1,133 research outputs found
Integrated Web Accessibility Guidelines for Users on the Autism Spectrum - from Specification to Implementation
This research presented a compendium of web interface design guidelines and their implementation on a transport-planning website based on the needs and preferences of users on the autism spectrum. Results highlighted the importance of having simple navigation and meaningful headings, icons, labels and text to facilitate understanding and readability; these findings offer guidelines for the design of web user interfaces to continue improving the web experience of autistic users, and therefore of the whole community
Social Order and Disorder in Autism
This thesis investigates autism as it has been understood in the cognitive and social (neuro)sciences, within the United Kingdom, since 1985. Of specific interest is how these sciences discover, construct, and experiment upon individuals who are understood as socially abnormal. Theoretically, the thesis is positioned between Foucauldian History and Philosophy of Science, Medical Sociology, and Science and Technology Studies. Empirically, two key sources of information are relied upon. Firstly, there is an extensive critical reading of the published literature from 1985 to the present. Secondly, twenty qualitative research interviews were conducted with academic researchers, based within the UK, and with core interests in psychology in general and autism in particular. It is firstly argued that the cognitive sciences rely upon a particular, historically novel, construction of the social in order to articulate autism as social disorder. It is then argued that, although autism is frequently reported as heterogeneous and illusory within the laboratory, social disorder appears self-evident when the autistic individual is required to interact with both the researcher and broader society. Following these findings it is argued that the researcher does not observe autism but, rather, that they achieve it. Finally it is argued that the language of autism is itself capable of ushering in novel conceptualisations of social conduct that may apply to all individuals and not just those diagnosed with the condition. Following these empirical findings it is argued that autism is best understood as the consequence of particular socio-historical conditions. It is asked if these socio-historical conditions may include a novel knowledge-power nexus arising in the mid-twentieth century, named here a socio-emotive politics, of which autism is just one consequence
Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
Objective:
Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted a GWAS meta-analysis and probed aggregated Tourette’s syndrome polygenic risk to test whether Tourette’s and related tic disorders have an underlying shared genetic etiology and whether Tourette’s polygenic risk scores correlate with worst-ever tic severity and may represent a potential predictor of disease severity. Methods:
GWAS meta-analysis, gene-based association, and genetic enrichment analyses were conducted in 4,819 Tourette’s syndrome case subjects and 9,488 control subjects. Replication of top loci was conducted in an independent population-based sample (706 case subjects, 6,068 control subjects). Relationships between Tourette’s polygenic risk scores (PRSs), other tic disorders, ascertainment, and tic severity were examined. Results:
GWAS and gene-based analyses identified one genome-wide significant locus within FLT3 on chromosome 13, rs2504235, although this association was not replicated in the population-based sample. Genetic variants spanning evolutionarily conserved regions significantly explained 92.4% of Tourette’s syndrome heritability. Tourette’s-associated genes were significantly preferentially expressed in dorsolateral prefrontal cortex. Tourette’s PRS significantly predicted both Tourette’s syndrome and tic spectrum disorders status in the population-based sample. Tourette’s PRS also significantly correlated with worst-ever tic severity and was higher in case subjects with a family history of tics than in simplex case subjects. Conclusions:
Modulation of gene expression through noncoding variants, particularly within cortico-striatal circuits, is implicated as a fundamental mechanism in Tourette’s syndrome pathogenesis. At a genetic level, tic disorders represent a continuous spectrum of disease, supporting the unification of Tourette’s syndrome and other tic disorders in future diagnostic schemata. Tourette’s PRSs derived from sufficiently large samples may be useful in the future for predicting conversion of transient tics to chronic tic disorders, as well as tic persistence and lifetime tic severity
A Look into the Lived Experiences of College Students with Asperger\u27s Disorder
Currently there is confusion about how to meet the educational needs of students diagnosed with Asperger\u27s Disorder (AD). This is a growing concern for schools where there has been a significant increase in the use of this diagnostic category (Barnhill, 2001). This research project was developed to investigate the lived experiences of college students with a previously identified diagnosis of AD. The aim of this study was to gain a greater understanding of how these students managed the academic and social demands of middle school and high school. Of particular importance were the transitional years during adolescence, where social competence becomes increasingly important and students are expected to function more independently in the classroom. The project was designed around the constructivist paradigm and the principle that reality is socially constructed. Through semistructured interviews, the personal accounts of 10 individuals were gathered using a case report research design. The utilization of semistructured interviews provided the participants the opportunity to define relevant material and offer insights into their experiences during middle school and high school. Individuals with AD who had made the transition to college were selected because of their knowledge regarding the resources and skills that facilitated the completion of their high school education. Participants identified teachers who had a positive impact on their academic experience, effective accommodations, and obstacles that they encountered. Participants were provided with opportunities to reflect on their understanding of the diagnosis and whether their unique learning styles were acknowledged by teachers. The students` interviews were transcribed and then analyzed for prominent themes. Themes that emerged from the students` narratives indicated that the establishment of the diagnosis of AD often provided an explanation for the social and academic difficulties that they experienced and contributed to students feeling less isolated. The students also indicated that teachers and family members played an integral role in their success. The careful consideration of the specific components of AD and the unique presentation of each student allowed for the implementation of appropriate academic accommodations and supports in the school setting and contributed to the participants\u27 success
