View Full Version : Genetics of dyslexia. . .


Amtram
06-13-13, 07:10 PM
Yale researchers have come across specific genetic variants that look like they predispose children to dyslexia and other linguistic disorders. Researchers unravel genetics of dyslexia and language impairment (http://medicalxpress.com/news/2013-06-unravel-genetics-dyslexia-language-impairment.html) outlines a relationship between dopamine regulating genes with other genes strongly associated with language performance. Interesting in itself, but also potentially helpful to any child with a language or reading impairment, because it could be used for earlier diagnosis and treatment interventions when they are most effective.

atSWIMtooboreds
06-13-13, 07:43 PM
Wow, this is great. I am going to have to read really deeply into this and see if it relates at all to the language issues in ADHD that I've been wondering about.

Amtram
06-14-13, 02:58 PM
You might also want to look into language processing in the brain. Our primary language processing takes place in the left hemisphere, but it's influenced by the connectivity with the areas of the right hemisphere that make associations between images and words and between images and one another.

A while back I had shared some information about that connectivity and how it affects language, and how it seems to function differently in people with ASD. I don't know if it's still here, but I did put a couple of links in the Educational Materials sticky about the right brain that were relevant to this.

The article didn't say what the language performance genes did, besides being associated with dyslexia and language development, but it might be interesting to look into OMIM to see what we know.

SB_UK
06-15-13, 03:58 AM
From the article in the OP - this is very interesting:
In further non-genetic studies, they found that prenatal exposure to nicotine has a strong negative affect on both reading and language processing.By the same authors:
Prenatal exposure to nicotine and impaired reading performance. (http://www.ncbi.nlm.nih.gov/pubmed/23122624)There's only one real point that I'm making on the forum - and translated onto this thread - that point'd be ... ... is 'smoking' a measure of 'psychological stress level felt' - by parent ... ... that is - is it the nicotine/smoking - or the underlying psychological stress the parent is under - which is giving rise to issues relating to speech/language processing ?

Without conducting too rigorous a literature search - this idea is represented within standard scientific literature:
eg http://www.ncbi.nlm.nih.gov/pubmed/12696841
Do stress and negative affect (NA) promote smoking? -*-

And so ... ... ... and sorry to be so repetitive - but the aetiological nature to disruptions of language development - from a fairly standard line of scientific thinking - could simply relate to stress sensitivity in parent in interaction with level of stress parent is under.

High stress in stress sensitive person -> very poor outcome
Stress in stress sensitive person -> poor outcome
High stress in stress insensitive person -> poor outcome
Stress in stress insensitive person -> No consequence

SB_UK
06-15-13, 04:16 AM
And continuing the basic idea I'm presenting - there's no real benefit in any other approach to this problem - than preventing it from occurring in the first place.

Prevention not cure.

SquarePeg
06-15-13, 04:38 AM
I havenīt read the article yet, not good at clicking on links and trying to understand science. My son is dyslexic and has language processing problems as well as ADHD. His father is even worse though. At least my son can make an educated guess about how to spell a word, like "laugh" he may spell as "larf", ok not to bad, but my husband will spell it something like "raf" or something equally bizzare. It seems he canīt process sounds well.

SB_UK
06-15-13, 04:46 AM
You can't change your genes - can only change our environment - that's the very simple core flaw underlying genetics/genomics within a medical context.

Which isn't to say that there's no point in genetics/genomics research to work out how we 'tick' in a normal healthy, physiological state - but that info. is just if people would like to have a more detailed knowledge of our underlying mechanism.

SB_UK
06-15-13, 05:16 AM
Shockingly significant patterns of co-morbidity between every single 'major' disease I've looked at - really does point to a common aertiology.

Have never previously looked for this particular association before - but there it is !

http://www.ncbi.nlm.nih.gov/pubmed/20721770
Comorbidity of attention deficit hyperactivity disorder (ADHD) and reading disorder (RD) is frequent. Dead easy to solve the problem if we look at other epi studies:
http://www.ncbi.nlm.nih.gov/pubmed/23400216
Our results supported the association between ADHD and allergic/autoimmune diseases. ADHD -> <- RD
ADHD -> <- allergic/autoimmune diseases
ADHD -> <- obesity

eg (http://www.ncbi.nlm.nih.gov/pubmed/22120761) "A clinician should be aware of the significant risk for a child with ADHD to become overweight and for an overweight child to have ADHD."

