6/10/2009

Autism/Autisms: Betraying an appalling ignorance at AoA

http://www.ageofautism.com/2009/06/beware-of-autisms.html

Mark Blaxill betrays his complete lack of knowledge regarding autism research and his desire for framing questions concerning autism and autism research in absolutist measures. His article is one more nail in the coffin on AoA's credibility as an organization that wishes to expand knowledge about autism.

They have a vaccine damage/heavy metal toxicity agenda and the apparent desire to see how many sponsors of products to recover kids from autism they can get. I wonder, since they love the cry of pharma shill, how they would feel about being perceived of as woo-shills?

There may be reasonable people who post over there, but I would submit they are in the minority. And short of Kirby's last two posts at Huff, which were downright reasonable and actual reporting on the latest one, every single article writer the last several weeks at least, are either incredibly offensive (Baron-Cohen), deluded, downright ignorant, or in the case of Dr. Bob, an appeaser trying to sell stuff.


Blaxill takes it to a new level of ignorant. Dachel's latest on Baron-Cohen warrants a thrashing, which it will get when I have a spare moment to give it the attention it richly deserves. But first, Blaxill and his autism/autisms and the accusation that scientists are moving their goalposts because Blaxill heard for the first time that it would appear that autism, which has been conceived of as a syndrome/spectrum for at least the last 29 years, may have more than one underlying cause, and as such, is more than one disease process. If you'd pick up a text in the field, or read a study in the field instead of focusing your attention on the frikking woo and the assumption that it is all vaccine damage, you might get a clue, Blaxill. At this point, it's highly doubtful, but still, it's within the frame of potentiality.

And the dumbasses, and I'm sorry, Teresa C, but that would be YOU (and that's not snide, OAD, that's "truth is thruth" as Moffie would put it) are worse than Blaxill. It's early yet, but at least so far in the posting the idiots are outnumbered by people who have a clue and an actual interest in figuring out what the underlying causes of the syndrome are.


Now, lest the anti-science, I know it's all vaccine damage folks think I don't have the facts to back up my argument that autism as it is known today appears to be a similar cluster of behaviors with multiple disease pathways, here you go:

All from Coleman, M. (2005). The Neurology of Autism:

