SFARI News

Tuberous sclerosis linked to brain cell migration

Mon, 08 Feb 2010 05:00:00 -0800

The TSC2 gene, mutations in which cause tuberous sclerosis complex, is needed for budding nerve fibers to find their proper targets in the brain, according to a mouse study published in Nature Neuroscience.

Variants in trust hormone receptor up the risk for autism

Mon, 01 Feb 2010 07:00:00 -0800

Genetic variations that tweak the brain's release of oxytocin — a hormone involved in social bonding and establishing trust — may increase the risk of developing autism or autistic traits, according to three new studies published in the past few months.

First drug for autism enters final stage of testing

Thu, 28 Jan 2010 12:02:00 -0800

A large clinical trial to test the first drug specifically designed to treat autism is under way at 12 sites across the United States.

Workshop Report - Sequencing

Fri, 22 Jan 2010 07:32:00 -0800

As the number of available DNA samples continues to increase and the cost of sequencing continues to drop, one can't help but want to capture all of the genetic variation that might be contributing to autism susceptibility in these families. Toward this end, SFARI organized a one-day workshop on the prospects for sequencing samples from the Simons Simplex Collection.

Early intervention yields big benefits for children with autism

Wed, 20 Jan 2010 06:00:00 -0800

An early intervention method called the Early Start Denver Model can help children with autism improve their language and behavioral skills, and raise their intelligence quotients, according to a study published in Pediatrics.

MEGa marker

Thu, 14 Jan 2010 13:03:00 -0800

The brains of children with autism show a delayed response to sound, which may lead to their language problems.

Food for thought

Tue, 12 Jan 2010 11:07:00 -0800

There is no evidence to support the idea of autism-specific gut problems, according to a review published Monday in Pediatrics.

Director's column - Fever's promising puzzle

Mon, 11 Jan 2010 05:00:00 -0800

Fever has benefits beyond its role in fighting infection. According to a prospective study published in 2007 and to many anecdotal reports, fever can improve cognitive function and behavior in individuals with autism.

Guoping Feng: Unearthing the roots of compulsive behavior

Mon, 04 Jan 2010 06:00:00 -0800

Guoping Feng's perseverance has proven a boon to the hundreds of neuroscientists who rely on his most celebrated scientific achievement: two dozen mouse strains engineered to have brightly colored brain cells. By creating the first robust mouse model of obsessive-compulsive disorder, Feng has also found a way to study repetitive behaviors, one of the three core characteristics of autism.

Virtual games teach real-world skills to kids with autism

Mon, 21 Dec 2009 06:00:00 -0800

Astropolis, a dynamic video game, allows for the unprecedented testing of children with autism on a variety of cognitive skills, all at once, without the artificial, boring and anxiety-ridden setup of a typical psychology lab.

GABA receptor variant found in families with autism

Wed, 16 Dec 2009 06:04:00 -0800

Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.

Pupil response to light could be biomarker for autism

Fri, 11 Dec 2009 11:32:00 -0800

The pupils of children with autism contract more slowly in response to flashes of light than those of their healthy peers, according to findings published in the November issue of the Journal of Autism and Developmental Disorders.

Mounting evidence fingers mitochondria in autism risk

Tue, 08 Dec 2009 11:20:00 -0800

Using new genetic screening technology, a few research groups are finding that a surprisingly large number of children with autism — at least five percent — have an underlying problem with their mitochondria, the energy factories of the cell.

Approving news

Fri, 04 Dec 2009 13:13:00 -0800

In the spirit of Thanks-giving, those dealing with autism received some welcome news last week: the U.S. Food and Drug Administration approved Abilify (aripiprazole) as a treatment for autism-related irritability.

Autism shares features with cerebellar syndromes

Thu, 03 Dec 2009 10:50:00 -0800

There are clinical, anatomical and genetic overlaps between autism and certain rare developmental disorders of the cerebellum, and these disorders may help understand autism, according to several studies published in the past year.

The entire spectrum

Fri, 06 Nov 2009 06:28:00 -0800

A newer version of the psychiatric manual may expand the definition of autism, folding in Asperger's syndrome and pervasive developmental disorder not otherwise specified or P.D.D.-N.O.S.

Lessons from an obscure tumor

Wed, 28 Oct 2009 02:40:00 -0700

There are well- established paternal age effects in diseases less common than autism. A new paper in Nature Genetics explains how the effects might arise, and it involves a kind of tumor you’ve probably never heard of.

