Faulty immune cells in the developing brain may contribute to autism : Medical News Today

A new study in mice concludes that immune cells called microglia may play a role in the development of autism spectrum disorder in males.

Source: Faulty immune cells in the developing brain may contribute to autism : Medical News Today

Largest autism sequencing study to date yields 102 genes associated with ASD — ScienceDaily

In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with ASD, and report significant progress toward teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay, conditions between which there is often overlap. The findings were presented at the American Society of Human Genetics 2018 Annual Meeting in San Diego, Calif.

Jack Kosmicki, PhD candidate at Harvard University; Mark J. Daly, PhD, chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital; and collaborators studied 37,269 genetic samples collected from large research cohorts worldwide.

“With about twice as many samples as any previous studies, we were able to substantially increase the number of genes studied, as well as incorporate recent improvements to the analytical methodology,” said Dr. Daly. “By bringing together data from several existing sources, we hope to create a resource for definitive future analysis of genes associated with ASD.”

Indeed, the larger sample size enabled Mr. Kosmicki and colleagues to increase the number of genes associated with ASD from 65 in 2015 to 102 today. Of these 102 genes, 47 were found to be more strongly associated with intellectual disability and developmental delay than ASD, while 52 were more strongly related to ASD, and three were related to both. Statistically, the genes were identified at a 10 percent false discovery rate.


Source: Largest autism sequencing study to date yields 102 genes associated with ASD — ScienceDaily

Autism prognosis: Parental genes ‘incredibly useful’ : Medical News Today

While one main risk gene may make an individual susceptible to autism or another neurodevelopmental disorder, it is the whole collection of associated changes in their DNA that decides whether they develop it and how severe it becomes.

This was the conclusion that researchers arrived at after analyzing developmental, cognitive, and genome sequencing data of hundreds of people with known risk genes together with that of their parents and siblings.

They suggest that their findings explain why two people carrying the same risk gene, also known as the “primary mutation,” can have very different symptoms of the associated neurodevelopmental disorder.

“For example,” says senior study author Santhosh Girirajan, an associate professor of biochemistry and molecular biology at Pennsylvania State University in University Park, “when a parent and child have the same primary mutation but only the child develops the disorder.”

He explains that when diagnosing a disorder such as autism, the focus on finding the cause tends to be on identifying the “one primary mutation.”

However, this approach does not explain why many people with the same primary mutation can have widely different symptoms.


Source: Autism prognosis: Parental genes ‘incredibly useful’ : Medical News Today

Reversing autism with a cancer drug : Medical News Today

Researchers may have found a promising new treatment for a genetic form of autism. Using experimental cancer drugs, scientists reversed the condition in mice.

According to the most recent estimates, 1 in 59children in the United States have an autism spectrum disorder (ASD).

Over 7 percent of these cases have been tied to chromosomal defects, suggesting that many of the impairments in social communication, movement, sensory perception, and behavior that characterize the syndrome are down to genes.

Specifically, some people with ASD are missing a piece of their chromosome 16.

Known as 16p11.2 deletion syndrome, this chromosomal defect often leads to neurodevelopmental disability and language skills impairment.

Now, researchers may have found a way to reverse this genetic form of ASD. Scientists led by Prof. Riccardo Brambilla — of Cardiff University in the United Kingdom — used experimental drugs that were initially developed to treat cancer to restore normal brain function in mice with ASD-like symptoms.

The findings are now published in The Journal of Neuroscience.

Cancer drug prevents, reverses ASD in mice


Source: Reversing autism with a cancer drug : Medical News today

Autism blood test: One step closer : Medical News Today

Following research published last year, a new paper outlines the further success of a diagnostic blood test for autism. The results could help to diagnose the condition at a younger age.

Autism spectrum disorder (ASD) is a range of conditions that impact the way in which an individual interacts with the world.

Though every case is different, symptoms can include repetitive behaviors, tics, anxiety, and learning difficulties.

There are many questions about ASD that are still unanswered.

For instance, we still don’t understand exactly why it occurs, and there is no cure.

However, the earlier ASD is picked up, the better the outcome tends to be. But, because clinical observation is the only way to diagnose ASD, it is only possible once the child is around 4 years old.

The hunt for diagnostics


Source: Autism blood test: One step closer : Medical News Today

Latest CDC autism figures show 15 percent rise : Medical News Today

The latest analysis published by the Centers for Disease Control and Prevention concludes that autism might be more prevalent than previously estimated. They are now calling for more effort to be made toward early detection.

Autism spectrum disorders (ASD) are conditions that affect development. They impact the ways a person interacts with other people and alter how they perceive the world.

And, though every case is different, the most common symptoms include delayed speech development, trouble interacting with peers, and repetitive behaviors.

As for prevalence, in 2016, the Centers for Disease Control and Prevention (CDC) estimated that it affected 1 in 68 children — about 1.5 percent of all children. However, this week, they updated this estimate.


Source: Latest CDC autism figures show 15 percent rise : Medical News Today

Autism: Anti-cancer drug may improve social behavior : Medical News Today

New research led by the State University of New York at Buffalo suggests that an anti-cancer drug may be able to reverse social impairments associated with autism.

In a paper now published in the journal Nature Neuroscience, the investigators report how low doses of romidepsin — a drug approved in the United States for the treatment of lymphoma — “restored gene expression and reversed social deficits” in a mouse model of autism.

Autism spectrum disorder (ASD), which is a developmental condition, affects behavior, social interaction, and communication.

Statistics that were compiled in the U.S. suggest that 1 in 68 children have ASD and that it is around four to five times more common in boys than in girls.

Source: Autism: Anti-cancer drug may improve social behavior : Medical News Today

New blood test predicts autism with 92 percent accuracy : Medical News Today

Researchers led by those from Warwick University in the United Kingdom have developed a diagnosis test for autism that may predict it with an unprecedented level of accuracy.

Autism spectrum disorder (ASD) is a condition that impacts cognition, behavior, and social interaction.

The Centers for Disease Control and Prevention (CDC) estimate that 1 in 68 children have ASD.

Given its developmental nature, ASD may have an early onset, but it typically takes a while for the first symptoms to appear. As such, early diagnosis is not usually possible.

Therefore, a chemistry-based diagnosis test for the early detection of ASD may be crucial, enabling children to receive the care that they need much earlier on. Until now, no such test was available.

But an international team of researchers — led by Dr. Naila Rabbani, a reader of experimental systems biology at the University of Warwick — believes that it has designed tests that can accurately detect ASD-related protein changes in the blood and urine.

The findings were published in the journal Molecular Autism.


Source: New blood test predicts autism with 92 percent accuracy : Medical News Today