Autism Research

Predicting the Diagnosis of Autism Spectrum Disorder Using Gene Pathway Analysis

Source: 
Molecular Psychiatry
Date Published: 
September 11, 2012
Abstract: 

"The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. "

DSM-5 Field Trials in the United States and Canada, Part II: Test-Retest Reliability of Selected Categorical Diagnoses

Source: 
American Journal of Psychiatry
Date Published: 
October 30, 2012
Abstract: 

"OBJECTIVE The DSM-5 Field Trials were designed to obtain precise (standard error <0.1) estimates of the intraclass kappa as a measure of the degree to which two clinicians could independently agree on the presence or absence of selected DSM-5 diagnoses when the same patient was interviewed on separate occasions, in clinical settings, and evaluated with usual clinical interview methods."

Recognition, Referral, Diagnosis, and Management of Adults with Autism: Summary of NICE Guidance

Source: 
BMJ Group
Date Published: 
June 27, 2012

Atypical Audiovisual Speech Integration In Infants At Risk For Autism

Source: 
PLOS One
Date Published: 
May 15, 2012
Abstract: 

"The language difficulties often seen in individuals with autism might stem from an inability to integrate audiovisual information, a skill important for language development. We investigated whether 9-month-old siblings of older children with autism, who are at an increased risk of developing autism, are able to integrate audiovisual speech cues."

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."

Sensitivity and Specificity of Proposed DSM-5 Diagnostic Criteria for Autism Spectrum Disorder

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

"CONCLUSIONS: Proposed DSM-5 criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research."

A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders

Source: 
Archives of General Psychiatry
Date Published: 
March 2012
Abstract: 

"OBJECTIVE: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites.

CONCLUSION: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function."

The Rising Prevalence of Autism: A Prospective Longitudinal Study in the Faroe Islands

Source: 
Journal of Autism and Developmental Disorders
Date Published: 
September 2012
Abstract: 

"We have followed up a 2002 population study of autism prevalence in 15-24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were-in addition to 43 originally diagnosed cases in 2002-24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7-16) years, but considerable variability as regards diagnostic sub-groupings."

Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children with DSM-IV Diagnoses of Pervasive Developmental Disorders

Source: 
The American Journal of Psychiatry
Date Published: 
October 2012
Abstract: 

"OBJECTIVE: Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.

CONCLUSIONS: These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger's disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation."