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Contemplating “syndromic autism”

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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:

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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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This one’s for the girls

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In this week’s podcast, I semi-plagiarize from a recent summary of sex differences in ASD, written by Drs. Meng-Chuan Lai and Peter Szatmari from the University of Toronto.  They delve into why more males are diagnosed with females, and differences in the presentation of those features of ASD that differ between males and females.  These include camouflaging, differences in language style, differences based on behaviors determined by sex, and associated features like anxiety and internalizing behaviors.  Thank you to the authors for putting together the information in a way that makes sense.

https://www.ncbi.nlm.nih.gov/pubmed/31815760

https://www.ncbi.nlm.nih.gov/pubmed/30962869

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The sticky subject of cost effectiveness

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In a perfect world, money would not matter.  But in this world, it does, and a dollar spent on one thing in the clinic by families, society and insurance companies means a dollar not spent somewhere else.  Therefore, studies on cost effectiveness need to be conducted to determine how resources may be best used.  In this podcast, Dr. Tracy Yuen of University of Toronto explains two different analyses which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.  Thank you to Dr. Yuen for explaining the process behind this and these intriguing findings.  You’ll have to listen to find out what they are.

 

https://www.ncbi.nlm.nih.gov/pubmed/29651777

 

https://www.ncbi.nlm.nih.gov/pubmed/29644584