The Bernier Lab’s newest publication focuses on early auditory perception and receptive language in individuals with Autism Spectrum Disorder. We used a speech learning task along with electroencephalogram (EEG) recording to learn more about how individuals with autism process speech sounds in the brain. This study showed us that while neurotypical kids show a decreased response only in the left hemisphere as words become more familiar, kids with autism show a decreased response across both hemisphere as they learn words. This effect was directly related to the autistic kids’ actual receptive language vocabulary. In other words, kids with autism who had better receptive language showed more decreased responses (in both hemispheres) as the new speech became more familiar.
The Bernier Lab’s Dr. Anne Arnett, Sandy Trinh, and Dr. Rapahel Bernier recently published an article titled ‘The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress‘ in Psychology (Volume 27, June 2019, 1-5).
In this article, members of the Bernier Lab summarize the progress we have made in parsing the heterogeneity of ASD through genetics research. In our genotype-first approach, we have begun to identify genetics based subtypes of ASD. The utility of identifying these subtypes ranges from identifying critical gene and protein networks, to implications for pharmacological interventions for ASD. In short, we have made a lot of progress in the recent decades and the Bernier Lab is working together with some other fantastic investigators to execute cutting-edge research on ASD.
Gholson Lyon, assistant professor at Cold Spring Harbor Laboratory in New York found a strong connection between mutations in the NAA15 gene, a protein modifier, and neurodevelopmental delays. Lyon and his team identified 38 people with a harmful NAA15 mutation, 24 of which had autism features and 23 had an intellectual disability. This finding is consistent with a previous global NAA15 sequencing study of more than 13,000 people where 13 individuals were identified with a NAA15 mutation. By comparing genotypes with clinical behavior, the researchers found evidence of motor delays and congenital heart defects. Thus, it is critical for autism treatment and intervention to continue to identify patterns in behavior related to mutations in the NAA15 gene.
A recent publication by Hanyin Chengin, et al, in the American Journal of Human Genetics, and co-authored by the Bernier Lab’s Dr. Raphe Bernier and Dr. Jen Beighley, discusses the truncating variants of the NAA15 gene and its association with ASD, ID and congenital anomalies.
The end of the year is near and it has been a great one for science! Check out this awesome summary of autism research in 2017 by our friends over at the Autism Science Foundation and listen to the year-end summary podcast here:
To assess how much language a person with ASD understands (or, to assess how much receptive language a person with ASD has) researchers use tools that often rely on verbal responses and/or overt behaviors such as pointing and gesturing. This can be problematic considering that many minimally verbal people with ASD have difficulty with these types of feedback. Being able to understand language and being able to appropriately express it are two different processes, and although it is easier to observe and evaluate expressive language (verbal and nonverbal communication of wants and needs), there is certainly a need to develop more accurate ways to assess receptive language to avoid underestimating cognitive abilities of the vast and diverse population of minimally verbal people with ASD.
This article is a review of a variety of assessments and technologies that are currently in use and new ones that have promising future applications all aimed at evaluating language comprehension without the use of verbal or physical feedback. Some of the tools discussed are Eye Tracking, ERPs (Event-Related Potentials) using EEG machines, and MEG brain imaging data. These strategies allow for a more passive study session- one where a participant is asked only to watch videos or listen to sounds and voices all while researchers are still able to obtain data about brain activity and language comprehension.
In this article you will also find a review of various intervention strategies aimed at helping minimally verbal kids develop more expressive language. The strategies and tools referenced here are Naturalistic Behavior Intervention, PECS (Picture Exchange Communication Systems), and Speech Generating Devices (such as the Proloquo2go app). How much these strategies have been shown to increase communication is discussed.
This article is very easy to read, informative, and discusses future directions in the field of research and intervention.
Our Research Team is hosting a PIRATE-THEMED Research Family Fun Day on Saturday, December 2nd! Families interested in participating in autism genetics research will have the opportunity to complete 1-2 research studies in a single day!
The SPARK and PANGEA studies are exploring genetic differences related to autism. Families who attend the family fun day will be able to complete online registration and saliva collection for SPARK and/or a blood draw for PANGEA. There will be food, games, prizes, parking, and childcare available! To RSVP to this event, please contact the research team at 206-987-7917 or at SCACstudies@seattlechildrens.org.
WHAT: Fun, research participation event for families
WHEN: Saturday, December 2 from 9am to 5pm
WHERE: Seattle Children’s Autism Center, 4909 25th Ave NE, Seattle, WA 98105
THEME: Pirates and Buried Treasure!