featured

Use this feature to promote an article to the front page.

Study Pinpoints Autism Gene in Mutation-Prone Region

Source: 
Simons Foundation Autism Research Institute
Date Published: 
January 27, 2013
Abstract: 

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published in the Proceedings of the National Academy of Sciences. The 15q13.3 chromosomal region is a hotbed of tiny genetic deletions and duplications connected to disorders of brain development.

New Imaging Method Details Brain Abnormalities in Mice

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
November 14, 2013
Abstract: 

A new imaging technique that can assemble finely detailed pictures of an individual mouse’s brain in less than a day is being used to explore mouse models of autism. The automated technique cuts a mouse brain into 280 thin slices, which are scanned by a powerful microscope and the resulting images are then stitched together into a three-dimensional view. The researchers used this technique to investigate the imbalance of excitatory and inhibitory signals in a mouse model of 16p11.2 deletion. People missing this chromosomal region have an increased risk for autism, and about one-quarter have epilepsy, in which an excess of excitatory signals causes seizures.

Adults with Autism Can't Discern False Emotions

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
January 17, 2014
Abstract: 

Adults with autism usually understand in theory when and why others may feign emotions, but they don’t recognize those expressions in real-life situations, reports a study published in Autism Research. This inability to guess what triggered someone’s subtle expression can lead to social missteps — congratulating instead of consoling a disappointed friend, for example.

Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates

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

Researchers found that estimates of the number of children with ASD might be lower using the current DSM-5 criteria than using the previous criteria. This study looked at information collected by CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network. This is the first population-based study in the United States to look at what effect the updated ASD criteria in the DSM-5 might have on estimates of the number of children with ASD. One of the advantages of the ADDM Network method is that it does not rely solely on the presence of an ASD diagnosis, but also includes review of records for children who have behaviors consistent with ASDs, even if they do not have a diagnosis. Because of the way the ADDM Network collects data, in the future CDC will be able to use both the previous DSM-IV-TR and the current DSM-5 criteria to estimate the number of children with ASD. CDC will also continue to evaluate the effect of using the DSM-5 on trends in how doctors and other health professionals diagnose ASD and how service providers evaluate and document symptoms as they transition to using the new criteria.

Electronic Medical Records May Reveal Subgroup of Autism

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
January 16, 2013
Abstract: 

Some children diagnosed with autism may fall into distinct subgroups based on their symptoms and other diagnoses, researchers report in the January issue of Pediatrics. The three subgroups identified in the study show some overlap in symptoms, but each is characterized by a distinct set of features: seizures, general health problems such as gastrointestinal distress, and psychiatric problems. The analysis relied on the largest database yet, and looked at symptoms over time.

Lack of Training Begets Autism Diagnosis Bottleneck

Source: 
Simons Foundation Autism Research Institute
Date Published: 
January 13, 2014
Abstract: 

One of the frustrations that parents of children with autism most commonly voice is the long wait for a diagnosis. In the meantime, the children grow up and out of the critical period for early intervention. The scenario for adults seeking an autism diagnosis is even grimmer, as there are fewer practitioners experienced in caring for adults with autism than in caring for children with the disorder. There are few comprehensive statistics about waiting times, but the bottlenecks in access to autism diagnosis and care are widely acknowledged. These concerns are spurring the medical community to take a hard look at the failings of professional training in contributing to the problem.

Catalog of Symptoms Aims to Unravel Autism Diversity

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
January 8, 2014
Abstract: 

Researchers have standardized labels for nearly 300 traits of autism, drawn from 24 diagnostic tests for the disorder, they reported in Neuroinformatics. They can use these terms to search for certain traits among large catalogs of the genetics and symptoms of people with autism. The new study aims to build a defined list, or ontology, of the traits these tests assess. The goal is to allow researchers to compare results across different diagnostic tests and identify the same features, regardless of the test used. The new tool can also help classify individuals with autism into subgroups, which may reflect different causes of the disorder.

Prospective Examination of Visual Attention During Play in Infants at High-Risk for ASD

Source: 
Behavioral Brain Research
Date Published: 
September 1, 2013
Abstract: 

Regulation of visual attention is essential to learning about one's environment. Children with autism spectrum disorder (ASD) exhibit impairments in regulating their visual attention, but little is known about how such impairments develop over time. This prospective longitudinal study is the first to describe the development of components of visual attention, including engaging, sustaining, and disengaging attention, in infants at high-risk of developing ASD (each with an older sibling with ASD). Non-sibling controls and high-risk infant siblings were filmed at 6, 9, 12, 15, 18, 24, and 36 months of age as they engaged in play with small, easily graspable toys. Duration of time spent looking at toy targets before moving the hand toward the target and the duration of time spent looking at the target after grasp were measured. At 36 months of age, an independent, gold standard diagnostic assessment for ASD was conducted for all participants. As predicted, infant siblings subsequently diagnosed with ASD were distinguished by prolonged latency to disengage ('sticky attention') by 12 months of age, and continued to show this characteristic at 15, 18, and 24 months of age. The results are discussed in relation to how the development of visual attention may impact later cognitive outcomes of children diagnosed with ASD.

Parents' First Concerns about Toddlers with Autism Spectrum Disorder: Effect of Sibling Status.

Source: 
Autism
Date Published: 
November 11, 2013
Abstract: 

Symptoms of autism spectrum disorders may appear as early as 6 months, but parent concern, which can precipitate evaluation, often lags significantly. The presence of typical or atypical older siblings can change parents' sensitivity to departures from typical development. This study investigated type and age of parent's first concerns in toddlers with autism spectrum disorder, prior to diagnosis. Participants had (1) at least one older sibling with autism spectrum disorder (Sibs-ASD); (2) only typically developing older siblings (Sibs-TD), or (3) were only/oldest (No-Sibs). Specific autism spectrum disorder diagnoses and symptom severity were similar among groups. Developmentally, No-Sibs showed the largest delays, followed by Sibs-TD, followed by Sibs-ASD. Mean age of first concern was 16 months for No-Sibs, 14 months for Sibs-TD, and 10 months for Sibs-ASD. Age of first concern differed significantly by group, even after controlling for mother's age and education. Concern about language was prevalent in all groups. Thus, the presence of an older child with typical or, especially, atypical development was associated with earlier concerns for the affected child, despite milder developmental delays. These findings underscore the importance of encouraging parents to report concerns to pediatricians, routine standardized screening for autism spectrum disorder, and the need for pediatrician vigilance, especially for only or oldest children.

Reward Affects Motor Function in Rett

Source: 
Simons Foundation Autism Research Institute
Date Published: 
January 10, 2014
Abstract: 

The motor problems seen in Rett syndrome may be the result of deficits in a pathway that mediates reward in the striatum, a brain region that coordinates movement, according to a study published in Brain Structure and Function. Studies have shown that loss of MeCP2 in the front of the brain is sufficient to lead to Rett-like symptoms in mice. The forebrain includes the striatum, which integrates information from other brain regions to help plan and coordinate movement. The new study found that mice that model Rett syndrome have significantly less dopamine — a chemical messenger that mediates reward — in the striatum than controls do. The study suggests that changes in dopamine levels influence neural circuits in the striatum that regulate motor function.