20-odd caseins have been lumped together as well and that individual differences in urinary peptide levels are reported but have been ignored. Even though they might be telling us about variations at the molecular level (can't get much less complex than that) they often aren't even included in the data.

     

    The individual differences could be key. If kid A can't metabolise casein A, that could have significant implications for his or her (and lots of other kids') functioning. It could result in a developmental pathway that cascades into autistic characteristics. Kid B might not be able to metabolise casein B for completely different reasons, and that could result in another developmental pathway that also cascades into autistic characteristics.

     

    The reason I cited PKU was because the cause of the complex 'mental retardation' in a sub-group of children was discovered because one mother noticed that her children's urine smelled musty, and supplied a researcher with urine samples to test. If he had adopted the methodology current in autism research, he would have got samples from a group of children with 'mental retardation' and found that their urine turned different colours when tested with ferric chloride and concluded therefore that ferric chloride was not an effective indicator for mental retardation.

  12. Posted · Report reply

     

    I've covered "abnormal" above and it's very clear that a single structure is not involved and at that gross level but there are characteristics at the microscopic and neurochemical level which can be seen to be crossing brain regions and perhaps start to explain what is going on.

     

    In whom is there not a single structure involved? In whom are there characteristics at the microscopic and neurochemical level? In all people with autistic traits? In some?

     

    Using the two examples discussed previously: Fragile X can be subdivided as there varying repeats of the causative mutation. Here the problem with FMR1 can be graded with the obligatory grey area of presentation. Yet PKU is old school "inborn error of metabolism", simple expression, although there seems to be a wide heterogeneity, the pathological cause of the disease remains as the neurotoxicity of phenyalanine. What isn't clear is whether there are other genetic substitutions etc. which present the other clinical observations.

     

    I understand that. The reason I referred to Fragile X and PKU in the first place is that neither causal factor was discovered by looking at signs and symptoms at a high level of complexity, such as 'autism' or 'mental retardation' and trying to find out what low-level genetic mutations or metabolic variations people with those signs and symptoms had in common. Both were discovered by looking at low-level differences.

     

    My main objection to environmental factors goes a long way to answer the first question (un)answered in this post. Again it goes to my suggestion of lazy pathogenic definition. Untidy, complicated genetic conditions can be signed off by adding in the "environmental factors". Environmental factors which do not provide a cause-and-effect pathology are capped with "genetic susceptibility". I'm simply saying that a number of problems from both directions are removed when researcher decides to introduce a wooly term which can't be proved or disproved.

     

    Referring to environmental factors or genetic susceptibility isn't an explanation of anything. I'm not suggesting it is. All I'm saying is you can't rule out environmental factors until they have been definitively ruled out.

     

    I always thought that scientific method was to put forward a reproducible hypothesis and then try and knock it down. Introducing either of these terms to support the other just doesn't seem good science to me, a bit like bending the original hypothesis to fit the experimental data.

     

    Well, quite. How can you develop a testable hypothesis from something as complex as 'autism'?

     

    cb

  13. Posted · Edited by coolblue · Report reply

    Every time I go to it I keep looking for Appendix C anybody seen this yet?

     

     

    Sorry, misread your question. I thought the pathway in the full version was full of pitfalls; it assumes that a subjective diagnosis can have a degree of 'certainty'; it relies on the co-operation of different agencies, and on the involvement of other services - when people in other services are often sceptical about the very existence of autism.

