Partially Automated Training for Implementing, Summarizing, and Interpreting Trial-Based Functional Analyses.

Trial-based functional analysis (TBFA) is an accurate and ecologically valid assessment of challenging behavior. Further, there is evidence to suggest that individuals with minimal exposure to behavior analytic assessment methodology (e.g., parents, teachers) can quickly be trained to conduct TBFAs in naturalistic settings (e.g., schools, homes). Notwithstanding, the response effort associated with training development can be prohibitive and may preclude incorporation of TBFA into practice. To address this, we developed a partially automated training package, intended to increase the methodology's accessibility. Using a multiple-probe across skills design, we assessed the degree to which the package increased caregiver accuracy in (a) implementing TBFAs, (b) interpreting TBFA outcomes, and (c) managing TBFA data. Six caregivers completed this study and all demonstrated proficiency following training, first during structured roleplays and again during assessment of their child's actual challenging behavior.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.

Just-in-Time: A Caregiver-Mediated Intervention for Toddlers With Autism.

PURPOSE: We investigated effects of an adaptive telehealth coaching model on caregiver implementation of enhanced milieu teaching (EMT) with newly diagnosed toddlers with autism. METHOD: Three caregiver-child dyads participated in a multiple-baseline-across-behaviors, single-case design. Caregivers were taught EMT via telehealth using the teach-model-coach-review approach. EMT strategies were taught sequentially in four components corresponding to design tiers. Caregivers reported their needs for support and adaptation via weekly surveys. Primary outcomes were measures of caregiver's implementation, including (a) a fidelity checklist for wholistic use of EMT and (b) a percentage of correct use of a subset of key EMT strategies (e.g., matched turns, target talk, expansions, play actions, milieu episodes). Generalization and maintenance of caregiver strategy use in uncoached home activities were measured. The number of different words used by children was measured as a secondary, descriptive outcome. Social validity data were collected through ratings and interviews at the end of the study. RESULTS: There was a functional relation between the intervention and caregiver's implementation of EMT for all dyads. Caregiver's use of EMT strategies often generalized and maintained post-intervention. Child response to intervention was variable. Social validity data indicated that the model was beneficial to caregivers and children. CONCLUSIONS: An adaptive telehealth coaching model is effective for teaching caregivers of toddlers with autism to implement EMT and potentially helps to bridge the gap between diagnosis and comprehensive intervention. Further exploration of the relation between caregiver fidelity and dosage of active ingredients and child spoken language outcomes is needed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25156223.

Comparing Interventions With Speech-Generating Devices and Other Augmentative and Alternative Communication Modes: A Meta-Analysis.

PURPOSE: Optimal augmentative and alternative communication (AAC) systems for children with complex communication needs depend in part on child characteristics, child preferences, and features of the systems themselves. The purpose of this meta-analysis was to describe and synthesize single case design studies comparing young children's acquisition of communication skills with speech-generating devices (SGDs) and other AAC modes. METHOD: A systematic search of published and gray literature was conducted. Data related to study details, rigor, participant characteristics, design information, and outcomes were coded for each study. A random effects multilevel meta-analysis was performed using log response ratios as effect sizes. RESULTS: Nineteen single case experimental design studies with 66 participants (M age = 4.9 years) met inclusion criteria. All but one study featured requesting as the primary dependent variable. Visual analysis and meta-analysis indicated no differences between use of SGDs and picture exchange for children learning to request. Children demonstrated preferences for and learned to request more successfully with SGDs than with manual sign. Children who preferred picture exchange also learned to request more easily with picture exchange than with SGDs. CONCLUSIONS: Young children with disabilities may be able to request equally well with SGDs and picture exchange systems in structured contexts. More research is needed comparing AAC modes with diverse participants, communication functions, linguistic complexity, and learning contexts. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22111181.

Extending functional communication training to multiple language contexts in bilingual learners with challenging behavior.

Little research has highlighted how evidence-based practices (e.g., functional communication training [FCT]) might be adapted for bilingual learners with disabilities. In the current study, we served 2 children with autism spectrum disorder (ASD) and challenging behavior whose parents primarily spoke Spanish at home, and whose teachers primarily spoke English at school. Following traditional FCT (i.e., 1 language only), we systematically replicated the findings of Neely, Graber et al. (2020) by demonstrating that mands in the untrained language (i.e., English) did not emerge when trained mands (i.e., Spanish) contacted extinction in alternative-language contexts. Simultaneously, challenging behavior consistently resurged. After children received explicit training with both languages and were taught to change the language of request when initial attempts were unsuccessful (i.e., "repair the message" training), these same children successfully obtained high rates of reinforcement in both language contexts, and challenging behavior rarely occurred.

Formative applications of ongoing visual inspection for trial-based functional analysis: A proof of concept.

