SFARI News

All included

Wed, 01 Sep 2010 13:00:00 -0700

A decade ago, children with disabilities were almost always separated into their own rooms — or even buildings — with specialized teachers and lessons. But some research since then has shown that many of these children can learn well alongside healthy children, and vice versa.

Studies explore amygdala problems in fragile X syndrome

Tue, 31 Aug 2010 13:00:00 -0700

The amygdala, a brain region that regulates fear and anxiety, shows abnormal neuronal signaling in a mouse model of fragile X syndrome, according to two studies published this summer. These are the first to explore cellular defects in the region in fragile X.

Risky secrets

Mon, 30 Aug 2010 10:00:00 -0700

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you're more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?

Social factors may drive the spike in autism cases

Fri, 27 Aug 2010 09:00:00 -0700

Changes in diagnostic practices, more active neighborhood networks, and an increase in the number of older parents may all contribute to the massive rates of autism in California, says a group of social scientists. But the numbers still don’t add up.

Disability vs. difference

Thu, 26 Aug 2010 13:00:00 -0700

People with autism are asserting their right to be different. They say so-called 'neurotypicals' are the ones with communication problems, relying on the "animalistic means" of body language, and they don’t understand why their focused, repetitive behaviors are thought to be problematic when neurotypicals indulge in obsessions such as sports and soap operas.

Venn diagnoses

Wed, 25 Aug 2010 10:30:00 -0700

Three articles published in the past few weeks show that diagnostic categories marked off neatly on the page often bleed together messily in the clinic.

Fragile X protein linked to potassium channels

Tue, 24 Aug 2010 11:00:00 -0700

Mouse models of fragile X syndrome show defects in two kinds of potassium channels — ubiquitous pores that control the flow of electrical current across neurons — in a brain area that processes sound, according to two papers published this summer.

Norway baby study expected to yield insights into autism

Fri, 20 Aug 2010 03:00:00 -0700

The Autism Birth Cohort, based on data from 100,000 Norwegian children and their families, aims to uncover genetic and environmental factors contributing to the disorder.

Misbehaving mice

Thu, 19 Aug 2010 13:00:00 -0700

You'll never hear Jackie Crawley talk about an 'autistic mouse'. In fact, in her keynote address at IMFAR in May, she implored the audience to never use those two words in the same sentence.

Beware the hype

Wed, 18 Aug 2010 14:00:00 -0700

If you believe the hype about oxytocin, it's nothing short of a wonder drug: it can make you trust a stranger, enhance a mother's bond with her child and, according to a study published earlier this year, improve social skills in individuals with autism. But look more closely, and there is ample cause for caution.

Kevin Pelphrey: Charting the course of the social brain

Tue, 17 Aug 2010 14:00:00 -0700

With robust training in developmental psychology and a techie's fervor for new tools, Kevin Pelphrey is systematically investigating how the brain changes during development — starting in infants as young as 6 weeks old.

Diagnostic scans for autism not imminent, experts say

Fri, 13 Aug 2010 11:30:00 -0700

An imaging study widely interpreted as heralding a diagnostic brain scan for autism is more preliminary than popular media reports would indicate, according to experts familiar with the work.

Brain's adaptability begins at single synapse

Tue, 10 Aug 2010 11:00:00 -0700

Researchers have uncovered an important molecular piece of a learning mechanism that occurs at the junction between neurons. The findings, which may help understand how the brain is disrupted in disorders such as autism, appear in the 24 June issue of Neuron.

Simple screens

Tue, 10 Aug 2010 06:00:00 -0700

In the not-too-distant future, we may be able to diagnose toddlers with autism using a simple clinical test — based on voice patterns, blood or even urine.

Fragile X models give clues to stem cell programming

Mon, 09 Aug 2010 09:00:00 -0700

Not all stem cells are created equal, a string of new studies suggests: adult cells that are reprogrammed into stem cells carry chemical remnants of the tissue from which they originate, making them distinct from embryonic stem cells. These differences may have important implications for studying fragile X syndrome and other diseases that arise from epigenetic glitches.

Groups aim to recruit more racial minorities for genetic studies

Fri, 06 Aug 2010 06:00:00 -0700

Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.

Power shortage

Thu, 05 Aug 2010 06:00:00 -0700

One of the largest genome-wide association studies for autism spectrum disorders, reported last week in Human Molecular Genetics, allows only one definitive conclusion: it isn’t large enough.

Dramatic regression leads to severe autism, study finds

Tue, 03 Aug 2010 08:30:00 -0700

Toddlers who abruptly lose language, social or other developmental skills are more likely to have severe autism a few years later compared with children who have consistent delays from an early age. That's the conclusion of the largest study thus far of autism onset patterns, published in the Journal of Autism and Developmental Disorders.

Spoken word

Mon, 02 Aug 2010 12:30:00 -0700

Children with autism are known to have strange rhythms and pitch to their speech, and they speak less often or for shorter periods. Based on these patterns, a company promises to accurately identify children with the disorder.

Scientists flash videos of brain development in fragile X

Fri, 30 Jul 2010 06:00:00 -0700

Scientists have for the first time captured a dynamic picture of brain defects in young mouse models of fragile X syndrome. The findings appeared in June in the Journal of Neuroscience.

Promising treatment

Thu, 29 Jul 2010 07:00:00 -0700

Families affected by fragile X syndrome can let out a modest cheer this week: the largest-ever randomized trial of a drug to treat the syndrome has just cleared its second phase.

Workshop report: Neural circuits

Tue, 22 Jun 2010 13:00:00 -0700

Much of the recent advances in autism have been on the genetic and behavioral levels of dysfunction present in the disorder. Comparatively little is known about altered function in the underlying neural circuitry. Aiming to generate discussion on the best avenues to pursue in order to better understand the circuitry in autism, SFARI on 17 May held a one-day workshop.

Pawan Sinha: Bringing a new vision to autism

Tue, 08 Jun 2010 08:00:00 -0700

In between setting world records, carrying out vision experiments on his infant son, and launching a campaign to build a large eye hospital in New Delhi, Pawan Sinha is illuminating new facets of autism.

Workshop report: Fever and autism

Thu, 01 Apr 2010 07:29:00 -0700

On 5 February 2010, the Simons Foundation gathered a panel of experts to discuss what initially appears to be a surprising and unrelated pair of subjects: autism and fever. Anecdotal reports have found that fever can improve cognitive function and behavior in individuals with autism.

Evan Eichler: Following his instincts to autism 'hotspots'

Mon, 22 Mar 2010 06:00:00 -0700

With an openness to collaboration and a healthy dose of daring, Evan Eichler has turned his offbeat interest in repeat DNA sequences into a new understanding of how genomes evolve, expediting the search for genes disrupted in autism.

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.

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.

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.

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 'frigid' 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 'constitutionally'.

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

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

In 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 patients.

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.”