Overconnected Brains

Spectrum News discussed a new study from King’s College in London which found that mice lacking CHD8 have higher brain connectivity between the prefrontal cortex and other brain regions. CHD8 controls the structure of chromatin and the expression of several genes that have been linked to autism in humans with CHD8 mutations. The increased synchrony of brain activity in mice with inactive CHD8 is unusual compared to mice with mutations in other autism genes such as 16p11.2, CNTNAP2 and SHANK3b, which show decreased connectivity. Albert Basson, lead investigator of this study, proposes that certain autism subtypes are “characterized by increased long-range functional connectivity rather than reduced.” Indeed, people with the CHD8 mutation have unique features—a large head, motor delays, and wide-set eyes—that suggest a distinct sub-type of autism. However, it is difficult to conclude from mice models if overconnectivity is a consistent characteristic of this mutation. The mice model also did not show any social behavioral issues, which is typical for people with CHD8 mutations. Amongst other researchers, the Bernier lab’s Dr. Raphe Bernier, is currently investigating hyperconnectivity in children with CHD8 mutations, to further explore this relationship.

Check out the full article from Spectrum News here!

Brenna Boyd wins Exceptional Staff Award!

We are so excited to share that the Bernier Lab’s Brenna Boyd was awarded with the Psychiatry and Behavioral Science department’s Exceptional Staff award! As our lab’s supreme long distance runner, we nominated Brenna because of her “SPRINT” characteristics: Spirit, Professionalism, Research acumen, Independence, Neighborly/nice attitude, and Teamwork!

Congratulations to Brenna, we are so proud of you!!!  

Abridged Autism Assessment

How can clinicians shorten the diagnosis process for families sitting on autism evaluation waiting lists? Bernier Lab’s Dr. Jen Gerdts discusses how the Seattle Children’s Autism Center’s team evaluation model, which consists of multiple providers seeing a family in a single day, compared to psychologist- and physician-led models in efficiency and effectiveness for both providers and families. Read the Spectrum news story for more information!

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.

Gatlinburg Conference: An Interview with Bri Cairney

Five members of the Bernier Lab recently attended the Gatlinburg Conference. I interviewed our EEG and Eye Tracking research coordinator Brianna Cairney, who was in attendance, about her experience.

What is this conference about and how does it relate to the research we conduct here in our lab?

The full title of the conference is The Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities. As the title suggests, this conference is focused on research surrounding intellectual and developmental syndromes such as Autism, Downs, Fragile X, ADHD, etc. Gatlinburg has met annually since the 1960s, highlighting a different theme each year. This year’s theme was “Biological and Cultural Perspectives on the Family: Implications for IDD” which directly relates to our work in the lab investigating potential biomarkers of neurodevelopmental disorders using EEG and Eye Tracking measures.

What was the Bernier Lab’s contribution to the conference?

All four of our postdocs, Drs. Caitlin Hudac, Jen Beighley, Anne Arnett, and Jess Peterson, presented a fascinating symposium panel entitled “Uncovering Genetic Subtypes of Neurodevelopmental Disorders.” Each postdoc described the features of a different genetic subtype (SCN2A, CHD8, ADNP, and GRIN2B) that we observed through a variety of behavioral, cognitive, and electrophysiological measures. The four presentations paralleled one another nicely, in part because each presenter used the same unique approach, looking broadly at clinical diagnosis and behavior, and then gradually honing in on information processing, neural activity, and finally genes.

I presented a poster entitled “Evaluation of EEG Success in Populations with Neurodevelopmental Disorders.”

What was your poster about?

Using EEG trail retention data, I showed that although there is a correlation between IQ and EEG success, participants with even very low IQ are, by and large, able to successfully complete EEG. Specifically, 95% of our participants completed EEG. Notably, over 65% of participants with an IQ of less than 55 retained a desirable number of usable trials. Personally, I think this is very exciting, because we are able to capture information about the neural processes of children who might otherwise struggle to complete traditional cognitive testing. For example, three children in my sample were unable to complete IQ testing, yet two of them still successfully completed EEG. Using EEG data, we can learn more about how these kids process information around them and how certain cognitive processes might relate to some of the syndromic features of their diagnoses. For example, in a recently published study by Dr. Hudac et al. (2018), we found that children with autism display a heightened neural response to novel sounds in an auditory task, and was correlated with atypical sensory sensitivities.

The second part of my poster described different strategies we use to ensure participant comfort and compliance before and during sessions, such as sending home a practice EEG netcap and tolerance training plan a few weeks prior to the session and being flexible to the participant’s unique needs and abilities during the session.

What were some of your favorite parts of the conference?

There was a fantastic symposium by Drs. Jane Roberts, Shafali Jeste, Heather Cody Hazlett, and Susan Rivera entitled “Benefits and Challenges of Biomarker Research: Lessons Learned from Studies of Peripheral and Neural Indicators in IDD.” A large part of my job involves conducting EEG and Eye Tracking experiments and I’ll be the first to admit that I’m pretty enthusiastic about using neurophysiological measures to understand IDD. The women presenting in this panel are all prominent researchers who use EEG/ERP, MRI, heart rate, and other physiological measures in their work. They highlighted the advantages of biomarker research (e.g. advances in technology, affordability, ease of utility, theoretical advances, objectivity, ability to elicit responses that are otherwise unobservable) but balanced their praise with a healthy amount of skepticism, identifying some of the challenges and risks. Dr. Roberts cautioned against “objectivity bias” – valuing certain measures (i.e. EEG, eye tracking) as more valuable than behavioral measures, or crediting such methods as more objective than they actually are. She also emphasized the lack of normative data, the challenges surrounding tolerance and compliance to many biomarker measures, and the expertise required to process and interpret biomarker data.

I also really liked the vibe at Gatlinburg. This conference is largely composed of graduate students, postdocs, and fellows, which results in a supportive, welcoming environment where learning and asking questions is encouraged. Additionally, the majority of attendees are female – it’s always cool to see women playing an active role in science and research, especially so in leadership roles. Finally, the conference was held in San Diego this year, so I got to experience a few days of sunshine, which was a welcome break from the gray dreary “April showers” of Seattle. Also I rode a rollercoaster. Twice. And ate tacos every day.

Autism Research Series: Discovery to Solutions – Seattle

On June 14th Seattle Children’s Hospital will host the “Autism Research Series: Discover to Solution”, with Dr. Bernier and Dr. Minjarez on the research panel, hosted by Dr. Hartley from Autism Speaks.
The event is open to the public but RSVP should be done in advance at this link.

This event includes a Resource Fair (5:30 PM-6:30 PM), panel discussion, Q&A session, and many opportunities for networking.

*Ocean Parking is free (upper levels)

Date: Thursday, June 14, 2018
Time: 5:30 PM – 8:30 PM
Location: Ocean Café, located on the Main Hospital Campus, 7th level
Seattle Children’s Hospital
4800 Sand Point Way NE
Seattle, WA 98105