-*-

Given as objective a stance as I can muster - there's only 1 issue underlying human disease - and continuing the idea developed on APSJ's thread yesterday - I think we're looking at something as simple as the anterior cingulate cortex and anterior insular cortex representing the transition of the mind and body (respectively) into the 'material' world - whereby stress in either the mind (fear of survival) or body (actual physiological distress eg having no food) results in these two areas (AIC-physical stress ACC-psychological stress) (respectively or together) ... ... triggering a chain of events which 'break' the individual.

It's really interesting that Francis Crick identified the ACC as critical in the mind:body connection -
the problem with mind is that we all know what psychological stress is - but we can't get a 'grip' on mind - ie see what it represents
- but what we do know is that there must be a connection between the mind and the physical body (mind:body connection)
- has to be a connection - because the mind can alter how the body behaves ... ... ...

What we're (for the most part) looking at - in the diseases of Western living - is screaming out to be acknowledged as the 'mind' exerting itself through the anterior insula / anterior cingulate cortices driving system-wide pain/inflammation -> underlying disease.

It's tragic that the single most important thing to man (the mind) is 'off-limits' to empirical science - but we can recover the situation by finding the point of connection between mind and physical body - that is - find a 'place' within the brain which we can study - which we can use as an indicator of psychological stress - of the mind being placed in an unacceptable (which I'm using to indicate immoral to its own construction) context.

Immoral to its own construction - is meant to indicate how morality is dependent on the state of understanding of the mind.

Once upon a time, I believed that genetics/genomics was of use in overcoming disease.
With increasing information, I know believe that genetics/genomics is of no use in overcoming disease.

And so - what once was NOT immoral - becomes immoral with 'mind' -
- so we're looking at the development of a psychological stress reaction at two different points of life (pre- and post- development of mind) when engaging in the exact same task.

What's the problem ?
Well chronic stress is a 'one way ticket to nothingness'.

SB_UK
06-15-13, 05:34 AM
Just checking ... ... ....

http://www.stresshacker.com/2010/12/stress-hardware-review-anterior-cingulate/
The normal functioning of the anterior cingulate area leads to a normal response to stressful events, which is a psychophysiological arousal or increased emotionality.

And returning to a key idea described many times before -
- it's relatively easy to see the behaviours we associate with ADHD as a grossly exaggerated reaction to stress.

SB_UK
06-15-13, 05:41 AM
And finally:
we've the recent publication looking at heightened stress leading to cortisol resistance underlying inflammation which underlies the diseases of Western living:
http://www.pnas.org/content/early/2012/03/26/1118355109.abstract

Lunacie
06-15-13, 11:20 AM
My language skills are pretty normal, I wonder if there is something similar
happening in people with dyscalculia?

Also, I think researchers are on the brink of understanding how to change
our genes - or at least put a patch on them.

Amtram
06-15-13, 12:30 PM
Dyscalculia involves different parts of the brain, but interestingly enough, Broca's Area, which controls our language syntax areas, can have an effect on "math syntax" as well. Damage to that area in particular can make it difficult to perform formulaic mathematics. A person may still be able to count, may be able to understand some processes when accompanied by a visual reference, but not have the ability to understand the function of certain aspects of math (not be able to add because they don't understand the plus sign, not be able to understand the order of multiple operations done sequentially, and so on.)

This study also shows an aspect of epigenetics that's often misunderstood - "environment" in epigenetics also incorporates the surrounding genes and alleles, duplication or transposition of nucleotides. . .i.e., the genome itself being an environment. The research is showing that these genes, when found together, result in a higher incidence of language disorders.

I was trying to come up with a good way of explaining this without being too technical, and it occurred to me to use the analogy of a family reunion. Imagine that each person at the party is a gene, and that the presence or absence of certain people and how they interact changes the "expression" of the party. If your favorite cousins are all there, then the section of the room where you're all hanging out is "expressing" family reunion optimally. If your ex wife shows up, but stays outdoors while you're in and vice versa, that section may remain unchanged. If she stays within your sight, the "expression" of the party for you (you're a gene, too) changes. If she shows up with her new spouse, it changes in a different way. If she also brings along their kids, it changes further still. And if your cousins like her and leave you to go and talk to her, your "expression" might be the antithesis of "family reunion."

All of that is environment, and the dynamic of that environment is not dependent upon where the reunion takes place, what the weather is like, or any circumstances outside of the interactions among the genes/attendees. And just like when 23 chromosomes from one person join up with 23 from another to create 46 unique ones that interact differently from any other 46, each family reunion, despite having the same pool of family members to choose from, will be different depending on which family members/genes attend, and what environment they create by their relationships with one another.