  14. Posted · Report reply

    The biggest flaw in the guidelines is that it overlooks what is now often the reality of a situation: the referal doesn't come because of a GP or whatever, it arises from a direct request from a parent who has already made up their mind what the 'problem' is, and is determined to get that home diagnosis rubber-stamped. And if the 'single point of entry, specialist, multidisciplinary ASD team' doesn't give that stamp then a second, third, fourth, fifth opinion or whatever will be pursued until a rubber stamp is forthcoming. And when (not if, when) it IS forthcoming, it doesn't matter where it's come from, and how cautiously it's written ('ASD traits', 'some features of ASD') the local 'single point of entry, specialist, multidisciplinary ASD team' will either have to concur, or spend time, money and resources they haven't got/can't afford on a legal battle that will probably never be fully resolved, because any resolution other than one that holds up the findings of the rubber-stamper will be challenged and appealed again... and again... and (etc). And I have seen this happen several times, not only with ASD but also ADHD. In fact, for some parents ADHD seems to be 'the first rung on the Autism ladder' which they gradually barter up like a game of top trumps. I think ODD / PDA add another interesting variation on this game, but effectively it's the same game with a different deck of cards.

     

    I agree it overlooks the reality of the situation in several ways, not just the one you've mentioned. I'm sceptical about the value of a diagnosis per se. I think it would be much more useful just to cut to the chase and draw up an individual profile for the child (the second stage they recommend).

  15. Posted · Report reply

    Yes - its one of may basic assumptions that "autism" groups a complex series of genetically controlled formation of neurological structures. A few or many of which may be expressed and affect brain function dependent on the structures it affects.

     

    How has this assumption been arrived at? What grounds are there for making it?

     

    No, not analogous to a logic gate which is an assumption as I've not hear this term before except in TTL.

     

    Assuming that everybody diagnosed with autism has a brain 'abnormality' (which I think it's fairly safe to assume because it's the brain that deals with social interaction, communication and the regulation of behaviour) that brain abnormality can have one or more of three primary origins: the neural substrate - the way the structure of the brain initially developed; the brain physiology; and the quality of information going into the brain. The information is ultimately sensory information - either from internal or external sources - and if it's impaired, because of abnormalities with sense organs for example, that impairment will affect the structure and function of the parts of the brain that process it (or don't process it, depending). In spite of the fact that many people diagnosed with autism have sensory processing abnormalities, it's always assumed that those abnormalities arise in the brain, rather than outside it. I don't think that's a safe assumption to make either.

     

     

    I'd like to hear more but I've yet to see any "environmental" link that remotely holds water as a "cause" IMO. This is a sweeping generalisation I know but it seems "environmental factors" are just an excuse for an inability to fully explain pathogenesis if you excuse the term.

     

    We can't rule anything out until it's been ruled out. And the reason we can't fully explain pathogenesis is because, IMO, everyone is after the holy grail of the cause of autism in general, rather than what is causing autism in individuals. Somebody finds an abnormal corpus callosum and looks at more corpora callosa (if that's the correct plural) and finds the others are all normal - so abnormalities of the corpus callosum are assumed not to cause autism. Then somebody discovers an abnormal cerebellum, and then that other cerebella are either normal or abnormal in different ways, so autism can't be caused by cerebellar abnormalities.

     

    Environmental factors are going to impact at every step of the pathway from genome to phenome.

  16. Posted · Report reply

     

     

    For the life of me I've never understood how a parent can feel confident about the 'final' diagnosis in those instances, but that's human nature, if you read the textbooks, so I'm probably equally capable of the same kind of thing in different contexts.

     

    L&P

     

    BD

     

    It's not just the parents, baddad. In the draft NICE guidance on diagnosis of autism spectrum disorders - all 250 pages of it - they talk about the certainty of a diagnosis. This is a subjective matching against some rather vague criteria they are talking about. They even have some complex stats relating to its reliability.

     

    cb

  18. Posted · Report reply

    That's exactly what I'm saying. The complexities of the expression of a (probably) wide number of genes produces a wide range of behaviours/physical conditions many of which may labelled as autistic or autistic like. You mention Fragile-X, it the study of this condition (but not exclusively) I think that will shed more light on what autism is all about.

     

    Why Fragile X - is it because of the nature of the signs and symptoms it results in?

