DSM-5 classification changes due for pub 05/13

[baddad]

 

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.

 

Yep! The problem is, though, that the further the 'spectrum' gets stretched the more people come into it. Eventually everyone with a cold or a bogey up their nose will be sheltering under the same umbrella as those with tuberculosis.

 

Another example might be looking at someone who has a limp and dropping all 'limpers' into the same category regardless of whether they have polio, a broken leg or a piece of gravel in their shoe.

 

I know, coolblue, that what you're saying is the cause should be investigated more fully and the real reason for the limp (or cough) determined, but to do that you have to have clarity regarding the labels that get applied and continuity regarding assessment. Both those things have gone out of the window with autism, particularly with regard to 'AS' or HFAS (heehee, I just noticed that HFAS phonetically comes pretty close to 'half-ass', which, of course, is exactly what it is as a diagnosis! How ironic!). I wouldn't ask a school dinner lady to assess me for tuberculosis, and I wouldn't appreciate it if one came up and offered her suggestion that I did have tuberculosis because she knew a woman whose daughter had it and when she heard me cough it sounded quite similar... With AS, though, that kind of casual observation will potentially lead to a parent - particularly one who is struggling to understand their child - pursuing a diagnosis. And I put that pursuing in italics because it can be quite aggressive, with a parent perhaps rejecting five or six assessments that don't confirm the diagnosis before hitting on one that does. 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

[coolblue]

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.

[GaryS]

Fragile-X yes, that's exactly why but of course there are other symptoms and effects.

 

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

 

 

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.

 

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.

[coolblue]

 

 

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

[baddad]

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

I did a quick google to try to get a shufti of the draft... found the 'Nice' and short version! Haven't read anything even close to it all (even though the edited highlights of the nice and short version are only 39 pages), but it does highlight many of the difficulties of diagnosis.

I think at the '11+' stage it all gets a bit wooly... lots of don't rule out because's. I think that is important, but also think if you 'don't rule out autism because x, y, and/or z aren't present', you can end up with a situation where not very much evidence at all exists but because you haven't 'not ruled out' the wrong conclusion is reached. I think that's happening quite a bit now, TBH. I'm trying to think of a way of phrasing that, here's a bash at it:

 

A mixed bag of 'fruit and nuts' is listed as containing 'Peanuts, cashew nuts, brazil nuts, hazel nuts, almonds, walnuts, pecans, sultanas and raisins', but the packet also says 'contents of packet may vary'. How many of those things need to be present, from a quality controllers point of view, for the packet to be appropriately labelled 'mixed fruits and nuts'? A bag with no nuts, but sultanas and raisins is, IMO, a bag of 'mixed fruit', and a bag with no sultanas and raisins is a bag of 'mixed nuts'. Something with half of the ingredients would perhaps be more accurately labelled 'tropical mix', and the labelling changed to say 'may contain a selection of four or more of the following...' or whatever!

 

What I did agree with is that diagnosis should be made by referal to a specialist, multidisciplinary ASD team, but let's face it that's a non-starter. Not because it would be impossible to set up such teams, but purely and simply because if they were set up and the assessment they reached did not match the parent's expectations it would not be accepted. 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.

 

Again, none of this applies to any individual parent or child on this forum, and I'm not suggeting that all casual, private, second opinion diagnosis fall into this category.

 

L&P

 

BD

[baddad]

I did a quick google to try to get a shufti of the draft... found the 'Nice' and short version! Haven't read anything even close to it all (even though the edited highlights of the nice and short version are only 39 pages), but it does highlight many of the difficulties of diagnosis.