“A spectrum is the term used to describe continuous clinical variations spread out within the same disease entity. The utility of a spectrum is the ability to assemble a coherent group that is composed of individuals who all share a set of basic underlying pathological traits, such as a genotype, and that thus provides a consistent set of individuals for further research and the development of rational therapies. The implication of the term “autistic spectrum disorders” is that they are, in the end, one underlying disease. Thus, is autism one huge, sprawling, multifaceted spectrum of a disease? Or, perhaps, is autism a syndrome, a final, common phenotype expressed by many different underlying diseases? Is autism a spectrum or a syndrome? Study of the human genome has led to many changes in medical thinking; one of these changes is that the concepts of “spectrum” and “syndrome” as used in the past have developed extended meanings. For example, mutations of the ARX (Aristaless-related homeobox) gene, important in neurodevelopment, have clinical manifestations referred to as the “spectrum of the ARX gene” (Kato et al. 2004). Mutations of this gene are associated with the following human phenotypes: (1) hydranencephaly with abnormal genitalia, (2) X-linked lissencephaly with abnormal genitalia, (3) Proud syndrome (X-linked mental retardation, agenesis of the corpus callosum and abnormal genitalia), (4) isolated agenesis of the corpus callosum (in females) (5) X-linked infantile spasms, and (6) nonsyndromic X-linked mental retardation. Other phenotypes include West syndrome, myoclonus, dystonia, spinocerebellar ataxia, and autism. So disease entities that result in very major brain malformations and those that do not cause any detectable malformation of the brain can arise from mutations in this single gene. This is a case of extreme pleiotropy of clinical expression indicating a great allelic heterogeneity; it ranges from the missing cortex of hydranencephaly all the way to the brain apparently without malformations of nonsyndromic mental retardation. The ARX gene holds other fascinations as well. The location and types of the mutations inside the ARX gene tend to be predictive of the phenotype (Kato et al. 2004). To date, the known ARX mutations in humans that do not result in brain malformations are the deletion of exon 5, polyalanine expansions or duplications, and missense mutations. In contrast, truncating mutations, which induce a premature termination of the protein, cause lissencephaly or hydranencephaly. ARX was one of the very ?rst genes for which it was noted that there tends to be a consistency of the genotype-phenotype correlation which can be determined by looking inside the gene itself. Certainly on the face of it, the clinical expression of ARX mutations underlies what appears to mimic a syndrome (many separate disease entities) rather than a spectrum (variations of a single disease). However, by some present definitions, all clinically relevant mutations on one gene one spectrum. So this kind of caveat will be kept in mind during the nosology discussion of autism/Asperger syndrome. At least there is no argument that from the point of view of educational intervention programs, it is often quite useful to consider autism, Asperger syndrome, PDD-NOS, and the other phenotypic variants as part of a rather extensive clinical psychiatric spectrum, using similar individualized approaches to tackle the symptoms. Based on twin and family studies (Bailey et al. 1995; Pickles et al. 1995) and subsequent genome scans, evidence that more than one gene might be involved in autism began to develop. This led to the conclusion that autism was a complex rather than a monogenic disorder, with the term “oligogenic disorder” used to describe the involvement of multiple loci (Risch et al. 1999; Cook 2001). The assumption was made that, like in other common diseases such as Parkinson disease, multiple genetic and environmental factors would in?uence the risk of an individual being affected. Susceptibility or protective genes might confer or reduce the risks of developing disease. One strategy, using linkage and association studies, examined the possibility that the responsible genes are not mutated sequences encoding aberrant gene products but apparently normal polymorphisms acting synergistically or even “independently.” Investigating the genetics of separate subclinical traits or endophenotypes in relatives of children with autism seemed another constructive way to find susceptibility genes (Leboyer 2003). After more than 10 years of very hard work on these linkage and association studies by many dedicated investigators, no susceptibility gene for all of autism has yet been identified. In contrast, there is now good and growing information about Parkinson’s disease in hand. In Parkinson’s disease, genetic studies have found mutations in genes from different families and several susceptibility genes; they affect the misfolding, overexpression, or insuf?cient disposal or aggregation of brain alpha-synuclein, which has a central role in this disease process (Olanow 2003; Golbe & Mouradian 2004). Researchers are even beginning to understand how damage by toxins such as MPTP to alpha-synuclein might cause clinical Parkinson-like effects similar to those that result from the gene mutations. Although the Parkinson story is not yet over and other genes and alternate mechanisms await discovery, it is currently believed that most gene mutations directly or indirectly lead to a pathogenetic cascade that eventually affects the brain’s handling of a central protein, alpha-synuclein.”

Coleman, Mary. Neurology of Autism.
Cary, NC, USA: Oxford University Press, Incorporated, 2005. p 13-14.
http://site.ebrary.com/lib/waldenu/Doc?id=10091843&ppg=31


“This study suggests that the autistic syndromes, like the mental retardation syndromes, begin prior to birth in the overwhelming number of cases. It adds one more piece of evidence that autism is a member of the family of neurodevelopmental syndromes with maturational disturbances and may be the behavioral stepsister of the mental retardation syndromes.”

study referring to Nelson et al. (2001)

Nelson KB, Grether JK, Croen LA, Dambrosia JM, Dickens BF, Jelliffe LL, Hansen RL, Phillips TM (2001) Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Annals of Neurology 49:597– 606.