     

    Although I appreciate there have been a number of Autism Dx for children who a have PKU I wouldn't say that it was causative, conditions resulting from point mutation is probably (IMO) co-committal in this process. likewise tuberous sclerosis and 15q duplications (and perhaps others) which have also been mentioned alongside autism.

     

    Why could it not be causative of autism? I get the impression that you are assuming that autistic characteristics have a common cause at some level - brain structure or function perhaps - a 'fan in - fan out' model. Am I right?

     

     

    If we consider that the "error point" is at meiosis, there may be a number of periods in transcription, cross-over or recombination at which the event occurs. Hence there may be many instances where hereditary, single point, complex repeat or insertion mutations are introduced or carried whilst the range of "autism causing" genetic constructs are either being created of passed along completely independently.

     

    That's one possibility. However, there are other possibilities. I don't think it's safe to assume that autistic characteristics emerge from a gene-brain structure/function-autistic characteristics pathway. Genetic and environmental factors could cause problems with the input of sensory information - a pathway that could lead to brain abnormalities via development and a pathway that is widely ignored in autism research.

     

    The difficulty here, is as yet we don't understand the physical changes which cause the symptoms. While there are many different observations including minicolumns, pyramid cells, short-range axons, altered synaptic receptors etc. there is no coherent and reproducible theory that can define the underlying cause, and little chance of identifying the genetic pattern.

     

     

    Agreed. And that is largely because we are assuming that all people with autism have a shared physical difference at some point in the genome-phenome pathway. Given the wide phenotype I don't think that's a safe assumption.

     

    So we are left with characterising this range of condition purely by their symptoms and trying to group them together to form a diagnosis. I think your analogy with Respiratory Disorder is a good one but not perhaps for the reason you use. If someone has a cough with discoloured sputum, another with no colouration and still another without congestion does this mean there are three different Dx required?

     

    You can categorise signs and symptoms at different levels of complexity. 'Respiratory disorder' - a diagnosis at a high level of complexity - is fine for some purposes - hospital admin or a press release for a celebrity. However, you would want to get to a lower level of complexity in order to treat the disorder. A GP might make a diagnosis by exclusion of a viral infection, for example. That's more specific than 'respiratory disorder', but it doesn't tell you what virus is involved. Most of the time you wouldn't need to know. If it's important - there's a serious viral infection going round and you need to know about cases - then you could go to a lower level of complexity and identify the strain of virus.

     

    You would make a distinction between groups according to specific symptoms only as a provisional measure until you had figured out the cause of the symptoms. It could be that they all have the same cause - or that the causes are different.

     

    I have no problem with 'autism' as a label indicating the type of behaviours involved. However, a diagnosis at this level of complexity is no use whatsoever when it comes to supporting an individual - you would need to know precisely what that person had difficulty with and what their health issues were. Nor is it any use for research purposes - if you are investigating specific low-level traits like lack of eye contact or echolalia. In such cases you would want to look for sub-groups within the autism diagnosis.

     

    Going back to PKU - it wasn't the 'mental retardation' outcome of PKU that led to the discovery of its cause - it was the musty smell of the children's urine that led to urine samples being investigated. If all children with 'mental retardation' had been investigated as a group, PKU would still be undiscovered, I suspect.

  19. Posted · Report reply

    Ah! co-morbid... IMO an artifact of classification. My model is that they are all varying presentations of the same range of genetic code. The classification system (which is how we got here) identifies them as different (behaviourally) so when they present together they must be co-morbid. IMO Poppycock! That's like saying there are two colours red and blue. Purple things are actually red co-morbid blue or visa-versa. My basic premise is that all of the spectrum of conditions can be presented to a differing degree. It is DSM and everyone else's attempt to classify them as separate entities occurring together?

     

     

    The three behavioural domains that make up 'autism' are all highly complex. That means that there are many potential routes to their disruption. Sometimes a single gene can express itself in many different functions. Sometimes the expression of many genes converges on a single process. Depending on the processes a gene is involved in, it's possible for one gene to cause autism (as in PKU or Fragile X) or for several genes to cause it.

