Below is part of my comment to a mother with a son who has autism in his mid-20s.
=============
I am trying to track down the transformation of my son when he was still
so young going up to his current age because I want him to function as
normal as possible just like us. I have not given up that idea. Hence, I
taught him and still am teaching him from academics to life skills. He
goes to a school in a classroom for children with LLD. However, the
school right now wants to kick him out to a Multiply-Disabled and/or ABA
classroom. Well, I am still fighting that. It seems like that students
with autism in NJ are usually being just prepared for life skills so I
can not understand the fact that NJ has best schools for children with
autism. I want kids to learn, be taught and be knowledgeable to prepare
them for life but I saw also in one of your videos that you did not like
the idea of teaching him how to use the seat belt and how to open the
car as he might bolt out. I understand the issues for some people who
have a tendency to elope but sometimes, teaching them what should be
done over and over, they will surely get it into their heads. Well, I
believe so much in children or adults with autism that they can function
like us if we and the people around them just give them the chance to
learn. Learning is a lifelong process for all people. We constantly
learn things, if we do not, then life can be boring and useless.
Somehow, I am still full of hopes no matter what happens but of course,
at the back of my mind, there are still worries of what will happen when
he grows up and such. Then, I reminded myself back when I was young,
even though, there were no apparent disabilities in me and with my
siblings, we were extremely poor. I would worry so much where we will
get our next food, if we will be able to go to college. Life is always
uncertain and that makes it interesting for we can devise what we will
do next if one fails or is not what we expected. I know, there is still a
long road ahead but I try not to think of it too much so it will take
its own course.
Sunday, December 7, 2014
Tuesday, January 28, 2014
Some Private Schools in Northern NJ for Children with Autism
I have written this way back in first to 2nd quarter of 2012 in our quest for a private school that have the benefits of being with neuro-typical students housed in the same building. In northern NJ, many of them or shall I say, almost all of them, the private schools do not have a mixture of neuro-typical and students with disabilities. I do not like this set-up because we are not living in a segregated world just like the stark experiences of Blacks and Whites. Students with disabilities have to be incorporated or included in this world of ours. Of course, there are parents who have different views but all we want is what is best for our children.
==============
We have been looking for a private school for AX and so far, we have seen three of them within the county. We are looking for a school that somehow mirrors what he has in the public school and that is, surrounded by neuro-typical children. I know I would not find one but still I put aside the doubts and hope that there is something in the private schools that AX may be able to fit in. As expected, the private schools we visited are not suited for him although one has humane touch in it but enriching the mind is far from their goals. I was told that all schools know that their children will not reach or go to college. I am not saying that going to college is the ultimate goal. I just want AX to enjoy what other kids of his age are enjoying. In this coming school year, we will take AX back to his school. I hope for the best.
The South Bergen Jointure Commission (SBJC) in Lodi is located in front of a nunnery and beside a small cemetery perhaps, for the nuns. The assistant principal is knowledgeable and explained to us their mission/services. SBJC houses students with autism and children with multiple disabilities until age 21. It is a pretty neat place but very empty. It has more classrooms and staffs than students studying there. I got alarmed with this ratio. The Math room, computer room, PE rooms were vacant. The computer teacher was busy poking his cellphone and immediately hid it the moment he saw us coming. There were no students inside. The Math room is quite neat since the textbooks and exercise books are hardly untouched. We saw some students who were the ages of AX and they are probably Jewish. The students went in front of the nunnery building where there is a gazebo and well-manicured grass/lawn. The scene reminds me of the movie, Shutter Island, when Leonardo went to the mental hospital to do some investigation. He and his colleague passed by the widespread beautiful lawn where the mentally-ill patients are busy doing their businesses.
The second private school we visited was Phoenix Center in Nutley, NJ. It was really a pain to go here from our place just like the third private school that I will mention later. It was raining heavily on the day of our visit. The drive in Garden State Parkway was like visiting Hades and I had to make sure to read every exit. It was hard to find a parking space when I finally located the school. I saw the front of the school and parked in front just like all the other cars of parents or their helpers taking the kids to school. Many arrived late due to the inclement weather. The front office has this stern lady whose voice reminds me of the lead actress in 101 Dalmatians. The case manager or the person-in-charge arrived late and somehow immediately showed us the classrooms. The children with disabilities were mostly young. It was nice to see that set-up and any parents would immediately fall to help and still aim for a better future. There are also classrooms with children who are restrained. One child was far away from his peers and was with his male assistant. We were told that the child would be overwhelmed when he is with the group so he was seated within a significant distance from the rest just like he has leprosy. On another side note, the building is very suffocating. Its windows are all closed. If I am not mistaken, the gym is underground and there is another level below that they are using. Actually, my head hurt during the tour.