A Transcendental Phenomenological Study of Quality-of-Life Training in Self-Regulation Skills of Young Adults with Asperger\u27s Syndrome
The purpose of this transcendental phenomenological study was to understand lived experiences in young adults with Asperger’s syndrome (AS) as they transitioned out of high school after completion of quality-of-life training. The theories guiding this study were Ivan Pavlov’s classical conditioning and Adam Morton’s theory of mind in predictive behaviors. Pavlov’s theory relates to understanding whether individuals could be classically conditioned to reinforce a natural reflex or some involuntary behavior that would occur as a response to classical conditioning. Morton’s theory helped focus this phenomenological study by describing the training in predictive behaviors by conceptual structure. Participants were selected from local high schools, colleges, and universities using purposeful sampling data collected through a triangulation of three methods: surveys, interviews, and focus groups. The analysis used was Moustakas transcendental phenomenological approach. Data collection results generated themes of challenges in social communication, academics, employment, and self-sufficiency. The two major themes prevalent were challenges in both social communications and self-sufficiency since completing QoL training in high school. There are empirical, practical, and theoretical implications of data analysis and recommendations for future research. Empirical research was examined to determine a curriculum-based instruction vocational training program that would help equip young adults with AS to transition to self-regulation toward self-sufficiency. Young adults with AS would function in postsecondary education with the knowledge to identify beneficial accommodations and supports learned in quality-of-life training
Agonizing Identity in Mental Health Law and Policy (Part I)
In this two-part paper, the author explores the significance of identity in mental health law and policy In this as in other socio-legal domains, identity functions to consolidate dissent as well as to effect social control. The author asks: where do legal experts stand in relation to the identity categories that run so deep in this area oflaw and policy? More broadly, she asks: is mentalhealth working on uson the mental health disabled, legal scholars, all of us-in ways that are impairing our capacity for socialjustice? In the first part of the paper, the author considers the Foucauldian exhortation to undertake a critical ontology of ourselves and asks what it would mean to take this curious exhortation personally, with regard to one\u27s mental health. In the second part, which will appear in the next issue of the Dalhousie Law Journal, she builds out from these insights toward a political taxonomy of mental health identities
SMHD: A Large-Scale Resource for Exploring Online Language Usage for Multiple Mental Health Conditions
Mental health is a significant and growing public health concern. As language
usage can be leveraged to obtain crucial insights into mental health
conditions, there is a need for large-scale, labeled, mental health-related
datasets of users who have been diagnosed with one or more of such conditions.
In this paper, we investigate the creation of high-precision patterns to
identify self-reported diagnoses of nine different mental health conditions,
and obtain high-quality labeled data without the need for manual labelling. We
introduce the SMHD (Self-reported Mental Health Diagnoses) dataset and make it
available. SMHD is a novel large dataset of social media posts from users with
one or multiple mental health conditions along with matched control users. We
examine distinctions in users' language, as measured by linguistic and
psychological variables. We further explore text classification methods to
identify individuals with mental conditions through their language.Comment: COLING 201
The cultural epigenetics of psychopathology: The missing heritability of complex diseases found?
We extend a cognitive paradigm for gene expression based on the asymptotic limit theorems of information theory to the epigenetic epidemiology of mental disorders. In particular, we recognize the fundamental role culture plays in human biology, another heritage mechanism parallel to, and interacting with, the more familiar genetic and epigenetic systems. We do this via a model through which culture acts as another tunable epigenetic catalyst that both directs developmental trajectories, and becomes convoluted with individual ontology, via a mutually-interacting crosstalk mediated by a social interaction that is itself culturally driven. We call for the incorporation of embedding culture as an essential component of the epigenetic regulation of human mental development and its dysfunctions, bringing what is perhaps the central reality of human biology into the center of biological psychiatry. Current US work on gene-environment interactions in psychiatry must be extended to a model of gene-environment-culture interaction to avoid becoming victim of an extreme American individualism that threatens to create paradigms particular to that culture and that are, indeed, peculiar in the context of the world's cultures. The cultural and epigenetic systems of heritage may well provide the 'missing' heritability of complex diseases now under so much intense discussion
Genetic vulnerability, environmental exposures and neurodevelopmental disorders : clinical insights and in-vitro consequences
An understanding of how different genetic backgrounds and environmental exposures
interact and contribute to diverse medical conditions like neurodevelopmental disorders
(NDDs), is key to better health outcomes. A considerable overlap exists in the underlying
genetics and physiology, often leading to their co-diagnoses. There is a lack of robust
biomarkers for ASD and ADHD. Furthermore, no efficient resource exists to evaluate
potential gene-environment interactions during early human neurodevelopment. This thesis
addressed these knowledge gaps through five clinical and in-vitro studies.