     

    The problem is with the concept of 'autism'. Yes, some people do meet the criteria for autism, but that doesn't mean they have 'a' condition which we happen to call autism. What they have is outcomes of their gene expression or physiology that result in disruption to certain aspects of their behaviour.

     

    A diagnosis of 'autism' is akin to a diagnosis of 'respiratory disorder'. There's no doubt that patients with respiratory disorders could all have a cough, difficulty breathing and fluid on their lungs. It doesn't mean they all have the same thing wrong with their breathing apparatus. 'Respiratory disorder' is a useful label for some purposes, but no self-respecting medic would stop there when trying to find out what was causing a patient's health problems.

  20. Posted · Report reply

    The recent NICE guideline

     

    http://guidance.nice.org.uk/CG/Wave15/78/Consultation/Latest

     

    says that 60 medical conditions are associated with autism. Gillberg & Coleman in " The Biology of the Autistic Syndromes" (1992) list dozens of such associated conditions documented as co-occurring with a diagnosis of autism. I know 'associated with' doesn't mean 'causing', but since the conditions include abnormalities in all but three chromosomes and a bunch of viral infections you do wonder. What concerns me is why possible links between known medical conditions and autism are no longer the focus of attention, as Baddad points out.

     

    cb

  22. Posted · Report reply

    The reason I object to "Disorder" (in it's medical sense) is that it implies abnormality. It may be semantic but it's the connotation that the autistic viewpoint is in some way automatically wrong. Autism (in it's strictest and purest sense) seems to me to be a subconscious selfish condition processing the sensory inputs to the best benefits of ones self. The altruistic possibilities may or may not be assessed but ultimately the net effect is self-beneficial. Now we may argue this as being detrimental to wider society and in which case it is outside the norm hence abnormal - but this doesn't mean wrong (to me anyway).

     

     

    I think there are real problems in trying to define autism in its 'strictest and purest sense'. Autism is a construct invented by a psychiatrist (Eugen Bleuler) to describe the self-absorbed characteristics seen in schizophrenia, and later applied to two groups of children by Kanner and Asperger. In Asperger's cases the children were very similar to each other in their behaviour; in Kanner's cases they were very varied. The reason both of them thought that the children's difficulty with social skills was a core issue was because both Kanner and Asperger were using a psychodynamic model of human behaviour, in which social interaction was a central feature. Kanner saw the children's difficulties in feeding as infants as part and parcel of their social interaction. Nowadays any language difficulty experienced by a child that had previously had such difficulty suckling that they had to be tube-fed would not be attributed to a problem with social interaction (I hope!), but to a physical problem, possibly with the facial nerves or muscles.

     

    The physical characteristics that accompany the behavioural features of autism are essentially overlooked because autistic spectrum disorders/conditions are defined in behavioural terms and classified as 'mental' disorders. This is not a satisfactory state of affairs in my view.

     

    cb

  23. Posted · Report reply

    I have difficulty with all the classifications as the condition is so clearly a diffuse spectrum.

     

    Me too.

     

    Since the initial behaviour descriptions by various psychologist there has been a number of "new" conditions and researchers are continually respecifying and coming up with tweaks to DSM which explain slight alternate specificities as separate "disorders".

     

    The problem I have is two fold; firstly I don't think autism has anything to do with learning difficulties. The second is that a number of conditions, which may currently be classified as different according to the various DSM classifications, will eventually be brought under a more general the ASC (PDD) umbrella.

     

    Autism is a description of certain aspects of behaviour. The same genetic disorder could underlie both the autism and the learning difficulties in some people.

