Autism spectrum condition (ASC) is a lifelong developmental condition. Along with restricted interests and deficits in social imagination, people with ASC have difficulty understanding the social world. Evidence suggests that ASC individuals have difficulty understanding the emotional expressions of others, particularly when these expressions have negative valence. It is suggested that ASC is not a discrete phenomenon. Instead research has shown that traits associated with autism are seen in varying levels throughout the general population. It is believed that ASC is a spectrum, with those who have the most difficulty obtaining a diagnosis. The traits of autism present in the general population are seen to be qualitatively similar to those seen in ASC. It is therefore suggested that the ASC can be explored and further understood by assessing people in the Wider Autism Spectrum (WAS) of ASC-traits who do not hold a diagnosis. This research contributes to the understanding of the WAS and how ASC-traits manifest in the general population. Additionally, the differences between ASC and the WAS can be assessed by comparing the performance of people with a diagnosis to those in the WAS who have high ASC-traits. Through understanding the differences between these populations we are better able to understand what drives the clinical impairments associated with ASC. The current thesis assesses facial emotion processing in people with ASC and those in the WAS in order to understand the differences and similarities that exist. This was conducted using several cognitive tasks that assess the underlying brain mechanisms associated with facial emotion processing. Directed by the social motivation theory of autism, the current work used visual adaptation paradigms to assess how the brain represents emotional expression information in those with ASC and people with high and low ASC-traits. Additionally, the dot-probe paradigm was employed to explore attentional orienting for emotional expressions in ASC and the WAS. Results found that WAS participants with high ASC-traits do not represent negative emotional expressions in the same way as those with fewer ASC-traits. When assessing attention mechanisms those with high autism-traits were more likely to bias attention towards emotional expression information. Results suggests that WAS individuals with high ASC-traits process emotional faces differently from their low ASC-trait counterparts and also have a different way of selecting which emotions to attend to in their environment. People with ASC had deficits in mental representation of emotional expression but did not show the same pattern of attention to emotional expressions seen in high ASC-trait WAS individuals. These results do not suggest the autism spectrum is linear. Results are discussed suggesting that those with high traits of autism have a profile of behaviour that cannot be explained by the social motivation theory whereas ASC results do follow predictions this theory makes.

Background: Autism Spectrum Conditions are associated with difficulties in core social communication and social interaction (American Psychiatric Association, 2013) and comorbid psychopathology (Simonoff, Pickles, Charman, Chandler, Loucas & Baird, 2008). These problems are often exacerbated in middle childhood and adolescence owing to the increased complex social milieu for children on the spectrum. The present study aimed to evaluate the effectiveness of a short-term LEGO®-based therapy for children and adolescents with high functioning Autism Spectrum Conditions. Another interesting and novel aspect of this study is the application of repertory grid technique (Kelly, 1955) to explore psychological changes in construing over the course of the LEGO®-based therapy. Methods: Twenty-five high functioning children and adolescents with Autism Spectrum Conditions (M =12.40, SD = 2.02) took part in an eight-week, clinic based LEGO®-based therapy sessions within an outpatient, mental health setting. Baseline, pre- and post-intervention outcome measures, including parent- and self-reports and repertory grid technique, were administered to assess changes during the eight-week baseline period with that during the eight-week intervention period in the area of autism specific social behaviours, adaptive functioning, psychopathology, and construing. Results: On average, participants made significant gains across autism specific social behaviours, adaptive social and maladaptive behaviour, psychopathology, and coping following LEGO®-based therapy but not during the baseline period. In addition, participants also showed some changes in construing, including the way they viewed themselves and person with ASC, a loosening of construing and an overall change in construing from pre- to post- intervention. Effect sizes (Pearson's r) for these statistical significant results ranged from medium to large. Correlations between construing and psychopathology were also noted but not for autism-specific social behaviours or adaptive functioning. Conclusions: Overall, LEGO®-based therapy was a highly attended group (M = 89.5%) and well received by participants and their parents. These findings suggest that LEGO®-based therapy is feasible, cost-effective and can be set up in mental health services as part of the treatment plan for children and adolescents with high functioning Autism Spectrum Conditions. Future studies should focus on the effectiveness of LEGO®-based therapy with girls on the spectrum or children with social related conditions and conduct large scale randomised controlled trials.

