Posted on

Suicide, self-harm and genetics in autism

Podcast: Play in new window | Download

Subscribe: RSS

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

Posted on

Animal models can explain heterogeneity

Podcast: Play in new window | Download

Subscribe: RSS

Just like no two people are the same, no two strains of mice are the same. Using dozens of different strains of mice with and without a genetic mutation associated with autism called CHD8, researchers at University of Southern California showed great variability in the effect of this mutation on behaviors associated with neurodevelopmental disorders. This can reflect the great differences across people with autism and even people with a rare genetic syndrome associated with autism. It isn’t just one gene, it’s the other hundreds of genes that can contribute to susceptibility or resilience to different features of NDDs. One thing this study did not do was overlay environmental factors, which will also significantly influence the variability seen across the different background genetics in these mice.

https://pubmed.ncbi.nlm.nih.gov/36738737/

Posted on

Psychedelics and Symptoms

Podcast: Play in new window | Download

Subscribe: RSS

More and more, psychiatrists are looking to psychedelic medication to help individuals who are resistant to other types of therapies. These include seizures, PTSD and depression. But can they help individuals with autism or ease autism-related problems or improve cognition? Two new studies on cannabis and one on ketamine are summarized in this week’s ASFpodcast. Promising, interesting, but not definitive. It’s a short podcast this week.

https://pubmed.ncbi.nlm.nih.gov/36085294/

https://pubmed.ncbi.nlm.nih.gov/35617670/

https://www.sciencedirect.com/science/article/pii/S2666247722000549?via%3Dihub

Posted on

Let’s talk about poop

Podcast: Play in new window | Download

Subscribe: RSS

This week we discuss the CANDID meeting: Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases, what was shared, what was learned, and where doctors and researchers need to do more. They included the link between the brain-gut connection, challenges in diagnosis, ongoing studies, potential solutions, and what pediatric gastroenterologists need to know about helping families with NDD’s and GI issues. Go to www.candidgi.com to watch the full set of presentations by scientists, families, and advocates.

Posted on

The 2021 Day of Learning Quickie

Podcast: Play in new window | Download

Subscribe: RSS

If you missed this year’s Day of Learning, the videos will be up soon. But if you are a podcast listener, you can listen a 20 minute recap on this week’s podcast. The topics included the effects of the pandemic on family functioning and clinician diagnosis and assessments, lessons learned through the pandemic, the role of the social justice movement in autism, personalized medicine, an explanation of SUDEP, short for sudden unexplained death in epilepsy, and new information on CBD or cannabidiol. It’s not a substitute for watching it live and being able to ask questions of the speakers, but it touches on the main themes.

Posted on

Better ways of subgrouping ASD?

Podcast: Play in new window | Download

Subscribe: RSS

On this week’s podcast, two new studies which explore the concept of subgroups of ASD are described. First, a “genetics-first” approach. Dr. Samuel Chawner at Cardiff University compares autism symptoms in those with copy number variants to those with no known genetic cause and asks: how similar to each other are they and can genetics be a way to subgroup? Second, the UC Davis MIND Institute explores the specificity of a subgroup of ASD based on presence of autoantibodies in mothers. Should there be a mix of the two and how do families interpret these findings? Listen here:

https://pubmed.ncbi.nlm.nih.gov/33384013/

https://pubmed.ncbi.nlm.nih.gov/33483694/

Posted on

Psychiatric decompensation and autism: Two words you never want to hear together

Podcast: Play in new window | Download

Subscribe: RSS

A series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment.  While so far this decompensation as a result of onset of psychiatric illness has only been documented in PMS, families across the spectrum should be aware so they can seek immediate help for their child if they see similar symptoms.

https://www.ncbi.nlm.nih.gov/pubmed/32050889

https://www.ncbi.nlm.nih.gov/pubmed/31879555

https://www.ncbi.nlm.nih.gov/pubmed/32015180

Posted on

Genes genes all in an order, the ones you have, the greater risk of disorder

Podcast: Play in new window | Download

Subscribe: RSS

This week, a special focus on genetics:  what type, where do they come from, what do these genes do and how do they influence risk of a wide array of psychiatric issues including autism.  The results come from the largest study to date of people with autism as well as those with ADHD, bipolar disorder and schizophrenia.  It’s also the largest study of the Female Protective Effect so far.  Even if genetics does not explain everything about ASD, genetics is important and you deserve to know why.  Below is a graphical abstract of what they found:

 

 

https://www.cell.com/action/showPdf?pii=S0092-8674%2819%2931398-4

https://www.ncbi.nlm.nih.gov/pubmed/31835028

 

Posted on

Praise for genetic testing in ASD

Podcast: Play in new window | Download

Subscribe: RSS

Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, it should be.  Autism Science Foundation has organized an initiative called AGENDA (www.alliancegenda.org) to bring together rare diseases associated with ASD.  This is important in moving from discovery to development faster.

https://www.ncbi.nlm.nih.gov/pubmed/31542846

https://www.ncbi.nlm.nih.gov/pubmed/31548702

 

Posted on

Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

Podcast: Play in new window | Download

Subscribe: RSS

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.