Our third private school is in Montclair, NJ. The school is called Sawtelle Learning Center. It is somehow affiliated with YCS. I view children with autism no matter how wild, how disconnect, how timid, how muted, how talkative as children who can still think. During and after visiting Sawtelle, all my fears of what other people are doing to children with autism came into light. You see, a floor below the main office is a room where we saw a kid blocked in a corner with a table and two female adults were somehow restraining him. The poor black boy was being hurt. The older female grabbed the boy's head and tilted it backwards. The boy was fighting back and shouting. All the while that this was happening I noticed that the lights were off. The moment our backs were facing them the lights were on. It was hard to see how a skimpy kid is restrained by two female adults. It is just not right. In one classroom, the teen boy was wimping and we asked his age. He managed to answer. The principal said, he is just acting up (in reference to his wimping). One big boy in his teenage years was on his seat and on his desk was a piece of paper. He is tasked to do adding single digits just like Kindergarteners. I can not believe how low these people in the school think of these kids but it is really disheartening to see the kids who are rocking on their seats and looking blankly on the walls. The staff members are adequate in number, I think. It is just that when we went there, it seems like the kids were all over. Many are not attended adequately. A big boy in his teens was on the floor for quite some time and the 2 teachers are on their nerves most likely because the visitors (us and another parent) were there. It was disheartening to see him in that state and all the others are looking at us like they have seen for the first time some people outside of the building.
We went to a fourth school and I believe, it is Washington South Program in Paramus. This is a public school. If I am not mistaken, this building is like a hospital from the outside and it is surrounded by different government offices. Once we got here, the place is like entering a hospital for the mentally-ill people! In one hallway, we passed by a boy who did not want to go with the paraprofessional so he dropped himself to the floor. The paraprofessional was having a hard time dealing with the student who was about less than 10 years of age. I noticed that in one classroom with young kids like 5 years old, the atmosphere was good. It seems like the personnel believe that these students with disabilities can still be rescued or helped. That is always the case in many public and private schools I have been into. However, as the students age, the desire to educate them (with modifications or significant modifications) just like they are typical students, lessen. It is just sad. The school has a big gym and also an OT kind of room. I think, AX was with me when we were seeing this school as I remember he wanted to play with some of the furniture/toys in the OT room. The lady in-charge is accommodating but somehow reserved. If I remember correctly, many of the students there stay for good and will not or have not been returned to their respective districts.
==============
We have been looking for a private school for AX and so far, we have seen three of them within the county. We are looking for a school that somehow mirrors what he has in the public school and that is, surrounded by neuro-typical children. I know I would not find one but still I put aside the doubts and hope that there is something in the private schools that AX may be able to fit in. As expected, the private schools we visited are not suited for him although one has humane touch in it but enriching the mind is far from their goals. I was told that all schools know that their children will not reach or go to college. I am not saying that going to college is the ultimate goal. I just want AX to enjoy what other kids of his age are enjoying. In this coming school year, we will take AX back to his school. I hope for the best.
The South Bergen Jointure Commission (SBJC) in Lodi is located in front of a nunnery and beside a small cemetery perhaps, for the nuns. The assistant principal is knowledgeable and explained to us their mission/services. SBJC houses students with autism and children with multiple disabilities until age 21. It is a pretty neat place but very empty. It has more classrooms and staffs than students studying there. I got alarmed with this ratio. The Math room, computer room, PE rooms were vacant. The computer teacher was busy poking his cellphone and immediately hid it the moment he saw us coming. There were no students inside. The Math room is quite neat since the textbooks and exercise books are hardly untouched. We saw some students who were the ages of AX and they are probably Jewish. The students went in front of the nunnery building where there is a gazebo and well-manicured grass/lawn. The scene reminds me of the movie, Shutter Island, when Leonardo went to the mental hospital to do some investigation. He and his colleague passed by the widespread beautiful lawn where the mentally-ill patients are busy doing their businesses.
The second private school we visited was Phoenix Center in Nutley, NJ. It was really a pain to go here from our place just like the third private school that I will mention later. It was raining heavily on the day of our visit. The drive in Garden State Parkway was like visiting Hades and I had to make sure to read every exit. It was hard to find a parking space when I finally located the school. I saw the front of the school and parked in front just like all the other cars of parents or their helpers taking the kids to school. Many arrived late due to the inclement weather. The front office has this stern lady whose voice reminds me of the lead actress in 101 Dalmatians. The case manager or the person-in-charge arrived late and somehow immediately showed us the classrooms. The children with disabilities were mostly young. It was nice to see that set-up and any parents would immediately fall to help and still aim for a better future. There are also classrooms with children who are restrained. One child was far away from his peers and was with his male assistant. We were told that the child would be overwhelmed when he is with the group so he was seated within a significant distance from the rest just like he has leprosy. On another side note, the building is very suffocating. Its windows are all closed. If I am not mistaken, the gym is underground and there is another level below that they are using. Actually, my head hurt during the tour.