I think at the '11+' stage it all gets a bit wooly... lots of don't rule out because's. I think that is important, but also think if you 'don't rule out autism because x, y, and/or z aren't present', you can end up with a situation where not very much evidence at all exists but because you haven't 'not ruled out' the wrong conclusion is reached. I think that's happening quite a bit now, TBH. I'm trying to think of a way of phrasing that, here's a bash at it:

 

A mixed bag of 'fruit and nuts' is listed as containing 'Peanuts, cashew nuts, brazil nuts, hazel nuts, almonds, walnuts, pecans, sultanas and raisins', but the packet also says 'contents of packet may vary'. How many of those things need to be present, from a quality controllers point of view, for the packet to be appropriately labelled 'mixed fruits and nuts'? A bag with no nuts, but sultanas and raisins is, IMO, a bag of 'mixed fruit', and a bag with no sultanas and raisins is a bag of 'mixed nuts'. Something with half of the ingredients would perhaps be more accurately labelled 'tropical mix', and the labelling changed to say 'may contain a selection of four or more of the following...' or whatever!

 

What I did agree with is that diagnosis should be made by referal to a specialist, multidisciplinary ASD team, but let's face it that's a non-starter. Not because it would be impossible to set up such teams, but purely and simply because if they were set up and the assessment they reached did not match the parent's expectations it would not be accepted. 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). I don't think this is exclusive to ASD's, i think it has happened many times in the past with things like dyslexia and ADHD too. In fact, for some parents ADHD seems to be 'the first rung on the Autism ladder' which they gradually barter up like Top Trumps. I think ODD / PDA add another interesting variation on this, but effectively it's the same thing with a different deck of cards.

 

Again, none of this applies to any individual parent or child on this forum, and I'm not suggeting that all casual, private, second opinion diagnosis fall into this category.

 

L&P

 

BD

[GaryS]

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

 

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

[coolblue]

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.

[coolblue]

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).

[coolblue]

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.

Edited March 24, 2011 by coolblue

[baddad]

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).

 

Yes. No. Maybe.

The no. I think the value of the diagnosis, the label, is that it gives everyone a definitive starting point. Provided, that is, that certain core features are recognised as intrinsic.

The maybe. Individual profiles, yes, but if you've got a definitive starting point, as above, then its going to suggest key areas to start looking at and save time/money/resources. Also, over time you'll have a body of evidence that relates much more accurately to 'type' than the current system where the 'type' is too broadly drawn for consistent analysis. The more precision used throughout, the more clarity there is about what strategies/interventions work and don't work and the more accuracy there can be in the allocation of resources.

 

L&P

 

BD

 

PS: different agencies, different opinions - I think where there are differences of opinion it is very important to look at them objectively (or, at least, as objectively as possible). That's the value of a multidisciplinary team. A diagnosis made by a collective of five may be subjective, but it is a lot less subjective than one made by one. And that's especially true if the 'one' is an outside agency, like a parent, or a private consultant or a school teaching assistant.

Edited March 24, 2011 by baddad

[GaryS]

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

 

That would be a very long post and not for here but I can PM you with it at some point.

 

 

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'm sorry, I don't assume that. There are a great number of autistic "traits" to use a buzz word which are far from "abnormal". I'll accept different, and those differences may cause a pathology in some social scenarios but as far as I'm concerned they are definitely not abnormal.

 

 

 

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.

 

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. 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.

 

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.

 

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.

[GaryS]

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).

Yes. No. Maybe.

The no. I think the value of the diagnosis, the label, is that it gives everyone a definitive starting point. Provided, that is, that certain core features are recognised as intrinsic.

The maybe. Individual profiles, yes, but if you've got a definitive starting point, as above, then its going to suggest key areas to start looking at and save time/money/resources. Also, over time you'll have a body of evidence that relates much more accurately to 'type' than the current system where the 'type' is too broadly drawn for consistent analysis. The more precision used throughout, the more clarity there is about what strategies/interventions work and don't work and the more accuracy there can be in the allocation of resources.

 

L&P

 

BD

 

PS: different agencies, different opinions - I think where there are differences of opinion it is very important to look at them objectively (or, at least, as objectively as possible). That's the value of a multidisciplinary team. A diagnosis made by a collective of five may be subjective, but it is a lot less subjective than one made by one. And that's especially true if the 'one' is an outside agency, like a parent, or a private consultant or a school teaching assistant.

