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Trauma, and or traumatic events affect two-thirds of individuals in the United States (Marsac et al., 2016). Individuals diagnosed with Autism Spectrum Disorder (ASD) are more vulnerable to trauma because of their social communication and emotional regulatory deficits (Kerns, 2015). With no field standard for treating clients who have trauma in the field of ABA, the present study investigated if when a practicing BCBA participates in a Trauma-Informed Care (TIC) training they will gain skill and knowledge of TIC to better treat their clients with trauma. This study utilized a CE on the CuspEmergence website created by Dr. Camile Kolu titled “Introduction to Ethics of Trauma-Informed Behavior Analysis”. Participants completed the entire training, a total of four chapters, and results indicated that through the use of a TIC training BCBA’s were able to demonstrate an increase in both skill and knowledge of TIC.

Autism spectrum disorder (ASD) encompasses a group of heterogeneous disorders that affect approximately 1% of children worldwide. ASD is characterized by two core symptoms, the first being deficits in social communication and interaction, and the second being restrictive and repetitive behaviours. Although environmental and genetic factors are known to contribute to the development of ASD, the etiology remains unknown. Genetic sequencing studies have implicated over 1000 genes with risk variants that are ASD-associated. Recent sequencing studies have highlighted that SCN2A, a gene that encodes the Voltage-Gated Sodium Channel Type II Alpha Subunit habours a large proportion of genetic risk variants for ASD. An emphasis was put on this gene because many of the top genes regulate transcription and cytoskeletal dynamics and not sodium flux aiding in regulating neuron excitability. Initial investigations of complete loss of Scn2a in mice led to perinatal lethality where heterozygous loss exhibited many behavioural phenotypes associated with ASD. Through our collaboration with Dr. Stephen Scherer (Hospital for Sick Children, Toronto) we identified two de novo truncating point variants in SCN2A. In our study, we focused on using human iPSC-derived neurons for disease modelling. We found these two variants caused a reduction in synapses suggesting that neuronal communication may be altered. Furthermore, electrophysiological characterization of the neurons harbouring the differing SCN2A variants showcased that loss-of-function (LoF) variants can produce differential phenotypes based on their location. Beyond the initial ion channel characterization, we wanted to probe whether cellular pathways were altered directly or indirectly by atypical neuronal activity. Proteomics of neurons expressing the more severe variant, p.R607*, found differentially expressed proteins (DEP)s that were upregulated and downregulated. Moreover, these DEPs were enriched and clustered into cellular pathways that were altered, with one of these clusters representing mitochondrial function. We functionally validated these findings in the same neurons and found corroboration between the molecular and cellular data of impaired mitochondria. Lastly, we used Clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 gene editing to generate an isogenic model to validate our findings of the less severe p.G1744* variant. Together, this will aid in the discovery of new variant categorizations and targeted treatments for rescues of atypical neural connectivity or pathways that are altered downstream. / Thesis / Doctor of Philosophy (PhD)

The factors contributing to the severity of the neurodevelopmental disorders autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are largely unknown. Previous studies have indicated immune abnormalities in these disorders, such as increased inflammation and altered immune cell numbers. We, in collaboration with the Province of Ontario Neurodevelopmental Disorder (POND) Network, analyzed markers of intestinal permeability and inflammation in children diagnosed with ASD or ADHD, as well as typically developing controls. Plasma from these participants was used to investigate levels of soluble inflammation, denoted by circulating acute phase proteins, as well as circulating levels of markers of intestinal epithelial damage and bacterial translocation. Peripheral blood mononuclear cells were isolated from these participants and used to construct an immunophenotype of ASD and ADHD, focusing on monocytes and monocyte activation and maturation. These data were then compared with scores of behaviour severity to identify associations between inflammation and behaviour in these disorders. We identified increased soluble inflammation in ASD, indicated by increased circulating C-reactive protein. We associated this inflammation with intestinal permeability, indicated by increased circulating LPS. Classical monocyte frequency was significantly lower in ASD and these monocytes displayed an altered migratory phenotype, indicated by a reduction in CCR2 expression. Furthermore, we have identified potential maladaptive monocyte responses to soluble inflammation in both ASD and ADHD, with altered monocyte phenotypes in response to inflammatory mediators compared to typically developing controls. Finally, we identified that changes in monocyte phenotype are associated with more severe behaviours in both ASD and ADHD. These findings imply that inflammation and immune abnormalities contribute to the severity of neurodevelopmental disorders. / Thesis / Master of Science (MSc)