Our third private school is in Montclair, NJ. The school is called Sawtelle Learning Center. It is somehow affiliated with YCS. I view children with autism no matter how wild, how disconnect, how timid, how muted, how talkative as children who can still think. During and after visiting Sawtelle, all my fears of what other people are doing to children with autism came into light. You see, a floor below the main office is a room where we saw a kid blocked in a corner with a table and two female adults were somehow restraining him. The poor black boy was being hurt. The older female grabbed the boy's head and tilted it backwards. The boy was fighting back and shouting. All the while that this was happening I noticed that the lights were off. The moment our backs were facing them the lights were on. It was hard to see how a skimpy kid is restrained by two female adults. It is just not right. In one classroom, the teen boy was wimping and we asked his age. He managed to answer. The principal said, he is just acting up (in reference to his wimping). One big boy in his teenage years was on his seat and on his desk was a piece of paper. He is tasked to do adding single digits just like Kindergarteners. I can not believe how low these people in the school think of these kids but it is really disheartening to see the kids who are rocking on their seats and looking blankly on the walls. The staff members are adequate in number, I think. It is just that when we went there, it seems like the kids were all over. Many are not attended adequately. A big boy in his teens was on the floor for quite some time and the 2 teachers are on their nerves most likely because the visitors (us and another parent) were there. It was disheartening to see him in that state and all the others are looking at us like they have seen for the first time some people outside of the building.
We went to a fourth school and I believe, it is Washington South Program in Paramus. This is a public school. If I am not mistaken, this building is like a hospital from the outside and it is surrounded by different government offices. Once we got here, the place is like entering a hospital for the mentally-ill people! In one hallway, we passed by a boy who did not want to go with the paraprofessional so he dropped himself to the floor. The paraprofessional was having a hard time dealing with the student who was about less than 10 years of age. I noticed that in one classroom with young kids like 5 years old, the atmosphere was good. It seems like the personnel believe that these students with disabilities can still be rescued or helped. That is always the case in many public and private schools I have been into. However, as the students age, the desire to educate them (with modifications or significant modifications) just like they are typical students, lessen. It is just sad. The school has a big gym and also an OT kind of room. I think, AX was with me when we were seeing this school as I remember he wanted to play with some of the furniture/toys in the OT room. The lady in-charge is accommodating but somehow reserved. If I remember correctly, many of the students there stay for good and will not or have not been returned to their respective districts.
Starting B6 and Magnesium
Some days are noisy and some days are just whispers that you could hardly decipher what is being told. Have been away from writing as I just put my thoughts in my e-mail and let things pile up there. Many times, it is the best so people will not misconstrue.
Going two weeks now, we started B6 and Mg on AX and somehow, we are starting to see some differences or changes in his behavior. We give him 100 mg of B6 and 250 mg of Mg per day. He is much, much calmer and has less of the mannerism he does on his hands/fingers all the time. He rarely does his "antics" of doing whatever things over and over and over again. A good example of this is open and close the book several times that you would be affected as he does not stop. He stopped things @ his own pace and when we intervened, it means protest on his part. Since last, last week, he does not pluck his eyebrows and eyelashes so these hairs are growing back again. The changes we see in him make us happy and calm.
He is still not yet a communicator that you would expect for a boy of his age. We keep on hoping though and that is what matters. We do not medicate him and this is the least of the things we have on our minds in order to help him.
AX is almost 12.5 years of age and his body and voice had changed. He is taller @ 5 feet and 1 inch and thinner compared to years before of being chubby. He has undergone puberty faster than I anticipated it. I think, I started noticing body changes when he turned 11 years old. It is still young age to enter puberty though I know adolescence period is around the corner.
He likes Caucasian girls or shall I say, he prefers them. He likes Katy Perry, Pink, Lady Gaga and some of the songs of Adele. He listens to Get Lucky by Daft Punk and Wrecking Ball of a young performer.
He likes going to coolmath website and keeps on typing on google.com for words he does not know or for things or words he likes to search or know more about. He uses the images section of google.com to help him understand something. He plays Minecraft together with his brother, sister and father. This is his current top favorite thing to do. Hence, he keeps asking for the tablet.
He eats more fruits like strawberry, banana, apple, grape, orange, melon, watermelon, blueberry and mango. I give him and his brother their morning fruits on the plate before they eat their rice, hotdog and egg. The egg is usually mixed with mixed vegetables or potatoes or tomatoes and onion. He gets less to nothing of sugary foods and I make sure, he does not indulge. I would rather throw the ice cream than have him consume it all. The kids' viand usually have vegetables even though the second boy complains a bit. AX eats the vegetables with zest.
We have volunteered him to be part of a research study @ Albert Einstein Medical Center in Bronx. It started last 12/2013 and this 2/2014, we will go back there again.