 

I too think a diagnostic procedure is a requirement for a "disease state" without a diagnostic metric. The problem is that it needs to be very objective - hence why I wanted to cut to the chance. Over the last six months we have been appalled at the disparity between and within regions and a completely incoherent national strategy and methodology. Even with the consultation processes which are reported to have taken place there is little evidence that it is making any difference. Even where there consultations with the NAS there seems to be little cross-region agreement within that organisation which has traditionally taken the consultation lead.

[coolblue]

 

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

[Karen A]

What I did agree with is that diagnosis should be made by referal to a specialist, multidisciplinary ASD team, but let's face it that's a non-starter. Not because it would be impossible to set up such teams, but purely and simply because if they were set up and the assessment they reached did not match the parent's expectations it would not be accepted. 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

 

Specialist multi-disciplinary teams do already exist.They may well not exist for much longer and could be replaced by a much less effective system.If the Health and Social Care Bill 2011 is passed then groups of GP'S would purchase services for their patients effectively from whoever they wished to.This could be a charity,a private providor or anyone else able to offer the service at an appropriate price.The theory is that patients will be given more control.Some might argue that this could make casual diagnosis more likely.

 

http://www.parliament.uk/business/news/2011/january/health-and-social-care-bill-second-reading-/

http://services.parliament.uk/bills/2010-11/healthandsocialcare.html

Edited March 24, 2011 by Karen A

[bid]

My son was diagnosed by a multi-disciplinary team back in 1996. And then fast-forward to 2004/5 and his little brother went through the assessment process of the CDC, which again was a multi-disciplinary team (incidentally, they concluded he wasn't on the spectrum).

 

Bid

[GaryS]

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?

 

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 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.

 

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?

 

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.

 

Fair enough but that doesn't say that we need to find them either.

 

 

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

 

cb

 

"We can't solve problems by using the same kind of thinking we used when we created them.”

[GaryS]

My son was diagnosed by a multi-disciplinary team back in 1996. And then fast-forward to 2004/5 and his little brother went through the assessment process of the CDC, which again was a multi-disciplinary team (incidentally, they concluded he wasn't on the spectrum).

 

Bid

 

So you're on the spectrum, Son#1 was but Son#2 wasn't. Yeh right.

[bid]

So you're on the spectrum, Son#1 was but Son#2 wasn't. Yeh right.

 

Genuinely, he isn't...(and different dad)

 

But my dad was, and DD#1 does a spookily good impression!! But DD#2 not either

 

Mwahahahahaha!!

 

Bid

Edited March 24, 2011 by bid

[GaryS]

Genuinely, he isn't...(and different dad)

 

But my dad was, and DD#1 does a spookily good impression!! But DD#2 not either

 

Mwahahahahaha!!

 

Bid

[Mumble]

So you're on the spectrum, Son#1 was but Son#2 wasn't. Yeh right.

Seems quite feasible (if by 'yeh right' you mean, huh no - but I may be misunderstanding you). Though she'd never get a dx at this point of her life (nor would she accept it anyway) all the professionals involved with my family who have the necessary background agree it's likely my mother's on the spectrum, my brother and I are both dx'ed, but my sister is as NT as they come.

[coolblue]

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?

 

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.

Edited March 25, 2011 by coolblue

[GaryS]

Seems quite feasible (if by 'yeh right' you mean, huh no - but I may be misunderstanding you). Though she'd never get a dx at this point of her life (nor would she accept it anyway) all the professionals involved with my family who have the necessary background agree it's likely my mother's on the spectrum, my brother and I are both dx'ed, but my sister is as NT as they come.

 

Perhaps I was being a little facetious with but with no intent of offense. As far as your own family goes I think I've said elsewhere that we haven't yet found a family where if kiddy is on the spectrum then so is mom - just a little bit! Simple Mendelian genetic dictate that there's only a 1:4 change of a true hereditary probability of passing any directly attributed genes but as I've said here, the genetics must be far more complicated that; so it is entirely possible for siblings to be all intents and purposes "NT". I express it this way because of my general belief that the genes responsible are naturally (or should that be evolutionary) attempting to produce a more adaptable species.

