All posts by Rablab

New publication on how Exonic Mosaic Mutations contribute to the risk of ASD

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Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Krupp, D.R., Barnard, R.A., Duffourd, Y., Evans, S.A., Mulqueen, R.M., Bernier, R., Riviere, JB., Fombonne, E., O’Roak, B.J. (2017) The Journal of Human Genetics.

Full Article: Exonic Mosaic Mutations ASD 2017-min

ABSTRACT

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations. We developed a robust and sensitive SNV PMM calling approach integrating complementary callers, logistic regression modeling, and additional heuristics. In our high-confidence call set, we identified 470 PMMs in children, increasing the proportion of mosaic SNVs to 22%. Probands have a significant burden of synonymous PMMs and these mutations are enriched for computationally predicted impacts on splicing. Evidence of increased missense PMM burden was not seen in the full cohort. However, missense burden signal increased in subcohorts of families where probands lacked nonsynonymous germline mutations, especially in genes intolerant to mutations. Parental mosaic mutations that were transmitted account for 6.8% of the presumed de novo mutations in the children. PMMs were identified in previously implicated high-confidence neurodevelopmental disorder risk genes, such as CHD2, CTNNB1, SCN2A, and SYNGAP1, as well as candidate risk genes with predicted functions in chromatin remodeling or neurodevelopment, including ACTL6B, BAZ2B, COL5A3, SSRP1, and UNC79. We estimate that PMMs potentially contribute risk to 3%-4% of simplex ASD case subjects and future studies of PMMs in ASD and related disorders are warranted.

Study: Antidepressants and genetic risk factors increase risk of ASD

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A recent study coauthored by the Bernier Lab’s Dr. Raphael Bernier and Dr. Caitlin Hudac found that antidepressants taken during pregnancy may be associated with an increased severity in autism when combined with underlying genetic risk factors.

Click HERE to read the full article

http://www.channel3000.com/health/study-antidepressants-and-genetic-risk-factors-play-role-in-autism/606016191

 

Solar Eclipse! Tips for watching and preparing your child for the eclipse

Educational, Events, Play

Solar Eclipse! Tips for watching and preparing your child for the eclipse

By Kira Hamer and Emily Fox

On August 21st, 2017 we will have an amazing opportunity to see an almost complete solar eclipse. This is a once-in-a-lifetime experience. While we aren’t directly in the path of the eclipse (you have to go to Oregon for that), we will experience almost total darkness at 10:30am when the moon passes in front of the sun! Many of us might find this experience and the science behind it incredibly exciting, but for some individuals, this event could be confusing, a little frightening, and disrupting to our routines. In this blog post, our team offers some suggestions for how to prepare yourself and your child for the eclipse, as well as some fun activities to do in the Seattle area while it is happening!

Here is a social story to help prepare your child for the Solar Eclipse: I am going to see a solar eclipse

Here is what the eclipse will look like in Seattle: http://bit.ly/2uC1FlT

Facts about the solar eclipse: http://bit.ly/2tm5aKK

How to Protect Your Eyes during the Eclipse

First and foremost: looking directly at the sun without special eye protection can cause serious damage, so always protect your family’s eyes with solar glasses if you want to directly observe the eclipse. According to space.com, there are four companies that meet NASA standards for solar glasses. These are Rainbow Symphony, American Paper Optics, Thousand Oaks Optical, and TSE 17. Your local library may also offer free eclipse glasses! It is important to note that sunglasses are not a replacement for special viewing glasses. If you are unable to find special glasses, another way to view the eclipse safely is to build a pinhole camera. A pinhole camera projects sunlight through a small hole in a box onto the other side of the box, so that you aren’t looking directly at the sun. You can find instructions for building a pinhole camera here.

