AGXStarseed
Well-Known Member
(Not written by me. I've also added the first comment to this article at the bottom of the page as it raises an interesting theory)
Not every disease or disorder is going to amenable to cure. Autism in particular has proven exceptionally difficult to understand. Genome sequencing might offer some druggable targets, but is unlikely to provide a wholesale cure. Early, reliable diagnosis is critical – but metabolic anarchy is the key to taking on autism.
Autism Spectrum Disorder (ASD) exists as a human phenomenon with numerous dimensions. For the child with autism, the world is a bewildering place, filled with assaults on the senses. The family sees a beloved child become frustrated in communication, challenged in forming relationships, and confined in an unsympathetic culture.
For public health, autism is a common phenomenon, one distributed throughout all strata of the population, with costly and lifelong impact. For society, it adds to the population’s neurodiversity but at the same time represents a disability characterized by limitations on productivity, vulnerability to discrimination and exploitation, and some measure of dependency requiring supervision, support and protection.
Over 70 years have elapsed since the independent descriptions of autism from the United States by Leo Kanner and from Austria by Hans Asperger. At the midpoint of this interval, autism was narrowly defined and uncommonly diagnosed. Greater awareness, availability of targeted services, changes in diagnostic criteria to include a broader spectrum of neurobehavioral abnormalities and possibly other factors have contributed to the greater than 30-fold increase in the frequency with which ASD is being diagnosed currently.
Autism has been slow to give up her secrets. Nonetheless, the extraordinary number of persons with this aberration in function of the central nervous system (over 3.5 million in the United States; possibly 70 million worldwide) demands inquiry and a pathway to prevention, amelioration or cure.
The Autism Program at the Greenwood Genetic Center (GGC) seeks to fundamentally change the approach to the diagnosis and treatment of autism. This transformation is necessary because of the failure of both traditional and recently emerged genetic and genomic technologies and practices to substantially alter the understanding, impact and prevalence of this complex neurobehavioral disability. To significantly impact this enigmatic disorder, two breakthroughs are essential. First is a reliable blood-based screening test that is not only reliable but can be used at any age, most importantly in the early years. Second is a treatment strategy with the potential to allow the person with autism to develop effective communication and social skills and to function independently. Clinicians and scientists involved in the Autism Program at GGC are confident that both breakthroughs are possible.
As no single genetic, genomic, or environmental influence has been found to account for more than 1-2% of cases of autism, the GGC’s Autism Program has pursued the study of at the collective effect of genetic and environmental factors on metabolism. The first clue that some measure of metabolic anarchy existed in the biology of autism came from the pioneering work of Charles Schwartz and Luigi Boccuto from the Center’s Division of Research. They documented perturbed metabolism of tryptophan in lymphoblasts from children with autism (Boccuto et al. 2013).
Anand Srivastava and Tim Wood pursued this lead further by exploring the differences in the global metabolic profile between children with autism and children who were developing typically. Among over 600 plasma metabolites examined, 25 showed distinct differences between the two populations. Various combinations of these metabolites form the basis for a blood-based test for the early detection or confirmation of autism.
At the same time, the identification of altered metabolites in children with autism provides a pathway to developing treatment strategies. Among other possibilities, various dietary and pharmacological manipulations that could return the altered metabolites toward normal or to mute their adverse biological effects are considerations for treatments.
Relative to the blood-based autism test, two major questions remain. First, how early in life are these distinctive metabolic profiles established in children with autism and children who are typically developing established? Based on our work, the answer lies somewhere between birth and age 2 years but more precise timing is required if the test is to be useful in the pre-symptomatic and very early symptomatic period. Second, and equally important, is whether a similar discriminating profile may be found in other non-developmental disorders.
The longitudinal participation of families with children who have autism and families with children who are typically developing has been essential to the progress in understanding this disability. To them, the GGC faculty and other families with children who have or will develop autism are indebted.
Reference
Boccuto, L., Chen, C., Pittman, A.R., Skinner, C.D., McCartney, H.J., Jones, K., Bochner, B.R., Stevenson, R.E., and Schwartz, C.E. Decreased tryptophan metabolism in patients with autism spectrum disorders. Molecular Autism 2013, 4:16
This article, authored by Dr Roger Stevenson, founder of Greenwood Genetic Centre, first appeared in Issue 5 of FLG magazine.
SOURCE: http://www.frontlinegenomics.com/2815/autism-prevention-or-cure/
FIRST COMMENT:
I was diagnosed with Asperger’s Syndrome in 1994 and after treatment I began coaching and counselling colleagues at work with similar symptoms to me on the office’s intranet system. Three years later they had all taken early retirement / voluntary redundancy due to the UN designating it a serious mental disease and requiring all signatory nations to put administration systems in place to diagnose, treat and otherwise deal with members of the public who have it. However my coaching and counselling clients wished me to continue coaching and counselling them, so I took that the world wide web facility and did it evenings, weekends and holidays instead of in office hours. They added other members of their family to my client list, and then friends and other acquaintances. Before long I was having to work 24/7/52 to keep up with the demand, and the sleep deprivation that caused drove me to attempt suicide in 2000. As I survived that, I backpeddled a bit and confined myself solely to clients who were suicidal or close to it. But others found ways of stalking me to my job at work, and when that route was closed, they found ways of stalking me to my home – so I had to shut down my operation, sell up, and move house, and internet service provider, a few times to escape the stalkers.
