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Dissertations / Theses on the topic 'Intellectual disability Genetic aspects'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

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1

Murray, Aoife Maureen. "Investigating the role of ZDHHC9 in intellectual disability." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648223.

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2

Morgan, Vera Anne. "Intellectual disability co-occurring with schizophrenia and other psychiatric illness : epidemiology, risk factors and outcome." University of Western Australia. School of Psychiatry and Clinical Neurosciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0209.

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(Truncated abstract) The aims of this thesis are: (i) To estimate the prevalence of psychiatric illness among persons with intellectual disability and, conversely, the prevalence of intellectual disability among persons with a psychiatric illness; (ii) To describe the disability and service utilisation profile of persons with conjoint disorder; (iii) To examine, in particular, intellectual disability co-occurring with schizophrenia; and (iv) To explore the role of hereditary and environmental (specifically obstetric) risk factors in the aetiology of (i) intellectual disability and (ii) intelle

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3

Watts, Graeme H. "Intellectual disability and spirituality." Thesis, The University of Sydney, 2006. https://hdl.handle.net/2123/27915.

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Intellectual disability, and in particular profound intellectual disability, has an impact on all aspects of a quality of life including that of spiritual development. Some insight into this influence can be gained from a historical review of the attitudes in general towards people with an intellectual disability. Such a review may be especially pertinent when inferences can be drawn from a religious context. References from the Bible through to contemporary sources present, at best, a mixed record. Contemporary responses from the church have taken the form of policies and guidelines

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4

Mattioli, Francesca. "Identification of novel genetic causes of monogenic intellectual disability." Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ035/document.

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La déficience intellectuelle (DI) est une trouble du neuro développement caractérisée par une extrême hétérogénéité génétique, avec plus de 700 gènes impliqués dans des formes monogéniques de DI. Cependant un nombre important de gènes restent encore à identifier et les mécanismes physiopathologiques de ces maladies neuro développementales restent encore à comprendre. Mon travail de doctorat a consisté à identifier de nouvelles causes génétiques impliquées dans la DI. En utilisant différentes techniques de séquençage de nouvelle génération, j’ai pu augmenter le taux de diagnostic chez les patie

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5

Zhao, Jin. "Sequence based identification of genetic variation associated with intellectual disability." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-326283.

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Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic variation in ID patients. The main focus of this thesis is to use whole exome sequencing (WES) and whole genome sequencing (WGS) to identify pathogenic variants in undiagnosed ID patients. In Paper I, WES was used in family trios to identify pathogenic DNVs in patients diagnosed with ID in combination

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6

Burbidge, Cheryl A. "The assessment of hyperactivity in genetic syndromes associated with intellectual disability." Thesis, University of Birmingham, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422778.

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7

Pia, Bruno Lucia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220415.

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Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier diagnostic

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8

Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220435.

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Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d

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9

Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220439.

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Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d

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10

Al, Amri Ahmed Hamed Hamood. "Genetic basis of intellectual disability and schizophrenia in selected Omani and UK families." Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18055/.

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Intellectual disability (ID) is devastating condition which is defined using three criteria: reduced intellectual ability, deficit in two or more adaptive behaviours, and diagnosis before the age of 18 years. ID can have various causes, but genetic factors are thought to be responsible for up to 50% of cases. ID is a heterogeneous and complex disorder, and more than 800 genes have been implicated in its pathology. Schizophrenia (SZ) is another complex neurodevelopmental condition that also affects the brain and has a partially overlapping genetic basis with ID. This thesis describes work carri

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11

Lutter, Andrea Elizabeth. "The Impact of Rosa's Law on Describing Persons with Intellectual Disability." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1398193968.

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12

Turnbull, David John. "Towards a collaborative ethic in intellectual disability services." Thesis, Queensland University of Technology, 1998.

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This thesis examines collaboratively impoverished frameworks currently existing in services, and then presents a framework within which it is possible to work towards an ethically informed, collaborative engagement between people who have as a common interest, a person with an intellectual disability. The thesis explores three themes that are of great significance to both service providers and other participants in their relation to people with intellectual disability - those of personal identity, advocacy and self-advocacy. The relative impotence of service providers in being able to deal wit

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13

Casha, Sonja. "Speaking of angels : intellectual disability, identity and further education in Malta." Thesis, University of Birmingham, 2016. http://etheses.bham.ac.uk//id/eprint/6601/.

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The number of students with intellectual disabilities who continue studying past compulsory education in Malta is abysmal. This has spurred the choice of my research which aims to identify the factors that affect this phenomenon. This study uses first-hand accounts by individuals with intellectual disabilities on their experience of further education (FE) in Malta and attempts to highlight the associated benefits and barriers experienced. The results of this study have shown that although factors affecting FE inclusion in Malta are varied, the participants of the study focused primarily on the

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14

Shaw, Rebecca. "Hyperactive, impulsive, distractible and inattentive behaviour in children with genetic syndromes associated with intellectual disability." Thesis, University of Birmingham, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485988.

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15

Andrew, Erin H. "Parental Experiences When CMA is Ordered by a Geneticist vs. Non-geneticist." University of Cincinnati / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1491305824301482.

