Autism Research

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.

Differences in white matter fiber tract development present from 6 to 24 months in infants with autism.

Source: 
PubMed
Date Published: 
June 2012
Abstract: 

Results suggest that aberrant development of white matter pathways may precede the manifestation of autistic symptoms in the first year of life.

The geometric structure of the brain fiber pathways.

Source: 
PubMed
Date Published: 
May 11, 2012
Abstract: 

Findings from analyzing relationships of adjacency and crossing between cerebral fiber pathways in four nonhuman primate species and in humans by using diffusion magnetic resonance imaging.

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice.

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

Findings demonstrate new roles for Tsc1 in PC function and define a 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: 
PubMed
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.

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.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Source: 
PubMed
Date Published: 
Oct. 19, 2012
Abstract: 

Identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.

Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism.

Source: 
PubMed
Date Published: 
March. 2013
Abstract: 

Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. This investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in children with autism.