Social motivation in individuals with ASD is currently derived from the observation of overt behaviors and neurological correlates, from which motivational processes are inferred. Motivation, however, is not the same as behavior, and most theoretical conceptualization of the construct assign primary importance to cognitive processes. Nevertheless, few studies have examined the cognitive processes that may influence goal-directed tasks involved in social interaction. Understanding internalized cognitive processes may distinguish underlying motivations which influence engagement in social behavior. This study aims to assess how beliefs, mindsets, and attitudes can influence one's motivation to engage in social interaction through the development of a novel interview. The Social Motivation Interview (SMI) assesses for internal cognitions as they relate to social motivation by determining levels of social desire, interest, and behaviors in children with ASD. The development of the SMI followed stringent criteria to create a unified measure that was methodologically sound and theoretically informed. SMI development followed guidelines to ensure item pool development was consistent with the proposed construct. Pilot testing suggested feasibility of administration, user satisfaction, and promising psychometric properties. Future examination of the SMI in large-scale field testing is warranted. / Doctor of Philosophy / This study aims to assess how beliefs, mindsets, and attitudes can influence one’s motivation to engage in social interaction through the development of a novel interview. The Social Motivation Interview (SMI) assesses for internal cognitions as they relate to social motivation by determining levels of social desire, interest, and behaviors in children with ASD. The development of the SMI followed stringent criteria to create a unified measure that was methodologically sound and theoretically informed. SMI development followed guidelines to ensure item pool development was consistent with the proposed construct. Pilot testing suggested feasibility of administration, user satisfaction, and promising psychometric properties. Future examination of the SMI in large-scale field testing is warranted.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that presents many challenges for parents and providers while impacting a child's developmental trajectory across several domains, including disruptive behaviors. Unfortunately, due to limited access and affordability of care, especially during the pandemic or other situations that require people to stay at home, in-person services are not always feasible. Rural or underserved communities may face additional barriers, such as geographic isolation and lack of ASD resources. Accessibility of ASD treatment may be expanded through telehealth supports, such as mobile applications. When implementing these supports for autistic children, decreasing child problem behaviors while improving parent stress, knowledge, and competence is crucial. The current study investigated the feasibility and preliminary efficacy of a behavior consultation mobile application, Treks, to improve telehealth support for 26 parents (male = 2) of autistic children (3-13 years). Participants were randomly assigned to a one-session telehealth consultation with 1) the enhancement of the Treks app over the course of one month (TH) or 2) with access to mobile resources comparable to Treks for one month (CC). They were then administered measures at baseline, pre-Treks, and post-Treks to assess changes in parenting stress, knowledge, competence, and child behaviors as well as feasibility metrics. Results indicated that the mobile app was received positively across groups, showing significant improvement in participants enrolled in the TH group from pre- to post-Treks on parenting and child outcomes, in addition to moderate to high satisfaction. Future directions should examine the use of mobile supports to supplement parent training consultations for caregivers of autistic children who present with a range of behavioral difficulties. / Doctor of Philosophy / Autism spectrum disorder (ASD) presents with many challenges for parents and providers. Unfortunately, due to limited access and affordability of care, especially during the pandemic or other situations that require people to stay at home, in-person services are not always feasible. Rural or underserved communities may face additional barriers, such as geographic isolation and lack of ASD resources. Accessibility of ASD treatment can include telehealth (e.g., mobile applications), and should focus on decreasing child problem behaviors while improving parent stress, knowledge, and competence. The current study investigated the feasibility and preliminary efficacy of a behavior consultation mobile application, known as Treks, to improve telehealth support for 26 parents of autistic children (3-13 years). Participants were randomly assigned to a one-session telehealth consultation with access to 1) Treks for one month (TH) or 2) mobile resources comparable to Treks for one month (CC). They were then administered measures at baseline, pre-Treks, and post-Treks to assess changes in parenting stress, knowledge, competence, and child behaviors as well as feasibility. Results indicated that the mobile app was received positively across groups, showing significant improvement in participants enrolled in the TH group from pre- to post-Treks on parenting and child outcomes, in addition to moderate to high satisfaction. Future research should examine the use of mobile apps to supplement parent training for caregivers of autistic children who present with a range of behavioral difficulties.

The impact of birth order on language development has gained significant traction over the years, with contradictory evidence suggesting that lower birth order may hinder language development in typically-developing children (Nafissi and Vosoughi, 2015). However, results also suggest that when considering measures of social communication, second-born typically-developing children demonstrate a significant advantage (Kheirkhah and Cekaite, 2018). These findings have interesting ramifications when considering autistic children, as language impairments are characteristic of the disorder. The current study investigated the impact of birth order, in particular having an older, typically-developing sibling, on vocabulary and social language development in autistic youth. Participants included 1338 first-borns and 1049 second-borns (M age = 9.03 years, SD = 3.57; 86.4% male) with diagnoses of Autistic disorder, Aspergers, or PDD-NOS from the Simons Simplex Collection (Fischbach and Lord, 2010). Results indicated no significant differences in vocabulary or social language between first-borns and second-borns. Hierarchical linear regressions indicated no significant main effect of birth order; however, significant 2-way interactions with birth order x income and birth order x age predicted expressive vocabulary and inappropriate speech. Post-hoc simple slopes suggested that birth order may have a greater impact on language in younger autistic children, and lower-income families. This is the first work to date to investigate birth order and contextual factors on expressive language outcomes in autistic youth. / Doctor of Philosophy / Families provide an important context for important developmental milestones, such as language development (e.g., first words, firs phrases). Many parents and previous literature suggest that occasionally, older siblings can "speak on behalf" of their younger siblings, which reduces the number of opportunities second-born children have to practice important language skills. Previous literature in the field suggests that first-born siblings demonstrate stronger language skills when considering vocabulary, but that second-born siblings demonstrate stronger social language skills. The current dissertation evaluated these birth order findings in a clinical group of children and adolescents with Autism Spectrum Disorder (ASD), as language differences are key features of the disorder. Using a large, representative data set from the Simon Simplex Collection, nearly 3,000 youth with ASD were evaluated on vocabulary and social language skills, grouped by birth order status. Group comparisons suggested that there were no significant differences between first-borns and second-borns in vocabulary and language. When evaluating what factors predicted vocabulary and language, birth order was also not significant. However, some interaction effects emerged between birth order and income, suggesting that in lower-income families, birth order may make a meaningful difference in vocabulary and social language. This is the first work to evaluate the role of siblings on language in ASD, and has important implications for interventions, especially for lower-income families impacted by ASD.