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CASE: A 6-year-old boy with a diagnosis of autism spectrum disorder (ASD) presented to primary care for a newpatient, transfer-of-care evaluation. At the initial encounter, the patient used a maximum of 60 words and was receiving speech and language therapy (SLT) through school. Family history was positive for seizures in the father and paternal grandfather as well as ASD in an older brother. Referrals to genetics, private SLT, and an autism specialist were offered, although the latter was declined by family. The subsequent genetics evaluation resulted in discovery of a small gain on chromosome 1q42.2 and associated partial duplication of the DISC1 gene. The assay could not determine the exact clinical significance of the abnormality, but similarly sized and located abnormalities involving the DISC1 gene are reported in some patients with ASD and developmental delay. During a follow-up pediatrics appointment, the father expressed his wish for further evaluation of causes of autism spectrum disorder (ASD) and requested an electroencephalography (EEG) evaluation. The family concomitantly reported slow improvement in speech with therapy, the use of up to 200 words, and the ability to count to 10. The primary care physician reiterated that EEG and imaging studies are not indicated for an isolated ASD diagnosis with no supporting history or physical examination indications. The clinician discussed ASD-recommended therapies with the family. Neurology referral was made per parental request. The patient subsequently presented to neurology at the age of 7 years. The parents reiterated during the initial neurologic developmental history that the patient had shown some improvement with speech and language therapy in the past 18 months, knew as many as 200 to 300 words, and could put some words together into simple sentences. Gross and fine motor development were felt to be within the normal range for age. The parents also reported some scripting, and mild echolalia was noted on examination. Notably, there was no history of language regression. Apart from language delay, the neurologic examination was otherwise normal at initial evaluation. Given this clinical picture, ASD treatment options were again discussed. Despite education, parents continued to request for EEG evaluation as a workup for the etiology of the patient's ASD. Electroencephalography was ultimately ordered owing to the strong and repeated paternal request despite denial of any seizure-like episodes in the patient. EEG unexpectedly showed extremely frequent, almost constant focal electrographic seizures arising from the T3/T5 electrodes in the speech area of the left temporal lobe, prompting the initiation of oxcarbazepine maintenance therapy. Because of the noted abnormalities on EEG, magnetic resonance imaging (MRI) was obtained. Mild abnormalities were noted on MRI study including possible minimal inferior cerebellar vermian hypoplasia, mildly prominent bodies of the lateral ventricles, and nonspecific, nonenhancing punctate T2 hyperintensities in the subcortical white matter. These findings were not felt to be clinically relevant to the patient's presentation or seizure evaluation. No repeat imaging was ordered. Hindsight is always 20/20. As a clinician evaluating the patient initially, would you have pursued further workup sooner?

Boston University. University Professors Program Senior theses. / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / 2031-01-02

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In this study, a promising new intervention implemented for adults with aphasia due to stroke, Multimodal Communication Treatment, was modified for its use with one child with autism spectrum disorder to identify if the child could learn and communicate new words through learning multiple modalities. Data was collected on the child’s communicative output as well to assess the frequency and types of his communication attempts. The child presented with challenging behaviors throughout the intervention period, and its potential impact on the execution of the intervention was studied. The study found that Multimodal Communication Treatment was not an effective intervention approach for this child. The majority of his output was not communicative in nature and challenging behaviors impacted the effectiveness of implementing the approach. Further research is needed to identify whether Multimodal Communication Treatment could be an effective intervention for children with more communicative intent and increased attention. / text

Attentional abnormalities are one of the earliest signs of Autism Spectrum Disorders (ASD). Despite flourishing attention studies in autism, relatively little is known about attentional performance among young children with high-functioning autism (HFA). The present study compared 23 preschool children with HFA and 28 typically-developing children on attention network efficiencies, selective attention to social or non-social information and attention switching, with age, cognitive and language abilities matched or controlled. Compared with typically-developing children, young children with HFA showed comparative attention network efficiencies, slower orienting to face and better attention switching. Alternative explanations for their strength in attention switching are given based on superior focused attention to visual details and hyper-systemizing skills. Implications on future research and practice are discussed. / published_or_final_version / Educational Psychology / Master / Master of Social Sciences

Autism Spectrum Disorder (ASD) is a pervasive developmental disorder characterized by two distinct features; the social, including impairments in communication and social functioning (empathizing), and the non-social, including preoccupation with restricted interests and repetitive behaviours (systemizing). This thesis investigated non-social cognition in the autism spectrum by undertaking six studies, three with neurotypical participants from the general population and three with an ASD group and matched neurotypical controls. These studies measured autonomic arousal to social and non-social stimuli and stimuli associated with the participant's own special interest or hobby, and change blindness tasks that utilized both social and non-social changes, along with measures of attention to detail and anxiety in an attempt to understand some of the cognitive and affective mechanisms that underlie non-social cognition in ASD and in the wider autism spectrum. A further study assessed 'drive to systemize' along with an objective behavioural assessment of logical thinking ability and a measure of preference for deliberative or intuitive thinking style, to try to further elucidate connections between drive to systemize and ability to systemize, and the modes of cognition that relate to systemizing. Findings included the relationship between autistic traits and stronger physiological responses to non-social stimuli in the neurotypical sample, and a significantly stronger response in the ASD group to non-social stimuli related to personal special interest than in controls. Participants with a larger number of autistic traits showed enhanced change blindness when changes were social in nature. Self-reported high systemizers report that they prefer slow, deliberative styles of thinking and provide more accurate responses to questions that should involve logical thinking-yet they are less able to provide sound logical reasoning for their correct answers than those who are low systemizers. Together, the results suggest that non-social cognition, or systemizing, in autism is motivated by bottom up perceptual and affective processes that share features with conventional social and emotional cognition, or empathizing.

Little is known about the experience of families of children with autism spectrum disorder (ASD) in community settings. The purpose of this research is to learn about the family experience when visiting a science museum, focusing on the motivations of the family, environmental features of the museum, strategies used by family members, and definitions of a successful visit to the museum. Data were collected through semistructured interviews and observations of four families that included a child with ASD. The families in this study appear to want the same community experiences for their children as families with typically developing children. Both the motivations for the visit and features of the environment appeared to influence the family’s approach and strategies they employed for a successful visit. Strategies included those completed before the visit (visitor planning strategies), as well as during the visit (strategies at the museum). The strategies enabled families to enjoy and experience success within the museum environment. The information learned in this study may help families with a child with ASD prepare for and use features of the museum to enjoy successful museum visits. Recommendations are provided for museums seeking to create inclusive opportunities for all families.

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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