In support of AFAB

A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that can be implemented in everyday care. To read the article in it’s entirety, click here: https://authors.elsevier.com/c/1i5LV8Mut2Mzvb

Contemplating “syndromic autism”

The words “syndromic autism” have been used to describe individuals with autism who also have a rare genetic mutation. Is it time to change those words to something else? Scientists and clinicians Drs. Jacob Vorstman and Steve Scherer from the University of Toronto share recent data in understanding autism, the role of genetic testing in autism in predicting and treating other conditions that someone with autism may have, and why the words “syndromic autism” may need to be updated to describe a subgroup of autism.

https://pubmed.ncbi.nlm.nih.gov/37330697/

Below is the Figure 1 that Dr. Scherer refers to:

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

Is it co-morbid or co-occurring?

A new paper in Translational Psychiatry this week outlines the reasons why some conditions that occur with autism are actually co-morbid, and not co-occurring. The podcast will break down clues on why sometimes they are co-morbid, and present an argument on why they are important in understanding the vast heterogeneity of autism.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2898

https://www.nature.com/articles/s41398-023-02374-w

The full semantic toolbox referring to autism

Last week a publication (see below) was published as a commentary in the journal Autism Research. It states that researchers, parents, clinicians, educators and the overall community should not be limited in their use of language to describe the broad condition of autism. Some people experience impairments, deficits, and have limitations. Not only is it true, we should be talking about it. This podcast describes the motivation for the paper and the potential consequences of mandating the use terms that may not accurately reflect the diversity of experiences. While some papers have been published with the opposite sentiments, it’s important to understand both sides of this debate. We hope this paper leads to further conversation about this topic.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2876

The meaningful impact of clinical trials

Clinical trials in autism are so incredibly important to families and adults, but sometimes hard to understand. Why? How can it help me or my family? What do I need to do? What do all of these terms mean? For researchers: it’s hard to get families to participate in my study. What can I do to improve the appeal? Caroline Averius and Zachary Williams explain in this podcast about a newly launched two new guidebooks designed to help explain clinical trials, why they are important and what needs to be shared with the community to ensure transparency.

Want to read them? Links below:

https://tinyurl.com/AutismTrialsGuidebook

https://tinyurl.com/AutismTrialsExplainer

Pasta, music pieces and pills

This week, the #ASFpodcast explores different types of interventions for which the core autism features are not necessarily the target, but those that enhance quality of life and provide help for irritability and emotional dysregulation. They include cooking, music therapies and antipsychotic medications. While they may not be effective in core autism features, they may help in other ways.

https://www.jaacap.org/article/S0890-8567(22)00198-8/fulltext

https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD004381.pub4/full

https://www.sciencedirect.com/science/article/abs/pii/S0891422222000890?via%3Dihub

Environmental factors as both causes and interventions?

Environmental exposures, including toxic chemicals, can contribute to the causes of ASD. But how do other environmental factors, like behavioral supports, work in the brain to improve behaviors associated with ASD? For this, you need a broad interpretation of the term “environmental” and an animal model so you can see the mechanism involved. Studies show while environmental factors can contribute, they can also provide modifications in cellular and molecular function which support learning and improved developmental trajectory. Finally, on a different topic, are autistic adults more likely to be involved in a crime compared to other groups? No, they are not, but there are factors which affect the risk of being involved with the criminal justice system, at least in the UK. Read more in the studies below.

https://pubmed.ncbi.nlm.nih.gov/34972219/

https://pubmed.ncbi.nlm.nih.gov/35259351/

https://pubmed.ncbi.nlm.nih.gov/35261275/

Seizures and the after-effects depends on genetics

In recognition of epilepsy awareness month, this week we are interviewing Jill Silverman and Nycole Copping from UC Davis who published a paper looking at the causes and consequences of seizures across 3 different strains of mice, which are identical all but their background genetics.  This is important because new animal models of autism are built upon these different background strains, but very little work has been done to really understand how these different tiny changes in genetic background influences response to an environmental factor.  In this study the environmental factor was a drug that produces seizures.  Two out of the three strains showed seizures and all three showed some behavioral after-effects of the seizure – inducing drug.  Therefore, differences in background genetics influenced the outcome of the mice, an effect that is rarely studied.  The authors point out what these behaviors are, what they mean, and why animal models are important for understanding ASD and seizures.

https://www.ncbi.nlm.nih.gov/pubmed/31698263

#thisisanautismmentalhealthcrisis

Mental health disorders are a serious problem across the lifespan in people with autism.  This has been shown by over 2 decades of research and further proven by a new meta analysis and a systematic review of the last 25 years of data.  What is the result of these mental health disorder co-morbidities?  Many times, these mental health disorders trigger a crisis situation: the police are called, someone goes to the hospital, may end up hospitalized, and family members are traumatized.  This week’s podcast summarizes the evidence and provides recommendations from scientists to help those with autism and possibly prevent crises from occurring.

https://www.ncbi.nlm.nih.gov/pubmed/31447415 

https://www.ncbi.nlm.nih.gov/pubmed/31652032