The editors of the newsletter for my local chapter of the Autism Society of America asked me for any advice on preparing children on the spectrum for the back-to-school experience. Here are some ideas:
To me, the biggest sources of discomfort were surprises and sudden changes in routines. Therefore, I suggest:
1.If the new school year involves getting up earlier than has been the case over the summer, it may be helpful phase this in gradually well before the start of school. It may also be useful to phase in the rhythm of meal times that will be in place during the school year.
2. If the child will be wearing different clothes to school than he or she did during vacation, it may be helpful to phase this in ahead of time.
3. If siblings are going back to school, too, it may be helpful to prepare for changes that will happen in the family routine.
4. To me, it was difficult to transition from vacation to full time school. If homework is involved, it may be useful to get the assignments in advance and work on this material before the start of school so that there will be less, and hopefully no, homework during the first week. If possible, it may help the transition if the child can leave early during the first week.
5. If a new school, or a new room at the old school, is involved, it may be important to see this before the start of the term. This room should be examined for possible sensory violations (e.g., creaking doors, lights that may be flickering, fans that may be running in the background, echo, or unusual odors).
6. If information about the child's schedule for the coming year is available, it may be better to know this before the start of the year rather than on the first day.
7. If there is a new teacher, this will of course be a considerable adjustment. Obviously, it would be helpful to meet this teacher with just the child and family before school starts. To get a sense of expectations, it would be useful to know this teacher's rules as explicitly as possible before school starts.
8. When I went to elementary school in Denmark, the same students stayed together in a class from year to year, but my understanding is that in the U.S., children are put into different groups each year. If a child is in a large class, learning new names and faces can be difficult. If photos are available, those may be helpful. If not, perhaps the teacher, parent, or aide might teach the child the name of one new student each day.
9. If new subjects start this year, advance notice of what this class involves is essential, and it is important to look for problems. For example, in my music class, I could not understand the words that the other students were singing. New classes may also involve possible sensory violations.
10. Saying that "Everything will be OK" may sound comforting to the person saying it, but those of us on the spectrum are likely either to be very disappointed or very skeptical of this claim. This kind of "reckless and irresponsible optimism" only served to reduce my ability to trust the person saying it!
Wednesday, August 10, 2005
Tuesday, June 14, 2005
Tears on my keyboard
No, I am not personnally crying at the moment, but the Autism Society of America will hold its annual conference in Nashville, TN, this year, and as part of that event, I have been given the opportunity to write a country music song and have it put to music. So, I am writing a beautiful song about a man who lives in Tennessee and "meets" a woman who lives in Texas online. For many years, it has been a "secret" dream of mine to become a country star (see http://www.larsperner.com/personal/brief_biography.htm), but unfortunately, I seem to lack any talent when it comes to singing. At least I can write the songs!
Sunday, May 08, 2005
The Seemingly Wasteful Universe
As a person with broad interests, astronomy fascinates me. Yet, I can't help thinking just how wasteful the universe seems to me. I am not one to look a gift horse in the mouth, so I am not advocating doing away with distant starts, galaxies, and other objects if doing so would in any way compromise the earth. As a matter of fact, it is probably a good thing that all this material exists. There is just a lingering element of greed within me that wishes that more of the materials out there would be available for use on earth.
There is probably no way around earth being a small part of our solar system. It is clear that we need to sun to survive--both for the energy it radiates and for its gravitational attraction. As I understand it, the moon stabilizes the earth, so that is probably a worthwhile expenditure, too. Life on Jupiter is believed to protect earth by intercepting incoming certain incoming comets and other destructive rocks. Of all the sun's satellites, Jupiter makes up the largest share, and it is probably a good idea to have Saturn as a backup. I have a special fondness for Pluto, but that planet and Mercury aren't great excesses. Perhaps there is some use for Venus, too. I am less sure about Uranus and Neptune. Neptune reportedly serves a purpose in setting the orbit of Pluto, but it is a rather large asset to devote to this purpose.
The greatest "waste" is probably clearly outside our solar system. And, of course, there is the possibility that other material out there provides valuable support for life elsewhere.
There is probably no way around earth being a small part of our solar system. It is clear that we need to sun to survive--both for the energy it radiates and for its gravitational attraction. As I understand it, the moon stabilizes the earth, so that is probably a worthwhile expenditure, too. Life on Jupiter is believed to protect earth by intercepting incoming certain incoming comets and other destructive rocks. Of all the sun's satellites, Jupiter makes up the largest share, and it is probably a good idea to have Saturn as a backup. I have a special fondness for Pluto, but that planet and Mercury aren't great excesses. Perhaps there is some use for Venus, too. I am less sure about Uranus and Neptune. Neptune reportedly serves a purpose in setting the orbit of Pluto, but it is a rather large asset to devote to this purpose.
The greatest "waste" is probably clearly outside our solar system. And, of course, there is the possibility that other material out there provides valuable support for life elsewhere.
Saturday, September 18, 2004
Adoption
Some years ago, while getting ready to check out from Motel 6, I watched a bit of a movie starring Glenn Close. This film--probably entitled Immediate Family--judging from the Internet--dealt with a family seeking to complete an adoption. One line went: "Birth is nature's way. Adoption is God's way."
That was a very insightful perspective. It even touched the heart of this agnostic!
