Even in cases of autism with a known genetic mutation, there can be differences in the presentation of symptoms, which is also known as “phenotypic heterogeneity.” One way to measure this variability across individuals with autism is by examining brainwave patterns. Earlier research in people with Fragile X Syndrome has shown that individuals have different patterns of brainwave activity, which may predict their response to treatments. Building on this research, the fellow will collect cells from individuals with Fragile X Syndrome and turn them into neurons. These cells will then be tested for their own electrical activity, validating the brainwave data collected earlier. This study will then take the research a step further by examining if and how different therapeutics affect these neurons in different ways, leading to more targeted therapeutics.
Developing Therapeutics for Autism and Fragile X Syndrome Based on Divergent Brainwave Patterns
Irritability and aggression are dangerous behaviors that can lead to harm and injury and are overlooked in research. Unfortunately there are only two FDA medications approved to treat them in autism. The drugs have many side effects, and there are efforts to improve these treatments and minimize side effects by lowering the dose with adjunct therapies that enhance the efficacy of the drug. So far, there are a few promising leads, but nothing that is ready for the clinic. How do scientists make the move from an interesting discovery in a lab to testing the safety and efficacy of a drug? Through animal models or model systems that examine different phenotypes in an animal and test medications on outcomes like aggression. Mice are not people, but they are necessary to ensure safe and effective treatments are translated into practice. Learn more in this week’s podcast episode.
Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder (1, 2) and it affects 1 out of 36 children (3). Due to its heterogeneity, the causes of ASD are still poorly understood and scientific research is now focused on the early identification of bio-behavioral markers to anticipate the age of diagnosis (4). Making an early diagnosis has positive implications in terms of implementation of timely evidence-based interventions and, consequently, better outcomes (5). In the complex arena of interventions for ASD, some of them are evidence-based, while others (a) are proposed without scientific basis (6), or (b) they have not yet completed the necessary steps to move from basic research to large-scale clinical application but are transferred to clinical practice. Regarding option b, in recent years, we have witnessed a worrying increase in institutes that proposing to families to treat ASD with stem cells from various sources, including those obtained from cord blood (7). The alarming aspect of this potential therapeutic proposal is the promise of significant clinical improvements in children who undergo this treatment. These institutes, which are often located in countries with low medical standards, are not proposing a research trial but the use of stem cells as a therapeutic option already validated by basic research. However, to date, can we say that the use of stem cells is an evidence-based treatment? The answer is no, and we will try in the following lines to explain the reasons for this negative answer.
This week’s podcast episode re-explores a question about a potential therapy for autism – minocycline. Minocycline is an antibiotic used to treat a number of different infections and some anecdotal reports have linked it to an improvement of autism. This has led to some experimental trials on minocycline, with inconclusive results. This week, a multisite study showed NO effects of minocycline for autism features or outcomes, but that doesn’t mean it is NOT a great antibiotic. If you need it, use it! Also, do autistic people spend too much time on their screens? Well, they seem to spend more time on devices and screens, but it might all be bad. Listen to the podcast for more information on this.
https://link.springer.com/article/10.1007/s10803-023-06132-1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10709772/?report=printable
A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that can be implemented in everyday care. Listen to this week’s podcast episode to learn more, or read the article in its entirety at the link below.
Everyone who has looked for support for autism spectrum disorder is familiar with waitlists. Waitlists for evaluation, diagnosis, intervention, consultations and referrals. These waitlists prevent important opportunities for services and many groups developing technologies, policies, and approaches to reduce the waitlists or work around them. On this week’s podcast, we talk to Dr. Sharief Taraman from Cognoa to hear about their recent study on the scope of the problem on waitlists, what causes them, and how digital therapeutics may help them.
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/
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
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.
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.
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/
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.