Thesis (Ed.D.)--Boston University / Through written survey and recorded interviews a snapshot in time was taken on how theorists of five promising approaches- Applied Behavioral Analysis, TEACCH, Daily Life Therapy, Miller Method, and DIR- think about children on the autism spectrum. Some of the findings include agreement on the need for a better definition of autism, the need for treatment-based research for developing and maintaining best practice, that the diversity of needs of people on the autism spectrum requires a wide range of approaches, and a general sense that people with autism have many valued strengths to contribute to society. Other findings include extensive use of non standardized assessments along with judicious employment of standardized instruments. Finally, all the theorists - some of home have spent more than 4 decades helping children with autism - all feel that the work they have done can be useful to youth with other challenges as well.

Due to the nature of the complexity of the diagnosis of autism spectrum disorder (ASD), elementary-aged students with this disorder require a holistic, team-based approach to education in the school setting. A review of current literature has found that while interprofessional collaborative practice (ICP) in the school setting is effective and often recommended for students with ASD, a variety of barriers have resulted in fragmented care. Additionally, there is limited research supporting a cohesive model of interprofessional collaborative practive when working with students with ASD in the elementary school setting. This problem is likely leading to decreased outcomes for elementary-aged students with ASD. Occupational therapy practitioners’ role as holistic, client-centered practitioners creates an ability to bridge the gaps between the often-fragmented goals of the members of an interprofessional team. Interprofessional collaboration in the school setting between occupational therapy practitioners, physical therapy practitioners, psychologists, speech and language pathologists, social workers, and teachers is crucial to addressing the multi-faceted needs of children with ASD and providing the highest level of service in accordance with the Occupational Therapy Practice Framework: Domain and Process, Fourth Edition. This doctoral project aims to add to the limited body of research in this area in order to fulfill this role. The TOPPSS Model of Interprofessional Collaboration is an evidence-based school-year long plan of structured collaboration between staff members working with students with ASD in an elementary school setting through a professional development workshop. The workshop will educate participants on the TOPPSS Model of Interprofessional Collaboration. The participants that are being targeted for this workshop include elementary school-based teachers (T), occupational therapy practitioners (O), physical therapy practitioners (P), psychologists (P), speech-language pathologists (S), and social workers (S). The overall aim of this program is to improve interprofessional collaborative practice (ICP) among the participants in order to increase positive outcomes for students with ASD.

Thesis advisor: Stefano Anzellotti / Autism Spectrum Disorder (ASD) displays uniquely in every individual, creating disparities in symptom severity, genetics, and functional connectivity. Examining the relationship between genetic and functional connectivity variability could help to better understand individual differences in ASD. From this, improved diagnosis, treatment, and understanding of ASD can be developed. To resolve individual differences in symptom severity and presentation, I generated matrices of subject functional connectivity data and compared this to gene expression maps. Multivariate regression analysis was performed on the data to anticipate ASD symptoms from these correlation matrices and to establish which genes have the largest impact on these predictions. The ANOVAs ran on the data were not significant, but there were several genes implicated in specific aspects of ASD. STX1A, MVP, CDKL5, and RABEP2 were the only genes correlated across more than one subtype of ASD. These results pave the way for future research to investigate the roles of these genes in a larger size of ASD subjects. / Thesis (BS) — Boston College, 2023. / Submitted to: Boston College. College of Arts and Sciences. / Discipline: Departmental Honors. / Discipline: Psychology and Neuroscience.

No description available.

No description available.

Autism spectrum disorder (ASD) encompasses a broad range of neurodevelopmental disorders, with two core symptoms: deficits in social communication, and restrictive interests and repetitive behaviors. Genetics is thought to play a large role in ASD and currently there are hundreds of associated genes. We first studied the thousand and one amino acid kinase gene (TAOK2), which plays an important role in neurodevelopment. We found that loss of TAOK2 causes deficits in neuron development and activity, leading to morphological changes in various mouse brain regions and ASD-related behaviors. We studied the impact of de novo mutations identified in TAOK2, which caused aberrant neuron dendritic arborization and formation of synapses. To elucidate how TAOK2 regulates neuron development we used a proximity-labeling proteomics technique (BioID) to identify its protein-protein interaction (PPI) network. We applied this same methodology to a total of 41 ASD-risk genes and observed multiple convergent biological processes, including the less-studied mitochondrial and metabolic pathways. ASD-risk genes, including TAOK2, associated with mitochondrial proteins were found to have altered cellular respiration. The shared ASD-risk gene PPI network enriched for other ASD-risk genes and was used to group genes based on their shared PPI networks. These gene groups showed correlation between the clinical behavior scores of individuals that had mutations within the distinct gene groups. Lastly, we identified changes in the PPI networks of multiple ASD-risk genes through BioID, which we validated with various functional assays. In summary, we developed a proximity-labeling proteomics method that identified multiple convergent biological pathways associated with ASD. Studying the function of TAOK2 revealed multiple disease-relevant pathologies associated with the disorder, however proximity labeling has the potential to categorize multiple ASD-risk genes and elucidate their shared signaling pathways, which together, can advance the development of robust treatments for ASD. / Thesis / Doctor of Philosophy (PhD) / Autism spectrum disorder (ASD) is a group of brain disorders that affect more than 1% of children. Genetic variants are thought to cause ASD pathology, however there are currently hundreds of genes that have not been studied. We studied how disruption of one of those genes, TAOK2, alters brain development in mice and identified TAOK2 variants in multiple children with ASD. We then used BioID to find the shared disease-related mechanisms between multiple ASD-risk genes, and found that mitochondrial function and activity were connected to many of these genes. We showed that BioID can be used to study the effect of mutations in multiple ASD-risk genes simultaneously. Last, we could group children with ASD with similar behavior test scores based on the shared mechanisms of ASD-risk genes. Together our findings could be used to advance the development of robust treatments or new diagnostic tools for ASD.