That was a very insightful perspective. It even touched the heart of this agnostic!
Tuesday, September 14, 2004
Dress sizes
For my consumer behavior class, I have assigned Why We Buy by Paco Underhill, the anthropologist turned retail consultant. In one chapter, he addresses the issue of making it easier for men to shop for clothing as gifts for their wives or girlfriends. Underhill suggests that it might be helpful for stores to offer women the opportunity to have their measurements on file so that men can shop knowing that the needed information is available.
This seems like a good idea. I realized that, even as a marketing professor, I would not know much about how dresses are measured. I recall references to dress sizes in three dimensions (specified simply in order, with the expectation that one would know what each dimension was). I decided to look up which dimensions are involved, and to my surpirse, height does not appear to be one of them!
I was surprised.
This seems like a good idea. I realized that, even as a marketing professor, I would not know much about how dresses are measured. I recall references to dress sizes in three dimensions (specified simply in order, with the expectation that one would know what each dimension was). I decided to look up which dimensions are involved, and to my surpirse, height does not appear to be one of them!
I was surprised.
Saturday, September 11, 2004
Euro Cents Across Europe
An Associated Press story (see http://seattletimes.nwsource.com/html/nationworld/2002032765_nopenny11.html) today reports that retailers in many European countries are moving toward discarding the Euro one and two cent pieces. The practice of rounding to the nearest five cent piece is becoming increasingly common--except in Germany. Apparently, although some regions of Germany tend to be quite affluent, the desire for precision outweights the hassle of dealing with these small coints. This is despite the reality that the cost of manufacturing the one and two cent coins is higher than their value.
The story cites a poll from across the EU that 61% of respondents want to eliminate the one cent piece. Enthusiasm for rounding does, however, have its limits--only 55% favor doing away with the two cent piece.
A Gallup poll from the U.S. is cited, finding that "more than half" of respondents here favor doing away with the penny through rounding to the nearest nickel. Yet, it appears that "only about a quarter" of Americans actually spend their pennies, with most accumulating.
The story cites a poll from across the EU that 61% of respondents want to eliminate the one cent piece. Enthusiasm for rounding does, however, have its limits--only 55% favor doing away with the two cent piece.
A Gallup poll from the U.S. is cited, finding that "more than half" of respondents here favor doing away with the penny through rounding to the nearest nickel. Yet, it appears that "only about a quarter" of Americans actually spend their pennies, with most accumulating.
Friday, September 10, 2004
Election polls
With public opinion polls showing a tight race again in this year's Presidential election, it might be useful to take a look at how polls are conducted.
A poll conducted by Newsweek from September 2-3 shows 52% for Bush and 42% for Kerry among "likely voters." This poll has a "margin of error" 0f +/- 3%. It might be noted that this is actually one of the larger differences we have seen for a while. Had we been closer to a 50-50 split, it would have been more difficult to determine who was ahead. Even at 52% vs. 48%, we could not say with much certainty who was actually ahead.
Why such a large margin? The above survey was based on a survey of 1,008 respondents. With so many people, why can't we make more precise determinations?
Computing the margin of error is based on the idea of a "confidence interval" within statistics. If we tossed a coin ten times and got six heads, we would not have much reason to doubt that the coin was unbiased. On the other hand, if we threw 10,000 and got 60% heads, we would worry more.
To determine a confidence interval, we start by determining the "standard deviation" of the percentages for a given sample size. First, we need to make a slight modification since 52% and 42% figures do not add up t0 100%--people could vote for a third candidate or still be undecided. Therefore, we will base our calculations on those who are--and those who are not--supporting one of the candidates. For Bush, we have 52% for (p) and 48% "not for" (1-p).
The formula for the standard deviation of a "proportion"--or percentage--is
(p(1-p)/n)^0.5.
That is, the square root of the quantity p times 1-p over n.
To put in actual numbers:
(0.52(0.48)/1,008)^0.5 = 0.0157
To be 95% certain—an arbitrarily selected standard favored by many statisticians in the U.S.--that our confidence interval will cover the true proportion, we must go 1.96 standard deviations on either side of the sample proportion. (You would have to look up this number in a table). We thus have
1.96(0.0157) = 0.0308.
The 95% confidence interval for those supporting Bush is therefore 0.52 +/- 0.0308 or from 48.92% to 55.08%. Repeating the calculations for Kerry, his confidence interval turns out to be 38.95% to 45.05%.
It is interesting to observe that the margin of error is so large precisely because the two candidates are so close to each other. Note that, in the numerator of the formula for the standard deviation, the figures p and (1-p) figure prominently. 0.5(0.5) = 0.25, which is much larger than the (0.99) (0.01) = 0.0099 figures we would have if we were determining the margin of error for a 99% to 1% race. From an intuitive point of view, looking at any one voter, it is difficult to tell how he or she will vote in a 50-50 race. In a 99-1 race, not only is the sample outcome overwhelming, but on top of this, the margin of error will be much less because there is little doubt how each individual voter will behave.
In principle, we could reduce the margin of error proportionately by increasing the sample size. If we had 3,000 respondents instead of 1,008, the margin of error would be only about 1%. Sampling such larger groups would be more expensive, and because of the time sensitive nature of polling data, this increase could also result in delays in finishing the poll.
