Health Care for Autistic Individuals During Transition Age

This week we talk to Dr. Emily Hotez from UCLA, (and a sibling to an autistic adult) who has focused her research on reducing stigma and marginalization, which will ultimately improve research participation to increase scientifically valid options for families. She also works on a nationwide project to improve health outcomes in autistic individuals, from birth through adulthood. Her new project focuses on chronic stress on physical health in adolescents with autism. She explains the focus of her research, the study and why it is important, and other work she is doing to improve health care in those with a diagnosis and their family members. You can read more about her study here: https://uclasharelab.org/

We missed one for the 2024 year end summary: Proof of the importance of genetic testing in autism

It happens every year – this one belonged in the 2024 year end highlights but was published late in the year. Researchers at UCSD, UCLA and CHLA followed families with autism whose genetic test revealed a rare variant. Did it make a difference in care? Understanding? Referrals? If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing

Reference here: https://www.sciencedirect.com/science/article/pii/S1098360024002673

Synaptic Density and Autism, explained

….or at a podcast with at least an attempt at an explanation of what synaptic density is and how it is affected in brains of people with autism. This week we review three convergent lines of evidence – whole brain, brain cell then genes within those brain cells – that show that the autistic brain has a decrease in cell-to-cell communication in multiple brain regions, leading to social communication impairments.

https://www.science.org/doi/pdf/10.1126/science.adh2602?casa_token=bjtbuFi5U88AAAAA:_ffcE-pGCPxh4re24ix_xDgenAS1cAgDHLIMJJQCCG_1LvxaJKrGwEb9LFuMNsTYhvtGqRwro1A1Smc

https://academic.oup.com/cercor/article-abstract/34/13/121/7661138?redirectedFrom=fulltext&login=false#no-access-message

https://pubmed.ncbi.nlm.nih.gov/39367053

Suicide, self-harm and genetics in autism

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

Super, Superb and Sensational Siblings

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

You asked, we answered: what is the connection between the ‘gut’ and the brain?

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.

How you doin’?

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/

Telehealth: does it work?

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

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

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.

Reusing and recycling autism data from brain tissue

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