I retired from my full time professional career in 2010, but continued my pro bono coaching and counselling suicidal people with autism and Asperger’s Syndrome in particular, as I had an extensive back history of suicide avoidance and prevention during childhood, and by that time, most of my clients were aged about 12-23. But my life and work, even before age 12, was subject to the Official Secrets Acts, so I was barred from divulging such knowledge and experience as I had acquired from my life and work until the period of 25 years grace of the 1989 Act allowed me to publish what I knew. So I did that in 2014 and it went viral, by rocketing to the top of the Amazon UK Best Sellers list and the Amazon Com Best Sellers list in a week. From that success, I was awarded a slot as a feature writer on The Huffington Post, I now also appear on CNNiReport, and I am compiling a course of instructional lectures for Udemy and an instruction manual for Click Bank, to promulgate what I know about suicide avoidance and prevention.
This is, I believe, very important work, as the point of prevention, amelioration or cure of autism and / or Asperger’s Syndrome is pretty damn futile if we can’t keep the living incumbents of the condition from killing themselves by suicide.
My reason for replying to your blog, however, is that I’ve coached and counselled maybe 80,000 auties and aspies in the past 20 years and a very common theme in all these conversations has been about asthma, in particular, that it appears that oxygen starvation triggers the autism genome, by mutating the gene surface so it leaks some of its contents into the surrounding tissue, in the couple of days before birth, during the birth, or in the couple of days after the birth.
I was born a blue baby, and I mentioned this in passing to many of my early clients, in trying to explain the back history that enabled me to teach my brand of suicide avoidance and prevention, and it became a major theme of the talk-talk diagnosis and treatment I meted out to them to help them control their suicidal urges. I say this because you say you need a more precise window of time than birth to 2 years for the blood based test if it is to be useful in the pre-symptomatic / very early symptomatic period; and I think it might be an idea to focus your research on that window, of 2 days before to 2 days after the birth. This is probably the period of most medical / surgical attention being given to the child in its entire lifetime – so it’s not likely to be difficult to organise the taking and testing of the sample as a matter of routine, in every maternity unit you have dealings with. Just a thought.
Not every disease or disorder is going to amenable to cure. Autism in particular has proven exceptionally difficult to understand. Genome sequencing might offer some druggable targets, but is unlikely to provide a wholesale cure. Early, reliable diagnosis is critical – but metabolic anarchy is the key to taking on autism.
Autism Spectrum Disorder (ASD) exists as a human phenomenon with numerous dimensions. For the child with autism, the world is a bewildering place, filled with assaults on the senses. The family sees a beloved child become frustrated in communication, challenged in forming relationships, and confined in an unsympathetic culture.
For public health, autism is a common phenomenon, one distributed throughout all strata of the population, with costly and lifelong impact. For society, it adds to the population’s neurodiversity but at the same time represents a disability characterized by limitations on productivity, vulnerability to discrimination and exploitation, and some measure of dependency requiring supervision, support and protection.
Over 70 years have elapsed since the independent descriptions of autism from the United States by Leo Kanner and from Austria by Hans Asperger. At the midpoint of this interval, autism was narrowly defined and uncommonly diagnosed. Greater awareness, availability of targeted services, changes in diagnostic criteria to include a broader spectrum of neurobehavioral abnormalities and possibly other factors have contributed to the greater than 30-fold increase in the frequency with which ASD is being diagnosed currently.
Autism has been slow to give up her secrets. Nonetheless, the extraordinary number of persons with this aberration in function of the central nervous system (over 3.5 million in the United States; possibly 70 million worldwide) demands inquiry and a pathway to prevention, amelioration or cure.
The Autism Program at the Greenwood Genetic Center (GGC) seeks to fundamentally change the approach to the diagnosis and treatment of autism. This transformation is necessary because of the failure of both traditional and recently emerged genetic and genomic technologies and practices to substantially alter the understanding, impact and prevalence of this complex neurobehavioral disability. To significantly impact this enigmatic disorder, two breakthroughs are essential. First is a reliable blood-based screening test that is not only reliable but can be used at any age, most importantly in the early years. Second is a treatment strategy with the potential to allow the person with autism to develop effective communication and social skills and to function independently. Clinicians and scientists involved in the Autism Program at GGC are confident that both breakthroughs are possible.
As no single genetic, genomic, or environmental influence has been found to account for more than 1-2% of cases of autism, the GGC’s Autism Program has pursued the study of at the collective effect of genetic and environmental factors on metabolism. The first clue that some measure of metabolic anarchy existed in the biology of autism came from the pioneering work of Charles Schwartz and Luigi Boccuto from the Center’s Division of Research. They documented perturbed metabolism of tryptophan in lymphoblasts from children with autism (Boccuto et al. 2013).
