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Minor physical anomalies (MPA) are mild congenital malformations in external physical abnormalities that are observed in neurodevelopmental disorders such as velocardiofacial syndrome (more commonly known as 22q11.2 deletion syndrome), autism and schizophrenia. It has been reported that about three-quarters of MPAs can be found in the craniofacial region, such as low-seated ears, high-steepled palate, altered interorbital distance. Furthermore, both eye and brain development are tightly linked, and interorbital distance and optic chiasmic angle in adulthood are perinatally fixed. Therefore my study investigated MPAs of the optic system in two neurodevelopmental disorders, 22q11.2 deletion syndrome and autism spectrum disorders (ASD). The four selected MPAs included 1) inter-orbital distance, 2) the optic chiasmic angle, 3) anterior extension of optic nerves ‘a’, and 4) posterior extension of optic nerves ‘b’. They were investigated in two individual studies, the first comprising 17 adults with ASD and 21 controls while the second comprised 27 adults with 22q11.2 deletion syndrome and 28 controls. Their MRI scans were analysed with respect to the MPAs. The main finding was that adults with ASD had significantly larger total brain volume which was positively correlated with the anterior extension of optic nerves ‘a’, but not the other optical MPAs. This suggested that the larger brain volume was more related to frontal brain enlargement. As no relevant significant results were obtained in the controls nor adults with 22q11.2 deletion syndrome, such finding appears pertinent to ASD adults, rather than that to a genetic neurodevelopmental disorder. However, this finding is only preliminary, and other neurodevelopmental disorders should be included for comparison with ASD and healthy controls. The use of MRI appears to be a feasible tool to assess MPAs. Future work will focus on whether these observations can be replicated across the life-span by evaluating these parameters in children with ASD, as well as adults with other neurodevelopmental disorders. / published_or_final_version / Psychiatry / Master / Master of Philosophy

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No description available.

The current studies addressed two questions regarding early social behaviour in children with Autism Spectrum Disorders (ASD) that have not yet been directly explored. In Study 1 we examined the hypothesis that impaired imitation in this group may reflect a diminished social motivation to engage, rather than a core deficit in imitation. Young children with and without ASD engaged in imitation tasks during which controlled manipulations of reward (social and non-social) were administered for target behaviours. Children with ASD displayed increased levels of imitation with the incentive of an external reward in comparison to when this reward was absent. There was no differential impact of social versus non-social rewards. Typically developing (TD) children performed similarly, irrespective of whether or not reward was administered. We suggest that young children with ASD may be capable of imitating when appropriate incentives are present. Study 2 explored the breadth of social challenges faced in young children with ASD by examining a later-developing domain of social functioning that may be compromised by early social difficulties. We explored the tendency of children with ASD to engage in helping, sharing, and comforting behaviour in situations where the need for the prosocial behaviour was displayed and in perceptually similar situations where the need was absent. Children with ASD displayed low levels of helping and sharing, but provided comfort at levels consistent with TD children. For both comforting and sharing, children with ASD successfully discerned situations where a need was present from when it was not and adjusted their behaviour accordingly. We suggest that children with ASD may require different ‘conditions’ to engage in social behaviours at the same level as their TD peers and suggest future research to this end. / Thesis (Ph.D, Psychology) -- Queen's University, 2012-09-27 22:10:12.095

AN ABSTRACT OF THE THESIS OF Anna Kallal, for the Masters of Science degree in Communication Disorders and Sciences presented on March 28, 2016, at Southern Illinois University Carbondale. TITLE: AUTISM AND OUR COMMUNITY: FEEDBACK FROM EARLY INTERVENTION PROVIDERS MAJOR PROFESSOR: Dr. Valerie Boyer Early Intervention (EI) providers often work closely with children who are diagnosed with autism spectrum disorder (ASD) or children who have signs and symptoms of ASD. An understanding of the characteristics in children at early ages can lead to an earlier diagnosis of ASD. The current study investigated specific characteristics that EI providers identify prior to making a referral for an ASD evaluation as well as what treatment strategies EI providers report utilizing when working with children who have ASD. Information was gathered for this study by use of a survey. The survey contained two vignettes of children with varying degrees of ASD characteristics. Speech-Language Pathologists (SLP) who work as EI providers responded to a survey. Results showed that respondents were more willing to make referrals for ASD evaluations when a child displayed more severe characteristics. Respondents listed treatment strategies they were likely to employ with children who display similar characteristics of the children in the vignettes. The researcher identified from survey responses that EI providers are more likely to identify social communication characteristics when describing features critical to referral. This study identifies the characteristics important to making earlier referrals for ASD evaluations, as well as what treatment strategies work best when working with children with ASD.