An important issue is conducting opinion polls is the question of who should be surveyed. The above survey is based on "likely voters." If the sampling base is all eligible--or at least all registered--voters, Kerry's figures appear to be higher. From the point of view of the representation of people in a democracy, that may be a more appropriate figure. However, it is a reality that only those voters who actually turn out will decide the election outcome. Thus, the estimate based on "likely voters" is likely to represent a more accurate prediction of actual election results if the election were held at the time of the election. It should also be noted that despite the best efforts, it is not possible in practice to identify a perfect sampling base of either all eligible voters or those most likely. Some individuals that should have been included will be omitted from any practical survey, and some that are not eligible will be included by mistake. Professional pollsters, however, do the best they can do minimize such biases.
A poll conducted by Newsweek from September 2-3 shows 52% for Bush and 42% for Kerry among "likely voters." This poll has a "margin of error" 0f +/- 3%. It might be noted that this is actually one of the larger differences we have seen for a while. Had we been closer to a 50-50 split, it would have been more difficult to determine who was ahead. Even at 52% vs. 48%, we could not say with much certainty who was actually ahead.
Why such a large margin? The above survey was based on a survey of 1,008 respondents. With so many people, why can't we make more precise determinations?
Computing the margin of error is based on the idea of a "confidence interval" within statistics. If we tossed a coin ten times and got six heads, we would not have much reason to doubt that the coin was unbiased. On the other hand, if we threw 10,000 and got 60% heads, we would worry more.
To determine a confidence interval, we start by determining the "standard deviation" of the percentages for a given sample size. First, we need to make a slight modification since 52% and 42% figures do not add up t0 100%--people could vote for a third candidate or still be undecided. Therefore, we will base our calculations on those who are--and those who are not--supporting one of the candidates. For Bush, we have 52% for (p) and 48% "not for" (1-p).
The formula for the standard deviation of a "proportion"--or percentage--is
(p(1-p)/n)^0.5.
That is, the square root of the quantity p times 1-p over n.
To put in actual numbers:
(0.52(0.48)/1,008)^0.5 = 0.0157
To be 95% certain—an arbitrarily selected standard favored by many statisticians in the U.S.--that our confidence interval will cover the true proportion, we must go 1.96 standard deviations on either side of the sample proportion. (You would have to look up this number in a table). We thus have
1.96(0.0157) = 0.0308.
The 95% confidence interval for those supporting Bush is therefore 0.52 +/- 0.0308 or from 48.92% to 55.08%. Repeating the calculations for Kerry, his confidence interval turns out to be 38.95% to 45.05%.
It is interesting to observe that the margin of error is so large precisely because the two candidates are so close to each other. Note that, in the numerator of the formula for the standard deviation, the figures p and (1-p) figure prominently. 0.5(0.5) = 0.25, which is much larger than the (0.99) (0.01) = 0.0099 figures we would have if we were determining the margin of error for a 99% to 1% race. From an intuitive point of view, looking at any one voter, it is difficult to tell how he or she will vote in a 50-50 race. In a 99-1 race, not only is the sample outcome overwhelming, but on top of this, the margin of error will be much less because there is little doubt how each individual voter will behave.
In principle, we could reduce the margin of error proportionately by increasing the sample size. If we had 3,000 respondents instead of 1,008, the margin of error would be only about 1%. Sampling such larger groups would be more expensive, and because of the time sensitive nature of polling data, this increase could also result in delays in finishing the poll.
An important issue is conducting opinion polls is the question of who should be surveyed. The above survey is based on "likely voters." If the sampling base is all eligible--or at least all registered--voters, Kerry's figures appear to be higher. From the point of view of the representation of people in a democracy, that may be a more appropriate figure. However, it is a reality that only those voters who actually turn out will decide the election outcome. Thus, the estimate based on "likely voters" is likely to represent a more accurate prediction of actual election results if the election were held at the time of the election. It should also be noted that despite the best efforts, it is not possible in practice to identify a perfect sampling base of either all eligible voters or those most likely. Some individuals that should have been included will be omitted from any practical survey, and some that are not eligible will be included by mistake. Professional pollsters, however, do the best they can do minimize such biases.
Thursday, September 09, 2004
The genetics of autism
A recently released study hypothesizes that autism may be caused by displacement in sequence of genetic material. The details are rather complicated, and the model apparently requires at least two sequence displacements to work.
This may be a good opportunity to reflect on the genetics of autism. I was inspired to create a model that explains the different ways that genetics may lead to the manifestation of autism. This model can be viewed at http://www.larsperner.com/pdf/autism_genetics.pdf .
Impact of Genetics. Overall, genetics appear to have a strong influence on autism. Studies of concordance among identical twins--or the extent to which both will show autism if one does--have reached different results. One study puts the odds at around 90% while others suggest a rate more like 50%. This question is complicated by two factors--criteria for diagnosis and environmental impacts.
If one uses a strict definition of "autistic disorder," chances that two identical twins will share this diagnosis are smaller than if more flexible criteria are used. The fact that only one receives a diagnosis does not mean that the other has not inherited characteristics of autism. Studies show that even if an identical twin of a person with autism does not meet the criteria for a diagnosis, he or she is likely to show symptoms that may not reach the threshold for diagnosis. For example, the twin may have Asperger's Syndrome, PDD-NOS, or other characteristics that may fall short of warranting an outright diagnosis.