As usual, we are still sparring with the school in terms of placement. The school wants to put him in MD and remove him from his present LLD. I do not think, problems with school will ever be gone and remember the people here should know better but they want to segregate students with disabilities from the general population. You can not tell me differently as this is the 3rd state we have lived in and we have the same problems or issues with the schools. I will relate more on this in another post.
Going two weeks now, we started B6 and Mg on AX and somehow, we are starting to see some differences or changes in his behavior. We give him 100 mg of B6 and 250 mg of Mg per day. He is much, much calmer and has less of the mannerism he does on his hands/fingers all the time. He rarely does his "antics" of doing whatever things over and over and over again. A good example of this is open and close the book several times that you would be affected as he does not stop. He stopped things @ his own pace and when we intervened, it means protest on his part. Since last, last week, he does not pluck his eyebrows and eyelashes so these hairs are growing back again. The changes we see in him make us happy and calm.
He is still not yet a communicator that you would expect for a boy of his age. We keep on hoping though and that is what matters. We do not medicate him and this is the least of the things we have on our minds in order to help him.
AX is almost 12.5 years of age and his body and voice had changed. He is taller @ 5 feet and 1 inch and thinner compared to years before of being chubby. He has undergone puberty faster than I anticipated it. I think, I started noticing body changes when he turned 11 years old. It is still young age to enter puberty though I know adolescence period is around the corner.
He likes Caucasian girls or shall I say, he prefers them. He likes Katy Perry, Pink, Lady Gaga and some of the songs of Adele. He listens to Get Lucky by Daft Punk and Wrecking Ball of a young performer.
He likes going to coolmath website and keeps on typing on google.com for words he does not know or for things or words he likes to search or know more about. He uses the images section of google.com to help him understand something. He plays Minecraft together with his brother, sister and father. This is his current top favorite thing to do. Hence, he keeps asking for the tablet.
He eats more fruits like strawberry, banana, apple, grape, orange, melon, watermelon, blueberry and mango. I give him and his brother their morning fruits on the plate before they eat their rice, hotdog and egg. The egg is usually mixed with mixed vegetables or potatoes or tomatoes and onion. He gets less to nothing of sugary foods and I make sure, he does not indulge. I would rather throw the ice cream than have him consume it all. The kids' viand usually have vegetables even though the second boy complains a bit. AX eats the vegetables with zest.
We have volunteered him to be part of a research study @ Albert Einstein Medical Center in Bronx. It started last 12/2013 and this 2/2014, we will go back there again.
As usual, we are still sparring with the school in terms of placement. The school wants to put him in MD and remove him from his present LLD. I do not think, problems with school will ever be gone and remember the people here should know better but they want to segregate students with disabilities from the general population. You can not tell me differently as this is the 3rd state we have lived in and we have the same problems or issues with the schools. I will relate more on this in another post.
Friday, May 25, 2012
Fetal Gene Abnormalities May Cause Autism
Source: http://www.ucsdguardian.org/component/k2/item/25751-fetal-gene-abnormalities-may-cause-autism
Wednesday May 23, 2012 - 10:35PM
Courchesne and his team used frozen brain tissue from the prefrontal cortex of autistic children, aged two to four, and control children who are not autistic, who had passed away to analyze brain tissue gene expression. The prefrontal cortex is the part of the brain responsible for cognitive communication and social development, and its development is abnormal in autistic children. They found that a large number of genes that control the number of brain cells were expressed incorrectly.
Many studies have shown that brain cells in autistic individuals may be too small and undeveloped. After cells are born, they differentiate into specific types of brain cells that are in charge of the different types of information processing. The abnormalities in these cells occur in the second and third trimester of pregnancy, the time span during which most brain cells are created.
“This evidence indicates that biological abnormalities in autism began in the prenatal stage and that the biological abnormalities of autism are complex,” Courchesne said. “They involve a number of large networks or systems in genes and then the regulation of those systems with too much or too little gene activity in those genes is responsible.”
They found evidence that many of the abnormally expressed genes correctly copied DNA during cell divisions. This suggests that the DNA defects associated with autism may not be detected while cells are dividing during prenatal cell development.
“Those DNA defects may creep into new cells that are being generated during prenatal development,” Courchesne said. “Those DNA defects may alter the functional integrity of brain cells.”
The first set of genes that were functionally abnormal was the sets of genes that regulate the number of brain cells. Courchesne said this may explain why many people with autism have an excess number of brain cells in the prefrontal area, and why the abnormal activity involved in DNA checking and correction may explain why some brain cells do not function correctly.
The team then found abnormal activity of genes in the blocks of frontal tissue that regulate the organizational patterning of the brain. They found abnormal activity in the genes that regulate the further development of cells. Courchesne said they think this could explain why autism affects cognitive functions.
About a decade ago, it was discovered that at young ages, the majority of autistic individuals have a brain that is too big. As the child develops and matures, there appears to be a loss of brain tissue. Courchesne and his team found evidence that there may be a growing loss of neurons in autistic individuals. The normal spacing of neurons begins to become more irregular, suggesting irregular locations of loss due to loss of brain tissue.