[GaryS]

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.

 

Absolutely, but in their "defense" the only way to crack a complex problem is to break it down. They should remember that in there hypothesis however and not try to explain all buy considering little.

 

 

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.

 

I think we are converging here. Part of out hypothesis is that there is a fine amino acid imbalance in some flavours, particularly those aa's surrounding neuropeptides, I find the effects on the GUT very fascinating if we look at these with regard to the enteric nervous system.

 

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.

[RainbowsButterflies]

As far as your own family goes I think I've said elsewhere that we haven't yet found a family where if kiddy is on the spectrum then so is mom - just a little bit!

 

That doesn't make any sense at all. I presume that you actually mean the opposite of what you've written.

[GaryS]

Really - makes sense to me

 

I'll try again the other way round - We have observed (in our little enclave) that every child on the spectrum always has a mother who exhibits symptoms of the spectrum to a lesser or greater degree.

 

Have I explained that better?

[RainbowsButterflies]

Like I thought - you said the opposite of what you meant first time around

 

It's not always from the mother though - in my case my mum was almost certainly autistic (she died nearly 4 years ago so I can't speak to her about it) but I used to work with a little boy who's family were all autistic for 3 generations of males (theoretically skipping his aunt but I never met her).

[baddad]

Really - makes sense to me

 

I'll try again the other way round - We have observed (in our little enclave) that every child on the spectrum always has a mother who exhibits symptoms of the spectrum to a lesser or greater degree.

 

Have I explained that better?

 

I would say that you could observe 'symptoms of the spectrum' to 'a greater or lesser degree' in every human being on the planet, especially if looking for them (as people with autistic kids tend to do at any such gathering, particularly after a child has been newly diagnosed). That 'oooh, they say we're all somewhere on the spectrum, don't they' codswallop actually evolved from misinterpretation (well, exaggeration) of professional literature, and it's done a damn sight more harm than it has good.

I'd agree with Rainbowsbutterflies that it seems to be more often voiced by women about the men in the family, but that too arises from misinterpretation and exaggeration of professional literature and the 'male brain' theories that make every man a potential abuser and every woman a potential victim at your increasingly popular 'Cassandra Workshop', or as I refer to them 'Bolleaux and Blame Sessions.' (Actually, that's not true, I've never referred to them as that before, it came to me as I typed. I think, however, it's probably accurate to say 'or as I will from now on refer to them', and anyone reading should feel free to appropriate the term for themselves and do the same )

 

The reality of my experiences has been that every single gathering I've been to where mums of autistic children are discussing their families, the ones who don't observe symptoms of the spectrum in their husbands are rare as rocking-horse poo. I've not been in that many situations where autistic dads are present and discussing their families, but I think probably there would be a high percentage who saw symptoms in their wives, but men don't tend to discuss women in the same way that women discuss men, so you'd probably have to ask rather than the info arising naturally, iyswim.

 

L&P

 

BD

 

Oh, PS: Talking of inverting things, as you were, I'm pretty certain that if you looked at many autistic people looking specifically for 'neurotypical features' and made similar judgements you would be able to casually undiagnose thousand. I'd go a stage further, and say that if you looked very specifically at groups diagnosed in the past decade or so you'd be able to clinically undiagnose quite a few too. That's the bit that really worries me, and that's why I don't agree or like the idea that 'we're all on the spectrum somewhere', because rather than creating understanding of the diagnosis it devalues it and writes it off.

[Karen A]

Really - makes sense to me

 

I'll try again the other way round - We have observed (in our little enclave) that every child on the spectrum always has a mother who exhibits symptoms of the spectrum to a lesser or greater degree.

 

Have I explained that better?

 

If there was a simple genetic link then it would have been found by now.