     

    This basic for these suppositions are based around my prediction that most of what we are currently describing as behavioural problems/differences will be identified as a series of genetically derived neurological differences. Almost certainly a complex series of genes will be involved and it will take some advances in genetic mapping but I genuinely believe this will happen - it has already begun. I also believe that a series of genes will also explain what we call learning difficulties, expression of which obviously occurs in conjunction with those expressed with autism. Once we are able to identify these genes we will be able to classify with accuracy.

     

    The crux of what I'm saying is that the difficulties we have in understanding Aspergers or ASC or PAD or ADD/HD etc etc etc is that the method of classification is at fault not our understanding of the condition. Once we can "measure" the "reason" for the condition, only then I think condition can accurately be labelled and understood.

     

    I think the method of classification is at fault AND our understanding is at fault if we assume that a descriptive term for aspects of behaviour is necessarily a symptom of a distinct, single condition.

     

    I find using IQ to separate functionality for this type of condition very, very wrong and has lead in the past and continues to lead to incorrect understanding of ASC.

     

    I was stunned to find IQ still being used as a measure of anything - the sub-tests are useful, but the overall score is more or less meaningless.

  24. Posted · Report reply

    Yesterday I took my son went to the hospital for a play session. The Dr's have been to visit us at home a few weeks ago.To be honest I wasn't really sure what to expect. I was asked to sit and watch and answer questions if needed.

    There were two Dr's one just sat and watched and wrote notes. They other Dr sat with my son and played some games. I didn't think he would interact with the Dr as much as he did, but he did it with his own agenda. She tried to engage him the toys. but all he kept doing and repeating " putting him in the trunk" I counted 42 times it was a girl doll. Is it the norm for ASDs to use the term "he" all the time even when its a woman/girl?

     

    Hi kelly

     

    Making errors with pronouns is common in autistic spectrum disorders. So is repeating the same phrase over and over.

     

    Other games included an imaginary game where she wanted him to pretend to brush his teeth. He didn't have any interest and couldn't do it, however when she got out some soap and a towel and asked him to wash his hands he proceeded to say "I'm cleaning" while

    he was wiping the table with the towel. the Dr also tried to tell him about her pond at home with frogs my son didn't have any interest in this and ignored her. He didn't answer any of her questions at all.

     

    So is not answering questions or changing the subject or talking about things you've never experienced (the frogs in someone else's pond).

     

    One big thing I did notice was he didn't give eye contact and he looked around the room as in a daze, as well as when she was trying to speak to him. This was very new to me I haven't seen him do this. I found that hard to watch.

     

    And visual and auditory processing difficulties. He was in a new environment with someone he didn't know and quite likely experiencing sensory overload.

     

    They are going to visit him next week to see him with his peers. So things are moving along.

    I hope it went well I'm not sure does anyone have any comments as it would be much appreciated. Thanks

     

    I'm glad they are getting on with the assessment. It sounds as if they got quite a lot of responses from your boy, so will be able to form a clear picture of his areas of difficulty. If it's any consolation he sounds exactly like my son at the same age, who is now a quirky 12 year-old with a lot of issues to cope with but great company and bright and entertaining with a dry sense of humour. This was a kid who said nothing at all some days when he was little and never showed much interest in anything except books.

     

    Actually, he's still not interested in much apart from books.

     

    Hope it all goes well next week.

     

    cb

  25. Posted · Report reply

    Hi Cait

     

    A diagnosis of an ASD is an *exclusion* diagnosis. That means it's a label applied to the child's symptoms after conditions known to cause autistic characteristics have been ruled out. It isn't a diagnosis in the same way that, say Down syndrome or Fragile X is a diagnosis, it's a label that says 'this child has these kind of symptoms but we don't know what causes them'.

     

    Before my son was diagnosed with ASD his paediatrician gave him a battery of blood tests to rule out other conditions - which is what should happen, because there are at least 60 known conditions associated with ASD-type symptoms. It's important to rule these out, because if a child has a known genetic or metabolic disorder, then doctors will be aware of other health issues associated with them, and will be able to offer appropriate advice, support and treatment.

     

    cb

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