Coleman, Mary. Neurology of Autism.
Cary, NC, USA: Oxford University Press, Incorporated, 2005. p 4.
http://site.ebrary.com/lib/waldenu/Doc?id=10091843&ppg=21

In the case of autism, data obtained from several groups of children with autistic characteristics show evidence that the disease process can be initiated in all three trimesters (Rodier et al. 1996; Coleman 1994; Yamashita et al. 2003). (There is some postnatal evidence, too [Minshew 1996].) As evidence from these trimesters is reviewed, one useful way to look at this neurodevelopmental problem might be to classify the autistic syndromes with the same general terms that are used to classify mental retardation syndromes, that is, syndromic or nonsyndromic.”

Coleman, Mary. Neurology of Autism.
Cary, NC, USA: Oxford University Press, Incorporated, 2005. p 5.
http://site.ebrary.com/lib/waldenu/Doc?id=10091843&ppg=22



“While on the topic of MCA/MR syndromes, it should be noted that a child with autism does not have to possess major anomalies or major stigmata to have a disease entity that began in the first trimester. Some minor stigmata can be traced to the first trimester (Rodier et al. 1997b). Sometimes the syndrome is missed because the stigmata and skin lesions that characterize the children’s faces are not always apparent in infancy and early childhood. Examples of this delayed diagnostic phenomenon are reported in tuberous sclerosis, Cohen syndrome, and chromosome 22q11.2 deletion syndrome. Yet another possibility is the recent revelation that a child may be clinically classified as having nonsyndromic autism and also have a mutation on the same gene affected in a MCA/MR syndrome (Turner et al. 2002); this is the same phenomenon that is seen in syndromic and nonsyndromic forms of mental retardation (Nokelainen & Flint 2002). The second trimester is believed to be a time when many of the neurodevelopmental errors that lead to nonsyndromic autism occur. The period from 8 to 20– 24 weeks of gestational age including the end of the ?rst as well as the second trimester is the fetal period of brain development. When autism was ?rst being studied, it was noted how beautiful and unstigmatized many of these children were. This may even have been a factor in the initial blaming of the parents who were raising such normal-looking children. But as soon as any systematic research was conducted on this question, it became clear that children with autism who looked unstigmatized were more likely to have minor physical anomalies than control children matched for age, sex, and socioeconomic status (Steg & Rapoport 1975; Walker 1976; Campbell et al. 1978; Links et al. 1980; Rodier et al. 1997a). The timing of formation of these minor anomalies spans from the first trimester to the beginning of the second trimester. In these studies, the single most common minor anomaly in these studies found in autism was an ear anomaly characterized by particularly low seating and posterior rotation of the ears. This anomaly was even more common in children with autism than in children with mental retardation. Other minor anomalies found in children with autism by more than one of these studies were partial or full syndactyly of the second and third toes and a slight hypertelorism. It is far from clear in which trimester to place the infantile forms of neurological (table 1-1B) and psychiatric disorders (table 1-1C) already defined in older populations. Because these beautiful children have so few stigmata, these categories temporarily go into the second trimester lists. The issue will become clearer disease by disease as the neuroanatomical and genetic basis of the primary disorders are better understood. In a prospective study of prenatal factors comparing children who developed”

Coleman, Mary. Neurology of Autism.
Cary, NC, USA: Oxford University Press, Incorporated, 2005. p 9.
http://site.ebrary.com/lib/waldenu/Doc?id=10091843&ppg=26



“Sometimes ASDs are viewed as many ‘autisms’ caused by different problems but leading to the same behaviours ‘on the surface’ and there may be different types of autism in different individuals, and sometimes more than one type of autism present in the same person (Williams 1996).”

Bogdashina, Olga. Theory of Mind and the Triad of Perspectives on Autism and Asperger Syndrome : A View from the Bridge.
London, , GBR: Jessica Kingsley Publishers, 2005. p 77.
http://site.ebrary.com/lib/waldenu/Doc?id=10130570&ppg=79

2 comments:

angela said...

Can I link this one too? well done!

KWombles said...

Sure! Thanks. :-)