Autism Science

Genetic Architecture in Autism Spectrum Disorder.

Source: 
Current Opinion in Genetics and Development
Date Published: 
June 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

The genetic variability and commonality of neurodevelopmental disease.

Source: 
PubMed
Date Published: 
May 15, 2010
Abstract: 

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Source: 
PubMed
Date Published: 
May 22, 2012
Abstract: 

Data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

The Geometric Structure of the Brain Fiber Pathways

Source: 
Science
Date Published: 
March 30, 2012
Abstract: 

Using diffusion magnetic resonance imaging, researchers found cerebral fiber pathways formed a rectilinear three-dimensional grid and Cortico-cortical pathways formed parallel sheets of interwoven paths in four nonhuman primate species and in humans.

Autistic-like Behaviour and Cerebellar Dysfunction in Purkinje cell Tsc1 Mutant Mice.

Source: 
Nature
Date Published: 
August 30, 2012
Abstract: 

Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.

Developmental Trajectories of Resting EEG Power: an Endophenotype of Autism Spectrum Disorder.

Source: 
PLoS One
Date Published: 
2012
Abstract: 

Differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.

Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder.

Source: 
PubMed
Date Published: 
Dec 2012
Abstract: 

A deficit in melatonin production is present both at daytime and at nighttime in individuals with autism, particularly in the most severely affected individuals.

The Complement System: An Unexpected Role in Synaptic Pruning During Development and Disease

Source: 
Annual Review of Neuroscience
Date Published: 
2012
Abstract: 

Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.

Source: 
PubMed
Date Published: 
April 29, 2012
Abstract: 

It is proposed that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.

Autism-associated promoter variant in MET impacts functional and structural brain networks.

Source: 
PubMed
Date Published: 
Sept. 6, 2012
Abstract: 

Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.