Study I explored the utility of genetic information from exome sequencing in predicting
intervention outcomes of a social skills group training (SSGT) clinical trial for ASD. A
genetic score was developed for common and rare variants in relevant genetic pathways,
followed by generating a predictive machine learning (ML) model for individual responses.
Variant carriers demonstrated significantly less improvement after standard care at postintervention.
A higher rare variant genetic score for synaptic transmission was linked to less
efficacy after SSGT at follow-up, while an opposite effect was observed for regulation of
transcription from RNA polymerase II. The ML model emphasised the importance of rare
variants in predicting intervention outcomes.
Study II deployed urine-based untargeted metabolomics to investigate ASD-related
biomarkers in a twin cohort with ultra-high performance liquid chromatography and mass
spectrometry (UHPLC-MS). For the first time, any associations with autistic traits were also
evaluated. No metabolite was found to be significantly associated with ASD. Based on
nominal significance, an elevation in phenylpyruvate and taurine, and a decline in carnitine
were detected, amongst others. These were found to be enriched in the arginine and proline
metabolism pathway. More nominally significant metabolites were associated with autistic
traits, and indole-3-acetate was positively associated with autistic traits within twin pairs.
Study III also utilised a twin cohort to detect urinary and faecal metabolites associated with
ADHD using nuclear magnetic resonance (NMR) and UHPLC-MS, respectively. Males with
ADHD had increased levels of urinary hippurate, a metabolite produced by microbial-host
co-metabolism. Hippurate was also negatively associated with intelligence quotient (IQ)
levels in males and differentially associated with faecal metabolites from the gut microbiome.
ADHD faecal profiles were characterised by higher levels of 1-stearoyl-2-linoleoyl-snglycerol
(SLG), flavine adenine dinucleotide (FAD) and 3,7-dimethylurate. Reduced levels
of aspartate, xanthine, orotate and other metabolites were also detected.
Study IV dissected the impact of six environmental factors (lead, valproic acid, bisphenol A,
ethanol, fluoxetine and zinc deficiency) in human induced pluripotent stem cell (iPSC)
derived neuronal progenitors after differentiation for 5 days using the fractional factorial
experimental design (FFED) coupled with RNA-sequencing. This was followed by a
stratified analytical approach. Several gene and pathway level changes, that were both
convergent and divergent for the environmental factor exposures, were identified. Pathways
related to synaptic function and lipid metabolism were significantly elevated by lead and
fluoxetine, respectively. Furthermore, fluoxetine increased the levels of several fatty acids
when validated with direct infusion electrospray ionisation mass spectrometry (ESI-MS).
Study V evaluated the differential in-vitro effects of four commonly prescribed selectively
serotonin reuptake inhibitors (SSRIs: fluoxetine, citalopram, sertraline and paroxetine) in
iPSC-derived neuronal progenitors. Total reactive oxygen species (ROS) and adenosine
triphosphate (ATP) levels were determined at day 5 and 28 of differentiation. Concurrently,
untargeted metabolomics was performed using ESI-MS. Sertraline and paroxetine
significantly decreased ROS and ATP levels. Sertraline mediated early metabolite changes at
day 5, while both sertraline and paroxetine drove such effects at day 28. Combined effects
were driven by LPC 18:0 and LPC 16:0. Overall, metabolites were enriched in phospholipid
biosynthesis and amino acid metabolism pathways.
In conclusion, this thesis highlighted that genetic information can be used as an indicator for
ASD interventions, encouraging further exploration. Urine and faecal metabolites are
potential biomarkers for ASD and ADHD, pending validation. A multiplexable resource for
studying gene-environment interactions was developed, along with a rich dataset outlining
molecular changes in ASD. Lastly, the thesis demonstrated that different SSRIs elicit both
shared and unique in-vitro responses, with a need to evaluate probable in-utero effects. The
findings can guide future clinical studies to generate greater insights into ASD, ADHD and
other conditions with aberrant neurodevelopmental trajectories
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