Anand Srivastava and Tim Wood pursued this lead further by exploring the differences in the global metabolic profile between children with autism and children who were developing typically. Among over 600 plasma metabolites examined, 25 showed distinct differences between the two populations. Various combinations of these metabolites form the basis for a blood-based test for the early detection or confirmation of autism.
At the same time, the identification of altered metabolites in children with autism provides a pathway to developing treatment strategies. Among other possibilities, various dietary and pharmacological manipulations that could return the altered metabolites toward normal or to mute their adverse biological effects are considerations for treatments.
Relative to the blood-based autism test, two major questions remain. First, how early in life are these distinctive metabolic profiles established in children with autism and children who are typically developing established? Based on our work, the answer lies somewhere between birth and age 2 years but more precise timing is required if the test is to be useful in the pre-symptomatic and very early symptomatic period. Second, and equally important, is whether a similar discriminating profile may be found in other non-developmental disorders.
The longitudinal participation of families with children who have autism and families with children who are typically developing has been essential to the progress in understanding this disability. To them, the GGC faculty and other families with children who have or will develop autism are indebted.
Reference
Boccuto, L., Chen, C., Pittman, A.R., Skinner, C.D., McCartney, H.J., Jones, K., Bochner, B.R., Stevenson, R.E., and Schwartz, C.E. Decreased tryptophan metabolism in patients with autism spectrum disorders. Molecular Autism 2013, 4:16
This article, authored by Dr Roger Stevenson, founder of Greenwood Genetic Centre, first appeared in Issue 5 of FLG magazine.
SOURCE: http://www.frontlinegenomics.com/2815/autism-prevention-or-cure/
FIRST COMMENT:
I was diagnosed with Asperger’s Syndrome in 1994 and after treatment I began coaching and counselling colleagues at work with similar symptoms to me on the office’s intranet system. Three years later they had all taken early retirement / voluntary redundancy due to the UN designating it a serious mental disease and requiring all signatory nations to put administration systems in place to diagnose, treat and otherwise deal with members of the public who have it. However my coaching and counselling clients wished me to continue coaching and counselling them, so I took that the world wide web facility and did it evenings, weekends and holidays instead of in office hours. They added other members of their family to my client list, and then friends and other acquaintances. Before long I was having to work 24/7/52 to keep up with the demand, and the sleep deprivation that caused drove me to attempt suicide in 2000. As I survived that, I backpeddled a bit and confined myself solely to clients who were suicidal or close to it. But others found ways of stalking me to my job at work, and when that route was closed, they found ways of stalking me to my home – so I had to shut down my operation, sell up, and move house, and internet service provider, a few times to escape the stalkers.
I retired from my full time professional career in 2010, but continued my pro bono coaching and counselling suicidal people with autism and Asperger’s Syndrome in particular, as I had an extensive back history of suicide avoidance and prevention during childhood, and by that time, most of my clients were aged about 12-23. But my life and work, even before age 12, was subject to the Official Secrets Acts, so I was barred from divulging such knowledge and experience as I had acquired from my life and work until the period of 25 years grace of the 1989 Act allowed me to publish what I knew. So I did that in 2014 and it went viral, by rocketing to the top of the Amazon UK Best Sellers list and the Amazon Com Best Sellers list in a week. From that success, I was awarded a slot as a feature writer on The Huffington Post, I now also appear on CNNiReport, and I am compiling a course of instructional lectures for Udemy and an instruction manual for Click Bank, to promulgate what I know about suicide avoidance and prevention.
This is, I believe, very important work, as the point of prevention, amelioration or cure of autism and / or Asperger’s Syndrome is pretty damn futile if we can’t keep the living incumbents of the condition from killing themselves by suicide.
My reason for replying to your blog, however, is that I’ve coached and counselled maybe 80,000 auties and aspies in the past 20 years and a very common theme in all these conversations has been about asthma, in particular, that it appears that oxygen starvation triggers the autism genome, by mutating the gene surface so it leaks some of its contents into the surrounding tissue, in the couple of days before birth, during the birth, or in the couple of days after the birth.
I was born a blue baby, and I mentioned this in passing to many of my early clients, in trying to explain the back history that enabled me to teach my brand of suicide avoidance and prevention, and it became a major theme of the talk-talk diagnosis and treatment I meted out to them to help them control their suicidal urges. I say this because you say you need a more precise window of time than birth to 2 years for the blood based test if it is to be useful in the pre-symptomatic / very early symptomatic period; and I think it might be an idea to focus your research on that window, of 2 days before to 2 days after the birth. This is probably the period of most medical / surgical attention being given to the child in its entire lifetime – so it’s not likely to be difficult to organise the taking and testing of the sample as a matter of routine, in every maternity unit you have dealings with. Just a thought.