The team then looked at adults with autism and found different signatures of gene activity that point to loss of cells and remodeling of brain conditions.
“What we don’t know is whether those changes are improving connections or removing maladaptation connections, we just don’t know,” Courchesne said. “But we do know there’s a different profile that suggests some kind of remodeling. And whether it’s ultimately beneficial or not remains for future studies to figure out.”
Another part of their study discovered evidence that would explain why autism is genetically different in every individual with autism. There was overlap within the network in the brain to other individuals with autism, but it was incomplete. Each person has his own set of genes within a network that were the most effective. Then another person has a somewhat overlapping, but different set of genes within the same network.
These genetic networks with abnormalities are the cause of autism. It can be confusing to understand the genes involved in autism because each person with autism has a different set of genes within the same network.
“That’s probably why it’s so hard to understand what’s been so hard to get at the genetic root basis of autism,” Courchesne said.
Wednesday May 23, 2012 - 10:35PM
Fetal Gene Abnormalities May Cause Autism
Written by Rebecca Horwitz Researchers have discovered genetic pathways in autistic brains that affect its development and offer a possible explanation for how the disorder develops. Director of the Autism Center of Excellence at the UCSD School of Medicine Eric Courchesne led the study, published March 23 in PLoS Genetics. The study found that several of the genetic networks that play a role in the management of early brain development function abnormally in the frontal cortex of an autistic brain.
Courchesne and his team used frozen brain tissue from the prefrontal cortex of autistic children, aged two to four, and control children who are not autistic, who had passed away to analyze brain tissue gene expression. The prefrontal cortex is the part of the brain responsible for cognitive communication and social development, and its development is abnormal in autistic children. They found that a large number of genes that control the number of brain cells were expressed incorrectly.
Many studies have shown that brain cells in autistic individuals may be too small and undeveloped. After cells are born, they differentiate into specific types of brain cells that are in charge of the different types of information processing. The abnormalities in these cells occur in the second and third trimester of pregnancy, the time span during which most brain cells are created.
“This evidence indicates that biological abnormalities in autism began in the prenatal stage and that the biological abnormalities of autism are complex,” Courchesne said. “They involve a number of large networks or systems in genes and then the regulation of those systems with too much or too little gene activity in those genes is responsible.”
They found evidence that many of the abnormally expressed genes correctly copied DNA during cell divisions. This suggests that the DNA defects associated with autism may not be detected while cells are dividing during prenatal cell development.
“Those DNA defects may creep into new cells that are being generated during prenatal development,” Courchesne said. “Those DNA defects may alter the functional integrity of brain cells.”
The first set of genes that were functionally abnormal was the sets of genes that regulate the number of brain cells. Courchesne said this may explain why many people with autism have an excess number of brain cells in the prefrontal area, and why the abnormal activity involved in DNA checking and correction may explain why some brain cells do not function correctly.
The team then found abnormal activity of genes in the blocks of frontal tissue that regulate the organizational patterning of the brain. They found abnormal activity in the genes that regulate the further development of cells. Courchesne said they think this could explain why autism affects cognitive functions.
About a decade ago, it was discovered that at young ages, the majority of autistic individuals have a brain that is too big. As the child develops and matures, there appears to be a loss of brain tissue. Courchesne and his team found evidence that there may be a growing loss of neurons in autistic individuals. The normal spacing of neurons begins to become more irregular, suggesting irregular locations of loss due to loss of brain tissue.
The team then looked at adults with autism and found different signatures of gene activity that point to loss of cells and remodeling of brain conditions.
“What we don’t know is whether those changes are improving connections or removing maladaptation connections, we just don’t know,” Courchesne said. “But we do know there’s a different profile that suggests some kind of remodeling. And whether it’s ultimately beneficial or not remains for future studies to figure out.”
Another part of their study discovered evidence that would explain why autism is genetically different in every individual with autism. There was overlap within the network in the brain to other individuals with autism, but it was incomplete. Each person has his own set of genes within a network that were the most effective. Then another person has a somewhat overlapping, but different set of genes within the same network.
These genetic networks with abnormalities are the cause of autism. It can be confusing to understand the genes involved in autism because each person with autism has a different set of genes within the same network.
“That’s probably why it’s so hard to understand what’s been so hard to get at the genetic root basis of autism,” Courchesne said.
Published in SCIENCE AND TECHNOLOGY
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Wednesday, April 11, 2012
Nearing the end of the tunnel?
Source: http://www.boston.com/Boston/dailydose/2012/04/could-autism-reversed-with-pill/lk78SvP6Dn9qnR0lc3gvIM/index.html
Could autism be reversed with a pill?
E-mail| Print | Comments (5) 04/11/2012 1:41 PM
What if autism could be reversed with a pill?