How to Prepare Your Child for the Eclipse

Like any new experience or change for a child, it can be helpful to practice what you might do the day of the eclipse or to talk about what might happen. Here are some tips to help you and your child prepare:

  • Introduce your child to the solar eclipse using a social story. You can find an example attached. It may be helpful to read the social story several times a few days in advance of the eclipse.
  • Use a stopwatch or a timer to help your child know how much time is left in the eclipse. In most locations, the total eclipse will likely last 2-3 minutes.
  • If you are using solar glasses, help your child practice wearing these glasses so that they can get used to how they feel on their face.
  • Make sure you and your child are wearing sunscreen if you will be outside!
  • If you are worried that being outside during the eclipse will be frightening for your child, watch the eclipse in a different way! NASA will be live-streaming the event, and your child may be more comfortable watching the eclipse inside at home.
  • During the eclipse, the temperature will drop significantly and rapidly. If your family will be outside, plan on bringing an extra coat or a blanket.
  • The sudden darkness during the day will likely create increased traffic. It may be helpful to either plan on staying home for the duration of the eclipse or to get to your viewing spot early. If your child has to attend camp or a school program on the day of the eclipse, you may need to warn them that the drive could be longer or you might have to drive on a different route.
  • Make the experience fun! Color pictures of the sun and the moon, get a book from the library about space and the planets, or take photos of your family on the day of the eclipse. Help your child understand that this is a special and exciting day in science.

Fun Eclipse Activities

The eclipse is a great opportunity to help your kids become real scientists! NASA is asking people in the viewing area to report on what they see and experience. The GLOBE (Global Learning Observations to Benefit the Environment) Observer Eclipse App can be downloaded on your phone, and guides you through how to make observations. NASA is hoping to have a million eclipse viewers contribute their findings!

UW/SCAC SPARK Attends 13th Annual Northwest Autism Conference in Richland, WA

Bernier Lab, Seattle Children's Autism Center, SPARK

Last week, our lead SPARK study coordinator, Emily, visited the Tri-Cities for the 13th Annual Northwest Autism Conference.  This two-day conference is hosted for providers, educators, and family members affected by autism.  Presenters covered a range of topics this year including early identification and intervention, adolescence and puberty, and transition skills for adulthood.  This was the SPARK study’s second year as a vendor at this event.  Emily had a table with study materials for families and providers, and she answered questions from attendees about participating in SPARK and about autism research, in general. It was another great conference year!

Rare Autism-Related Genetic Consultation Clinic at Seattle Children’s Autism Center

Genetics, Seattle Children's Autism Center, Uncategorized
The Seattle Children’s Autism Center has launched the new Rare Autism-Related Genetic Consultation Clinic (RARE Clinic)!

Children born with certain genetic changes (mutations) may have autism spectrum disorder; speech and language disorders; intellectual disabilities; physical differences; seizures; gastrointestinal problems; or sleep concerns. The RARE Clinic will provide a short-term consultation service, usually 3 to 4 appointments in a single day, to help address concerns related to your child’s genetic change. Your child will be see by experts in psychology; speech and language; and pediatrics.

For more information families should call 206-987-8080 and visit the Seattle Children’s Autism Center website!

Genetic changes include:

  • 16p11.2 deletion/duplication
  • ADNP
  • CHD2
  • CHD8
  • DYRK1A
  • GRIN2B
  • POGZ
  • SCN2A
  • TRIP12

 

 

SPARK Webinar 8/16: IEPs

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Click for the PDF of the Webinar: spark_snapshot_report1

Hello SPARK Community Partners!

See below for information about registering for SPARK’s August webinar featuring Jennifer Krumins, M.Ed.  During this webinar, Ms. Krumins will discuss how parents can take an active role in their child’s educational planning and she will answer questions such as:

What is IDEA, and why should you care?

Why is an IEP essential?

Why are you a critical component of the child’s IEP?

Who else is a critical part of the team?

How can you, the parent, build an IEP?

What do you need to know to be an effective team member?

Ms. Krumins is the founder/owner of Autism Aspirations and Autism Aspirations Academy. Prior to starting her own business, she taught in schools for 26 years in Ontario, Canada. She is a passionate international speaker, educator, Certified Leadership Coach, and author. Her Master of Education degree is in applied psychology, and she has studied special education and autism extensively throughout her career.

As a reminder, these monthly webinars are free to families who are registered with SPARK, and are also free for our Community Partners. 

SPARK Webinar: Creating Meaningful Individual Education Plans (IEPs): What Parents Need to Know

Jennifer Krumins, M.Ed.

Wednesday, August 16, 2017

9-10am PST

Click here to register.

Finally, I have also attached the recently-released SPARK Snapshot Report, which describes the current SPARK cohort!

Please do not hesitate to contact me with questions about the webinar or about SPARK.  I can be reached at 206-987-7917 or by email at emily.fox@seattlechildrens.org.