The high prevalence of autism spectrum disorder (ASD) results in large costs to individuals, families, and society. Among diagnosed individuals, restrictive and repetitive behaviors (RRBs) correlate with functional impairments substantially impacting wellbeing but remain less studied than social and communication deficits. Brain resting-state functional connectivity (fc) measures intrinsic, potentially RRB-associated neural dynamics. Here, whole-brain (WB), and iterated seed-based (SB)fc guided by the preceding WBfc and a priori hypotheses was performed. Combined results were used to model a brain network beginning with qualitative assessment of its potential functional association with RRBs. Once rigorously defined, the network was used to inform construction of a dynamical systems model of brain activity hypothesized to correlate with RRB severity. Qualitative model behavior tracked expectations of real cortical activity in RRB presentation. Model numerical output was found to correlate with behavioral measures of RRBs to a significantly greater degree than the underlying brain connectivity values themselves did. Some summary measures of model output were also found to correlate significantly, though near threshold, with severity measures in the other two ASD core deficit domains, and particularly, far more extensively than should be expected given the underlying brain connectivity values themselves were apparently effectively wholly uncorrelated with the measures. Significant findings are: (1) dynamical modeling of brain activity can identify significant correlations with symptom manifestation that fc alone cannot; (2) dynamical modeling of brain activity could potentially increase understanding of ASD’s extensive heterogeneity across symptom domains; (3) extensive overlap between the constructed network and known RRB-implicated brain divisions was identified, with cerebellum, increasingly implicated in distributed neocortical functional differences in RRBs in humans and animal models, centrally connected to multiple such divisions; (4) further overlap is found via striatal circuitry, implicated in multiple RRB-like behaviors previously, and forming at least 1/3 of the functional basis for the network’s hypothetical relationship with RRBs; (5) ASD-associated angular gyrus, PFC, ACC overlap was found. This successful tandem application of fc, dynamical modeling, and neurocognitive network theory illustrates the need for broad theoretical approaches in illuminating ASD heterogeneity and the neurocognitive underpinnings of specific ASD presentations. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2021. / FAU Electronic Theses and Dissertations Collection

Divided attention, or the ability to respond to more than one task simultaneously, is an important skill for navigating complex social, communicative, academic, and professional settings. The purpose of the current study was to understand the association between the volume of the posterior cerebellum and divided attention in individuals with autism spectrum disorders (ASDs) and control participants. It was hypothesized that the ASD group would have worse divided attention abilities and smaller posterior cerebellar volumes compared to the control group. Furthermore, reduced posterior cerebellar volume was expected to be associated with weaker divided attention abilities. Participants were young adult males with high-functioning autism spectrum disorders (n=15) and controls matched for age, handedness, and nonverbal IQ (n=19). Results showed partial support for worse divided attention performance in ASDs and for a positive association between posterior cerebellar volume and divided attention performance. There were no group differences in posterior cerebellar volume, and accounting for intracranial volume did not affect findings. Limitations of the current study and future directions are discussed. / text

Objectives: There has been a significant increase in the incidence rates and public awareness of autism spectrum disorder (ASD) in recent years. The DSM-5’s latest modification of diagnostic criteria for ASD has also stimulated considerable debate. Despite the rising concerns, few studies have been conducted in the Chinese population of Hong Kong, especially among youth and adolescents. This study investigates the clinical profile of ASD in adolescents in Hong Kong. In addition to using screening instruments commonly used to assess specific ASD characteristics, other psychometric measures for internalizing and externalizing problems are employed to examine their associations with the ASD symptoms. It also assesses the extent to which different ASD symptoms and their associated features predict parenting stress. Methods: A total of 143 adolescents aged between 11 and 17 (M = 14.17; SD = 1.76) completed this study with their parents, including 71 adolescents with ASD and 72 typically developing adolescents. Adolescents completed two self-report measures of emotional symptoms: the Spence Children’s Anxiety Scale (SCAS) and Children’s Depression Inventory (CDI). Their parents completed the Autism Spectrum Screening Questionnaire (ASSQ), Child Behaviour Checklist (CBCL), and Spence Children’s Anxiety Scale – Parent version (SCAS-P) for evaluating their child’s characteristics. Parents also completed the Depression, Anxiety, and Stress Scale-21 (DASS-21) and Parenting Stress Index-Short Form (PSI-SF) for measuring their own parenting stress. Results: All measures showed good to excellent internal consistency. They were as reliable and internally consistent as the original English versions. Parent reports in the ASD group were significantly higher than in the control group on all measures. Mean ASSQ scores in the ASD group fell within the clinical range. Optimal ASSQ cutoff scores were estimated using receiver operating characteristics analysis. ASD symptoms, as well as internalizing and externalizing problems, were found to be significant discriminators between the ASD group and the controls. In addition, parents reported that their child’s emotional and behaviour problems were more distressing than the ASD symptoms. Discussion: This study highlights the importance of evaluating specific ASD characteristics and their associated symptoms of emotional and behavioural disturbances. This study suggests an optimal cutoff score of 9 for the ASSQ in Hong Kong. However, there is a need to assess its generalizability using large-scale community samples and other childhood clinical conditions. Although the findings appear to support the revised DSM-5 taxonomy of ASD, they must be interpreted with caution. Future treatments should provide parents with adequate professional support for reducing parenting stress and helping them cope with their child’s social, emotional, and behavioural impairments. Conclusions: This study documents preliminary norms for a broad range of measures for adolescents with ASD in Hong Kong. It also provides a useful empirical basis for future investigations of the interplay between specific ASD characteristics and their associated features. Regarding treatment planning, this study postulates a comprehensive treatment model for adolescents with ASD to guide treatment research. / published_or_final_version / Clinical Psychology / Doctoral / Doctor of Psychology

Pragmatic language impairments have been found in children with high-functioning Autism (HFA). Limited studies have investigated the contributing factors. This study compared 23 children with HFA with 28 typically-developing children on pragmatic language measures, with their age, cognitive ability and language ability matched or controlled. Deficit of children with HFA was found in making inferences in comprehension but not in narrative ability, and abilities to make inferences in narrative and about psychological state. Theory of mind was an impairment for children with HFA and correlated with inferences about psychological state. In the measure of executive functioning at visual-perceptual level, better performance was found in children with HFA. This cognitive factor did not correlate with any pragmatic language measure. / published_or_final_version / Educational Psychology / Master / Master of Social Sciences