Category Archives: Research

Bernier Lab Interns Present at the 2019 UW Undergraduate Research Symposium!

Interns from the Bernier Lab presented their research at the 22nd Annual Undergraduate Research Symposium at the University of Washington’s Mary Gates Hall on Friday, May 17th 2019. The Undergraduate Research Symposium at UW is one of the nation’s largest undergraduate symposiums, with nearly a thousand posters from across a wide variety of disciplines submitted from undergraduates who are representing their departments and research. In order to present at this event, our interns had to apply, write an abstract, collect their data, run statistics, and design their posters to clearly display their research findings.  Interns were supported by mentors from the lab, including staff, graduate students and post-docs. Three posters from four of the Bernier Lab’s undergraduate interns were selected for presentation in the 2019 Symposium:

Lauren ‘Koko’ Hall (pictured above) presented a poster titled: Maternal Thyroid Dysfunction, Likely Gene Disrupting Mutations and the Impact on ASD Severity.

Aiva Petriceks and Christine Haensli (pictured above) worked together to present a poster titled: An Exploration of Behavioral Phenotypes Related to DYRK1A and ADNP Gene Mutations Associated with Autism Spectrum Disorder.

 

Katherine Wadhwani (pictured above) presented a poster titled: Alpha Power in ASD.

We are so proud of our interns for their hard work and dedication! If you’re interested in reading their posters in detail, follow this link: UW Undergraduate Symposium.

Auditory Perception and Implicit language learning publication!

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.

Anne Arnett, Caitlin Hudac, Trent DesChamps, Brianna Cairney, Jennifer Gerdts, Arianne Wallace, Raphael Bernier, Sara Webb

The State of Research on the Genetics of ASD

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.

The NAA15 Gene Mutation

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.

Read the full spectrum news article here.

Science Summary: Assessing Language in Minimally Verbal Children with ASD

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.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869868/