The comorbidity of anxiety disorders and autism spectrum disorder (ASD) is well-established. Although research on the comorbidity of anxiety disorders in adults with ASD is limited, preliminary studies suggest rates of comorbidity comparable to those found in children and adolescents. Little is known about the manifestation of anxiety symptoms in adults with ASD or the potential for these symptoms to impact quality of life in this population. The current study aimed to examine the role of anxiety symptoms in quality of life among young adults with ASD. We collected online survey data from a large sample (N = 224) of parents of young adults with ASD and a subsample of adults with ASD. Parent- and self-report data suggested a substantial proportion of adults with ASD exceeded clinical cutoffs for anxiety symptoms. Anxiety moderated the relationship between ASD severity and the social relations domain of quality of life. Anxiety symptoms did not, however, significantly moderate the effect on the psychological domain. Exploratory analyses also demonstrated significant indirect effects of ASD severity on social and psychological quality of life through anxiety symptoms. Results provide preliminary evidence that anxiety symptoms contribute to quality of life in adults with ASD independently of core ASD symptomatology. Future research should aim to further characterize anxiety symptoms among adults with ASD, as well as evaluate the impact of anxiety symptoms on quality of life and overall outcome through the use of prospective longitudinal studies. / Master of Science

Autism Spectrum Disorders (ASD) are an urgent health concern as new reports indicate approximately 1 in 110 children are affected by ASD (Centers for Disease Control and Prevention, 2009). Although children with ASD struggle with social interactions, quantitative meta-analyses have revealed that traditional social skill interventions only produce minimal effects (Bellini, Peters, Benner, & Hopf, 2007). Due to these minimal effects, this study diverged from the common understanding of social skill deficits and introduced an autonomic nervous system circuit as one root of social behavior problems. Children with ASD show a "fight-flight" (i.e., sympathetic) state at baseline and to unfamiliar individuals (e.g., Bal et al., 2010). Research indicates, however, that music has the ability to calm cardiovascular functioning (Iwanaga, Kobayashi, & Kawasaki, 2005) and improve social behaviors in children with ASD (Whipple, 2004). This study recruited participants (N = 23) between 4-7 years old with a previously diagnosed ASD. Each participant was assigned to a Music group, n = 11, or an Audiobook group, n = 12. The 90-minute experimental session consisted of a receptive vocabulary assessment and psychophysiological monitoring during a baseline video, social engagement task, listening period, and a recovery video. A soothed autonomic state was measured by increased high frequency heart rate variability and decreased heart rate. Results indicated a significant soothing effect for the Music group. Moreover, the Music group evidenced a significant increase in social attention (e.g., joint attention and sharing emotions) relative to the Audiobook group. Mediation analyses may reveal partial mediation for the soothed autonomic state on the relationship between group and social attention improvements. Thus, these results suggest that social skill interventions may not be targeting a core element of social deficits (i.e., over-aroused autonomic state). / Master of Science

Synchrony is a multi-faceted construct, defined here as the mutual warmth and responsiveness between a mother and her child. As children with Autism Spectrum Disorders (ASD) struggle to navigate various aspects of social life, we expected that impairments in synchrony would be seen, but that mothers would show adaptability. Twenty-five children (10 met ASD criteria on a gold standard autism assessment) completed a brief cognitive assessment and nine semi-structured play tasks with their mother, adapted from the Marschak Interaction Method. Synchrony was not found to moderate the relationship between ASD severity and externalizing behaviors, as hypothesized. ASD severity did predict externalizing behaviors. While children in the ASD group were more negative during the observed play tasks, there were no group differences on mother or dyad scores. Despite power limitations, our findings suggest important future directions for examination of mother and dyad mechanisms that better explain these differences. / Master of Science

This study has explored how couples raising children on the autism spectrum negotiate intimacy in their marriages/committed partnerships as well as what contextual factors influence these process and how they change over time. Twelve couples currently raising children on the autism spectrum were interviewed conjointly regarding their experiences of intimacy negotiation. A methodological approached based on constructivist grounded theory was used to analyze the data collected from these couples. The results of this study indicate that intimacy negotiation for couples raising children on the autism spectrum is an interactive process in which both partners must work together to make several key cognitive and relational shifts. Couples were either aided or hindered in making these shifts by the degree to which contextual and environmental factors were experienced as resources or roadblocks. The result of the degree to which couples raising children with ASDs navigate the necessary cognitive and relational shifts, also taking into account the influence of any contextual factors on these processes, was found to be a couple's experience of intimacy. However, this study also found that intimacy was not a fixed point at which a couple one day arrived, but was instead an iterative process taking place over time and requiring work to develop and maintain. / Ph. D.