Biomarkers

Study: Autism Can Be Diagnosed with 15 Minute Brain Scan

Source: 
Bloomberg
Date Published: 
August 10, 2010
Abstract: 

A 15-minute brain scan identified adults with autism almost as effectively as conventional methods of diagnosis that rely on interviews with patients and their families, U.K. scientists said. The scan detected more than 90 percent of the autistic patients who had been diagnosed using intelligence tests, psychiatric interviews, physical examinations and blood tests, according to a study by King’s College London researchers.

Functional impact of global rare copy number variation in autism spectrum disorders

Source: 
Nature
Date Published: 
June 7, 2010
Abstract: 

This study analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs), especially so for loci previously implicated in either ASD and/or intellectual disability. Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

Mutations in the SHANK2 Synaptic Scaffolding Gene in Autism Spectrum

Source: 
Nature Genetics, Berkel et al
Date Published: 
June 2010
Year Published: 
2010

Using microarrays, the department of molecular human genetics in Heidelberg, Germany identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Their findings further link common genes between ASD and intellectual disability.

IntegraGen Announces Publication of Four Genetic Variants in Autism

Source: 
Medical News Today
Date Published: 
May 14, 2010
Abstract: 

IntegraGen SA, a French biotechnology company dedicated to gene discovery, announced today the publication of the results of a collaborative study reporting the use of a combined analysis of multiple genetic variants in a genetic score to help identify individuals at high risk of developing autism.

Schizophrenia Shares Genetic Links with Autism, Genome Study Shows

Source: 
Scientific American
Date Published: 
May 10, 2010
Abstract: 

Schizophrenia involves some of the same genetic variations as autism and attention deficit disorders, a new whole-genome study has confirmed. In an effort to assess some of the common genetic variations that might underpin this fairly common but thorny mental illness, researchers sequenced DNA from 1,735 adults with schizophrenia and 3,485 healthy adults. Across the patients that had the disease, the researchers found many frequent variations related to copying or deleting genes, known as copy-number variations.

Extremely Preterm Children are Three Times As Likely to Have Psychiatric Disorder

Source: 
Science Daily
Date Published: 
April 25, 2010
Abstract: 

Significant advances in the neonatal intensive care have resulted in increased survival rates of children who are born at less than 26 weeks of gestation, so termed "extremely preterm children." Notably, however, improved survival rates have been accompanied by a higher risk for later cognitive, neuromotor, and sensory impairments in these children.

More Accurate Picture of Autistic Brain

Source: 
HealCanal.com
Date Published: 
April 13, 2010
Abstract: 

A new study, the first of its kind, combines two complementary analytical brain imaging techniques to provide a more comprehensive and accurate picture of the neuroanatomy of the autistic brain.

Link Between Advanced Maternal Age and Autism Confirmed

Source: 
Science Daily
Date Published: 
February 8, 2010
Abstract: 

Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers. Advanced paternal age is associated with elevated autism risk only when the father is older and the mother is under 30, the study found.

Time to Regroup on Autism

Source: 
CNN.com
Date Published: 
February 3, 2010
Abstract: 

Alison Singer says link between autism, vaccinations debunked but research progressing. But, she says, new science is overshadowed as some cling to discredited study. Some parents put kids in danger by still avoiding vaccines, trying dicey "therapies". New research should move forward with science as a guide.

Autism-Risk Gene Rewires the Brain in a Way That Disrupts Learning and Language Acquisition

Source: 
Medical News Today
Date Published: 
November 3, 2010
Abstract: 

Researchers at UCLA have discovered how an autism-risk gene rewires the brain, which could pave the way for treatments aimed at rebalancing brain circuits during early development. Dr. Geschwind and team examined the variations in brain function and connectivity resulting from two forms of the CNTNAP2 gene - one form of the gene increases the risk of autism. The researchers suspected that CNTNAP2 might have an important impact on brain activity. They used fMRI (functional magnetic resonance imaging) to scan 32 children's brains while they were performing tasks related to learning. Only 16 of them had autism.

The imaging results confirmed their suspicions. All the children with the autism-risk gene showed a disjointed brain, regardless of their diagnosis. Their frontal lobe was over-connected to itself, while connection to the rest of the brain was poor, especially with the back of the brain. There was also a difference between how the left and right sides of the brain connected with each other, depending on which CNTNAP2 version the child carried.

The authors believe their findings could help identify autism risk earlier, and eventually lead to interventions that could enhance connections between the frontal lobe and the left side of the brain.