6,107 research outputs found

    Undergraduate Catalog of Studies, 2023-2024

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    The Non-Standardization of Attention Deficit Hyperactive Disorder: A Call to Action

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    Attention Deficit Hyperactive Disorder (ADHD) is one of the most diagnosed disorders in adults and children, yet there is no standardized method to assess for ADHD. The similarity of symptoms shared across other disorders (comorbidity) makes the assessment of ADHD a very delicate process. This is not aided by the fact that the assessment of ADHD is not standardized. This allows individuals able to assess for ADHD to give a test or a combination of tests that they find fitting. This in turn brings into question the quality of testing and disagreement in diagnosing across fields. Lastly, ADHD-focused measures typically fail to address the overlap in symptoms with other disorders, which can help assist clinicians with differential diagnoses. The question then becomes, how does one attempt to standardize ADHD testing while providing testing that shows adequate clinical validity in both the diagnosis of ADHD and differential diagnosing? This paper aims to produce insight into the complications of ADHD diagnosis and suggest a solution to current testing, in the form of an assessment battery

    Graduate Catalog of Studies, 2023-2024

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    Genetic outcomes in children with developmental language disorder: a systematic review

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    IntroductionDevelopmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have been identified. To provide a base for accurate clinical genetic diagnostic work-up for DLD patients, understanding the specific genetic background is crucial. This study aims to give a systematic literature overview of pathogenic variants or chromosomal anomalies causative for DLD in children.MethodsWe conducted a systematic search in PubMed and Embase on available literature related to the genetic background of diagnosed DLD in children. Included papers were critically appraised before data extraction. An additional search in OMIM was performed to see if the described DLD genes are associated with a broader clinical spectrum.ResultsThe search resulted in 15,842 papers. After assessing eligibility, 47 studies remained, of which 25 studies related to sex chromosome aneuploidies and 15 papers concerned other chromosomal anomalies (SCAs) and/or Copy Number Variants (CNVs), including del15q13.1–13.3 and del16p11.2. The remaining 7 studies displayed a variety of gene variants. 45 (candidate) genes related to language development, including FOXP2, GRIN2A, ERC1, and ATP2C2. After an additional search in the OMIM database, 22 of these genes were associated with a genetic disorder with a broader clinical spectrum, including intellectual disability, epilepsy, and/or autism.ConclusionOur study illustrates that DLD can be related to SCAs and specific CNV's. The reported (candidate) genes (n = 45) in the latter category reflect the genetic heterogeneity and support DLD without any comorbidities and syndromic language disorder have an overlapping genetic etiology

