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.
Podcast: The 2023 Day of Learning Quickie
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
People tend to go towards a “strengths only” or “weaknesses only” approach to describing autism. But even if you think about a single aspect of autistic challenges – social communication – autistics can show both. How can you measure this, and even more importantly, document it to play to someone’s strengths while addressing their impairments at the same time? Special guests Dr. Matthew Lerner and Jacquelyn Gates from Stony Brook University explain how this can be done by clinicians in our latest podcast.
It’s that time! The ASF Year of End Science Wrap-up was published in December, so it’s time to share it on the podcast. We cover everything from parent mediated interventions to genetics and racial and ethnic disparities. You can listen here or read it on the ASF website here: https://autismsciencefoundation.org/autism-research-in-2022/
Stressful life events, among other things, affect autistics more than those who are typically developing. Why? What would cause this vulnerability? New studies suggest that cognitive inflexibility may be the key. Autistic people tend to have problems with cognitive flexibility. As a whole, they show problems with flexible thinking, changing direction and being adaptable to new situations. This is clearly tied to insistence on sameness, a core feature of ASD. Can anything help? Research needs to look at the link between improving cognitive flexibility and mental health, but in the meantime, there are things that can be done to improve skills in this area. Check out a few below, and listen to the podcast here.
https://pubmed.ncbi.nlm.nih.gov/36196666/
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.
Acquisition of pronominal forms by children with autism spectrum disorder (ASD) continues to garner significant attention due to the unusual ways that such children produce and comprehend them. In particular, pronoun reversal errors (e.g., using the 2nd-person pronoun “you” to refer to oneself) have been noted in the speech of children with ASD since the very first report of the disorder. In more recent years, investigations of the signing of deaf children with ASD have documented a different phenomenon: palm orientation reversals, such that signs typically produced with an outward-facing palm are produced with the palm towards the signer, or vice versa. At the same time, true pronoun reversals have yet to be documented in the signing of deaf children on the autism spectrum. These two curious facts have led us to ask if there is evidence that palm orientation reversals in signed languages and pronoun reversals in spoken languages could be surface manifestations of the same underlying differences present in ASD. In this paper we seek to establish whether there is evidence for such an analogy, by comparing the ages at which the two phenomena appear in both typically-developing (TD) children and those with ASD, the frequency and consistency with which they appear, and their relationships with other linguistic and cognitive skills. Data are presented from a fingerspelling task given to a sample of 17 native-signing children with ASD and 24 native-signing TD children. We conclude that there are provocative parallels between pronoun reversals in spoken languages and palm reversals in signed languages, though more research is needed to definitively answer these questions.
Keywords: ASL; autism spectrum disorder; fingerspelling; modality; pronouns.
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).
Abstract
Importance: Presence of developmental delays in autism is well established, yet few studies have characterized variability in developmental milestone attainment in this population.
Objective: To characterize variability in the age at which autistic individuals attain key developmental milestones based on co-occurring intellectual disability (ID), presence of a rare disruptive genetic variant associated with neurodevelopmental disorders (NDD), age at autism diagnosis, and research cohort membership.
Design: The study team harmonized data from 4 cross-sectional autism cohorts: the Autism Genetics Research Exchange (n = 3284; 1997-2015), The Autism Simplex Collection (n = 694; 2008-2011), the Simons Simplex Collection (n = 2753; 2008-2011), and the Simons Foundation Powering Autism Research for Knowledge (n = 10 367; 2016-present). The last sample further included 4145 siblings without an autism diagnosis or ID.
Participants: Convenience sample of 21 243 autistic individuals or their siblings without an autism diagnosis aged 4 to 17 years.
Main outcomes and measures: Parents reported ages at which participants attained key milestones including smiling, sitting upright, crawling, walking, spoon-feeding self, speaking words, speaking phrases, and acquiring bladder and bowel control. A total of 5295 autistic individuals, and their biological parents, were genetically characterized to identify de novo variants in NDD-associated genes. The study team conducted time-to-event analyses to estimate and compare percentiles in time with milestone attainment across autistic individuals, subgroups of autistic individuals, and the sibling sample.
Results: Seventeen thousand ninety-eight autistic individuals (mean age, 9.15 years; 80.8% male) compared with 4145 siblings without autism or ID (mean age, 10.2 years; 50.2% female) showed delays in milestone attainment, with median (IQR) delays ranging from 0.7 (0.3-1.6) to 19.7 (11.4-32.2) months. More severe and more variable delays in autism were associated with the presence of co-occurring ID, carrying an NDD-associated rare genetic variant, and being diagnosed with autism by age 5 years. More severe and more variable delays were also associated with membership in earlier study cohorts, consistent with autism’s diagnostic and ascertainment expansion over the last 30 years.
Conclusions and relevance: As the largest summary to date of developmental milestone attainment in autism, to our knowledge, this study demonstrates substantial developmental variability across different conditions and provides important context for understanding the phenotypic and etiological heterogeneity of autism.
Group social skills interventions (GSSIs) are among the most commonly used treatments for improving social competence in youth with ASD, however, results remain variable. The current study examined predictors of treatment response to an empirically-supported GSSI for youth with ASD delivered in the community (Ntotal=75). Participants completed a computer-based emotion recognition task and their parents completed measures of broad psychopathology, ASD symptomatology, and social skills. We utilized generalized estimating equations in an ANCOVA-of-change framework to account for nesting. Results indicate differential improvements in emotion recognition by sex as well as ADHD-specific improvements in adaptive functioning. Youth with both co-occurring anxiety and ADHD experienced iatrogenic effects, suggesting that SDARI may be most effective for youth with ASD without multiple co-occurring issues. Findings provide important directions for addressing variability in treatment outcomes for youth with ASD.
Keywords: ASD; Community; GSSI; Intervention; Social Skills; Treatment predictors.
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