Existing research has started to explore the experiences of the people around children and adults diagnosed with Asperger's Syndrome (AS) and High Functioning Autism (HFA). However, there are very few studies looking at the experiences of fathers, and there are less studies in relation to adults rather than children. This study aims to take an in depth look at the experiences of these fathers in order to start building our knowledge of the experiences of being the father of someone with a diagnosis of AS or HFA. Four fathers of sons and three fathers of daughters with a diagnosis of AS or HFA were interviewed using a semi-structured interview. The experiences of the fathers were explored qualitatively, using Interpretative Phenomenological Analysis. Analysis of the transcripts brought out four superordinate themes for the seven fathers. The first theme: 'The changing role but constant responsibility of being a "Father"' described the fathers' perceptions of their roles and responsibilities towards their child as they have grown up and into the future. The second theme: 'The importance of knowledge and understanding' described the importance the fathers placed on developing their understanding of their child and the need for other people to understand them and their child. The third theme: 'The intense emotional impact' came from the fathers' descriptions of the positive and negative emotional reactions to the challenges their children and families have faced. The final theme: 'The importance of good support' includes the fathers' good and bad experiences of support services and support from family and friends. The results of the analysis are discussed in relation to the existing literature and in terms of what they mean for the clinical practice of people working with fathers of children and adults with AS or HFA. The strengths and limitations of the study are also discussed.

This work aims at developing a novel machine learning method to investigate heterogeneity in neurodevelopmental disorders, with a focus on autism spectrum conditions (ASCs). In ASCs, heterogeneity is shown at several levels of analysis, e.g., genetic, behavioral, throughout developmental trajectories, which hinders the development of effective treatments and the identification of biological pathways involved in gene-cognition-behavior links. ASC diagnosis comes from behavioral observations, which determine the cohort composition of studies in every scientific field (e.g., psychology, neuroscience, genetics). Thus, uncovering behavioral subtypes can provide stratified ASC cohorts that are more representative of the true population. Ideally, behavioral stratification can (1) help to revise and shorten the diagnostic process highlighting the characteristics that best identify heterogeneity; (2) help to develop personalized treatments based on their effectiveness for subgroups of subjects; (3) investigate how the longitudinal course of the condition might differ (e.g., divergent/convergent developmental trajectories); (4) contribute to the identification of genetic variants that may be overlooked in case-control studies; and (5) identify possible disrupted neuronal activity in the brain (e.g., excitatory/inhibitory mechanisms). The characterization of the temporal aspects of heterogeneous manifestations based on their multi-dimensional features is thus the key to identify the etiology of such disorders and establish personalized treatments. Features include trajectories described by a multi-modal combination of electronic health records (EHRs), cognitive functioning and adaptive behavior indicators. This thesis contributes in particular to a data-driven discovery of clinical and behavioral trajectories of individuals with complex disorders and ASCs. Machine learning techniques, such as deep learning and word embedding, that proved successful for e.g., natural language processing and image classification, are gaining ground in healthcare research for precision medicine. Here, we leverage these methods to investigate the feasibility of learning data-driven pathways that have been difficult to identify in the clinical practice to help disentangle the complexity of conditions whose etiology is still unknown. In Chapter 1, we present a new computational method, based on deep learning, to stratify patients with complex disorders; we demonstrate the method on multiple myeloma, Alzheimer’s disease, and Parkinson’s disease, among others. We use clinical records from a heterogeneous patient cohort (i.e., multiple disease dataset) of 1.6M temporally-ordered EHR sequences from the Mount Sinai health system’s data warehouse to learn unsupervised patient representations. These representations are then leveraged to identify subgroups within complex condition cohorts via hierarchical clustering. We investigate