I think that the answer is far more complex.Perhaps there may be some genetic factors but still impacted by some other factor and with Social and economic factors in the mix somewhere.

 

In any case I have my own theory which might be rubbish.I think that where children are identified as having ASD other family members will go on to develop ways of adapting which could easily make others think they have some degree of ASD.If this is the case where mothers are the main carers it may well be mothers who demonstrate this.

 

I know we have adapted over the last few years in terms of planning so that we are much less spontaneous than we used to be.Even though we work very hard to ensure that our elder [NT] son has all the oppurtunities available our family is still different to how it might have been if Ben did not have AS.I think this is a common issue where a family member has a disability.I think it has far more to do with family development than genetics.

 

I think the answers do not lie in observation where it is already established that a child is on the spectrum because observation is not a scientific method that can be seperated from expectations.

 

 

 

Karen.

Edited March 25, 2011 by Karen A

[GaryS]

Like I thought - you said the opposite of what you meant first time around

 

Really, still don't see it!

 

 

 

I would say that you could observe 'symptoms of the spectrum' to 'a greater or lesser degree' in every human being on the planet,

 

I'd say somewhere between 40% and 60%, depending on one of two "criteria".

 

That's the bit that really worries me, and that's why I don't agree or like the idea that 'we're all on the spectrum somewhere', because rather than creating understanding of the diagnosis it devalues it and writes it off.

 

In my world being on the spectrum does not guarantee a diagnosis.

 

[baddad]

Really, still don't see it!

 

 

 

 

 

I'd say somewhere between 40% and 60%, depending on one of two "criteria".

 

 

 

In my world being on the spectrum does not guarantee a diagnosis.

 

 

I'd agree, but I'd also add that IMO the situation has recently developed where not being on the spectrum is no longer a barriet to achieving diagnosis. Both situations are wrong, but I think a child with autism who is properly assessed would be much less likely to 'slip through the net' these days. I think the ones more likely to go undiagnosed are those who, for whatever reason, do not get put forward for assessment. And by that I do not mean children who are referred but who are assessed as not autistic

Additionally, your between '40 and 60%' I would say is very low, as the 'we're all somewhere on the spectrum' soundbite suggests.

 

If you are saying that you only observe it in 40-60% of the population are you saying you would 'classify' 40-60% of the population as autistic, 40-60% of parents of autistic children as autistic or just that 'some' symptoms would be observable (but not at a diagnostic level) in 40-60% of the population or 40-60% of the parents of autistic population?

 

Have you diagnosed someone/someones and are now having trouble getting your diagnosis of that someone/someones confirmed? I'm not assuming that's what your 'in my world' comment means, but it's a possible interpretation and I'm unsure(?) If that is the case, I'm certainly not going to 'challenge' your diagnosis(es) because I couldn't possibly know, but I would challenge your qualification to make the dx whether that dx, on legitimate investigation, was found to be appropriate or inappropriate.

 

L&P

 

BD

Edited March 25, 2011 by baddad

[GaryS]

If there was a simple genetic link then it would have been found by now.

I think that the answer is far more complex.Perhaps there may be some genetic factors but still impacted by some other factor and with Social and economic factors in the mix somewhere.

 

I don't think it is a simple link. As I've been chatting with coolblue - it's very complex (possibly one of the most complex) and I've also said I don't think there are any causative external factors involved.

 

In any case I have my own theory which might be rubbish.I think that where children are identified as having ASD other family members will go on to develop ways of adapting which could easily make others think they have some degree of ASD.If this is the case where mothers are the main carers it may well be mothers who demonstrate this.

 

I know we have adapted over the last few years in terms of planning so that we are much less spontaneous than we used to be.Even though we work very hard to ensure that our elder [NT] son has all the oppurtunities available our family is still different to how it might have been if Ben did not have AS.I think this is a common issue where a family member has a disability.I think it has far more to do with family development than genetics.