The shared impact of environment is an additional complicating factor. Ideal studies of identical twins study individuals who have been raised apart, but in autism, it is difficult to find sufficient numbers of people who are both identical twins and raised apart. To some extent, one can control for the environment by comparing observations to "fraternal" (or, to avoid being sexist, "sororal") twins. However, it is likely that identical twins will have their perceived identities greatly influenced by having a genetically identical other. This may be less important in studying conditions that do not appear to be related to personality, but with the ambiguity and subjective nature of autism, this will be a more significant problem here. It should also be pointed out that identical twins may actually have experienced significant differences in their environment, starring with their respective positions in the womb.
A One-Gene Model. First in the model, we see the possibility that one single gene could, in principle, be enough to cause autism. We do not know of such a gene, and several genes could individually result in autism.
Multiple-Gene Vulnerability Model. Another model, which Dr. Geraldine Dawson of the University of Washington discussed in her keynote address this summer at the conference of the Autism Society of America, suggests that many genes may be involved in autism. An individual may need to reach a certain threshold--that is, have at least a critical number of genetic conditions--before any symptoms are shown. Again, it is likely that a large number of genes are involved and that no single one of these genes is necessarily shared by all people on the autistic spectrum. For example, if, say, thirty genes are involved, one may, in the simplest model, need to have any five. It could be that some genes are more important, so that if certain "power genes" are affected, only three might be needed.
“Stressor” Genes in Combination With Autism Genes. Autism often inflicts a great deal of stress on the body. It is possible that certain genes that are not directly associated with autism may, reduce the body’s ability to cope with a smaller number of autism would not have been enough to reach a threshold for the manifestation of autism, reduce the body’s ability to “manage” complications from genes that could, by themselves, have been handled.
Again, for example, if stressor genes are present, it might take only three autism genes—rather than five normally required—for autism to “kick in.” Genetic susceptibility to the accumulation of heavy metals in the blood and intolerance of glutens (typically found among grain based foods) and/or casein (typically found in milk-based foods) are observed
Environmental Vulnerability in Combination With Genes. Another possibility is that the person may suffer from one or more genetic problems that, by themselves, would not lead to autism. However, when combined with autism genes, autism might result. Problems associated with autism often inflict a great deal of stress on the body, so if another "stressor" gene is present, the body may have fewer resources left to compensate for autism genes that could otherwise have been "managed." For example, even if genes that result in intolerance to glutens (found in certain kinds of breads) and casein (found in certain milk products) are present, this may leave the body more vulnerable to influence by more "direct" autism genes. Vulnerability to heavy metal accumulation could have a similar impact in combination with autism genes.
In a related situation, environmental complications--such as exposure to toxins, malnutrition, fever, or other illnesses--may stress the body in much the same way as non-autism genes. Again, fewer autism vulnerability genes may be needed to reach the needed threshold.
Gene Sequence Disruptions. A special case of a genetic cause of autism is disruptions in gene sequences as discussed in the beginning of this post. Here, the genetic information may be the same as in a non-affected individual, but the sequence of the genetic does may have been corrupted. This is roughly analogous to information that has been entered into a book or spreadsheet out of order. The effects of genetics appear to be expressed through the creation of proteins that are determined by the genetic code, and a small alteration in sequences may cause considerable reverberations throughout the protein outcome.
"Innocent" But Correlated Genes. One way to "hunt" for autism genes is to study the frequency with which various genes occur among affected individuals relative to rest of the population. Genes that are shared in high numbers are more likely to be implicated. The vastness of the human genome and the large costs of collecting complete data for a large number of people often makes it difficult to use this kind of "brute" force. A shortcut, however, involves a comparison of genetic conditions that have an identifiable physical manifestation. For example, if more people on the autistic spectrum were left handed, we might suspect a common gene. If we know the location of a condition that is observed frequently among people on the autistic spectrum, we can examine the frequencies of such genes in autistic and non-autistic groups. It turns out, however, that the correlation of genetics and traits does not always mean that the same genes are involved in two conditions. Occasionally, it will be reported in the news that a "gene marker" has been found for a particular condition. A gene marker is not a specifically identified gene, but rather a hypothesized gene that is believed to be located within a certain region on a specific gene. The reason why this result comes about has to do with the way that chromosomes are mixed in the reproduction process. Among chromosomes, physical fit between the chromosomes of each parent will be better in some areas than in others. Therefore, genes located near each other are more likely to be inherited together. Here, then, we have an illusory correlation. Autism and certain genetic traits may occur together, but the respective genetic traits do not necessarily cause--or even influence--the expression of autism.
Genetic Protection. One additional complication is that there is apparently a certain amount of "backup" material--or "spare" genes--that can be activated if certain genetic material that would otherwise be used is missing. (It can, however, also be a problem if both the default and the "backup" genes are "turned on.") To the extent that this backup material is consistently available across individuals, irrespective of other genetic differences, this would merely result in a gene being less important in causing autism. However, when this protection "kicks in" less consistently, more "noise" is introduced, obscuring the effects of individual genes.
Genetics Within a Broader Context. For another perspective on the dynamics of autism, see my integrative model at http://www.larsperner.com/pdf/overall_autism_model.pdf .