the enrichment of terms that code for comorbidities, medications, laboratory tests and procedures, to clinically validate our results. A data analysis protocol is developed in Chapter 2 that produces behavioral embeddings from observational measurements to represent subjects with ASCs in a latent space able to capture multiple levels of assessment (i.e., multiple tests) and the temporal pattern of behavioral-cognitive profiles. The computational framework includes clustering algorithms and state-of-the-art word and text representation methods originally developed for natural language processing. The aim is to detect subgroups within ASC cohorts towards the identification of possible subtypes based on behavioral, cognitive, and functioning aspects. The protocol is applied to ASC behavioral data of 204 children and adolescents referred to the Laboratory of Observation Diagnosis and Education (ODFLab) at the University of Trento. In Chapter 3 we develop a case study for ASCs. From the learned representations of Chapter 1, we select 1,439 individuals with ASCs and investigate whether such representations generalize well to any disorder. Specifically, we identify three subgroups within individuals with ASCs that are further clinically validated to detect clinical profiles based on different term enrichment that can inform comorbidities, therapeutic treatments, medication side effects, and screening policies. This work has been developed in partnership with ODFLab (University of Trento) and the Predictive Models for Biomedicine and Environment unit at FBK. The study reported in Chapter 1 has been conducted at the Institute for Next Generation Healthcare, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai (NY).

<p>  </p> <p>Dyadic play interactions are a cornerstone of early development and difficulty engaging in sustained synchronous interactions are linked to later difficulties with language and joint attention. For children at elevated risk for autism spectrum disorder (ASD), it is unclear if early difficulties in synchronous exchanges could inform later diagnoses. As part of a prospective monitoring study, infant siblings of children with ASD (high-risk group) or typical development (low-risk group), and their mothers completed a standardized play task. Play interactions for infants were evaluated to: (1) assess if early difficulties with social responsiveness or synchrony proceed ASD diagnoses within the first year; (2) explore whether repertoires of observed synchronous behaviors distinguish ASD-risk; and (3) examine whether the unfolding rates of synchrony and responsiveness over continuous time highlight ASD-risk differences. </p> <p><br></p> <p>By 12 months, distinct mean-level differences in synchrony and responsiveness by risk status were observed. Higher synchrony and responsiveness totals were also positively associated with infants later language and cognitive scores and negatively associated with ASD symptom severity (Chapter 2). Although, dyads utilized mostly comparable repertoires of observed synchronous and responsive behaviors, regardless of group membership (Chapter 3). And lastly, the overall rates of unfolding synchrony and responsiveness were fairly stable throughout the interaction. However, distinct patterns by ASD-risk and developmental outcomes were evident (Chapter 4). Ultimately, the encompassed studies did not consistently find robust ASD-specific differences. However, these studies did demonstrate the applicability of advanced methodologies to provide relevant contextual/dyadic elements (beyond the field’s norm of mean-level totals), particularly for infants with non-autism developmental concerns. Future research should build upon these studies to assess synchrony and responsiveness growth curves that extend beyond 12 months of age, as well as utilize behavioral coding approaches that systematically capture both synchronous and asynchronous exchanges.</p>

Purpose: The aim of this essay and its contribution to research is to identify the opportunities, pitfalls, and dilemmas that can arise when inclusive education is organized with regard to students with ASC. In order to create more understanding of the situation for students with ASC in schools, the study focus on school leadership. Sub-studies: The essay consists of two studies. In the first study (1) the aim was to identify, describe, and analyze different research approaches to inclusive education and social participation for students with ASC, by performing a systematic research review. In the second study (2) principals of Swedish schools were interviewed, data collection was divided into three sets of interviews based on and using two models as tools in the analysis process. The models are the Index of Inclusion (Ainscow &amp; Booth 2002) and three key concepts for inclusive