SFN blows into Windy City

Fri, 16 Oct 2009 11:02:00 -0700

It's that time of year again — fall foliage, plump pumpkins and, if you're a neuroscientist, the mad, mobbed scenes at the Society for Neuroscience (SFN) annual meeting.

Behind the headlines

Tue, 06 Oct 2009 15:05:00 -0700

The news yesterday was hard to miss: 1 in every 100 children apparently has autism, according to two new studies.

Engineering myths

Thu, 01 Oct 2009 14:19:00 -0700

Wherever there are unexplained phenomena, there are sure to be powerful myths to explain them that take root in the collective imagination.

Michael Wigler: Applying simple logic to complex genetics

Fri, 18 Sep 2009 12:28:00 -0700

Interested more in ideas than in dominating a crowded field, Michael Wigler decided to apply his expertise in cancer genetics to studying poorly understood features of autism.

Detecting genetic "dose"

Fri, 11 Sep 2009 09:49:00 -0700

For complex diseases like autism, there is irrefutable evidence that copy number variation — deletions or duplications of a genomic region — are at least as important as differences in the actual genetic code. Not surprisingly, this is the focus on many genetics labs.

To test or not to test

Fri, 04 Sep 2009 06:42:00 -0700

A new survey reveals how parents feel about genetically testing their children for untreatable diseases.

The 2003 paper linking neuroligins to autism: Commentary by Elaine Budreck and Peter Scheiffele

Mon, 12 Jan 2009 04:15:00 -0800

Unraveling the etiology of autism has been one of the most puzzling challenges in medicine over the past decades. Although in his first description in 1943, Leo Kanner referred to autism as an innate disorder, prevailing views in the years that followed focused on environmental influences ― ranging from cold, unfit mothers to vaccines ― as the primary causative agents of the disorder.

Workshop report - The cognitive phenotype in autism

Wed, 01 Oct 2008 03:36:00 -0700

Autism is a developmental disorder characterized by impaired social interaction and communication, and restricted and repetitive behavior. Because there are no biological markers for the disorder, it is defined and diagnosed purely behaviorally. But the precise cognitive phenotype is not well understood.

Papers that defined diagnostic tools for autism research: by Isabelle Rapin and Sylvie Goldman

Thu, 14 Aug 2008 02:10:00 -0700

It took 50 years for scientists to develop instruments reliable enough to be considered the gold standards for diagnosing autism. Autism has always been around, but it was not until the mid-1940s that Leo Kanner in the United States and Hans Asperger in Austria, both physicians, independently described children with what we now recognize as autism.

1985 paper on the Theory of Mind: Commentary by Rebecca Saxe

Fri, 09 May 2008 02:39:00 -0700

Most people are vastly more interested in the invisible aspects of other peopleʼs actions than in the visible ones. What we generally want to know about others is their “interior workings and invisible aims” ― that is, their beliefs, desires and intentions.

1977 paper on the first autism twin study: Commentary by Angelica Ronald and Robert Plomin

Wed, 19 Mar 2008 04:38:00 -0700

Autism is caused by poor parenting, particularly by ‘frigidʼ mothers who reject their children. Such a statement would seem bizarre today. But 30 years ago parents, especially mothers, were blamed for their childrenʼs autism. Imagine what it must have felt like to be the parent of a child with autism and then to be told it was all your fault. This environment prevailed even after Leo Kanner, who first characterized autism in 1943, assumed it was caused ‘constitutionallyʼ.

Huda Zoghbi's 1999 Rett syndrome paper: Commentary by Stephen Warren

Thu, 03 Jan 2008 08:06:00 -0800

n 1997 I took part in a workshop convened by the US National Institutes of Health to sift through the conflicting literature surrounding a rare and then poorly understood disorder known as Rett syndrome (RTT). Although the disorder was first described in Germany as early as the mid-1960s by Andreas Rett, it was not widely appreciated until 1983, when Bengt Hagberg and colleagues reported on a series of similar patients2.

Leo Kanner's 1943 paper on autism: Commentary by Gerald Fischbach

Fri, 07 Dec 2007 07:04:00 -0800

Donald T. was not like other five-year-old boys. Leo Kanner knew that the moment he read the 33-page letter from Donaldʼs father that described the boy in obsessive detail as “happiest when he was alone... drawing into a shell and living within himself... oblivious to everything around him.”