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Suicide, self-harm and genetics in autism

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This week’s podcast covers two new papers of interest to the autism community. First, another study showing increase in self harm and suicide in those with autism – no new news there – but a new discovery this week showed a vulnerability of females with a diagnosis. The study also explores the lower rate of suicide in those with IDD but higher rate of self harm in this same group. Second, the mystery of autism genetics is slowly unveiled. Why is rare variation so influential in an autism diagnosis? As it turns out those with rare variation also have common variation, piling on the genetic liability in this group. Common variation is also uniquely linked to language delay in autism, so is this a core feature? Links below are the scientific articles as well as resources to support those dealing with mental health problems in the autistic community.

Mental health links:

https://vkc.vumc.org/assets/files/resources/mental-health-toolkit.pdf

https://www.camh.ca/-/media/files/cundill-centre/depression-and-autism-full-pdf.pdf

https://www.yorku.ca/health/lab/ddmh/wp-content/uploads/sites/407/2021/04/Mental-Health-Literacy-Guide-for-Autism_Section-9.pdf

https://www.azrieli-anc.com/autism-mental-healthhttps://www.autism.org.uk/advice-and-guidance/topics/mental-health/suicide#How%20do%20I%20get%20help%20and%20support

Articles:

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2808056

Genetics study is OPEN ACCESS: https://www.pnas.org/doi/abs/10.1073/pnas.2215632120?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed

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Super, Superb and Sensational Siblings

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Siblings of people on the spectrum, including autistic adults, are amazing. They support, advocate, fundraise, and now we know they actually have a direct influence on the outcome of their affected brother or sister. What’s that effect? When is it most obvious? Does gender or race matter? All of these questions will be answered by Nicole Rosen of UCLA on this week’s #ASFpodcast. And make sure to tune on on September 8th to or Sam’s Sibs Stick Together webinar. Info below.

https://pubmed.ncbi.nlm.nih.gov/34120483/

https://autismsciencefoundation.org/resources/sams-sibs-stick-together/
click here for a link to register for September 8th
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You asked, we answered: what is the connection between the ‘gut’ and the brain?

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On this week’s podcast, we answer your question: “what’s the evidence of a gut-brain connection”? We can’t answer that question without starting off with a description of the microbiome. The microbiome is the colony of organisms in your gastrointestinal system that is showing increasing evidence of influencing brain function. We asked three experts: Calliope Holingue from JHSPH, Helen Vuong from UCLA and Stewart Campbell of Axial Therapeutics what is happening in research around the microbiome in autism, and what therapeutics are being developed to help those with GI issues and ASD.

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How you doin’?

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We are now about 8 months into the pandemic and the effects of social distancing. How are families doing? What are scientists doing to understand the effects and ways to help families in the future? This podcast describes four international studies that addressed what families were experiencing and how they were coping. A list of references is below:

https://www.mdpi.com/2077-0383/9/9/2937/htm

https://pubmed.ncbi.nlm.nih.gov/32899799/

https://pubmed.ncbi.nlm.nih.gov/32503172/

https://pubmed.ncbi.nlm.nih.gov/32808424/

https://pubmed.ncbi.nlm.nih.gov/32939917/

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Telehealth: does it work?

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This week’s podcast is focused on a topic many of you may be learning about now: Telehealth. This is remote delivery of care through the telephone or a video chat. If your healthcare appointment has not been cancelled, it’s been moved to Telehealth. If you need to talk to a doctor, it will probably be done through Telehealth. So what is it? Is it helpful? Is there enough right now to say? This podcast covers all of these things for families to get a better handle of what they are getting themselves into.

https://www.ncbi.nlm.nih.gov/pubmed/31969108
https://www.ncbi.nlm.nih.gov/pubmed/30155578
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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.

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Reusing and recycling autism data from brain tissue

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In a new study in animal models, researchers demonstrate how genetic variability in key risk genes leads to different brain development patterns.  Studying the brains of people with autism is challenging, since there are fewer resources to study.  However, scientists get creative and collaborative and re-analyze datasets previously published to look at different research questions.  That’s what happened this week in a collaboration between Brown University and UCLA, showing that as the activity of genes which controls the synapse goes down, so do genes affecting mitochondrial function.  Another brain tissue study showed that the stress of the endoplasmic reticulum, which is associated with the mitochondria, may be elevated.  Not all research data can be re-purposed again, which is why it is so important to study the brains of people with autism.  If you would like to learn more, go to www.takesbrains.org/signup

 

https://www.ncbi.nlm.nih.gov/pubmed/29859039

https://www.ncbi.nlm.nih.gov/pubmed/29761862

https://www.ncbi.nlm.nih.gov/pubmed/29901787

https://www.ncbi.nlm.nih.gov/pubmed/29926239

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Another groundbreaking study thanks to brain tissue

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The media accurately described a recent study from Dan Geschwind’s lab at UCLA as “groundbreaking”.  That’s because the findings help people with autism better understand how and why their symptoms are different to other mental conditions, specifically bipolar depression and schizophrenia.  It turns out the gene expression patterns in the brains of people with autism are similar to those with bipolar depression and schizophrenia, but not alcoholism or major depression.   It also offers hope for a more accurate biological signature of autism that can be distinguished from bipolar depression and schizophrenia.    Below is a graph that represents these different profiles, and if you want to read a version of the article that is available online (but before it was peer reviewed in the journal Science) you can find it here: https://www.biorxiv.org/content/biorxiv/early/2016/02/18/040022.full.pdf Gandal

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Chromosome 15-apallooza

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One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.