 

I think the answers do not lie in observation where it is already established that a child is on the spectrum because observation is not a scientific method that can be seperated from expectations.

 

 

 

Karen.

 

It's not rubbish, and exactly what I've been saying that depending on their immediate support, individuals develop coping strategies which will affect the level of there service provision requirement starting at zero. This one of the avenues we are trying to introduce in strategies - diagnosis without the requirement of provision.

[baddad]

 

This one of the avenues we are trying to introduce in strategies - diagnosis without the requirement of provision.

 

Gary, who are 'we'?

[GaryS]

I'd agree, but I'd also add that IMO the situation has recently developed where not being on the spectrum is no longer a barriet to achieving diagnosis. Both situations are wrong, but I think a child with autism who is properly assessed would be much less likely to 'slip through the net' these days. I think the ones more likely to go undiagnosed are those who, for whatever reason, do not get put forward for assessment. And by that I do not mean children who are referred but who are assessed as not autistic

 

I think the "much less likely to slip through the net" is very region specific otherwise I'd agree.

 

 

Additionally, your between '40 and 60%' I would say is very low, as the 'we're all somewhere on the spectrum' soundbite suggests.

If you are saying that you only observe it in 40-60% of the population are you saying you would 'classify' 40-60% of the population as autistic, 40-60% of parents of autistic children as autistic or just that 'some' symptoms would be observable (but not at a diagnostic level) in 40-60% of the population or 40-60% of the parents of autistic population?

 

I think and there is a fairly large proportion of the populate that do not have any form of autistic trait.

 

 

Have you diagnosed someone/someones and are now having trouble getting your diagnosis of that someone/someones confirmed? I'm not assuming that's what your 'in my world' comment means, but it's a possible interpretation and I'm unsure(?) If that is the case, I'm certainly not going to 'challenge' your diagnosis(es) because I couldn't possibly know, but I would challenge your qualification to make the dx whether that dx, on legitimate investigation, was found to be appropriate or inappropriate.

 

L&P

 

BD

 

I don't diagnose. I'm not qualified in any way to make any any of the assertions I have made which is why, from the outset I've said these are personal musings based upon my own observation, discussion and (limited) reading. So as far as challenging my qualification goes I plead no contest.

 

Gary, who are 'we'?

 

Sorry, I thought my PM made clear, I'm a co-founder of Jelibean. Basically me and Debi Evans (with several other trustees).

[Karen A]

I don't think it is a simple link. As I've been chatting with coolblue - it's very complex (possibly one of the most complex) and I've also said I don't think there are any causative external factors involved.

 

 

 

It's not rubbish, and exactly what I've been saying that depending on their immediate support, individuals develop coping strategies which will affect the level of there service provision requirement starting at zero. This one of the avenues we are trying to introduce in strategies - diagnosis without the requirement of provision.

 

 

As far as I understand diagnosis without the requirement for provision is currently a contradiction in terms.

The diagnostic criteria for AS specify that for a diagnosis to be given the condition must have a significant impact on the individuals ability to function.If an individual does not need any provision then they would not obtain a diagnosis.

 

As the NHS is currently in the financial state it is in there will not be any will to diagnose people who would not require any provision as there would be no point.The medical profession which does the diagnosing basis its whole ethos on diagnosis of illness.If a person does not have a condition needing treatment,investigations or input then the medical profession would not be interested.It is possible to follow many avenues on the basis of exploration,self-acceptance etc etc and I am a strong advocate of things like therapy for those who wish to use it.However most people would not expect the NHS or LA to fund it.

 

I have a son Ben who is 12 and has AS.Ben is currently doing very well at a mainstream school with support.He may at some stage decide that he copes perfectly well and does not wish to describe himself as having AS which would be his choice.Obtaining an AS diagnosis has been extremely valuable in helping Ben know who he is.However we would never have expected the NHS to fund expensive and detailed assessments had Ben not at one time required intensive support.

