Podcast: Nobody ever talks about catatonia

Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

In recognition of September 26th, this week’s podcast episode explores one of the more dangerous issues in autism: wandering. But it’s really not wandering in the traditional sense. Wandering in autism mostly means running off, bolting, deliberately with intent and without permission. Obviously this leads to some very dangerous situations for people on the spectrum. How can it be mitigated or understood? Some behavioral therapies are helpful, but new technologies have allowed for more options to bring back loved ones that have run off unexpectedly. Finally, the community needs to be better aware of possible stressors or triggers that trigger a wandering episode and work together with families to prevent running off. This problem is not caused by one thing, and the community needs multiple solutions to keep kids and adults safe.

www.september26.org

https://pubmed.ncbi.nlm.nih.gov/37492814/

https://pubmed.ncbi.nlm.nih.gov/32576789/

Background: Fidelity, or the degree to which an intervention is implemented as designed, is essential for effective implementation. There has been a growing emphasis on assessing fidelity of evidence-based practices for autistic children in schools. Fidelity measurement should be multidimensional and focus on core intervention components and assess their link with program outcomes. This study evaluated the relation between intervention fidelity ratings from multiple sources, tested the relation between fidelity ratings and child outcomes, and determined the relations between core intervention components and child outcomes in a study of an evidence-based psychosocial intervention designed to promote inclusion of autistic children at school, Remaking Recess.

Method: This study extends from a larger randomized controlled trial examining the effect of implementation support on Remaking Recess fidelity and child outcomes. Schools were randomized to receive the intervention or the intervention plus implementation support. Observers, intervention coaches, and school personnel completed fidelity measures to rate completion and quality of intervention delivery. A measure of peer engagement served as the child outcome. Pearson correlation coefficients were calculated to determine concordance between raters. Two sets of hierarchical linear models were conducted using fidelity indices as predictors of peer engagement.

Results: Coach- and self-rated completion and quality scores, observer- and self-rated quality scores, and observer- and coach-rated quality fidelity scores were significantly correlated. Higher observer-rated completion and quality fidelity scores were predictors of higher peer engagement scores. No single intervention component emerged as a significant predictor of peer engagement.

Conclusions: This study demonstrates the importance of using a multidimensional approach for measuring fidelity, testing the link between fidelity and child outcomes, and examining how core intervention components may be associated with child outcomes. Future research should clarify how to improve multi-informant reports to provide “good enough” ratings of fidelity that provide meaningful information about outcomes in community settings.

Plain language summary: Fidelity is defined as how closely an intervention is administered in the way the creators intended. Fidelity is important because it allows researchers to determine what exactly is leading to changes. In recent years, there has been an interest in examining fidelity of interventions for autistic children who receive services in school. This study looked at the relationship between fidelity ratings from multiple individuals, the relationship between fidelity and child outcomes, and the relationship between individual intervention component and child changes in a study of Remaking Recess, an intervention for autistic children at school. Schools were randomly selected to receive the intervention only or the intervention plus implementation support from the research team. Observers, intervention coaches, and individuals delivering the intervention themselves completed fidelity measures. Child engagement with peers was measured before and after the intervention. Several measures of self-, coach-, and observer-report fidelity were associated with each other. Higher observer-reported fidelity was associated with higher child peer engagement scores. No single intervention step was linked to child peer engagement and both treatment groups had similar outcomes in terms of fidelity. This study shows the importance of having multiple raters assess different parts of intervention fidelity, looking at the link between fidelity and child outcomes, and seeing how individual intervention steps may be related to outcomes. Future research should aim to find out which types of fidelity ratings are “good enough” to lead to positive changes following treatment so that those aspects can be used and targeted in the future.

Keywords: autism spectrum disorder; fidelity; implementation; school-based; social engagement intervention.

Objectives: Autism spectrum disorder (autism) is a heterogeneous condition that poses challenges in describing the needs of individuals with autism and making prognoses about future outcomes. We applied a newly proposed definition of profound autism to surveillance data to estimate the percentage of children with autism who have profound autism and describe their sociodemographic and clinical characteristics.

Methods: We analyzed population-based surveillance data from the Autism and Developmental Disabilities Monitoring Network for 20 135 children aged 8 years with autism during 2000-2016. Children were classified as having profound autism if they were nonverbal, were minimally verbal, or had an intelligence quotient <50.

Results: The percentage of 8-year-old children with profound autism among those with autism was 26.7%. Compared with children with non-profound autism, children with profound autism were more likely to be female, from racial and ethnic minority groups, of low socioeconomic status, born preterm or with low birth weight; have self-injurious behaviors; have seizure disorders; and have lower adaptive scores. In 2016, the prevalence of profound autism was 4.6 per 1000 8-year-olds. The prevalence ratio (PR) of profound autism was higher among non-Hispanic Asian/Native Hawaiian/Other Pacific Islander (PR = 1.55; 95 CI, 1.38-1.73), non-Hispanic Black (PR = 1.76; 95% CI, 1.67-1.86), and Hispanic (PR = 1.50; 95% CI, 0.88-1.26) children than among non-Hispanic White children.

Conclusions: As the population of children with autism continues to change, describing and quantifying the population with profound autism is important for planning. Policies and programs could consider the needs of people with profound autism across the life span to ensure their needs are met.

Keywords: autism; public health; surveillance.