Lunacie
06-15-13, 01:45 PM
An interesting analogy. I love analogies, they really help me understand.

Genes don't die, though, do they? It really changes the family dynamic
when someone dies, eh.

Amtram
06-15-13, 08:19 PM
They don't die, but they're not the same in a different person as they were in another.

The whole allele thing is the gene pairs - the ones that work together but come from different sets of chromosomes. So even if you manage to pass on the exact same nose, size, shape, and everything, it might show up on a completely different face. Or it may be more symmetrical than it was in version 1.0 than it is in version 1.3. So the memory lives on, even though the environment changed.

Lunacie
06-15-13, 08:48 PM
They don't die, but they're not the same in a different person as they were in another.

The whole allele thing is the gene pairs - the ones that work together but come from different sets of chromosomes. So even if you manage to pass on the exact same nose, size, shape, and everything, it might show up on a completely different face. Or it may be more symmetrical than it was in version 1.0 than it is in version 1.3. So the memory lives on, even though the environment changed.

Interesting explanation. So much to think about.

sarek
06-17-13, 02:25 AM
Here is a strong reminder that the subject of this thread is the genetics of dyslexia.

Lets stay with the program, everyone.

SB_UK
06-17-13, 08:06 AM
Classical paper referencing genetics of dyslexia.

http://www.ncbi.nlm.nih.gov/pubmed/23349641
Nucleotide changes in the AUTS2 locus some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption.

It's the very heavy convergence between disorders as examined in the spin out thread - and the classical paper on the genetics of dyslexia above - which give us a clue as to the convergent nature of the aetiology of the common complex disorders of Western living.

Amtram
06-17-13, 08:43 AM
Yes, none of these things ever existed before "Western Lifestyle" became a thing, and they don't exist anywhere except where the "Western Lifestyle" is the norm.

SB_UK
06-17-13, 09:33 AM
Yes, none of these things ever existed before "Western Lifestyle" became a thing, and they don't exist anywhere except where the "Western Lifestyle" is the norm.

mind --- exhales --- contentedly ... ...

Amtram
06-17-13, 10:46 AM
Really. One of the benefits of genetic research, both including and outside of the Human Genome Project, has been the discovery of genes that are unique to a population or a geographic area, and quite often the approximate date of origin.

In fact, one of the tools anthropologists and paleontologists use to determine when a clade branched off or speciation occurred is genetics. That small percentage of the genome that isn't shared with other species tells us when we branched off.

Therefore, if one wishes to place blame on a particular factor for inducing a genetic change, it is possible to trace back and find that gene being new or newly mutated in, say, the late 19th century, and also find that it exists only in people whose genetic roots are in industrialized societies.

Since the majority of the genome traces back billions of years, it shouldn't be too hard to pick from the rest of it and find that new or altered gene. In fact, this article was looking at ANKK1, DRD2, DCDC2 and its READ1 regulator, KIAA0319, and OMIM has citations that indicate association with DYX1C1, DYX2 on chromosome 6p21.1, DYX3 on chromosome 2p16-p15, DYX5 on chromosome 3p12-q13, DYX6 on chromosome 18p11.2, DYX8 on chromosome 1p36-p34, and DYX9 on chromosome Xq27.3.

With all of that, it should be relatively easy to trace back which of these risk factors originated from "Western Lifestyle."

SB_UK
06-17-13, 04:36 PM
We've plenty of dyslexics in our family - and they all seem to have the same basic 'quality' which is of an incredible spatial awareness.
Funnily enough - the converse appears true of poor spatial awareness in those with language skills.

Pretty sure there's something really interesting in that observation.

Turning to google ... ... and it appears as if the idea is 'out there':
http://dyslexiavictoria.wordpress.com/2010/05/09/dyslexia-and-spatial-awareness/

Peculiarly - in most of the cases I've seen - husband and wife are of opposing types.

DcGonzo
06-17-13, 07:48 PM
Is there any aspect of humanity that a genetic link cannot be found for? We are genetic organisms it seems to me to be kind of stating the obvious, genetics are resultant not causative.

What are the real benefits for identifying specific genetic risk factors for dyslexia?

You do not need a geneticist to tell you if your child has trouble learning to read...

One possible benefit is the idea that likely strengths and weaknesses can be identified early on may help tailor educational systems better suited to the individual, but I am not sure genetic research would be necessarily requisite for that.

The point is if you could identify the risk earlier it would still be the environmental accommodations that would need to be focused on such as the education system, i don't see a significant benefit for identifying genetic "risk factors".