Conclusion. Autism is a perplexing phenomenon. Individual aspects of the condition are highly confusing by themselves, and many paradoxes have been observed. Genetics--even for relatively simple traits--is also a very challenging field, so it is not surprising that, when the two are considered together, drawing conclusions is difficult. With the mechanics of genetics being somewhat outside by area of knowledge, I cannot offer any credible prediciton on how soon--or whether--we breaktroughs in this area may be reached.
This may be a good opportunity to reflect on the genetics of autism. I was inspired to create a model that explains the different ways that genetics may lead to the manifestation of autism. This model can be viewed at http://www.larsperner.com/pdf/autism_genetics.pdf .
Impact of Genetics. Overall, genetics appear to have a strong influence on autism. Studies of concordance among identical twins--or the extent to which both will show autism if one does--have reached different results. One study puts the odds at around 90% while others suggest a rate more like 50%. This question is complicated by two factors--criteria for diagnosis and environmental impacts.
If one uses a strict definition of "autistic disorder," chances that two identical twins will share this diagnosis are smaller than if more flexible criteria are used. The fact that only one receives a diagnosis does not mean that the other has not inherited characteristics of autism. Studies show that even if an identical twin of a person with autism does not meet the criteria for a diagnosis, he or she is likely to show symptoms that may not reach the threshold for diagnosis. For example, the twin may have Asperger's Syndrome, PDD-NOS, or other characteristics that may fall short of warranting an outright diagnosis.
The shared impact of environment is an additional complicating factor. Ideal studies of identical twins study individuals who have been raised apart, but in autism, it is difficult to find sufficient numbers of people who are both identical twins and raised apart. To some extent, one can control for the environment by comparing observations to "fraternal" (or, to avoid being sexist, "sororal") twins. However, it is likely that identical twins will have their perceived identities greatly influenced by having a genetically identical other. This may be less important in studying conditions that do not appear to be related to personality, but with the ambiguity and subjective nature of autism, this will be a more significant problem here. It should also be pointed out that identical twins may actually have experienced significant differences in their environment, starring with their respective positions in the womb.
A One-Gene Model. First in the model, we see the possibility that one single gene could, in principle, be enough to cause autism. We do not know of such a gene, and several genes could individually result in autism.
Multiple-Gene Vulnerability Model. Another model, which Dr. Geraldine Dawson of the University of Washington discussed in her keynote address this summer at the conference of the Autism Society of America, suggests that many genes may be involved in autism. An individual may need to reach a certain threshold--that is, have at least a critical number of genetic conditions--before any symptoms are shown. Again, it is likely that a large number of genes are involved and that no single one of these genes is necessarily shared by all people on the autistic spectrum. For example, if, say, thirty genes are involved, one may, in the simplest model, need to have any five. It could be that some genes are more important, so that if certain "power genes" are affected, only three might be needed.
“Stressor” Genes in Combination With Autism Genes. Autism often inflicts a great deal of stress on the body. It is possible that certain genes that are not directly associated with autism may, reduce the body’s ability to cope with a smaller number of autism would not have been enough to reach a threshold for the manifestation of autism, reduce the body’s ability to “manage” complications from genes that could, by themselves, have been handled.
Again, for example, if stressor genes are present, it might take only three autism genes—rather than five normally required—for autism to “kick in.” Genetic susceptibility to the accumulation of heavy metals in the blood and intolerance of glutens (typically found among grain based foods) and/or casein (typically found in milk-based foods) are observed
Environmental Vulnerability in Combination With Genes. Another possibility is that the person may suffer from one or more genetic problems that, by themselves, would not lead to autism. However, when combined with autism genes, autism might result. Problems associated with autism often inflict a great deal of stress on the body, so if another "stressor" gene is present, the body may have fewer resources left to compensate for autism genes that could otherwise have been "managed." For example, even if genes that result in intolerance to glutens (found in certain kinds of breads) and casein (found in certain milk products) are present, this may leave the body more vulnerable to influence by more "direct" autism genes. Vulnerability to heavy metal accumulation could have a similar impact in combination with autism genes.
In a related situation, environmental complications--such as exposure to toxins, malnutrition, fever, or other illnesses--may stress the body in much the same way as non-autism genes. Again, fewer autism vulnerability genes may be needed to reach the needed threshold.
Gene Sequence Disruptions. A special case of a genetic cause of autism is disruptions in gene sequences as discussed in the beginning of this post. Here, the genetic information may be the same as in a non-affected individual, but the sequence of the genetic does may have been corrupted. This is roughly analogous to information that has been entered into a book or spreadsheet out of order. The effects of genetics appear to be expressed through the creation of proteins that are determined by the genetic code, and a small alteration in sequences may cause considerable reverberations throughout the protein outcome.
