Autism Teachers

“Having at our fingertips detailed information about when and where specific gene products are expressed in the brain brings new hope for understanding how this process can go awry in schizophrenia, autism and other brain disorders,” said NIMH Director Thomas R. Insel, M.D.

Among key findings in the prefrontal cortex:Individual genetic variations are profoundly linked to expression patterns. The most similarity across individuals is detected early in development and again as we approach the end of life.Different types of related genes are expressed during prenatal development, infancy, and childhood, so that each of these stages shows a relatively distinct transcriptional identity. Three-fourths of genes reverse their direction of expression after birth, with most switching from on to off.Expression of genes involved in cell division declines prenatally and in infancy, while expression of genes important for making synapses, or connections between brain cells, increases. In contrast, genes required for neuronal projections decline after birth – likely as unused connections are pruned.By the time we reach our 50s, overall gene expression begins to increase, mirroring the sharp reversal of fetal expression changes that occur in infancy.Genetic variation in the genome as a whole showed no effect on variation in the transcriptome as a whole, despite how genetically distant individuals might be. Hence, human cortexes have a consistent molecular architecture, despite our diversity.

Among key findings:Over 90 percent of the genes expressed in the brain are differentially regulated across brain regions and/or over developmental time periods. There are also widespread differences across region and time periods in the combination of a gene’s exons that are expressed.Timing and location are far more influential in regulating gene expression than gender, ethnicity or individual variation.Among 29 modules of co-expressed genes identified, each had distinct expression patterns and represented different biological processes. Genetic variation in some of the most well-connected genes in these modules, called hub genes, has previously been linked to mental disorders, including schizophrenia and depression.Telltale similarities in expression profiles with genes previously implicated in schizophrenia and autism are providing leads to discovery of other genes potentially involved in those disorders.Sex differences in the risk for certain mental disorders may be traceable to transcriptional mechanisms. More than three-fourths of 159 genes expressed differentially between the sexes were male-biased, most prenatally. Some genes found to have such sex-biased expression had previously been associated with disorders that affect males more than females, such as schizophrenia, Williams syndrome, and autism.

"With a facilitator guiding her arm, the child who had never been taught to read was suddenly writing poetry and English essays, taking history exams and doing algebra. The middle-schooler who couldn't put on her coat without help was typing about her plans to become a college professor,"

But the technique, in which the aide's hand is supposedly guided by the child to type what she wants to say, has been proved ineffective. It has been shown to rely on the aide's projections rather than to reflect the child's thoughts. Although some autistic children can learn to communicate genuinely via a keyboard with only initial guidance, facilitated communication, in which an aide always does the typing has repeatedly failed to demonstrate that the words are written or thought by the child. For example, when the facilitator is not allowed to hear the questions being asked of the child, the resulting answers are wrong or nonsensical.

When the Wendrow's daughter's aide typed allegations of sexual abuse against the girl's father and brother — and claimed that the child's mother had been ignoring her complaints — a prosecution of the family was set into motion that became nearly unstoppable. The aide refused to believe she was not typing her own ideas, even though the child was clearly not capable of the complex language being attributed to her. Once prosecutors and the aide became convinced of the truth of the allegations, even overwhelming evidence of their falsehood was ignored.

The American Psychiatric Association (APA) is now in the process of developing and finalizing the new Diagnostic and Statistical Manual of Mental Disorders (DSM) Version 5.

autism spectrum disorders as we know them will change radically, and many people who are now considered to be "autistic" may find themselves with a brand new diagnosis.

Unless something changes between now and then, as of 2013, Asperger syndrome will no longer exist as a diagnosis.

The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism.

The team identified 21 spontaneous mutations -- meaning they weren't inherited from either parent -- in the children's DNA. Eleven of these were mutations that would alter the protein encoded by the affected gene. In four of the 20 children, the researchers found mutations that were severe, some of which have been previously linked to autism, intellectual disability, and epilepsy.

one child had a mutation in the GRIN2B gene, which is crucial for neuronal signaling.