Podcast: Sperm

The title gets you, right? Well, on this week’s podcast we report on a new study that examines epigenetic profiles of sperm and how they related to child outcomes. Do some of the marks on bio-dad’s sperm match to those found in kids with ASD? what about genes related to autism? Also, can parents be good proxies of their child’s intellectual ability? For the most part yes, but sometimes they tend to overestimate this ability. This means they are good, but not perfect reporters. How could they be if the child has a severe intellectual disability?

https://pubmed.ncbi.nlm.nih.gov/37097835/

https://pubmed.ncbi.nlm.nih.gov/37100868/

What do anxiety, prevalence, ketamine, other neurodevelopmental disorders, siblings, genetics, brain imaging and the autistic researcher committee at INSAR all have in common? They were all topics at the last Day of Learning. You can hear a 20 minute summary of the talks on this week’s ASFpodcast.

TikTok is overtaking the internet and many are using this platform to learn about a variety of psychiatric illnesses and psychological problems. But how accurate are these videos in sharing medical information? Could they be causing things like tics? Do they influence individuals to self-diagnose and cause mis-diagnosis? There is a new phenomenon labeled “munchausen by internet”, and while some of the videos might be helpful in raising awareness, others are just spreading lies and causing psychiatric problems. In other words: be careful about TikTok. If a social media platform shares videos that tell you to eat laundry detergent, maybe you should not listen to everything they say. Listen to this week’s podcast here.

https://journals.sagepub.com/doi/full/10.1177/07067437221082854

https://pubmed.ncbi.nlm.nih.gov/35473358/

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. Listen to the podcast here.

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

Like ASD, the prevalence of ADHD has increased significantly in the past 2 decades. A critical analysis examines the factors, and many of them can be applicable to the increase in the rise of autism diagnoses: increased diagnosis in adults, looser diagnostic criteria, and untrained professionals making the diagnoses. While they are not of course the same, listen to some of their arguments and read their comments (link below) to see if you agree with my assessment.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/jclp.23348

Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (ρ = 0.606–0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5%–47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (ρ = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual’s IQ score.

Lay Summary

Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed—including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual’s predicted IQ score).

Autistic individuals are at an increased risk for both sleep disturbances and depression. While studies in the general population and in autistic adults have drawn general links between sleep disturbances and mental health, few studies have examined the extent to which specific sleep problems may be implicated in the extremely high rates of depression among autistic adults. This study aimed to describe the patterns of sleep disturbances in autistic young adults, and their associations with depressive symptoms while controlling for relevant demographic factors. A sample of 304 legally independent adults (age 18-35 years old) with a childhood diagnosis of autism spectrum disorder self-reported on their average sleep behaviors during the past week and depressive symptoms on the Beck Depressive Inventory-II. A significant proportion (86.01%) of autistic young adults experienced at least one of the primary sleep disturbances of interest, including short total sleep time (39.59%), poor sleep efficiency (60.07%), and delayed sleep phase (36.18%). Additionally, lower sleep efficiency and delayed sleep phase were both associated with higher depressive symptoms. The associations between sleep and depressive symptoms identified in our study suggest that sleep treatments may hold potential for ameliorating depressive symptoms in autistic adults who also experience sleep problems. Further research using daily sleep diaries and objective measures of sleep behaviors, as well as longitudinal studies, are needed to understand how changes in sleep may relate to changes in depressive symptoms in autistic adults.

Keywords: delayed phase; depression; sleep; sleep efficiency; young adults.

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 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.