"Innocent" But Correlated Genes. One way to "hunt" for autism genes is to study the frequency with which various genes occur among affected individuals relative to rest of the population. Genes that are shared in high numbers are more likely to be implicated. The vastness of the human genome and the large costs of collecting complete data for a large number of people often makes it difficult to use this kind of "brute" force. A shortcut, however, involves a comparison of genetic conditions that have an identifiable physical manifestation. For example, if more people on the autistic spectrum were left handed, we might suspect a common gene. If we know the location of a condition that is observed frequently among people on the autistic spectrum, we can examine the frequencies of such genes in autistic and non-autistic groups. It turns out, however, that the correlation of genetics and traits does not always mean that the same genes are involved in two conditions. Occasionally, it will be reported in the news that a "gene marker" has been found for a particular condition. A gene marker is not a specifically identified gene, but rather a hypothesized gene that is believed to be located within a certain region on a specific gene. The reason why this result comes about has to do with the way that chromosomes are mixed in the reproduction process. Among chromosomes, physical fit between the chromosomes of each parent will be better in some areas than in others. Therefore, genes located near each other are more likely to be inherited together. Here, then, we have an illusory correlation. Autism and certain genetic traits may occur together, but the respective genetic traits do not necessarily cause--or even influence--the expression of autism.
Genetic Protection. One additional complication is that there is apparently a certain amount of "backup" material--or "spare" genes--that can be activated if certain genetic material that would otherwise be used is missing. (It can, however, also be a problem if both the default and the "backup" genes are "turned on.") To the extent that this backup material is consistently available across individuals, irrespective of other genetic differences, this would merely result in a gene being less important in causing autism. However, when this protection "kicks in" less consistently, more "noise" is introduced, obscuring the effects of individual genes.
Genetics Within a Broader Context. For another perspective on the dynamics of autism, see my integrative model at http://www.larsperner.com/pdf/overall_autism_model.pdf .
Conclusion. Autism is a perplexing phenomenon. Individual aspects of the condition are highly confusing by themselves, and many paradoxes have been observed. Genetics--even for relatively simple traits--is also a very challenging field, so it is not surprising that, when the two are considered together, drawing conclusions is difficult. With the mechanics of genetics being somewhat outside by area of knowledge, I cannot offer any credible prediciton on how soon--or whether--we breaktroughs in this area may be reached.
Wednesday, September 08, 2004
Astronomy and fiscal responsibility
The crash of the Genesis solar explorer capsule reminds me of a rather touchy issue that has caused me to agonize for many years. Personally, I am very interested in astronomy, but I wonder if it is fair to society as a whole--or to the world--to spend so much money on somethng that is, ultimately, mostly of theoretical interest for those of us who are curious.
Space exploration unquestionably results in technology that can be transferred to applications. Although I understand that it is a controversial question whether the first Moon explorations are genuinely responsible for the advent of teflon, I suspect that other materials science and aviation contributions can be significant. I am less sure that these come about in a cost effective manner.
As suggested by a prior post, I am particularly interested in planets in other solar systems. I can remember the days before we knew that any existed, and I will be particularly interested if we ever find more Earth-like planets. Ultimately, with other budgetary priorities--and with the environmental consequences of the space launches involved--I am wondering if this is a too expensive indulgence.
Space exploration unquestionably results in technology that can be transferred to applications. Although I understand that it is a controversial question whether the first Moon explorations are genuinely responsible for the advent of teflon, I suspect that other materials science and aviation contributions can be significant. I am less sure that these come about in a cost effective manner.
As suggested by a prior post, I am particularly interested in planets in other solar systems. I can remember the days before we knew that any existed, and I will be particularly interested if we ever find more Earth-like planets. Ultimately, with other budgetary priorities--and with the environmental consequences of the space launches involved--I am wondering if this is a too expensive indulgence.
Tuesday, September 07, 2004
Another kind of role model
During his Presidency, it might be argued that, at least in some respects, Bill Clinton did not consistently serve as a good role model.
Now, Bill Clinton's recent heart surgery may have a significant influence on the behavior of many people who might otherwise go with undiagnosed heart problems. The former President, before the surgery, actually encouraged others to be checked, and because of the attention given to his case, will be more likely to be examined themselves. Apparently, when Fonzie obtained a library card in one episode of Happy Days, libraries experienced a dramatic increase in applications. It is less clear, however, how long the effects of Clinton's role modeling will last. The effect on people actually experiencing symptoms will probably last longer than it will for those who are "merely" in a high risk category.
Now, Bill Clinton's recent heart surgery may have a significant influence on the behavior of many people who might otherwise go with undiagnosed heart problems. The former President, before the surgery, actually encouraged others to be checked, and because of the attention given to his case, will be more likely to be examined themselves. Apparently, when Fonzie obtained a library card in one episode of Happy Days, libraries experienced a dramatic increase in applications. It is less clear, however, how long the effects of Clinton's role modeling will last. The effect on people actually experiencing symptoms will probably last longer than it will for those who are "merely" in a high risk category.
Saturday, September 04, 2004
Super Marketing Man
I don't drink, I don't smoke, and I don't do drugs (tall people are naturally high, anyway). I do, however, have one vice: Internet domain names. Every now and then, I register a new one.
Yesterday, a colleague made an off-hand reference to the "Marketing Man." This inspired me to check if MarketingMan.com was available. It wasn't, and it probably went way back in the old days (i.e., around 1999 or 2000).
Today, on an off-chance, it occurred to me to check if SuperMarketingMan.com was available. It actually was! Now I have to decide what to post on that site. For once, I don't feel guilty about acquiring this one. It describes me rather well! Maybe I should write an essay on my contributions to the intellectual development of marketing. Perhaps an autobiography would be more suitable. What do y'all think?
Yesterday, a colleague made an off-hand reference to the "Marketing Man." This inspired me to check if MarketingMan.com was available. It wasn't, and it probably went way back in the old days (i.e., around 1999 or 2000).
