Congratulations to Manasa Acharya, a Junior Microbiology Major and volunteer at the Bernier Lab, for her outstanding presentation at the UW Undergraduate Research Symposium on May 19, 2017!

Manasa’s presented her poster titled “Quantative Analysis of Audiotry Processing in Children with Autism Spectrum Disorder.” For the PDF of Manasa’s poster follow this link: Manasa Poster_2017!

SUMMARY: Atypical sensory behaviors have only recently been included as an explicit symptom of DSM-5 Autism Spectrum Disorder (ASD), despite a considerable history of anecdotal evidence. As a result, sensory behaviors are not well characterized in ASD research. In the current study, we aim to fill a gap in the literature by specifically investigating auditory processing in 143 children with ASD and/or a likely gene disrupting mutation (LGDM) associated with ASD. Participants’ parents completed the Sensory Profile Caregiver Questionnaire about their child and psychiatric symptoms were assessed via a comprehensive evaluation with a licensed clinical psychologist. We hypothesized that responses on the Sensory Profile would reflect either hypo- or hyper-sensitivity to auditory stimuli. We predicted that extreme hypo- or hyper-auditory responses would reflect separate deficits, rather than a continuum of auditory sensitivity. We also predicted that we would see unique auditory response profiles associated with LGDMs in particular gene groups. Our results will be discussed with regard to current theories and information about sensory abnormalities in children with ASD. The results and findings from this study could be used to help lay a foundation regarding sensory markers and auditory processing deficiencies in children with ASD, a topic that is fairly new and has not been thoroughly investigated.

Children with mutations in a gene called DYRK1A, a leading autism candidate, have a distinct set of features, including intellectual disability, speech delay, motor problems and a small head.

The Bernier Lab’s Rachel Earl presented these findings at a panel at the 2017 IMFAR conference. Follow this link for the full article from Spectrum News!

Bernier Lab’s Dr. Caitlin Hudac is featured in Spectrum News for her and the lab’s work with SCN2A mutations.  The research used EEG to pick up the brain’s response to sound.  Check out the full article here!

Dr. Hudac presented her research findings at IMFAR 2017.

We previously reported on new ADNP research spearheaded by a Washington State mother that identified biomarkers for the rare genetic event.  Spectrum magazine discusses a full set of baby teeth, including molars, as a biomarker for ADNP.  In the article, the Bernier Lab’s Dr. Raphe Bernier discusses similar findings observed in individuals with DYRK1A genetic events, including an atypically small head size and teeth crowding.

Follow this link for the full article!

Members of the Bernier Lab contributed to a publication about TRIP12 gene mutations, which can lead to intellectual disability, language delay and autism spectrum disorder.  In an interview with Spectrum news about the TRIP12 genes, Raphe says: “By assessing across clinical diagnostic boundaries, we can get a better sense of what the ‘real’ phenotype is”.

Follow this link to read the Spectrum Article titles “Rare mutation linked to autism affects language ability” by Jessica Wright.

Links to the journal articles referenced in the Spectrum article:

Bramswig N.C. et al. Hum. Genet. 136, 179-192 (2017) PubMed

Zhang J. et al. Hum. Genet. 136, 377-386 (2017) PubMed