Latest News - 11/19

 

Pope Francis to Meet with Autistic Kids to End Stigma

Pope Francis waves during his Sunday Angelus prayer in Saint Peter's Square at the Vatican November 16, 2014. (Reuters)

VATICAN CITY:  Pope Francis will meet with autistic children and their families in a bid to help raise awareness and end the stigma and isolation of people living with autism spectrum disorders.

The Saturday audience will cap an international conference on autism being hosted this week by the Vatican's health care office. Organizers said Tuesday it was the biggest medical conference of its kind on autism, gathering more than 650 experts from 57 countries.

The Rev. P. Augusto Chendi of the Pontifical Council for Health Care Workers told reporters the aim of the conference and the papal audience is to "help break the isolation, and in many cases the stigma, that surrounds people affected by autistic spectrum disorders."

While autism is increasingly diagnosed in places like the United States, where about 1 in 68 children are said to be on the spectrum, it is still largely unknown and undiagnosed elsewhere, including in the Vatican's own backyard of Italy, said Dr. Stefano Vicari, head of pediatric neuropsychiatry at the Vatican-owned Bambin Gesu hospital in Rome.

Francis, who has shown great ease around children with special needs, will deliver a speech to the hundreds gathered in the Vatican audience hall. The session will be punctuated by music and movement for the children.

Autism experts said parents of autistic children require particular pastoral care since they are at high risk of getting divorced due to the emotional and financial stress of dealing with their child's disorder.

The Vatican's top health official, Monsignor Zygmunt Zimowski, said his office chose to focus on autism for its conference this year to give families affected by autism hope and attention.

World | Associated Press | Updated: November 18, 2014 23:38 IST

November 8, 2014 - Autism linked to dozens of mutations

SAN JOSE, CALIF. – Dozens of different gene defects are linked to autism, according to two major new studies that involved more than 50 laboratories worldwide.

The mutations — which may work alone or in combination — are all connected by their roles in a few basic molecular pathways, which could be targets for future treatments, according to the studies of the developmental disorder led by University of California, San Francisco and published in the journal Nature.

“The genes that we identify are critically important clues about the underlying biology of autism, which we really need to understand to know what is going wrong,” said Dr. Matthew W. State, UCSF professor of psychiatry, a co-leader of one study and a key participant in the second.

Not all cases of autism have a gene-based beginning. Growing brains can also be influenced by environmental events. In many cases, a combination of factors may be involved, he said.

While a rare few of the newly detected mutations are inherited from the parents’ genomes, most families do not have a family history of the disorder. Rather, these mutations arose during the creation of a father’s sperm cell or mother’s egg cell, they found.

The scientists tied mutations in more than 100 genes to autism. Sixty of these genes met a “high-confidence” threshold, indicating that there is a greater than 90 percent chance that mutations in those genes contribute to autism risk.

The finding that autism can result from mutations in so many genes suggests that it is not a single condition, but rather an umbrella term for patients with similar sets of conditions. But this doesn’t mean that many different treatments will be necessary, State said. Rather, the mutations “coalesce about a much smaller set of biological processes,” he said.

The genes implicated play three major roles:

• The formation and function of synapses, the sites of nerve-cell communication in the brain

• Regulation of instructions relayed to hundreds, if not thousands, of other genes

• Packaging of DNA into a cellular structure known as chromatin

The researchers studied DNA data collected by the Simons Foundation Autism Research Initiative, a database of families that have one child with autism and unaffected parents and siblings.

“They did great work,” said Samuel S.H. Wang, associate professor of molecular biology at Princeton University. “What they are doing is finding clues as to which brain pathways go off track to cause autism. This is really about the general biology of what causes autism, not the diagnosis of individuals.

“If enough of these genes are found, it should be possible to start figuring out which molecular pathways — and even which brain systems — go off track in early life to cause autism,” Wang said.

AUTISM SIGNS

• No big smiles or other warm, joyful expressions by six months or older

• No back-and-forth sharing of sounds, smiles or other facial expressions by nine months or older

• No babbling or back-and-forth gestures, such as pointing, showing, reaching or waving, by 1 year

• No words by 16 months

• No two-word meaningful phrases by 2 years

• Loss of speech or babbling or social skills at any age

• For more information, www.autismspeaks.org.

Source: First Signs, a national nonprofit that educates parents on autism

By LISA M. KRIEGER , San Jose Mercury News

 

Dozens of genes fingered in New Autism Trawl

One of the widest investigations into autism has implicated several dozen genes, boosting the search for a diagnostic tool and new treatments, scientists said on Wednesday.

Mutations in these genes emerged in two studies which compared thousands of people with autism spectrum disorder against family members with or without ASD.

Many of the newly-found genetic variants are so-called spontaneous mutations, meaning they were not passed down from the parents.

The analysis was carried out by two teams, reporting separately in the science journal Nature.

ASD is a developmental disorder that has no cure. It leads to difficulties, sometimes cripplingly so, in social, emotional and communication skills.

The causes of the condition, though, are unclear.

Whether the risk comes from genes or the environment, or both -- and if so, to what degree -- are all fiercely debated.

Many of the newly-found genes are thought to be involved in the function of brain cells, including connections between neurons.

Spontaneous mutations, also called de novo mutations, are believed to occur early in foetal development, when errors in DNA code are transmitted when cells divide. 

They have also been implicated among children born with cardiac defects, when their parents or brothers and sisters do not have congenital heart disease.

By eventually building a picture of DNA clues, doctors could help diagnose a child at risk of autism and boost chances of developing drugs to tackle the condition, the investigators said.

"We have a set of genes for which now, if people see a likely gene-disruptive mutation when sequencing a young child, there's a high risk of the child developing autism," said Evan Eichler of the Simons Foundation Autism Research Initiative, a US group.

"That, to my mind, is pretty powerful stuff," said Eichler. "Recognising this early on may allow for earlier interventions, such as behavioural therapies, improving outcomes in children."

The study in which Eichler's team was involved found evidence that spontaneous mutations contribute to ASD in at least a quarter of families where a child has autism but their parents or siblings are unaffected. 

It also found that "higher-IQ" ASD, which mainly affects boys, has a different genetic architecture compared to "lower-IQ" autism, which affects both genders equally.

David Skuse, at the Great Ormond Street Hospital in London, who co-authored the other study, said gene diagnosis could help parents prepare for an autistic child, and inform them of the likelihood of having more children with ASD.

"Building a resource of genes that are implicated in the disorder also makes research by pharma companies more commercially valuable, meaning that treatments for the condition may improve in future," said Skuse.

10/29/14, Paris (AFP)

A 19-Year-Old's Face Tracking Software will Change the Way People with Autism Recognize Emotions

Catalin Voss is CEO and cofounder of Sension.

By the time he was 15, Catalin Voss produced the No. 1 podcast on the Germany iTunes stores and commuted back and forth between his native Heidelberg and Silicon Valley to work for Steve Capps, one of the designers of the original Macintosh Apple computer.

During freshman year  at Stanford University, the coding prodigy added "CEO" to his résumé.

His company, Sension, is a visual interface company seeking to revolutionize the way we learn. Voss, 19, and a small team of Sension employees and Stanford affiliates developed a facial recognition software that works with a simple webcam, allowing anyone to make videos that respond to the viewer.

asuonline.asu.edu/Autism

MELIA ROBINSON, Business Insider, October 16, 2014