school leadership (European Agency of Special Needs and Inclusive Education 2018; Óskarsdottir et al. 2020). Theory: A dialectical approach (Clark, Dyson &amp; Millward 1995; 1998) or the dilemma perspective (Nilholm 2003) have been used as a theoretical lens. This approach aims to provide a dynamic and abductive reasoning for the overall analysis in the essay, since inclusive education appears to create dilemmas when societal cultures and norms, bureaucracy, and structures meet. The analysis demonstrates that inclusive processes appear as dilemma-creating at different levels in the system and addresses democracy in terms of social justice. Method: Crystallization is a term that relates to the practice of using multiple data sources and results, research approaches and lenses (Ellingson 2008; Tracy 2010), which leads to a more complex understanding being opened up in the overall analysis. Knowledge contribution: Inclusion is mainly interpreted as the students’ experience of being socially accepted and having access to academic education and the curriculum. Principals’ feeling of loneliness in relation to their superiors—they need to fight for their students and their staff against decisionmakers higher up in the education system hierarchy. At the same time, it is noted that principals have agreat deal of freedom in their practice, but the issue of communication needs to be raised and support for principals is important. A discussion is needed about whose perspective is the prevailing one in decisionmaking processes in schools and in the school system. Limitations: The data collection of the second study (2) took place via virtual meetings due to the pandemic. Virtual meetings are limited by the lack of being able to observe the interviewee's body language and nonverbal communication, as well as a small sample of respondents. These limitations affect the essay in general and thus to some extent reduce the possibility of generalizing the results. Practical implications: This essay can contribute to a more comprehensive understanding of the inclusion concept in relation to students with ASC. It can potentially initiate forums for further discussions on the working conditions of principals in relation to their responsibilities and the expectations placed upon them. In addition, to conduct a continuous discussion about the importance of authenticity and accountability for all professionals in the school and its stakeholders. Development and improvement of structures that facilitate the inclusion of the student voice in decision-making processes are also seen as important. / <p>Incorrect ISBN in publication: 987-91-7877-319-0 (print), 987-91-7877-320-6 (pdf)  </p>

<p>The manifestations of early sleep disturbances on cerebrospinal fluid and their relations with early developmental competencies are understudied. Recent studies highlight cerebrospinal fluid disbursement as a potential factor associated with dysfunctions in brain development. With two studies, we explored sleep and extra-axial cerebrospinal fluid (EA-CSF) connection as a potential mechanistic pathway by which sleep dysregulation influences brain and behavior development. Specifically, we evaluated associations between (1) EA-CSF to total cerebral volume (EA-CSF/TCV) ratios, (2) parent-report of child sleep problems, and (3) social communication development in typical (Study 1) and atypical populations (Study 2). In typical infants, early sleep problems did not precede later elevated EA-CSF/TCV ratios or social-communicative competence. Elevated EA-CSF/TCV ratios were associated with impaired social communication skills, suggesting that a relationship between elevated EA-CSF/TCV ratios and social communication impairments exists regardless of neurological or sleep problems. In an atypical population with autism spectrum disorder (ASD), older children with ASD had similar EA-CSF/TCV ratios to a group of their typically developing peers. Sleep problems were negatively associated with EA-CSF/TCV ratios but positively associated with social-communicative impairments for children with ASD, highlighting the influence of sleep problems on both brain and behavioral outcomes in an atypical population. In both studies, EA-CSF volumes continue to increase during early development in the typically developing populations (but not later in the atypical sample), underlining its relevance as a marker of atypical processing. Recognizing the potential roles of EA-CSF in influencing several biosocial and behavioral aspects of development, we encourage researchers to continue to explore EA-CSF growth, especially during developmental periods of flux and transition. Future work with longitudinal data can also serve to explore sleep-related developmental changes in EA-CSF, in association with behavioral and phenotypic changes. </p>