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
The CDC released data from the Autism and Developmental Disabilities Monitoring Network (ADDM) on Thursday. In the past 2 years, the prevalence of autism has increased about 20%. Why? Are there more new cases or is diagnostic practices improving? For 20 years there has been fewer Black and Hispanic kids diagnosed. Is that still the case? Listen to this week’s #ASFpodcast to hear some early thoughts, the CDC will join us for an interview on April 20th:
The media has just called another biological marker a “diagnostic test”, when in this case, it was always intended to be an aid, not a test itself. It involves using baby hair strands to look a variation in metabolism of certain chemical elements across time. Remarkably, it showed similar results in autistic children in Japan, the US and Sweden. It’s not ready to be used as a diagnostic test, so what is it supposed to do? Listen to an interview with the inventor and researcher, Dr. Manish Arora from The Icahn School of Medicine at Mt. Sinai School here.
The full article (open access) can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740182/
Many of the existing tools to identify autism cost money or are not specific for ASD, and they are hidden behind paywalls and are hard to obtain. A group of scientists led by Tom Frazer at John Caroll University put together a 39 questionnaire called the Autism Symptoms Dimensions Questionnaire to be filled out by parents of children. It’s free and open source! But that’s just the first step. The media got the intent wrong, yet again.
It should not replace a full diagnosis. Autism is complex, and even those with genetic forms of autism show heterogeneity in symptoms. They each need comprehensive evaluations. But this is a good start. Listen to the podcast and check out the ASDQ here! It’s open source!
References below:
https://pubmed.ncbi.nlm.nih.gov/36670671/
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/
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.
Children’s ability to share attention with another person (i.e., achieve joint attention) is critical for learning about their environments in general1-3 and supporting language and object word learning in particular.1,4-14 While joint attention (JA) as it pertains to autism spectrum disorder (ASD) is often more narrowly operationalized as arising from eye gaze or explicit pointing cues alone,2,5,10,15-19 recent evidence demonstrates that JA in natural environments can be achieved more broadly through multiple other pathways beyond gaze and gestures.2,4,20-31 Here, we use dual head-mounted eye tracking to examine pathways into and characteristics of JA episodes during free-flowing parent-child toy play, comparing children with ASD to typically developing (TD) children. Moments of JA were defined objectively as both the child’s and parent’s gaze directed to the same object at the same time. Consistent with previous work in TD children,4,21,25,30-32 we found that both TD and ASD children rarely look at their parent’s face in this unstructured free play context. Nevertheless, both groups achieved similarly high rates of JA that far exceeded chance, suggesting the use of alternative pathways into JA. We characterize these alternate pathways, find they occur at similar levels across both groups, and achieve similar ends: namely, for both groups, targets of JA are named more frequently by parents in those moments than non-jointly attended objects. These findings broaden the conceptualization of JA abilities and impairment in ASD and raise questions regarding the mechanistic role of the face-gaze-mediated JA pathway in ASD.
Keywords: autism; development; dyadic interaction; eye tracking; joint attention; naturalistic play; social interaction.
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.
Parent-focused interventions have been designed to provide training and support to caregivers who are essential in achieving positive outcomes for children with intellectual and developmental disabilities (IDD). In 2020, significant crises, including the COVID-19 pandemic and continued racial tensions, profoundly impacted the livelihood of children with IDD and their families. Many ongoing efforts to address disparities among this population were halted temporarily and required further adaptations. Researchers adapted interventions and support to address the disparities impacting children with IDD and their families with limited guidance. We provide a descriptive case analysis of four parent-focused interventions that responded to the global crises to continue serving children with IDD and their families. The four distinct programs were based on applied behavior analysis and naturalistic, developmental-behavioral paradigms that were culturally adapted for families of young children with IDD from diverse cultural and socioeconomic backgrounds. We present the qualitative reports on the challenges and benefits that arose with adapting the four parent-focused interventions for telehealth implementation. We focused specifically on adaptations made in recruitment and retention, instrumentation and measurement, research staff training, and intervention delivery. We synthesize our experience with challenges and solutions in adapting parent-focused interventions for racially/ethnically and socioeconomically diverse children with IDD and their families. We conclude with recommendations for researchers and practitioners on methods for adapting parent-focused interventions to address the significant health disparities that impact racially, ethnically, and socioeconomically diverse children with IDD and their families.
Keywords: COVID-19; autism; intellectual disability; parent-focused interventions; practice; racial/ethnic diversity.
Assessment of autism spectrum disorder (ASD) relies on expert clinician observation and judgment, but objective measurement tools have the potential to provide additional information on ASD symptom severity. Diagnostic evaluations for ASD typically include the autism diagnostic observation schedule (ADOS-2), a semi-structured assessment composed of a series of social presses. The current study examined associations between concurrent objective features of child vocalizations during the ADOS-2 and examiner-rated autism symptom severity. The sample included 66 children (49 male; M = 40 months, SD = 10.58) evaluated in a university-based clinic, 61 of whom received an ASD diagnosis. Research reliable administration of the ADOS-2 provided social affect (SA) and restricted and repetitive behavior (RRB) calibrated severity scores (CSS). Audio was recorded from examiner-worn eyeglasses during the ADOS-2 and child and adult speech were differentiated with LENA SP Hub. PRAAT was used to ascertain acoustic features of the audio signal, specifically the mean fundamental vocal frequency (F0) of LENA-identified child speech-like vocalizations (those with phonemic content), child cry vocalizations, and adult speech. Sphinx-4 was employed to estimate child and adult phonological features indexed by the average consonant and vowel count per vocalization. More than a quarter of the variance in ADOS-2 RRB CSS was predicted by the combination of child phoneme count per vocalization and child vocalization F0. Findings indicate that both acoustic and phonological features of child vocalizations are associated with expert clinician ratings of autism symptom severity. LAY SUMMARY: Determination of the severity of autism spectrum disorder is based in part on expert (but subjective) clinician observations during the ADOS-2. Two characteristics of child vocalizations-a smaller number of speech-like sounds per vocalization and higher pitched vocalizations (including cries)-were associated with greater autism symptom severity. The results suggest that objectively ascertained characteristics of children’s vocalizations capture variance in children’s restricted and repetitive behaviors that are reflected in clinician severity indices.
Keywords: audio processing; objective measurement; vocalization.
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.