The ACTUAL benefits arise from understanding the optimal conditions for individuals to develop into as mentally and physically healthy human beings as possible.

This is why the interaction of genetics with environmental/epigenetics is a significant point of influence.

When I think about "genetic links" i think about examining similarities in smashed up cars, sure you can find similarities and patterns there as they are all cars but you are far better off looking at the lamp post in the middle of the road that they all swerved to avoid.

The ideal should be prevention not distraction.

Abi
06-19-13, 09:57 AM
Some of the cars were more likely to get into accidents because they had flaws in their construction.

TygerSan
06-19-13, 10:11 AM
When I think about "genetic links" i think about examining similarities in smashed up cars, sure you can find similarities and patterns there as they are all cars but you are far better off looking at the lamp post in the middle of the road that they all swerved to avoid.

Using your analogy: there is a lamp post in the middle of the road. Given that this is a quiet street without much traffic, public works doesn't think the post is that big of a deal, as 99 percent of the cars on the road have no problem swerving to avoid the post.

However, one percent of the cars traveling down the road*do* hit the post. It's not a large number of cars, and definitely not enough of a problem for public works to think of the pole as a huge environmental hazard, but enough for people to wonder: what *is* the difference between the cars that hit the post, and those that successfully avoid it?

An analysis of the crash points to a couple of issues that the cars have, some having to do with faulty speedometers, others having to do with faulty brakes. Both of those are problems that the car was made with, and, given that 99% of cars are fine with the environment at hand, that post is not going anywhere. Now what do you do?

Amtram
06-19-13, 12:23 PM
The thing with any science, genetics included, is that you need to investigate based on a hypothesis that is (by definition, actually) well-supported. You start from the most likely, the thing that is observed to be common, shared, repeated, supported by prior findings, and proceed from there.

You can't estimate risk factors alone and declare that you've found the answers. This includes the genetics end, which is why if you read the papers and the explanations from scientists, you'll see that with the exception of monogenic conditions and conditions with a high percent correlation between presence of genes and presence of the condition, the genetics are called a "risk factor" or a "predisposition."

These pieces of research, absent the hyperbole of certain media outlets, clearly state that they've found a connection, not the ultimate answer. Positive results direct future research. Negative ones do, as well, but the public isn't interested in those. In this case, the correlation is strong on several levels, and in several related conditions.

To use the car analogy, if the cars are hitting the pole because of a structural or functional problem, then you can be pretty sure that cars with the same problems are having other problems, even on streets that don't have a lamppost stuck in the middle. You don't need to do a big study on improperly located lampposts as much as you need to figure out what's wrong with all those cars. Studying what to do about the lamppost is going to fix one thing that's not a problem for most of the cars. Studying what to do about the cars is going to fix several thousands of problems that happen regardless of the presence or absence of bad traffic engineering.

So you figure out an individual problem, work on it, and then see that it's not the only problem. You figure out the next one, fix that, and then discover something else. Each thing that you figure out leads to a decrease in accidents, saving hundreds or even thousands of lives. Each problem you eliminate brings to light another you might have overlooked if you were studying only the lamppost, or looking only at a particular model of car instead of what all the cars had in common.

Even when you're done and manage to optimize the cars, you may still have problems - but by process of elimination you've managed to figure out that you need better driver education, and to stop putting lampposts in the middle of the road.

SB_UK
06-19-13, 04:32 PM
Using your analogy: there is a lamp post in the middle of the road. Given that this is a quiet street without much traffic, public works doesn't think the post is that big of a deal, as 99 percent of the cars on the road have no problem swerving to avoid the post.

However, one percent of the cars traveling down the road*do* hit the post. It's not a large number of cars, and definitely not enough of a problem for public works to think of the pole as a huge environmental hazard, but enough for people to wonder: what *is* the difference between the cars that hit the post, and those that successfully avoid it?

An analysis of the crash points to a couple of issues that the cars have, some having to do with faulty speedometers, others having to do with faulty brakes. Both of those are problems that the car was made with, and, given that 99% of cars are fine with the environment at hand, that post is not going anywhere. Now what do you do?

1% is too high.
The argument is still prevention.
The epidemiologist 'd simply have to show that there's a statistically greater chance of a crash in the road with a lampost in the centre - than a control road without.
If the team responsible for removing the lampost were too thick to listen to the wise epidemiologist ... ...

- then it's only a matter of time before medicine's dark side (the bit that isn't epidemiology and which believes in drugs) - advocates something silly like the use of high dose stimulants to all people driving in that sector of town - to ensure they're sufficiently 'awake' to avoid an accident ... ... and then the next thing you know - side effects and losts of them ... ... NSAIDs and sudden heart attacks - a few days ago ... ... and we're bound to find some really startling news on antibiotics and their effects on the microbiome soon ... ... all of the blockbuster drugs are falling from grace.