A growing body of research in mice and a handful of people is finding that autism is not a degenerative disease like Alzheimer’s, but a changeable condition, like, say, epilepsy that can potentially be controlled.
A study out Wednesday in the journal Neuron found that medication could correct the health and behavior problems of mice with a genetic condition known to lead to autism in people. The drug, which acts on the synapses, or gaps, between brain cells, reversed a vast range of symptoms often associated with autism -- including lack of sociability, physical awkwardness, and hyperactivity.Most surprising, the drug worked on adolescent mice, showing that these symptoms are reversible even after the critical period of early brain development.
“I was thrilled,” said Mark Bear, the MIT neuroscientist who led the research.
Bear helped found a company, Seaside Therapeutics, which is currently studying a similar drug in people with Fragile X, a genetic condition that often leads to autism. The mice had the same genetic change as the people in the study. Roche and Novartis are also studying similar medications, with effectiveness trials due to be completed in about a year.
“I can’t tell you how exciting it is right now, and how anxiously I am awaiting the impact of these clinical trials,” Bear said. “It seems that in Fragile X and maybe other causes of autism there is essentially a metabolic problem.”
The problem in Fragile X, Bear said, seems to be that there are too many proteins being produced in the junctures between brain cells. Flooded with proteins from one brain cell, the receptors at another don’t know which protein to accept, and, essentially, a traffic jam results.
Bear said he was amazed, several years ago, when he realized that a tie-up between brain cells could cause the full range of symptoms found in autism.
“It truly is extraordinary that this receptor seems to give rise to so many aspects of the disease,” he said.
Bear’s isn’t the only research to suggest that autism may be reversible, even beyond childhood.
In a 2007 study in the journal Science (covered in The Globe at the time), Adrian Bird from Edinburgh University reversed symptoms in adult mice with a different genetic glitch -- which leads to another autism-like condition in people, called Rett Syndrome. Using medication to turn back on the gene that is turned off in Rett Syndrome “leads to striking loss of advanced neurological symptoms in both immature and mature adult animals,” Bird’s study concluded.
Last month, another study -- this time in Nature -- found that Rett’s devastating symptoms could be stopped in mice if they got a bone marrow transplant. This suggests that the immune system plays a role in Rett.
Mice with Rett syndrome normally live about weeks, but given a bone marrow transplant from healthy mice, they live much longer -- at least some of them are still alive nearly a year later, said Noel C. Derecki, the research fellow who led the study at the School of Medicine at the University of Virginia.
Derecki, and senior author Jonathan Kipnis, an associate professor at Virginia, said their work suggests that the loss of the MECP2 gene seen in Rett impairs the brain’s ability to “take out the trash.”
“These cells need to be cleaned up, so debris doesn’t build up,” said Derecki, whose grandfather ran a garbage collection business. By reinforcing the immune system with a bone marrow transplant, the researchers restored the mouse brain’s ability to take out the trash.
Again, their conclusion was that autism is likely changeable throughout life -- that the behavior we see in people with autism is due to brain malfunctions but not brain damage.
The next step is to take their research into people, figuring out what kind of treatment will be most helpful. It’s not yet clear either whether the findings in Rett and Fragile X will extend to the roughly 85 percent of those with autism who don’t have an obvious genetic glitch.
Bear says that the findings of reversibility in older animals is good news for drug testing, because it’s much easier to study drugs on adults than children.
Also, he said, a drug alone may not be enough.
Mice given the drug for four months improved far more than those given it for just a month -- suggesting, he said, that the brain needs to adapt once its biological problems have been resolved.
In people, Bear said, “it’s not just the drug that’s going to lift the veil [of autism], but it’s going to allow the veil to be lifted with appropriate behavioral therapy. And that’s really what we’re aiming for.”
Karen Weintraub can be reached at Karen@KarenWeintraub.com.Sunday, April 1, 2012
Chromosome 16
Source: http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2012/03/30/MNPU1NS5LL.DTL&type=science
Read more: http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2012/03/29/BAPU1NS5LL.DTL#ixzz1qpeeUA4U
Autism: UCSF zeroes in on rare chromosome defect
Friday, March 30, 2012
Christopher Mahar, a 14-year-old from Oregon whose autism may be caused by a rare chromosome defect, prepares for a scan at UCSF to follow his brain activity.
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When her son was diagnosed with a rare chromosome defect three years ago, it was something of a relief for Theresa Mahar.
Finally, she had an explanation. Christopher, now 14, had obvious developmental delays and intellectual disabilities. He had behavior problems and struggled in school. He'd been assigned so many diagnoses over the years - almost all of them related to autism - that it was sometimes hard to keep up.
Then a genetic test revealed the defect to chromosome 16 - one of the 23 chromosomes that make up every person's DNA - and it explained, perhaps, the cause of Christopher's autism.
"It's something to hold on to," Theresa Mahar said. "It's something to blame."
