Autism Science

Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer Model

Source: 
Journal of Neuroimmunology
Date Published: 
November 15, 2012
Abstract: 

"A murine passive transfer model system was employed to ascertain the effects of gestational exposure to a single, intravenous dose of purified, brain-reactive IgG antibodies from individual mothers of children with autism (MAU) or mothers with typically developing children (MTD). Growth and behavioral outcomes in offspring were measured from postnatal days 8 to 65 in each group. Comparisons revealed alterations in early growth trajectories, significantly impaired motor and sensory development, and increased anxiety. This report demonstrates for the first time the effects of a single, low dose gestational exposure of IgG derived from individual MAU on their offspring's physical and social development."

An Integrated Encyclopedia of DNA Elements in the Human Genome

Source: 
Nature
Date Published: 
September 6, 2012
Abstract: 

"The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research."

Blood-based Gene Expression Signatures of Infants and Toddlers with Autism.

Source: 
Journal of the American Academy of Child and Adolescent Psychiatry
Date Published: 
September 2012
Abstract: 

"OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.

RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample."

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