Abi
06-19-13, 04:52 PM
SB There will always be lamposts

Not just ones in the middle of the road, but ones along the periphery.

And the faulty cars will knock into those as well.

They will knock into natural phenomena like trees as well.

The only way to prevent the faulty cars from crashing without studying and attempting to repair them, is to park them off, in your garage.

SB_UK
06-19-13, 04:55 PM
SB There will always be lamposts

Not just ones in the middle of the road, but ones along the periphery.

And the faulty cars will knock into those as well.

They will knock into natural phenomena like trees as well.

The only way to prevent the faulty cars from crashing without studying and attempting to repair them, is to park them off, in your garage

I don't like any form of vehicle - think that information (software) without hardware is the way forward - and so am in absolute agreement - recycle the cars - and move into the next (infintely better) world :) using your 2 own feet.

Where is it exactly that people want to go ?

Amtram
06-19-13, 05:01 PM
That is based entirely on the assumption that the problem is as simple to determine and correct as a lamppost in the middle of the street, and that there cannot possibly exist any other problems that would explain why some cars can avoid it with ease and some hit it. It's a reductionist argument that doesn't fly when it comes to biology, even if you are looking at only a subset of biology.

Removing the lamppost might prevent collisions with the lamppost, but that's all it does. The cars that had problems that increased the likelihood of colliding with something in the middle of the road will still hit something - it just won't be that one unique individual lamppost. You've solved the cars colliding with the lamppost problem, but you still haven't done a thing to fix the cars colliding with things because there's something wrong with them.

Finding a strong correlation is essential to prevention, too, which is something some people seem to gloss over. Without investigating what increases risk, you will never find a way to decrease that risk. If you don't know how to decrease it, then it's darned near impossible that you'll ever be able to prevent it.

It's the "remove the lamppost" team stating with absolute certainty that once the lamppost is gone, we'll never have to worry about any cars anywhere every colliding with anything ever again. What happens when cars continue to collide with other things? Do we blame it on the lampposts that are mounted too close to the street and remove those? And then the lampposts that are within 100 feet of the accidents, and remove those, too? And continue to remove lampposts until they're all gone and then know just as much about what's causing cars to collide with things as we did when it was all about the one lamppost in the middle of the road?

You cannot prevent something if you don't know what caused it, and the research that is the foundation of both treatment and prevention is research into causation. This kind of research, looking for risk factors at the earliest point in human development, is not drug research. It is research that is essential to learning how our bodies and brains are formed and how they work, and every genuinely useful piece of information we have on prevention of disease came from it. Some of it leads to treatment, some of it leads to the development of medicines, medical devices, and medical procedures. But without it, we'd have no prevention, either.

Without research into causation, we would know no more about prevention of disease than we did back when people thought holding sweet-smelling flowers under your nose would prevent plague, or regular bloodletting would prevent pretty much everything, or any number of other superstitious and ineffective "preventive" practices that have been employed throughout the ages. That's like playing pin the tail on the donkey inside a maze.

Abi
06-19-13, 05:09 PM
I don't like any form of vehicle - think that information (software) without hardware is the way forward - and so am in absolute agreement - recycle the cars - and move into the next (infintely better) world :) using your 2 own feet.

Where is it exactly that people want to go ?

I don't want to derail this thread, so if you want to continue this branch of the conversation I made a thread here (http://www.addforums.com/forums/showthread.php?t=146853).

SB_UK
06-19-13, 05:56 PM
problem comes when we know what caused it - can prevent the problem from occurring - vested interests prevent prevention - other vested interests promote cures ,which don't work - people are sandwiched between addiction by vested interest group 1 and vested interest group 2 eg in America super-expensive experimental anti-cancer regimes
- the individual through poor quality of life to smoking and poor quality of death to toxic chemo agent ... loses.
The 2 vested interests gain.
The gain made by 2 vested interests is not moral.

So epi's key problem - we've nailed correlation/causation ... but prevention isn't an option for wholly lowly economic reasons.
Today's news story - extension of traffic light labelling of all foods for sugar, salt, fast etc... guess which 2 companies have withdrawn from the system - all the 'reds' - cocacola and cadburys.

The problem isn't correlation/causation definition - it's acting upon it that is the problem.

meadd823
06-19-13, 06:11 PM
closed for review by dyslexic moderators!