Best practice for the assessment of autism spectrum disorder (ASD) symptom severity relies on clinician ratings of the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2), but the association of these ratings with objective measures of children’s social gaze and smiling is unknown. Sixty-six preschool-age children (49 boys, M = 39.97 months, SD = 10.58) with suspected ASD (61 confirmed ASD) were administered the ADOS-2 and provided social affect calibrated severity scores (SA CSS). Children’s social gaze and smiling during the ADOS-2, captured with a camera contained in eyeglasses worn by the examiner and parent, were obtained via a computer vision processing pipeline. Children who gazed more at their parents (p = .04) and whose gaze at their parents involved more smiling (p = .02) received lower social affect severity scores, indicating fewer social affect symptoms, adjusted R2 = .15, p = .003.

Keywords: Autism diagnostic observation schedule; Autism spectrum disorder; Objective measurement; Smiling; Social gaze.

Everyone needed support during the pandemic, but families affected by autism needed special support. This included siblings. Researchers at Massachusetts General Hospital tried out an intervention around stress and anxiety reduction in siblings in 2020. Not only was it liked, it worked. It didn’t completely eliminate stress and anxiety, nothing would, but it did help siblings manage a little better. Can it work outside the pandemic? There are certainly other situations where siblings could use a little more support – listen to this week’s podcast to learn more.

https://pubmed.ncbi.nlm.nih.gov/36460184/

https://link.springer.com/article/10.1007/s10803-022-05500-7

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987#aur2987-bib-0032

Two recent papers suggest that a childhood diagnosis of ASD is important for adulthood quality of life and well being. But another one points out that it isn’t the only thing, or even the primary factor, involved in improved quality of life and well-being as autistic adults age. There are others, like comorbid mental health problems, demographic factors like gender and current age. These studies were conducted by autistic researchers and did an amazing thing – one tried to replicate the other. The media got the point of these findings wrong (shocker) so today’s #ASFpodcast explains what they mean.

https://journals.sagepub.com/doi/pdf/10.1177/13623613231173056

https://journals.sagepub.com/doi/pdf/10.1177/13623613221086700?casa_token=Pt_EcbUzuDQAAAAA:_qVIXsQGRxWgoSOp4-kpLdohAr6CiB5lFYbhx8kK5omusM4rfHTjeyuzSLbxPh1OFftAc4j8BkuzCA

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296439/

The disparity in diagnosis between Black kids and white kids is narrowing, but not by luck or coincidence. Based on previous research, clinicians are altering their professional training and their outreach to make sure more Black families are diagnosed and receive interventions. On today’s podcast, we highlight a recent study that focused on different ways to lower the age of diagnosis and improve access to early intervention in Black families. This intervention improved cognitive outcomes in Black kids.

https://pubmed.ncbi.nlm.nih.gov/36443922/

https://pubmed.ncbi.nlm.nih.gov/37196781/

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/

Eye tracking has long been used to characterize differences in social attention between autistic and non-autistic children, but recent work has shown that these patterns may vary widely according to the biological sex of the participants and the social complexity and gender-typicality of the eye tracking stimuli (e.g., barbies vs. transformers). To better understand effects of sex, social complexity, and object gender-typicality on social and non-social gaze behavior in autism, we compared the visual attention patterns of 67 autistic (ASD) and non-autistic (NA) males (M) and females (F) (ASD M = 21; ASD F = 18; NA M = 14; NA F = 14) across four eye tracking paradigms varying in social complexity and object gender-typicality. We found consistency across paradigms in terms of overall attention and attention to social stimuli, but attention to objects varied when paradigms considered gender in their stimulus design. Children attended more to gendered objects, particularly when the gender-typicality of the object matched their assigned sex. These results demonstrate that visual social attention in autism is affected by interactions between a child’s biological sex, social scene complexity, and object gender-typicality and have broad implications for the design and interpretation of eye tracking studies.

Keywords: attention; eye movement; gender/female ASD; sex differences.

Background: Fragile X syndrome (FXS) is the most prevalent form of inherited intellectual disability and is commonly associated with autism. Previous studies have linked the structural and functional alterations in FXS with impaired sensory processing and sensory hypersensitivity, which may hinder the early development of cognitive functions such as language comprehension. In this study, we compared the P1 response of the auditory evoked potential and its habituation to repeated auditory stimuli in male children (2-7 years old) with and without FXS, and examined their association with clinical measures in these two groups.

Methods: We collected high-density electroencephalography (EEG) data in an auditory oddball paradigm from 12 male children with FXS and 11 age- and sex-matched typically developing (TD) children. After standardized EEG pre-processing, we conducted a spatial principal component (PC) analysis and identified two major PCs-a frontal PC and a temporal PC. Within each PC, we compared the P1 amplitude and inter-trial phase coherence (ITPC) between the two groups, and performed a series of linear regression analysis to study the association between these EEG measures and several clinical measures, including assessment scores for language abilities, non-verbal skills, and sensory hypersensitivity.

Results: At the temporal PC, both early and late standard stimuli evoked a larger P1 response in FXS compared to TD participants. For temporal ITPC, the TD group showed greater habituation than the FXS group. However, neither group showed significant habituation of the frontal or temporal P1 response. Despite lack of habituation, exploratory analysis of brain-behavior associations observed that within the FXS group, reduced frontal P1 response to late standard stimuli, and increased frontal P1 habituation were both associated with better language scores.

Conclusion: We identified P1 amplitude and ITPC in the temporal region as a contrasting EEG phenotype between the FXS and the TD groups. However, only frontal P1 response and habituation were associated with language measures. Larger longitudinal studies are required to determine whether these EEG measures could be used as biomarkers for language development in patients with FXS.

Keywords: EEG; ERP; Fragile X syndrome; autism; language; neural habituation; phase coherence.