Mahar and her family came to San Francisco from Hillsboro, Ore., this week to participate in an unusual study at UCSF - to map in great detail the brains of people who have a defect to chromosome 16.
The study is one of the first in which autism researchers are narrowing their focus into one of the few known causes of the disorder. That's important, scientists say, because autism is such a difficult condition to define - the symptoms can vary widely from patient to patient, and the causes are often impossible to determine.
Different mechanisms
Autism may be a collection of similar conditions, rather than one single disorder, researchers say. That means that studying patients with autism as it's now defined often produces mixed results - the brain scan of a child with one genetic cause of autism may look very different from the scan of an autistic child with no genetic cause.
"It may be that there are different mechanisms depending on the underlying biology of autism," said Dr. Elliott Sherr, who heads the study at UCSF. "If you study a group and they have the same biology and underlying genetics, in theory that should clean things up a bit."
The study at UCSF is part of a five-center clinical trial funded by the private Simons Foundation. Researchers plan to study at least 200 volunteers with the chromosome 16 defect.
Both Christopher and his father, Robert Mahar, have the same defect. In their case, a tiny section of the chromosome known as the 16p11.2 segment is duplicated. Robert Mahar is not diagnosed with autism, but he struggled in school and now wonders if he had learning disabilities related to chromosome 16.
Scientists were able to identify the connection between the specific chromosome 16 defects and autism using relatively new supersensitive genetic testing tools. Chromosome 16 defects are thought to cause about 1 percent of all cases of autism in the United States, affecting roughly 30,000 children.
On Wednesday and Thursday this week, both Christopher and Robert Mahar had a magnetic resonance imaging (MRI) scan to map the structure of their brains. They also had a magnetoencephalograph (MEG) scan, which follows brain activity and lets scientists see what parts of the brain "light up" when patients are doing certain tasks or thinking about specific topics.
Seeking treatment clues
For example, one problem often associated with autism is an inability to tell faces apart. So Christopher and his father spent several minutes in the MEG scanner looking at pictures of faces while doctors studied their brain activity. The results will be compared with scans of people without the chromosome defect.
Sherr said he hopes the collection of scans from similar patients will paint a clear picture of what happens in the brains of people with this specific defect. Then, scientists can use that information to get a better understanding of what might be causing autism in those patients - and better yet, how it might be treated.
For now, few standard treatments exist for autism beyond behavioral therapy. Some drugs work, but not for everyone, and often not very well. Even the behavioral therapy could be better tailored to the individual patient if doctors better understood what was causing the problem, said Dr. Linda Lotspeich, a psychiatrist with the Autism and Developmental Disorders Clinic at Lucile Packard Children's Hospital at Stanford.
"Those targeted treatments could be more sophisticated behavioral treatments than we currently have, and they could be biological treatments," Lotspeich said.
The Mahars said they don't expect the current research to help their son immediately. It's been frustrating trying to get help for Christopher, Theresa Mahar said. Even finding a doctor who has heard of the chromosome 16 defect has been tough.
Sitting in a conference room at the end of the day Wednesday, the Mahars were exhausted. Christopher and Robert Mahar had been going through tests all morning and afternoon, and Theresa Mahar and the couple's daughter, Caitlin, were stuck at the hospital.
Helping other children
When his last psychiatric evaluation was done, Christopher begged for a toy from the scientists and asked if the family could go to the zoo. Maybe on another trip, Theresa Mahar said - they still had another day of testing before going home.
She said she understands that Christopher may never directly benefit from the research being done now, and Robert Mahar said the goal is to "figure out something for other kids down the road."
"But for my part, participating in this research is being selfish," Theresa Mahar said. "It's about how we can help my son."
Details on disorder
For more information about the chromosome 16 and autism research at UCSF, including how to volunteer for the study, go to links.sfgate.com/ZLIP.
Erin Allday is a San Francisco Chronicle staff writer. eallday@sfchronicle.com
This article appeared on page A - 1 of the San Francisco Chronicle
Read more: http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2012/03/29/BAPU1NS5LL.DTL#ixzz1qpeeUA4U
Saturday, March 31, 2012
My thoughts about my child with autism
Some of my thoughts that I posted:
We are family who has one child with autism. It is not a smooth life but we learned how to cope with the challenges. Sometimes, there are always the downside due to behavior issues. However, we did not limit our son on what the school can teach. The schools in the US consider students with autism as dumb. They may not say it bluntly but since they can not immediately give answers nor be able to process information as fast as the neuro-typical children, they are always left behind in the curriculum. The parents have to fight this hard battle in order for the child with autism to be educated. We did not leave our son in the hands of the school to learn. If we did, he might be one of those who can not even go beyond Kindergarten level. We never believe in medicating our child just to conform with the etiquette of the society.