Today, on an off-chance, it occurred to me to check if SuperMarketingMan.com was available. It actually was! Now I have to decide what to post on that site. For once, I don't feel guilty about acquiring this one. It describes me rather well! Maybe I should write an essay on my contributions to the intellectual development of marketing. Perhaps an autobiography would be more suitable. What do y'all think?
Thursday, September 02, 2004
Smaller extra-Solar System planets
A newspaper article today reported that several planets of a size similar to those of Uranus and Neptune have now been found to orbit stars outside our solar system. Previously, only Saturn size planets had been detected.
For some reason, I am fascinated by the idea of planets orbiting stars outside our system. Planets discovered so far tend to be to big, and to orbit too closely to their parent stars, to be able to support organic life, but it is predicted that we will eventually be able to detect earth-sized planets.
One astronomer predicts that the Milky Way contains as many as two billion planets. I have no idea of the merits of this claim, but if this figure is true, I wish I owned a dollar for each one!
For some reason, I am fascinated by the idea of planets orbiting stars outside our system. Planets discovered so far tend to be to big, and to orbit too closely to their parent stars, to be able to support organic life, but it is predicted that we will eventually be able to detect earth-sized planets.
One astronomer predicts that the Milky Way contains as many as two billion planets. I have no idea of the merits of this claim, but if this figure is true, I wish I owned a dollar for each one!
Demographics
A colleague of mine asked the students in his MBA level international marketing course about the current size of the U.S. population. Estimates ranged from 110 million to 1.5 billion.
Tuesday, August 31, 2004
Experiences at ANCA(R) 2004
The nice folks at the ANCA(R) Foundation in Vancouver, B.C., asked me to write a few words on my experiences at this year's autism conference and surrounding events. Some of the details are a bit specific to that community, but I hope you all will still enjoy my remarks that are reproduced below.
Lars
-----
EXPERIENCES AT ANCA® 2004
By Lars Perner
lperner@mail.sdsu.edu
http://www.LarsPerner.com
Blog: http://delightfulreflections.blogspot.com
This summer was the first time I did not have to rush back from the ANCA® summer conference to another conference or teaching summer school, so I got to spend two weeks this year. Two weeks sounds like a long time, but how fast they went by! To make a shameless commercial plug, I am greatly looking forward to November.
Before the conference, Leonora was scheduled to speak to a group of professionals and paraprofessionals in Maple Ridge. You all know better than I do where that is—I don’t have much of a sense of direction—but it involves some travel away from Vancouver in one of the four geographic directions. Well, I guess I can eliminate West for logistical reasons. Individuals in this group worked with people with a variety of conditions—not just those on the autistic spectrum. It is important, however, to try to share what we have learned in the autism setting with others who may be able to adapt the ideas to their needs. The world needs the best and the brightest to work on autism, but we can only spare the best and the brightest. Others are needed to work on other challenges. We, in turn, can benefit from what they bring from other settings, and the questions they bring and the points they raise in discussions can help inspire our thinking.
Leonora presented a number of ideas based on her experience and the group had some interesting discussions. One topic that came up was that of terminology used to describe our population. Some people feel that using the term “autistic” is too much of a label. Leonora pointed out, however, that few people in the group would feel all that uncomfortable being “labeled” as Canadians. My preferred term is “individual on the autistic spectrum” since, to me, this description seems to emphasize individual differences. But terminology, ultimately, is a matter of taste and it really isn’t something that should distract us too much from important issues. On other occasions, I have heard people object to the spectrum term, suggesting that this sounds like something from which one could fall off. I am not particularly worried, however, since gravity on the spectrum seems to be quite adequate. Not necessarily enough to be constraining, but enough for me not to be worried even though I have neither strings nor a safety net as backup.
We also had discussions of challenges faced with specific individuals. To be on the safe side with respect to confidentiality, I am not going to mention anything specific here, but suffice it to say that people seemed quite flexible in responding to individual needs. One parent, for example, raised a question about a son who was unwilling to dispose of an “obsolete” piece of furniture. She was quite content not to force disposal, but wanted to be sure inevitable problems would not be merely postponed by keeping the redundant item.
The autism community needs a variety of different kinds of people, and for my part, I am essentially a pure theoretician. I have little practice working with actual individuals although people often find my ideas useful. This is one of the reasons that I always learn a great deal at ANCA® events where the staff actually has to work with “nuts and bolts” issues of real people. I get to go home and relax after writing and talking, but not so for the staff or parents. So, I in turn get a little more insight—and a bit of a reality check—each time I see “the practitioners” at work.
Shuttling back and forth between Vancouver and the Sunshine Coast was an idyllic experience. Before the conference, we had the support group event and preparations for the reception and conference. Before the reception, we got to put the finishing touches on the new ANCA® headquarters and two client groups had their very creative presentations. We got to meet numerous interesting individuals at the reception. Isn’t it ironic that autism conferences are often major social events?
During the conference, Stephen and I offered a great deal of wisdom, and those who attended genuinely received a treat. In return, participants also contributed interesting ideas. The great news is that those of you who attend the November conference will get even more stuff crammed into the seminar. Stephen and I will try—and I emphasize the word “try”—to be a bit more concise. Leonora and Charlie will then address how some of the more theoretical ideas discussed fit into practical programs.