Trial-based functional analysis (TBFA) possesses many strategic advantages which make it an ideal candidate for adoption in applied settings. Notwithstanding, some aspects of the analysis remain underdeveloped, including structured guidelines for interacting with obtained data reliably in formative and summative ways. The purpose of this study was to adapt existing ongoing visual-inspection (OVI) criteria to match the idiosyncrasies of TBFA and then to assess their practical utility in applied settings. Thus, we first drafted OVI criteria appropriate for trial-based FA (i.e., TB-OVI). Then, we trained 5 caregivers to conduct TBFAs of their children's challenging behavior and to react to their data as they obtained it, using the TB-OVI criteria as their guide. Finally, we validated interpretations of TBFA outcomes based on TB-OVI criteria through effective intervention. Across 5 participants and 7 opportunities, function-based interventions successfully eliminated challenging behavior.

The relationship between social experience and subjective well-being in autistic college students: A mixed methods study.

This mixed methods study examined the relationship between the college social experience and subjective well-being in autistic students in the Midwestern United States. An online survey focused on social connectedness, social participation, social support, and subjective well-being. A semi-structured interview discussed transition, supports received, and social participation. Correlations and a hierarchical regression were used to examine the relationship between social experience variables and subjective well-being from the survey. Inductive thematic analysis was used to identify interview themes. Theme counts for students who reported higher and lower subjective well-being were examined. Social connectedness, time spent with friends, and perceived social support were positively correlated with students' subjective well-being, with social connectedness explaining unique variance. Common themes included challenges navigating a new social environment and the importance of family, friends, and professors in providing social support. Students with lower subjective well-being more frequently discussed struggles to make social connections and the trade-off between socializing and succeeding academically, whereas students with higher subjective well-being more frequently described college as providing opportunities to develop meaningful social connections. This study adds new perspectives on the college experience for autistic students and highlights the important role that social connections and support play in their subjective well-being.

Positive Predictors of Life Satisfaction for Autistic College Students and Their Neurotypical Peers.

Background: Positive psychological traits are associated with higher life satisfaction, academic success, and fewer mental health problems in neurotypical (NT) college students. However, it is unclear whether this is similar for autistic students. This study explores college-specific positive traits, including academic satisfaction, self-efficacy, gratitude, and school connectedness, and their relationship with life satisfaction in autistic college students and their NT peers. Method: Autistic (n = 42) and NT (n = 50) college students completed an online survey containing measures of autistic traits, college well-being, and life satisfaction. We explored differences in life satisfaction and college well-being between groups using analysis of variances and explored these relationships based on self-reported autistic traits across groups using correlations. We assessed whether a relationship between college-specific well-being and life satisfaction was moderated by autistic traits using linear regression. Results: Results showed emerging differences in school connectedness such that autistic students were less likely to report feeling connected despite similar scores on other domains of college well-being and life satisfaction; correcting for multiple comparisons this difference was no longer significant. However, autistic traits were significantly related to life satisfaction and school connectedness across the full sample. Differences in school connectedness also explained a significant amount of variance in life satisfaction over and above the influence of autistic traits. The interaction between connectedness and autistic traits was not significant. Conclusions: Results suggests that students who experience higher levels of connection with their university and peers, regardless of the number of autistic traits they endorse, report higher satisfaction with life. Given the importance of social connectedness in college-specific and overall well-being, significant attention should be paid to the protective role of social support systems in addition to academic services when understanding how to support autistic individuals as well as individuals who do not meet diagnostic criteria, but share some similar clinical traits. Lay summary: What was the purpose of this study?: College well-being is related to life satisfaction in neurotypical (NT) college students. However, it is unclear whether this is similar for autistic college students. The purpose of this study was to understand how different aspects of college well-being support life satisfaction in autistic college students compared with their NT peers.What did the researchers do?: We invited both autistic and NT college students to complete an online survey. The survey asked about college well-being and life satisfaction. We looked at similarities and differences in responses between autistic and NT students. We also looked at whether college well-being was related to life satisfaction and whether that depended on the number of autistic traits that individuals selected to describe themselves.What were the results of the study?: We found that there were no group differences between autistic and NT college students in their overall college well-being or life satisfaction. However, there were differences in life satisfaction and one individual aspect of college well-being, school connectedness, based on autistic traits. Students with more autistic traits were less likely to report feeling connected to their university and peers and were less satisfied with life overall. We also found that school connectedness and the number of autistic traits, rather than diagnostic status, were related to life satisfaction. Students who feel more connected to their university and peers, regardless of the number of autistic traits they endorse, report higher satisfaction with life.What do these findings add to what was already known?: While there are many studies of life satisfaction in autistic individuals, most focus on the negative aspects. Our study is the first to look at positive factors, such as college well-being, in autistic students and their NT peers. This is important because both autistic and NT students struggle with academics, social isolation, and mental health in college. However, understanding the positive traits that can help counteract those challenges is important in supporting all students in college. Our findings show that both autistic traits and school connectedness are important, but separate, components for understanding life satisfaction in college students with and without autism.What are the potential weaknesses in the study?: This study only recruited autistic participants from disability resource centers of 4-year colleges, so students who were attending community colleges, private institutions, or who did not disclose their diagnosis to the disability resource centers were not included. As autistic students may be more likely to attend community or private colleges or may not disclose their diagnostic status, our results may not apply to other people. Our sample of students was also small, which limits our ability to find differences and have confidence in the results.How will these findings help autistic adults?: These findings show the importance of social integration for the well-being of neurodivergent and NT college students and support ongoing requests from autistic students for more nonacademic supports in college. Screening for college well-being and improving social integration are potential ways to increase life satisfaction for neurodivergent college students.

