Autism Research

Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum Disorders

Source: 
October 1, 2012
Date Published: 
Research in Developmental Disabilities
Abstract: 

This study examines the effects of sleep problems on daytime cognitive and adaptive functioning in children with ASD.

Mindfulness-based Therapy in Adults with an Autism Spectrum Disorder: a Randomized Controlled Trial

Source: 
Research in Developmental Disabilities
Date Published: 
January 1, 2013
Abstract: 

This is the first randomized controlled trial demonstrating the efficacy of mindfulness-based therapy for adults with ASD. Participants who received MBT benefited from the therapy, showing less depression, anxiety and rumination, and more positive affect.

Elevated Maternal C-reactive Protein and Autism in a National Birth Cohort

Source: 
Molecular Psychiatry
Date Published: 
January 22, 2013
Abstract: 

Large national birth cohort study links elevated maternal C-reactive protein (a marker of systemic inflammation) to increased autism risk.

Impaired Coordination of Brain Activity in Autism Involves Local, as Well as Long-Range, Signaling

Source: 
Science Daily
Date Published: 
January 14, 2013
Abstract: 

MEG study finds diminished long-range and local functional connectivity as individuals with ASD viewed faces. The study challenges the popular assumption that only long-range connectivity is reduced in ASD.

Childhood Immunization Schedule and Safety: Stakeholder Concerns, Scientific Evidence, and Future Studies

Source: 
Institute of Medicine of the National Academies
Date Published: 
January 16, 2013
Abstract: 

The Institute of Medicine issues a report in response to questions about the safety of the vaccination schedule for children under age six. Thorough examination of the immunization schedule reveals no major concerns associated with adherence to recommended practices.

Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders

Source: 
Cerebral Cortex
Date Published: 
June 1, 2012
Abstract: 

"The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). "

Genetic and Functional Analyses of SHANK2 Mutations Suggest A Multiple Hit Model of Autism Spectrum Disorders

Source: 
PLOS Genetics
Date Published: 
February 2012
Abstract: 

"Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD."

The Role of the Amygdala In Atypical Gaze On Emotional Faces In Autism Spectrum Disorders

Source: 
Journal of Neuroscience
Date Published: 
July 11, 2012
Abstract: 

"Reduced focus toward the eyes is a characteristic of atypical gaze on emotional faces in autism spectrum disorders (ASD). Along with the atypical gaze, aberrant amygdala activity during face processing compared with neurotypically developed (NT) participants has been repeatedly reported in ASD. It remains unclear whether the previously reported dysfunctional amygdalar response patterns in ASD support an active avoidance of direct eye contact or rather a lack of social attention. Using a recently introduced emotion classification task, we investigated eye movements and changes in blood oxygen level-dependent (BOLD) signal in the amygdala with a 3T MRI scanner in 16 autistic and 17 control adult human participants. By modulating the initial fixation position on faces, we investigated changes triggered by the eyes compared with the mouth. Between-group interaction effects revealed different patterns of gaze and amygdalar BOLD changes in ASD and NT: Individuals with ASD gazed more often away from than toward the eyes, compared with the NT group, which showed the reversed tendency. An interaction contrast of group and initial fixation position further yielded a significant cluster of amygdala activity. Extracted parameter estimates showed greater response to eyes fixation in ASD, whereas the NT group showed an increase for mouth fixation. The differing patterns of amygdala activity in combination with differing patterns of gaze behavior between groups triggered by direct eye contact and mouth fixation, suggest a dysfunctional profile of the amygdala in ASD involving an interplay of both eye-avoidance processing and reduced orientation."

Structure, Function and Diversity of The Healthy Human Microbiome

Source: 
Nature
Date Published: 
June 13, 2012
Abstract: 

"Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains unexplained, although diet, environment, host genetics and early microbial exposure have all been implicated. Accordingly, to characterize the ecology of human-associated microbial communities, the Human Microbiome Project has analysed the largest cohort and set of distinct, clinically relevant body habitats so far. We found the diversity and abundance of each habitat's signature microbes to vary widely even among healthy subjects, with strong niche specialization both within and among individuals. The project encountered an estimated 81-99% of the genera, enzyme families and community configurations occupied by the healthy Western microbiome. Metagenomic carriage of metabolic pathways was stable among individuals despite variation in community structure, and ethnic/racial background proved to be one of the strongest associations of both pathways and microbes with clinical metadata. These results thus delineate the range of structural and functional configurations normal in the microbial communities of a healthy population, enabling future characterization of the epidemiology, ecology and translational applications of the human microbiome."

Fractionation of Social Brain Circuits in Autism Spectrum Disorders

Source: 
Brain
Date Published: 
September 2012
Abstract: 

"Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes."