The female protective effect against autism spectrum disorder

Autism Spectrum Disorder (ASD) is diagnosed three to four times more frequently in males than in females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences in common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings of female ASD cases (n = 1,707) had higher rates of ASD than siblings of male ASD cases (n = 6,270; p < 1.0 × 10−10). In the Simons Simplex and SPARK collections, mothers of ASD cases (n = 7,436) carried more polygenic risk for ASD than fathers of ASD cases (n = 5,926; 0.08 polygenic risk score [PRS] SD; p = 7.0 × 10−7). Further, male unaffected siblings under-inherited polygenic risk (n = 1,519; p = 0.03). Using both epidemiologic and genetic approaches, our findings strongly support an FPE against ASD’s common inherited influences.

This week’s #ASFpodcast highlights a few articles from the Journal of Autism and Developmental Disorders this week which examined the tolerability and efficacy of online diagnostic procedures and interventions, from the perspective of both parents and clinicians. They seem to work about the same, although there were some caveats. For many reasons, online and Telehealth options are here to stay, and more needs to be done to improve their accuracy, acceptability, feasibility and effectiveness. These early studies are promising though, and lead the way to even more improvements to help make them a viable option for families in the future. Listen to the podcast here.

https://link.springer.com/article/10.1007/s10803-022-05435-z

https://link.springer.com/article/10.1007/s10803-022-05576-1

https://link.springer.com/article/10.1007/s10803-022-05554-7

https://link.springer.com/article/10.1007/s10803-022-05580-5

https://link.springer.com/article/10.1007/s10803-022-05607-x

This week’s podcast explores the question about whether or not it is beneficial or just confusing to teach your child with autism multiple languages, or suppress the use of more than one language at home. Turns out, being bilingual helps with executive functioning (or those with preserved executive functioning can be bilingual), language, and provides benefits in verbal IQ depending on SES. In other words, it’s not harmful, it can be helpful, and those who choose to speak two languages at home should continue to do so if they feel that it is enhancing their child’s learning. Listen to the podcast here and find more information in the links below:

https://pubmed.ncbi.nlm.nih.gov/35102760/

https://pubmed.ncbi.nlm.nih.gov/34813032/

https://pubmed.ncbi.nlm.nih.gov/36222993/

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. You can listen to it here.

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

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

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

Fieri said “Cooking with kids is not just about ingredients, recipes, and cooking. It’s about harnessing imagination, empowerment, and creativity.” This week’s podcast produced by ASF intern Mia Kotikovski from Stony Brook University explores how cooking can be not just fun for autistic individuals, but how it can build healthy habits in everyone. She discusses the scientific literature on why cooking improves eating habits and builds confidence. Listen to the podcast here.

Anxiety is common in people with autism – but is is different than other types of anxiety or similar? Is it part of the autism phenotype? When does it start and what triggers it? Two new studies which use a longitudinal design and examine the links between autism features, anxiety symptoms and brain development are summarized this week. It shows that the amygdala is important, that some features of anxiety are core to ASD and some are separate, and it is related to autism features like insistence on sameness. This has implications for how anxiety is diagnosed and treated in those with ASD. Listen to the podcast here.

https://pubmed.ncbi.nlm.nih.gov/35871413/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9116934/?report=printable

We’ve heard a lot about social robots – do they help? One or two studies are not going to answer this, but a systematic review and meta analysis will! It turns out when you combined all the data, they do help in social abilities, but not other areas. This is how technology can help those with autism, especially technology which can be adapted to address the heterogeneity across the spectrum. And what about more subtle changes in the environment like light, sound, the built environment in classrooms and the home? Are there things that can be done that should be taken into account when these things are being built or modified? Again, a review article can help decipher all of the little studies that have been published over the year. Listen here for specific recommendations for builders, architects, and even you as you make your home more autism friendly.

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269800

https://journals.sagepub.com/doi/10.1177/13623613221102753?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

https://lukerosen212.medium.com/the-supreme-courts-decision-impact-on-the-rare-genetic-disease-community-f9ac22bd1411

This week is a pharmacopeia of inflation. The #ASFpodcast talks debilitating gastrointestinal issues and new efforts to understand and treat them (including the CANDID meeting www.candidgi.com), a new method to understand adverse events in those that cannot report them on their own, and new news on Celexa, which is used to treat anxiety. Listen to the podcast here.

www.candidgi.com

https://www.theautismstudy.com

https://pubmed.ncbi.nlm.nih.gov/35165451/

https://pubmed.ncbi.nlm.nih.gov/35501967/

https://pubmed.ncbi.nlm.nih.gov/34652075/

At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. This is just a small subset of everything that was presented at INSAR 2022 and I hope that if you want to see more, you advocate to have the presentations posted online or even have the program book made available publicly. In the meantime, enjoy the 30 minute summary here.

www.autism-insar.org

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. Listen to the podcast here.

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

This year’s first podcast dedicated to COVID issues explores both caregiver and clinician satisfaction with telehealth. New studies explore this satisfaction with assessment as well as psychiatric interventions. Also, as a follow up to the INSAR presentations on resiliency in mental health, a new study from Canada explains what may be at the core of this resiliency. Finally – why are some autistic people still not getting vaccinated? Listen to the podcast here.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126276/

https://pubmed.ncbi.nlm.nih.gov/35579789/

https://pubmed.ncbi.nlm.nih.gov/35575840/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088649/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023320/

Children with autism spectrum disorder (ASD) are at elevated risk of suicidal ideation, particularly those with comorbid anxiety disorders and/or obsessive-compulsive disorder (OCD). We investigated the risk factors associated with suicidal ideation in 166 children with ASD and comorbid anxiety disorders/OCD, and the unique contribution of externalizing behaviors. Suicidal ideation was reported in the child sample by 13% of parents. Controlling for child age, sex, and IQ, perceived loneliness positively predicted the likelihood of suicidal ideation. In addition, externalizing behaviors positively predicted suicidal ideation, controlling for all other factors. Reliance on parental report to detect suicidal ideation in youth with ASD is a limitation of this study. Nonetheless, these findings highlight the importance of assessing and addressing suicidal ideation in children with ASD and comorbid anxiety disorders/OCD, and more importantly in those with elevated externalizing behaviors and perceptions of loneliness.

Keywords: ASD; Anxiety; Externalizing behaviors; OCD; Suicidal thoughts.