The Spark for Autism study posted an article about the Bernier Lab’s research of CHD8 genetic events and their association with Autism Spectrum Disorder, macrocephaly, GI and sleep problems, and specific facial-features. Read the Full Article Here!
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ABC Center in the News
The Alyssa Burnett Adult Life Center (ABC) is a center for adults with Autism Spectrum Disorder and other developmental disabilities. These centers (e.g. Seattle, Bellevue) offer classes and activities for adults 18 years of age and older that focus on recreation, health and fitness, and life skills.
This year, Bernier Lab staff volunteered at one center providing mock-job interviews to students in a professional skills developing class.
The Seattle Times recently reported a wonderful story about the ABC center’s ‘Spring Fling’, featuring Kelley Fox. The Times Report sends a great message about the work ABC is doing and its impact on families and individuals who attend the centers.
June Autism Blogcast
In this edition of the blogcast, our reporters discuss a possible explanation for the 4:1 male to female ratio bias and subsequent research. Also discussed is the importance of increased representation of the autism community to help drive science and inform school and community forums of the latest findings.
Longitudinal study on 16p11.2 deletion vs duplication
The 16p11.2 deletion or duplication mutation is found on chromosome 16, and prevalent in approximately 1% of people with ASD. The findings of a longitudinal study about 16p11.2 deletion and duplication suggest distinct developmental trajectories. Fifty-six children with these mutations (33 with a 16p11.2 deletion and 23 with a duplication) were followed for several years in order to observe developmental changes. Spectrum News posted a great article about the study, performed by the Bernier Lab and colleagues. Below are excerpts pulled from the article, and the full text can be found here: https://spectrumnews.org/news/chromosome-16-mutations-augur-distinct-developmental-paths/
- Deletions typically lead to an enlarged head and obesity, whereas duplications result in a smaller head and low body weight. Both mutations are associated with language problems, intellectual disability and autism.
- The children with a deletion showed declines in motor and social skills, whereas those with a duplication remained relatively stable in these areas. Both groups of children showed an increase in verbal IQ — which is expected with age — but their behaviors and nonverbal IQ remained relatively stable.
- The researchers did not detect any patterns that distinguish the subset of deletion carriers with autism from the rest of the children with the deletion.
- Among children with a duplication, those who have autism have weaker communication and social skills and lower verbal and nonverbal IQs at age 2 than do those without autism. They also show losses in motor skills and greater gains in verbal IQ with age than those without autism.
Bernier R. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 174, 367-380 (2017) PubMed
New research into a cell’s mitochondria and ASD
Hundreds of genes have emerged as candidates for Autism Spectrum Disorder. However, other genes found in a cell’s mitochondria may also be involved in Autism. Mitochondria, a cell’s organelle that generates the main source of the cell’s energy, may have variants in its DNA (mitochondrial DNA, or mtDNA) that contribute to autism.
Follow the Spectrum News article on the University of Washington’s Dr. Zoran Brkanac research into mtNDA and ASD. https://spectrumnews.org/opinion/viewpoint/new-tools-strengthen-old-link-autism-mitochondria/
May Autism Blogcast
In this edition of the Blogcast, our reporters discuss school voucher programs and new research on advancements in technology and improved screening for autism.