GABA - involved in Epilepsy and Autism

[RobinN]

Perhaps these researchers should get together and talk once in a while. Perhaps we could sponsor a golf tournament.

3/10/2008

Different types of GABAA receptor have been shown to play various roles in the body's control of behaviour and development. The Cambridge scientists are the first to determine the structure of a type of GABAA receptor containing the so-called delta sub-unit. This receptor type is found in small numbers in the body but is thought to be disproportionately important in controlling our state of consciousness; it is highly sensitive to anaesthetics, and has been linked to epilepsy and pre-menstrual tension, and to the body's response to alcohol.

http://www.medicalnewstoday.com/articles/100037.php

8/3/2005

It has long been suspected that this filtering process is compromised in many autistic children. Impairment of the GABA system could overwhelm the brain with sensory information, leading to many of the behavior traits associated with autism.

GABA is believed to play a key role in the early development of the brain, and the Duke researchers and others have previously shown a connection between GABA and autism.

In their latest study, Pericak-Vance and colleagues examined 14 genes that help make parts of the GABA receptor. The receptors allow the chemical to affect nerve function.

http://www.webmd.com/brain/autism/ne...to-autism-risk

Autism is a neurodevelopmental disorder of complex genetics, characterized by impairment in social interaction and communication, as well as repetitive behavior. Multiple lines of evidence, including alterations in levels of GABA and GABA receptors in autistic patients, indicate that the GABAergic system, which is responsible for synaptic inhibition in the adult brain, may be involved in autism. Previous studies in our lab indicated association of noncoding single nucleotide polymorphisms (SNPs) within a GABA receptor subunit gene on chromosome 4, GABRA4, and interaction between SNPs in GABRA4 and GABRB1 (also on chromosome 4), within Caucasian autism patients. Studies of genetic variation in African-American autism families are rare. Analysis of 557 Caucasian and an independent population of 54 African-American families with 35 SNPs within GABRB1 and GABRA4 strengthened the evidence for involvement of GABRA4 in autism risk in Caucasians (rs17599165, p=0.0015; rs1912960, p=0.0073; and rs17599416, p=0.0040) and gave evidence of significant association in African-Americans (rs2280073, p=0.0287 and rs16859788, p=0.0253). The GABRA4 and GABRB1 interaction was also confirmed in the Caucasian dataset (most significant pair, rs1912960 and rs2351299; p=0.004). Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.

http://www.pubmedcentral.nih.gov/art...?artid=1513515

[RobinN]

I was also taken with this article recently. It speaks deeply to me, about how we label a "disorder". I think it can be said for certain forms of Epilepsy as well.
Read and replace the word Epilepsy where you read Autism, and see if it doesn't make some sense.

The definition of autism and related disorders, referred to collectively as autism spectrum disorder, is one of deep and continuing importance. It affects the public's perception, our own perceptions, insurance, funding levels, research efforts, diagnosis, and the care and treatment of our children. Definitions have always been the means by which we construct and analyze reality. As J. L. Austin points out, "Language is equivalent to action."
There are any number of definitions dealing with autism and autism spectrum disorder. Some like the DSM-IV run to several pages, with a menu list of options. Others are more concise. All share a common element. They all define autism as a disorder.

The accepted definition of autism as a disorder can be traced to its origins, now discredited, as a psychiatric condition. A number of nearly invisible, domino-like side effects further compound the problem once disorder is accepted.

A common practice in the field of psychiatry is a pair-wise noun/adjective labeling of condition and patient, such as schizophrenia/schizophrenic, psychosis/psychotic, and autism/autistic. Of course implicit in this noun/adjective pairing is a life-long condition. Explicit is the understanding that the child is the disorder.

Autism defined as a disorder coupled with the implicit life-long adjective autistic speaks to its fictive roots revealing more about the meaning-makers than the illness. Acceptance frames our expectations. It is self-limiting. Autism has been forced into this Procrustean position as a consequence of antiquated, inherited language rather than of sound science.

Life-long disorders are recognized, accepted, coped with, and managed. Diseases are detected, prevented, treated, and cured. Diseases are fought, disorders are tolerated.

A disorder means out of order. A noise word – gobbledygook, jargon, coloring our thinking and downplaying the problem. One of our goals as parents is to educate as well as enlist the aid of the public. Communication is understood by what we encounter based on shared contexts and experiences. Who has ever experienced a disorder? The public's perception of autism is framed for failure. The public is mystified by autism because disorder perpetuates the mystery.

Autism is a disease, where a disease is "a pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and characterized by an identifiable group of signs or symptoms."

http://autismone.org/topside.cfm?page=1

[Bernard]

GABA <- earlier thread on GABA