    Discovery of genetic factors for reading ability and dyslexia

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    The ability to read is critical to access wider learning and achieve qualifications, for accessing employment, and for adult life skills. Approximately one in ten individuals are affected by dyslexia, a learning difficulty which primarily impacts word reading and spelling. Specifically, phonological processing (the ability to decode phonemes) is impaired in dyslexia. Whilst some believe dyslexia represents the extreme end of a continuum of reading ability, others have suggested it is a distinct trait. Variation in reading ability is a highly heritable (possibly 70%) complex trait caused by many genetic variants with a small effect size. However, the genetic architecture of reading ability and dyslexia is largely unknown due to a lack of quantitative genetic studies with sufficient statistical power to detect such small effect sizes. Previously, most genetic studies of reading ability have been conducted using samples of children with dyslexia, which tend to be modest in size. Whilst large samples of genotyped unselected adults have been collected (for example UK Biobank), phenotypic data on reading or language skills is rarely prioritised. The overall aim of this thesis is to discover genetic variants associated with dyslexia and variation in reading skill in order to better understand the aetiology of reading difficulties, which in turn, may inform prediction, identification and intervention strategies in the future. Firstly, I will conduct a genome-wide association (GWA) study of over 50,000 adults with a self-reported dyslexia diagnosis and over 1 million controls to identify associated single nucleotide polymorphisms (SNPs). I will also explore ways to improve power for discovering genetic factors associated with reading ability. To do this, I will first investigate whether unselected adult samples are valid as a means to identify genetic factors associated with reading skill through a candidate gene approach. Secondly, I will investigate whether proxy reading phenotypes are also a means to gain power through large cohorts that have no quantitative measure of reading ability. Such samples may be informative for future GWA meta-analysis of quantitative reading ability. In Chapter 1, I will first introduce reading ability and dyslexia. I will discuss how reading ability is a quantitative trait and how it can be measured before discussing how dyslexia is identified. Then, I will consider how dyslexia may relate to reading ability: whether it represents the extreme end of a continuum of reading or whether it is a distinct trait. I will then introduce the known causes of variation in reading ability and dyslexia, which includes both environmental and genetic factors. Next, I will present the history of genetic studies of reading ability and dyslexia and their limitations. Finally, I will discuss the current state of genetic research into reading ability and introduce the aims of my thesis in detail. Chapter 2 is a publication in Nature Genetics entitled ‘Discovery of 42 genome-wide significant loci associated with dyslexia’ which includes GWA analysis of over 1 million 23andMe, Inc participants reporting on dyslexia diagnosis. I identify 42 independent genome-wide significant loci, 15 of which are in genes previously linked to cognitive ability and/or educational attainment, and 27 of which are novel and may be more specific to dyslexia. Extensive downstream biological analysis is performed alongside genetic correlations with other traits and dyslexia polygenic score prediction of quantitative reading scores. Chapter 3 is a publication in Twin Research and Human Genetics on ‘The association of dyslexia and developmental speech and language disorder candidate genes with reading and language abilities in adults’ which analyses an adult population cohort with quantitative measures of reading and language ability to replicate previous associations of candidate genes and biological pathways with dyslexia. I demonstrate that unselected adult populations are a valid means by which to identify genes which have previously been associated with dyslexia and/or speech and language disorder. Chapter 4 is a research chapter in which I construct a proxy reading phenotype from measures of reading frequency in an unselected adult sample for whom a quantitative measure of reading ability is not available. I find that a dyslexia polygenic score constructed from the dyslexia GWA analysis in Chapter 3 cannot explain variation in the proxy phenotype suggesting that book reading is not a sufficient substitute for reading ability. Finally, in Chapter 5, I integrate and discuss my research findings. I highlight the discovery of 42 variants associated with dyslexia through GWAS, in addition to the discovery of new genes and biological pathways which may form part of the biological basis of dyslexia. Following this, I consider what GWAS tells us about candidate gene findings. I discuss traits which are genetically correlated with dyslexia, including quantitative reading skills and ADHD. I consider the relationship between dyslexia and reading ability, and how genetic studies can help us to understand this better. I also consider the relationship between dyslexia and other developmental disorders, and how genetic studies can help us to understand this better. Lastly, I discuss methods to boost power for GWAS of reading ability

    Graduate Catalog of Studies, 2023-2024

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    Interventions addressing challenging behaviours in Arab children and adults with intellectual disabilities and/or autism : a systematic review

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    Background: Arabs with intellectual disabilities and/or autism may exhibit challenging behaviour that affects them and their caregivers. Early, appropriate intervention may reduce these effects. This review synthesised and critically appraised challenging behaviour intervention research for this population. Methods: All published empirical research on challenging behaviour interventions for Arabs with intellectual disabilities and/or autism was included. In September 2022, 15 English and Arabic databases yielded 5,282 search records. Studies were appraised using the MMAT. Review findings were narratively synthesised. Results: The 79 included studies (n= 1,243 participants) varied in design, intervention, and evaluation method. Only 12.6% of interventions were well-designed and reported. Arab interventions primarily targeted children, were applied collectively on small samples, lacked individualised assessment, and were based on an inconsistent understanding of challenging behaviour. Conclusion: The evidence base on interventions for Arabs with intellectual disabilities and/or autism and challenging behaviour needs strengthening. Attention should be given to culturally relevant adaptations

    Exploring the perspectives of young people with SEND during the transition out of further education: a study using Q-Methodology.

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    This study explores the perspectives of young people with SEN and/or disabilities in their final year of further education. The purpose of the study is to explore the lived experience of young people and to develop an understanding of their priorities in relation to the future, using the Preparing for Adulthood framework as a guide. It also considers the difference in experience between young people with and without a registered disability. The study uses Q-methodology to seek the subjective outlooks of 10 young people aged 17-23 from a local group of colleges within one local authority in England. The set of statements is based on the priorities of the Preparing for Adulthood framework. Post-sort interviews were conducted, and the young people’s stories were used to make sense of their responses. The analysis of the Q-sort data revealed three factors which, together, account for 65% of the variance within the study. The three factors all had eigenvalues of more than 1.00, which is an indicator of the explanatory power of the factor. The three factors were explored based on the placement of the statements, which demonstrated a particular outlook. The 3 extracted factors highlight different perspectives on the question of ‘what is important to you as you begin to prepare to leave college?’. The participants who loaded significantly onto each factor were found to share some characteristics. Through narrative analysis of their post-sort interview transcripts, it was possible to develop labels for three factors which explain the perspectives of the participants who loaded onto them most significantly. The results indicate that there is some parity between young people with and without disabilities, leading to recommendations around how EPs and other allied professionals can further support young people with SEN at this stage in their lives