"I Just Want Them to See Me As Me": Identity, Community, and Disclosure Practices Among College Students on the Autism Spectrum.

Background: The purpose of this project was to understand how college students on the autism spectrum integrate their diagnosis into their identity, whether they connect with a broader "autism community," and when and why they disclose their diagnosis to other people. Methods: Twenty participants completed semistructured interviews by phone, text message, or email. An inductive approach was used to generate codes, and results were synthesized via thematic analysis, theme counts, comparing and contrasting cases, and examining outliers. Results: Across participants and interview topics, the students in our study expressed a desire to be understood and known genuinely by other people. Interviews revealed that autistic identity is complex and variable across individuals. Most of the students in our study did not feel part of a broader autism community, although several reported that some of their close friends were on the spectrum as well. Our participants rarely disclosed their autism to other people, and this decision was often informed by whether the disclosure would support or inhibit understanding. Conclusions: Results suggest there is a need for neurotypical people to be more accepting, affirming, and empathetic in their interactions with neurodivergent people. In addition, our results suggest that autistic college students may not participate in services that explicitly connect groups of students on the spectrum or require disclosure of their diagnosis. College students with autism should be involved in the development of college supports and services that are consistent with their values and disclosure practices. Lay Summary: What was the purpose of this study?: The purpose of this study was to understand how autistic college students integrate autism into their identity, whether they feel a part of a larger "autism community" and when and why they tell other people that they have autism.What did the researchers do?: The researchers in this study interviewed 20 autistic college students. Interviews included several topics: (1) how autism fits into students' sense of identity, (2) whether they feel connected to an autism community, and (3) whether, when, and why the students tell others they are on the autism spectrum. Researchers read the interview transcripts and identified common themes based on what students said.What were the results of the study?: Overall, the college students in this study wanted to be genuinely understood by others. Some students identified strongly as autistic, whereas others felt it was not part of who they are. Most students in this study did not feel a part of a larger autism community, but several reported having friends on the spectrum. Most participants did not tell others about their autism diagnosis; however, they felt comfortable sharing this information with close friends, romantic partners, and school personnel. In general, decisions about disclosing (or not disclosing) were related to being understood by other people.What do these findings add to what was already known?: This study focused on the experience of autistic college students from their own perspective and discussed relationships between disclosure practices, autistic identity, and connection to autism communities in a way other studies had not done before. This study's findings suggest a need for neurotypical people to be more accepting, affirming, and empathetic toward people with autism. In addition, because college students on the autism spectrum may not use services that require disclosure of their diagnosis, colleges should allow autistic students to be involved in the development of services that meet this population's unique needs.What are potential weaknesses in the study?: This study only recruited participants from disability resource centers of colleges in the midwestern United States, so results may not apply to other people. Students who had not registered with disability services could not be contacted for participation in this study. Furthermore, most participants in this study were white men from families with a high level of education, so we have a limited ability to understand how being autistic might intersect with other facets of identity for members of other marginalized groups.How will these findings help autistic adults?: These findings help the autism community by informing the neurotypical population about the need to be more accepting of the unique perspectives of people on the autism spectrum. Although autism awareness in the United States has increased, our results suggest that awareness alone is not enough. Instead, our goal should be to promote acceptance, inclusion, and empowerment of autistic people.

A mixed-method evaluation of the feasibility and acceptability of a telehealth-based parent-mediated intervention for children with autism spectrum disorder.

Research within the autism spectrum disorder field has called for the use of service delivery models that are able to more efficiently disseminate evidence-based practices into community settings. This study employed telehealth methods in order to deliver an Internet-based, parent training intervention for autism spectrum disorder, ImPACT Online. This study used mixed-methods analysis to create a more thorough understanding of parent experiences likely to influence the adoption and implementation of the program in community settings. Specific research questions included (1) What are parents' perceptions of the online program? (2) How does ImPACT Online compare to other services that parents are accessing for their children? And (3) Do parents' experience in, and perceptions of, the program differ based on whether they received a therapist-assisted version of the program? Results from 28 parents of a child with autism spectrum disorder indicate that parents saw improvements in their child's social communication skills and their own competence during the course of the program, regardless of whether they received therapist assistance. However, qualitative interviews indicate that parents who received therapist assistance were more likely endorse the acceptability and observability of the program. These findings support the potential for Internet-based service delivery to more efficiently disseminate evidence-based parent training interventions for autism spectrum disorder.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials. METHODS: In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins. FINDINGS: 74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14-20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57-1·30). Of the eight patients with a negative interferon score, seven had mutations in RNASEH2B (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (CSF, r=-0·604; serum, r=-0·289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon α production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity. INTERPRETATION: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials. FUNDING: European Union's Seventh Framework Programme; European Research Council.