 

We as a family now need relatively little support compared with many on the Forum.However we are in this position because we were very fortunate indeed to be given weekly support for an hour every week plus Ben weekly support for an hour a week for three years only because it was thought Ben did not have AS.If Ben had been diagnosed with AS three years ago we would have been fortunate to obtain any support at all.

 

I apologise if I sound less than supportive.I have spent an awful lot of time reading posts in the last three years from people in desperate situations who cannot obtain support that most people would consider appropriate.If diagnosis without the requirement for provision could be introduced it would then lead to diagnosis without provision even for those most in need.

Perhaps I have become cynical.

 

Karen.

 

I thought I would add one foot note.There are those who may be interested in offering diagnosis because there will be those who would use the opportunity for financial gain.As I commented in a previous post this could be more of an issue if the current NHS bill is passed.However the people who might hope to gain from the opportunity to offer diagnostic services for AS might be only too pleased at there being no requirement to follow up or offer provision which would most impact those most in need.

Edited March 25, 2011 by Karen A

[coolblue]

 

 

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

[GaryS]

Karen- I understand that that has been the accepted policy and perhaps the social doctrine in the past but there are lots of individuals that seek a diagnosis but have no intention of need provision. There are also who are mis-diagnosed, treated and still remains confused. I no of many individuals with bipolar diagnose who are actually on the spectrum, several of whom have benefited from a revisiting the diagnosis pathway. Many individuals just feel different, parents know there children are different and simply want to know why. The fact that the current process is detailed and expensive is the fault of the system, not the condition and almost certainly because there are huge cost implications as after diagnosis comes treatment.

 

In actual fact there are many "disease states" which have routine (and expensive) diagnostic pathways which do not result in any "treatment" at all. Look ate the number of diabetics, allergy sufferers cardiac patients and many other conditions where after a series of examinations there is a diagnosis made and only advisories given.

 

A huge problem in the current diagnostic pathway and provision model is the costings based around an assumption that a figure has been put on the percentage of children being defined as SEN. We could argue how accurate that figure is, but the assumption is that each child that is diagnosed, is SEN and then needs that provision (hence cost) We're I am sitting, it looks like the diagnostic pathway has become so complex and expensive to try and protect that budget. This is the basis behind my statement that we should provide service based on need not diagnosis. It does not, nor should it take autism experts to see children in need of support and families in crisis - it never used to so why should it now? This principle also holds for those who actually are trying to abuse the system (as there no doubt is) - just because Johnny has the ADHD diagnosis doesn't mean that his parents can just sit back with better comfort on his DLA.

Edited March 25, 2011 by GaryS

[Karen A]

I think the "much less likely to slip through the net" is very region specific otherwise I'd agree.

 

 

 

I think and there is a fairly large proportion of the populate that do not have any form of autistic trait.

 

 

 

 

I don't diagnose. I'm not qualified in any way to make any any of the assertions I have made which is why, from the outset I've said these are personal musings based upon my own observation, discussion and (limited) reading. So as far as challenging my qualification goes I plead no contest.

 

 

 

Sorry, I thought my PM made clear, I'm a co-founder of Jelibean. Basically me and Debi Evans (with several other trustees).

 

All I can say is I will not be encouraging Ben to describe himself as a ''Jellybean'' [he would feel very patronised] or using the site myself on a regular basis.Everything appears to be written by one person and there is a marked lack of encouragemnt to use some of the excellent resources offered by recognised organisations such as the NAS which worries me.

[RainbowsButterflies]

Really, still don't see it!

 

I think I've said elsewhere that we haven't yet found a family where if kiddy is on the spectrum then so is mom - just a little bit!

 

 

You haven't yet found a family where if a child is on the spectrum then so is mum - that means that in no families mum is on the spectrum. You meant that in every family mum is on the spectrum, but you wrote the exact opposite - do you see what I mean now?

[RainbowsButterflies]

diagnosis without the requirement of provision.

 

I wasn't aware that there was a requirement of provision! What provision should I be expecting (in some other lifetime maybe )