After the conference, we had a few days of respite, allowing Leonora, Charlie, and me to talk about new ideas. It was then off to the camping trip. Spending several days at a campsite that did not even feature Internet access wasn’t really all that bad—particularly since I got to check my e-mail once in the local shopping mall. Camping was a chance to see people in a different setting. We had some nice walks and talks. A lot of people participated in food preparations. Some misguided souls consumed a lot of toxic carbohydrates, but they seemed to survive the experience.
We had an interesting discussion about an advertising series that was running in the British media. There were some very grabbing ads dealing with issues such as literal thinking. The consensus seemed to be that the ads were a bit on the condescending side, but well intentioned. With some more enlightened explanatory text, they could work quite well.
As we returned from the camping, we were all exhausted, but Leonora, Charlie, and I still managed a bit more brainstorming.
This summer played at least a modest part in helping make this a better world. The benefits will be reaped for years to come!
Lars
-----
EXPERIENCES AT ANCA® 2004
By Lars Perner
lperner@mail.sdsu.edu
http://www.LarsPerner.com
Blog: http://delightfulreflections.blogspot.com
This summer was the first time I did not have to rush back from the ANCA® summer conference to another conference or teaching summer school, so I got to spend two weeks this year. Two weeks sounds like a long time, but how fast they went by! To make a shameless commercial plug, I am greatly looking forward to November.
Before the conference, Leonora was scheduled to speak to a group of professionals and paraprofessionals in Maple Ridge. You all know better than I do where that is—I don’t have much of a sense of direction—but it involves some travel away from Vancouver in one of the four geographic directions. Well, I guess I can eliminate West for logistical reasons. Individuals in this group worked with people with a variety of conditions—not just those on the autistic spectrum. It is important, however, to try to share what we have learned in the autism setting with others who may be able to adapt the ideas to their needs. The world needs the best and the brightest to work on autism, but we can only spare the best and the brightest. Others are needed to work on other challenges. We, in turn, can benefit from what they bring from other settings, and the questions they bring and the points they raise in discussions can help inspire our thinking.
Leonora presented a number of ideas based on her experience and the group had some interesting discussions. One topic that came up was that of terminology used to describe our population. Some people feel that using the term “autistic” is too much of a label. Leonora pointed out, however, that few people in the group would feel all that uncomfortable being “labeled” as Canadians. My preferred term is “individual on the autistic spectrum” since, to me, this description seems to emphasize individual differences. But terminology, ultimately, is a matter of taste and it really isn’t something that should distract us too much from important issues. On other occasions, I have heard people object to the spectrum term, suggesting that this sounds like something from which one could fall off. I am not particularly worried, however, since gravity on the spectrum seems to be quite adequate. Not necessarily enough to be constraining, but enough for me not to be worried even though I have neither strings nor a safety net as backup.
We also had discussions of challenges faced with specific individuals. To be on the safe side with respect to confidentiality, I am not going to mention anything specific here, but suffice it to say that people seemed quite flexible in responding to individual needs. One parent, for example, raised a question about a son who was unwilling to dispose of an “obsolete” piece of furniture. She was quite content not to force disposal, but wanted to be sure inevitable problems would not be merely postponed by keeping the redundant item.
The autism community needs a variety of different kinds of people, and for my part, I am essentially a pure theoretician. I have little practice working with actual individuals although people often find my ideas useful. This is one of the reasons that I always learn a great deal at ANCA® events where the staff actually has to work with “nuts and bolts” issues of real people. I get to go home and relax after writing and talking, but not so for the staff or parents. So, I in turn get a little more insight—and a bit of a reality check—each time I see “the practitioners” at work.
Shuttling back and forth between Vancouver and the Sunshine Coast was an idyllic experience. Before the conference, we had the support group event and preparations for the reception and conference. Before the reception, we got to put the finishing touches on the new ANCA® headquarters and two client groups had their very creative presentations. We got to meet numerous interesting individuals at the reception. Isn’t it ironic that autism conferences are often major social events?
During the conference, Stephen and I offered a great deal of wisdom, and those who attended genuinely received a treat. In return, participants also contributed interesting ideas. The great news is that those of you who attend the November conference will get even more stuff crammed into the seminar. Stephen and I will try—and I emphasize the word “try”—to be a bit more concise. Leonora and Charlie will then address how some of the more theoretical ideas discussed fit into practical programs.
After the conference, we had a few days of respite, allowing Leonora, Charlie, and me to talk about new ideas. It was then off to the camping trip. Spending several days at a campsite that did not even feature Internet access wasn’t really all that bad—particularly since I got to check my e-mail once in the local shopping mall. Camping was a chance to see people in a different setting. We had some nice walks and talks. A lot of people participated in food preparations. Some misguided souls consumed a lot of toxic carbohydrates, but they seemed to survive the experience.
We had an interesting discussion about an advertising series that was running in the British media. There were some very grabbing ads dealing with issues such as literal thinking. The consensus seemed to be that the ads were a bit on the condescending side, but well intentioned. With some more enlightened explanatory text, they could work quite well.
As we returned from the camping, we were all exhausted, but Leonora, Charlie, and I still managed a bit more brainstorming.
This summer played at least a modest part in helping make this a better world. The benefits will be reaped for years to come!
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