    Characterization of reading errors in languages with different orthographic regularity: an Italian–English comparison

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    The study examined whether a classification of errors based on Hendriks and Kolk’s (1997) proposal would effectively characterize the reading profile of children learning two orthographies varying for regularity, such as Italian and English. The study considered both an age-match and a grade-match comparison. Offline analysis of error production was carried out for two lists of stimuli: List 1 including regular words varying for frequency and matched non-words and List 2 including low-frequency words varying for regularity. In List 1, Italian-reading children made more multiple attempts characterized by a slow and progressive approach to the target (sounding-out behavior) than English-reading children, while the latter made relatively more word substitutions and non-word lexicalizations. As for List 2, Italian-reading children made relatively more multiple attempts and progressive approaches to the target compared to the English-reading children (with more sounding-out behaviors and syllabications), while the opposite occurred for phonological-visual errors, word substitutions, morphological, and semantic errors. Both groups showed a high proportion of phonological-visual and regularization errors (stress assignment in the case of Italian-reading children). Overall, the use of an error coding system specifically tuned to the characteristics of the orthographies investigated allowed a more comprehensive identification of reading difficulties which allowed the different strategies used by children of different languages to emerge more clearly (more reliance on sub-lexical routines in Italian readers and on lexical routines in English readers). These results call for more attention to error patterns in the identification of reading difficulties in children of different languages including those learning a transparent orthography where error analyses have largely been ignored

    Understanding concussion in para athletes with vision impairment

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    Sports-related concussions occur in para sport as they do in able-bodied sport. There is evidence to suggest athletes with vision impairment (VI) may be more likely to sustain concussion injuries compared to athletes with other impairment types. However, there is limited understanding of best practices in concussion assessment and management for athletes with VI. Symptoms intrinsic to pre-existing conditions in para athletes are also commonly seen in athletes suffering from a concussion, which makes the assessment and management of concussion more challenging in the para athlete population. Perspectives and experiences of VI para sport athletes and coaches with concussion are also poorly understood. The purpose of this project was to understand how concussions are currently assessed and managed in elite para athletes with vision impairment, to move toward establishing clinical practice guidelines and critical research priorities in concussion management for elite athletes with VI. The secondary objective of this thesis was to understand the perspectives, experiences, and knowledge of elite athletes with VI and coaches concerning concussion in VI para sport. A two-round Delphi study was conducted to solicit the opinions of healthcare professionals, researchers, and administrators in VI para sport concerning concussion assessment and management practices. Eight out of the nine interested participants completed the first-round survey; seven of those completed the second-round survey. Five out of eight participants were sports medicine physicians, and the remaining three participants had a background in physical therapy. Experts identified that VI athletes may exhibit different observable signs of concussion (e.g., lack of blank look, balance issues at baseline, etc.) compared to able-bodied athletes. Experts unanimously agreed that pre-season baseline testing is necessary for para athletes with VI. While most experts (86%) agreed the SCAT5 currently represents the most effective assessment tool available for the evaluation of suspected concussion, one expert disagreed and explained that the SCAT5 is too complex for regular sideline use. Some experts suggested prescribing a longer period of initial rest or doubling the time between return-to-sport steps for athletes with VI. Experts came to a unanimous consensus that there is a lack of after-care in VI para sport in addition to the lack of on-site specially trained medical support. Elite para athletes with VI and coaches were invited to participate in a single-round survey study. The survey questions covered the following topics: Demographics; Concussion incidence, recognition, response, assessment, and management; Return-to-sport; and Education. Analysis consisted of categorizing written responses and analyzing response frequencies. A total of 8 participants (athletes (n = 4); coaches (n = 4)) from elite VI para sport took part. Athletes were found to have less awareness of medics at sidelines, assessment tools, how decisions are made to investigate for concussion, and the need for concussion assessments than coaches. Athletes were also more likely to not report incidents with reasons for not reporting including “don’t think it’s serious”, “time and money”, and “misdiagnosis because of underlying conditions”. Coaches are not considering athlete involvement in return-to-play decisions. Athletes and coaches agreed that it is important for medical professionals to have concussion education but differ on the need for education of athletes and guides. Athletes reported having little and poor quality concussion education. Future investment in the provision of specially trained on-site medical support is needed to ensure the safety and well-being of VI para athletes. Education strategies should prioritize informing para athletes of the potential long-term consequences of concussion, so they understand the significance of failing to report concussion symptoms and of neglecting concussion injury protocol
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