Phenotypic Heterogeneity of ASD and Its Association with Early Identification
Matthew Maenner and a team of researchers from University of Wisconsin-Madison, University of Arizona College of Medicine, University of Pennsylvania, Johns Hopkins Bloomberg School of Public Health, Medical University of South Carolina, National Center on Birth Defects and Developmental Disabilities, and University of Alabama at Birmingham led this study to describe the frequency of behavioral impairments among children meeting surveillance and screening criteria for ASD, and determine whether the behavioral impairments of children who met criteria differed depending on whether they had been previously identified as having ASD.
Findings from this study may aid in the improvement of early identification efforts, because they suggest that impairments related to social interaction, repetitive behaviors and restricted interests appear more likely to trigger a diagnosis or special education classification of ASD than impairments related to verbal communication. Consideration of possible combinations of impairments that meet diagnostic criteria for ASD and the relative frequency of each combination in the population may provide insight into identification and prevalence disparities.
Watch a video of Matthew Maenner discussing his research on ASD diagnosis.
Behavioral & GI Study
Association Between Behavioral Features and Gastrointestinal Problems Among Children with Autism Spectrum Disorder
The study used data from a population-based sample of 487 children with ASD to evaluate the feasibility of an Autism Forum panel’s recommendation that certain behaviors could help clinicians predict which children with ASD need to be evaluated for possible GI problems. They found that some behaviors were significantly associated with GI problems, but these behaviors were also very common in children with ASD who do not have medically documented GI problems. Nearly 99% of all children in the sample exhibited at least 1 of the behaviors. Therefore, as screening items, these behaviors offered very little in terms of positive predictive value for identifying GI problems.
Using population-based data from the CDC’s ADDM Network, the authors also observed that children with ASD and medically documented GI problems were more likely to have delayed motor milestones or seizure-like activity than children with ASD and no GI problems. This is consistent with previous research that found GI problems were more common among children with ASD who also have other developmental disabilities, including cerebral palsy and epilepsy. Read more about this study.
Frontal Asymmetry & Temperament Study
Frontal Asymmetry and Temperament In Young High Functioning Children with ASD
Karen Burner and a team of researchers from University of Washington Autism Center led this EEG study to further examine temperament and how it relates to frontal asymmetry in individuals with ASD. In typically developing children, frontal asymmetry has been associated with temperamental factors, and studies of temperament in autism suggest that children with ASD have lower positive affect and higher negative affect compared to their typical peers. Results from this study supported previous findings of temperamental differences in children with ASD, including difficulties with attention shifting and inhibitory control, decreased expression of positive affect, and higher rates of negative affect.
Shank3 Gene Study
Mouse Model Mimics a Human Mutation of Gene Known to be Associated With ASD
Experiments with the engineered mouse reveal a molecular mechanism by which mutations of the gene named Shank3 affect the brain and behavior to evoke an autism-like disorder in mice. Reporting in the May 27, 2011 issue of Cell, the Johns Hopkins team reveals how a mutation of Shank3 leads to altered communication between brain cells at synapses-the gaps between cells across which electrical information flows. This work was supported by NINDS, NIMH, Autism Science Foundation, Autism Speaks, National 973 Basic Research Program of China, The Hartwell Foundation and the NIDCD Intramural Program.
Nearly 50% of Children with Autism Wander, Study Reports
A recent survey, conducted by the Interactive Autism Network and funded by a consortium of autism advocacy groups led by the Autism Science Foundation reported in April, 2011 that children and adults with ASDs and other developmental disabilities are at higher risk of wandering off than are children and adults without these disorders or other cognitive disorders. The survey, led by Dr. Paul Law of the Kennedy Krieger Institute, found that approximately 50% of children with autism eloped, with the behavior peaking at age four. Among these families, nearly 50% say that their child went missing long enough to cause significant concern about safety. 35% of parents reported their missing child had a close call with a traffic injury and 32% of parents reported a close call with a possible drowning. Wandering was ranked among the most stressful ASD behaviors by 58% of parents of elopers. The results of this survey were used to create a new CDC medical subclassifcation code for autistic wandering to protect children. The code went into effect in October, 2011.