Understanding Why Autism Occurs - An Overhaul

An analysis of autism research covering genetics, brain imaging, and cognition led by Laurent Mottron of the University of Montreal has overhauled our understanding of why autism potentially occurs, develops and results in a diversity of symptoms.

The team of senior academics involved in the project calls it the "Trigger-Threshold-Target'' model. Brain plasticity refers to the brain's ability to respond and remodel itself, and this model is based on the idea that autism is a genetically induced plastic reaction.

Diagnostic criteria for Christianson syndrome

Because the severe autism-like condition Christianson syndrome was first reported only in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date. The authors of the study propose the first diagnostic criteria for the condition. “We’re hoping that clinicians will use these criteria and that there will be more awareness among clinicians and the community about Christianson syndrome,” said Dr. Eric Morrow, assistant professor of biology and psychiatry and human behavior at Brown University and senior author of the study in press in Annals of Neurology. “We’re also hoping this study will impart an opportunity for families to predict what to expect for their child and what’s a part of the syndrome.”

Neuroscientists explain how mutated X-linked mental retardation protein impairs neuronal function

Mutations in a gene called oligophrenin-1 (OPHN1) – located on the X chromosome – have previously been linked to X-linked intellectual disability (also known as X-linked mental retardation), a condition that affects boys disproportionately and could account for as much as one-fifth of all intellectual disability among males. Several different mutations in the OPHN1 gene have been identified to date, all of which perturb nerve cells’ manufacture of OPHN1 protein. Previously, Van Aelst and colleagues demonstrated that OPHN1 has a vital role in synaptic plasticity, the process through which adjacent nerve cells adjust the strength of their connections. Cells in the brain are constantly adjusting connection strength as they respond to streams of stimuli. The new discovery shows how OPHN1 is involved in the trafficking of AMPARs, an essential feature of plasticity in neurons. Neurons move receptors away from synapses into their interior and then back to the surface of synapses to control connection strength. At the synaptic surface, receptors provide an opportunity for the docking of neurotransmitters, in this case glutamate molecules. After a cell has fired, surface receptors are typically brought back into the interior, where they are recycled for future use.

U.R. Our Hope

U.R. Our Hope is a nonprofit organization that primarily supports those seeking diagnosis or those diagnosed with a rare condition. U.R. Our Hope is working with "Undiagnosed: Medical Refugees" to highlight the challenges faced by those without an official diagnosis. CNS Foundation spoke with U.R. Our Hope's Medical Liaison Mary Elizabeth Parker to learn more about this organization.

Scripps Florida Scientists Pinpoint How Genetic Mutation Causes Early Brain Damage

In humans, mutations in Syngap1 are known to cause devastating forms of intellectual disability and epilepsy. In the study, Rumbaugh and his colleagues used a mouse model to show that mutations in Syngap1 damage the development of a kind of neuron known as glutamatergic neurons in the young forebrain, leading to intellectual disability. Higher cognitive processes, such as language, reasoning and memory arise in children as the forebrain develops. Repairing damaging Syngap1 mutations in these specific neurons during development prevented cognitive abnormalities, while repairing the gene in other kinds of neurons and in other locations had no effect.

Genetic legacy from the Ottoman Empire: Single mutation causes rare brain disorder

An international team of researchers have identified a previously unknown neurodegenerative disorder and discovered it is caused by a single mutation in one individual born during the height of the Ottoman Empire in Turkey about 16 generations ago.The genetic cause of the rare disorder was discovered during a massive analysis of the individual genomes of thousands of Turkish children suffering from neurological disorders.

Critical role of one gene to our brain development

By looking at patients with severe learning and memory problems, we discovered a gene - called USP9X - that is involved in creating this base network of nerve cells. USP9X controls both the initial generation of the nerve cells from stem cells, and also their ability to connect with one another and form the proper networks.

Study Finds Potential Solution for Feeding, Swallowing Difficulties in Children with DiGeorge Syndrome, Autism

Using an animal model of DiGeorge/22q11 Deletion Syndrome, a genetic disorder that causes autism and intellectual disability, the GW group found clear signs of early feeding and swallowing disruption, and underlying changes in brain development. The research may even lead to a cure for these difficulties — known as pediatric dysphagia.