The author's purpose is not exactly to lighten up the load of the families who have kids with autism. It tells you that some of these kids with autism can really manage something that neuro-typicals can not. Every child with autism is as normal as the next door typical kid BUT since the society have managed to segregate them without regards to what they can really do, many of the children now with autism will really grow up as adults with autism who will be a burden to society since that is how they have been brought up.
Mr. _______, am glad your daughter is not on the lower end of the spectrum. That is good news. You just need to be patient with her and never lose the hope. Mind you, my spouse hardly knows how to tie shoelaces and buying slip-on shoes solved the problem. Just have to see the flip side. My spouse is not on the spectrum and in fact, a director in a very big bank. There are those little and many things still that hound our son but we have our feet on the ground and really strive for him to comprehend better. Every small things he can do, is an achievement for us (even though we want him to be faster). :))
Mr. _______, oh, where can we find a person like you in the school system? You see, we have been to 3 states and they basically treat children with autism all the same. Just imagine, teaching over and over Kindergarten stuffs when he is in higher grades just because he does not communicate? He talks but hardly communicates. He is too independent without a voice. We have seen classrooms of students with autism especially the ones on the ABA classes that are so barren that the empty space is suffocating us. We try to remind them of the phrase, "the mind is a terrible thing to waste." They respond with we see things in real terms only. In one classroom, the students with autism are just playing in the middle of school hours? There was not a single book in the classroom nor are there any writings on the board. In another classroom, they showed us their students with autism who are using the computers and are navigating in websites. However, they locked them with starfall website (K and 1 stuffs) and they are in 5th grade? We have met so many teachers and they are all fearing that students with autism who are taking the nationwide tests because they will surely flunk? Hence, we are on our toes with the school districts that we have encountered. By the way, his K teacher told me, he can not add one apple and one apple (two drawings of apple) so he can not do addition much more subtraction (We were asking the teacher to give him materials to compute in addition and subtraction). If we have believed the teacher, then our son will be forever dumb (We have to be blunt here because in all the schools we have been, their perception is that students with autism can not go higher in life. Hence, they want to lock them with life skills teaching.) with adding one apple and one apple. By 2nd grade, he is very good in multiplication more than the students of his age and older.
We are family who has one child with autism. It is not a smooth life but we learned how to cope with the challenges. Sometimes, there are always the downside due to behavior issues. However, we did not limit our son on what the school can teach. The schools in the US consider students with autism as dumb. They may not say it bluntly but since they can not immediately give answers nor be able to process information as fast as the neuro-typical children, they are always left behind in the curriculum. The parents have to fight this hard battle in order for the child with autism to be educated. We did not leave our son in the hands of the school to learn. If we did, he might be one of those who can not even go beyond Kindergarten level. We never believe in medicating our child just to conform with the etiquette of the society.
The author's purpose is not exactly to lighten up the load of the families who have kids with autism. It tells you that some of these kids with autism can really manage something that neuro-typicals can not. Every child with autism is as normal as the next door typical kid BUT since the society have managed to segregate them without regards to what they can really do, many of the children now with autism will really grow up as adults with autism who will be a burden to society since that is how they have been brought up.
Mr. _______, am glad your daughter is not on the lower end of the spectrum. That is good news. You just need to be patient with her and never lose the hope. Mind you, my spouse hardly knows how to tie shoelaces and buying slip-on shoes solved the problem. Just have to see the flip side. My spouse is not on the spectrum and in fact, a director in a very big bank. There are those little and many things still that hound our son but we have our feet on the ground and really strive for him to comprehend better. Every small things he can do, is an achievement for us (even though we want him to be faster). :))
Mr. _______, oh, where can we find a person like you in the school system? You see, we have been to 3 states and they basically treat children with autism all the same. Just imagine, teaching over and over Kindergarten stuffs when he is in higher grades just because he does not communicate? He talks but hardly communicates. He is too independent without a voice. We have seen classrooms of students with autism especially the ones on the ABA classes that are so barren that the empty space is suffocating us. We try to remind them of the phrase, "the mind is a terrible thing to waste." They respond with we see things in real terms only. In one classroom, the students with autism are just playing in the middle of school hours? There was not a single book in the classroom nor are there any writings on the board. In another classroom, they showed us their students with autism who are using the computers and are navigating in websites. However, they locked them with starfall website (K and 1 stuffs) and they are in 5th grade? We have met so many teachers and they are all fearing that students with autism who are taking the nationwide tests because they will surely flunk? Hence, we are on our toes with the school districts that we have encountered. By the way, his K teacher told me, he can not add one apple and one apple (two drawings of apple) so he can not do addition much more subtraction (We were asking the teacher to give him materials to compute in addition and subtraction). If we have believed the teacher, then our son will be forever dumb (We have to be blunt here because in all the schools we have been, their perception is that students with autism can not go higher in life. Hence, they want to lock them with life skills teaching.) with adding one apple and one apple. By 2nd grade, he is very good in multiplication more than the students of his age and older.
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