Autism Teachers

The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases

until now, no other genetic study of humans has made this demonstration.

The different forms of autism are often genetic in origin and nearly a third of people with autism also suffer from epilepsy.

Developmental abnormalities in the mirror neuron system may contribute to social deficits in autism.

Now, a new study published in Biological Psychiatry reports that the mirror system in individuals with autism is not actually broken, but simply delayed.

While most of us have their strongest mirror activity while they are young, autistic individuals seem to have a weak mirror system in their youth, but their mirror activity increases with age, is normal by about age 30 and unusually high thereafter.

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.

"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.

Orangutans are very intelligent, but lack voice boxes and vocal cords, which can make communication difficult. Up until now, zoo keepers have been using sign language to communicate with them. Using the iPad gives the orangutans another form of communication with humans, provides them with mental stimulation, and also gives those who don’t know sign language a chance to interact with humans.

When the production of neuroligin-3 in the mice was reactivated, the nerve cells reduced the production of the glutamate receptors to a normal level and the structural defects in the brain typical for autism were gone. Consequently, these glutamate receptors could be targeted in the development of drugs that could stop autism from developing or even reverse it.

It turns out that in all three of the primary cortices -- visual, auditory and somatosensory -- we did not see the typical response trial after trial in the individuals with autism. Instead, we saw considerable variability -- sometimes a strong response, sometimes a weak response. The fact that we did not see precise responses in autism was a really important result. It suggests that there is something fundamental that is altered in the cortical responses in autism. This variability in the brain response might also possibly explain why individuals with autism find visual stimulation, touch and sound to be so strong and overwhelming.

We know from genetic research that many of the neurobiological changes that occur in autism have to do with changes at the level of the synapse, the way that information is transmitted from one neuron to another.

genetic mutations in the SHANK2 gene, partially responsible for linking nerve cells,  and variants in the number of gene copies that were common to patients with autism and patients with mental retardation.

the same mutation can be present in an autistic patient with normal intelligence and in a mentally impaired patient

Our findings further link common genes between ASD and intellectual disability.