Autism Science

Infant Neural Sensitivity to Dynamic Eye Gaze Is Associated With Later Emerging Autism

Source: 
Current Biology
Date Published: 
February 21, 2012
Abstract: 

"Autism spectrum disorders (henceforth autism) are diagnosed in around 1% of the population [1]. Familial liability confers risk for a broad spectrum of difficulties including the broader autism phenotype (BAP) [2, 3]. There are currently no reliable predictors of autism in infancy, but characteristic behaviors emerge during the second year, enabling diagnosis after this age [4, 5]. Because indicators of brain functioning may be sensitive predictors, and atypical eye contact is characteristic of the syndrome [6-9] and the BAP [10, 11], we examined whether neural sensitivity to eye gaze during infancy is associated with later autism outcomes [12, 13]. We undertook a prospective longitudinal study of infants with and without familial risk for autism. At 6-10 months, we recorded infants' event-related potentials (ERPs) in response to viewing faces with eye gaze directed toward versus away from the infant [14]. Longitudinal analyses showed that characteristics of ERP components evoked in response to dynamic eye gaze shifts during infancy were associated with autism diagnosed at 36 months. ERP responses to eye gaze may help characterize developmental processes that lead to later emerging autism. Findings also elucidate the mechanisms driving the development of the social brain in infancy."

A Stable Pattern of EEG Spectral Coherence Distinguishes Children with Autism From Neuro-typical Controls - A Large Case Control Study

Source: 
BMC Medicine
Date Published: 
June 26, 2012
Abstract: 

"BACKGROUND: The autism rate has recently increased to 1 in 100 children. Genetic studies demonstrate poorly understood complexity. Environmental factors apparently also play a role. Magnetic resonance imaging (MRI) studies demonstrate increased brain sizes and altered connectivity. Electroencephalogram (EEG) coherence studies confirm connectivity changes. However, genetic-, MRI- and/or EEG-based diagnostic tests are not yet available. The varied study results likely reflect methodological and population differences, small samples and, for EEG, lack of attention to group-specific artifact.

RESULTS: Total sample PCA [principal components analysis] of coherence data identified 40 factors which explained 50.8% of the total population variance. For the 2- to 12-year-olds, the 40 factors showed highly significant group differences (P < 0.0001). Ten randomly generated split half replications demonstrated high-average classification success (C, 88.5%; ASD, 86.0%). Still higher success was obtained in the more restricted age sub-samples using the jackknifing technique: 2- to 4-year-olds (C, 90.6%; ASD, 98.1%); 4- to 6-year-olds (C, 90.9%; ASD 99.1%); and 6- to 12-year-olds (C, 98.7%; ASD, 93.9%). Coherence loadings demonstrated reduced short-distance and reduced, as well as increased, long-distance coherences for the ASD-groups, when compared to the controls. Average spectral loading per factor was wide (10.1 Hz)."

Autism Genetic Testing: A Qualitative Study of Awareness, Attitudes, and Experiences among Parents of Children with Autism Spectrum Disorders.

Source: 
Genetics in Medicine
Date Published: 
January 3, 2013
Abstract: 

This study provides insight into awareness, perspectives and experiences of ASD genetic testing among parents of autistic children.

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

Source: 
Neuron
Date Published: 
December 20, 2012
Abstract: 

Dr. Joseph Buxbaum and team discuss the current state of ASD gene discovery and the benefits of a genomic technology called high-throughput sequencing.

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Source: 
Cell
Date Published: 
December 21, 2012
Abstract: 

UCSD researchers suggest genes linked to autism have higher mutation rates than other genes.

Notable Papers of 2012

Source: 
SFARI
Date Published: 
December 26, 2012
Abstract: 

SFARI's top ten autism research papers of 2012

Genomic Technology Reveals Hundreds of Autism Gene Mutations

Source: 
Laboratory Equipment
Date Published: 
December 20, 2012
Abstract: 

ASF SAB member Dr. Joe Buxbaum on his new gene discoveries using high-throughput sequencing:
"By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals. It is a transformative time for genetic research in autism."

Functional magnetic resonance imaging of autism spectrum disorders

Source: 
Dialogues in Clinical Neuroscience
Date Published: 
December 10, 2012
Abstract: 

Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.

FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Source: 
Nature
Date Published: 
December 12, 2012
Abstract: 

Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.