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16

Pinto, Irene Plaza. "A importância dos resultados do CMA no aconselhamento genético das famílias com probandos apresentando deficiência intelectual." Pontifícia Universidade Católica de Goiás, 2015. http://localhost:8080/tede/handle/tede/2385.

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Made available in DSpace on 2016-08-10T10:38:52Z (GMT). No. of bitstreams: 1 IRENE PLAZA PINTO.pdf: 6549908 bytes, checksum: 3185800a3487b8801d64b261984cf289 (MD5) Previous issue date: 2015-02-10<br>Intellectual disability is characterized by a significant decrease in both cognitive and adaptive functions, affecting 1-3% of the general population. Worldwide is a major socioeconomic problem, with a highly heterogeneous and variable etiology, which may include environmental factors, disorders Mendelian and chromosomal abnormalities, presented alone or in combination. Single gene and chromosoma

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17

Chanias, Angelos. "The effects of exercise programming on health-related physical fitness of individuals with an intellectual disability : a meta-analysis of studies." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/MQ29535.pdf.

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18

Joelle, Dountio Ofimboudem. "The protection of traditional knowledge: challenges and possibilities arising from the protection of biodiversity in South Africa." University of the Western Cape, 2011. http://hdl.handle.net/11394/2887.

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Magister Legum - LLM<br>Traditional Knowledge (TK) is the long standing wisdom, teachings and practices of indigenous communities which have been passed on orally, in the majority of cases, from generation to generation. TK is expressed in the form, medicine, agriculture, understanding of the ecology, music, dance, stories, folklore, poetry, spiritual, cultural and artistic expressions, and knowledge relating to bio-diversity. This thesis focuses on plant bio-diversity, as part of TK, and the problem of bio-piracy. We attempt a definition of TK; its characteristics; possible measures that can

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19

Mason, Nicholas Craig. "Forging a New Global Commons Introducing common property into the global genetic resource debate." Thesis, University of Canterbury. School of Political Science and Communication, 2004. http://hdl.handle.net/10092/904.

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This thesis provides an analysis of recent attempts to regulate the governance of genetic resources through the initiation of new global commons regimes. These attempts have arisen out of a combination of the growing recognition of genetic resources' value and global nature; a new resurgence in support for the common property paradigm; and, during a period in which the world is becoming increasingly globalised, with many governance competencies moving to the supranational level. They can be viewed as part of a broader effort to proffer the common property approach as a legitimate alternative i

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20

McAllister, J. N. "The employment experiences of an adult with Down Syndrome." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/2870.

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Thesis (MEdPsych (Educational Psychology)--Stellenbosch University, 2008.<br>The research aims to investigate the employment experiences of a South African adult with Down syndrome, and to explore whether this improves the quality of life for this adult across several areas of functioning. This qualitative research design is situated within an interpretive research paradigm. A Case study method was used. Data have been produced using multiple sources and techniques to enhance validity. These include interviews, observation, field notes and questionnaires. Full account has been taken of ethica

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21

Engel, Camille. "Description phénotypique de formes rares de trouble du développement intellectuel et caractérisation des mécanismes moléculaires impliqués." Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCE006.

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L’avènement des nouvelles techniques de séquençage a permis d’augmenter de façon considérable le taux diagnostique des troubles du développement intellectuel (TDI) et plus de 2000 gènes impliqués sont aujourd’hui connus. Malgré ces progrès considérables, l’interprétation des variants identifiés par les techniques de séquençage reste parfois difficile et l’histoire naturelle des TDI nouvellement décrits est souvent méconnue. Notre travail a consisté à étudier quatre formes de TDI rares de modes de transmissionvariés sur les plans clinique et génétique afin de mieux comprendre ces affections et

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22

Piazzon, Flavia Balbo. "Investigação clínica e citogenética molecular em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5144/tde-24032016-145538/.

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Introdução: Com a sofisticação das técnicas de análise do DNA, a medicina moderna tem à sua disposição boas possibilidades para elucidar quadros clínicos indefinidos em pacientes que possuem microrrearranjos cromossômicos complexos. O desenvolvimento da técnica de MLPA (Multiplex ligation-dependent probe amplification) aliado à tecnologia dos arrays (WGAS - whole genome array screening) possibilitou analisar de uma só vez, diferentes regiões de interesse clínico no genoma humano. Objetivo: O presente trabalho teve como objetivo estudar pacientes com atraso de desenvolvimento neuropsicomotor (A

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23

Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.

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Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et

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24

Belarde, James Anthony. "Development of a mouse model of a novel thin lissencephaly variant." Thesis, 2021. https://doi.org/10.7916/d8-t4g7-s810.

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The human neocortex is a highly sophisticated and organized brain structure that is thought to mediate some of the most complex cognitive functions in humans including language and abstract thought. As such, environmental and genetic insults to its normal structure or function can result in devastating neurological conditions including severe epilepsy and intellectual disability. Malformations of cortical development are an increasing collection of disorders that cause neocortical abnormalities due to impaired developmental processes. One recently identified disorder in this class is a thin li

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25

Lopes, Fátima Daniela Teixeira. "Deciphering the genetic basis of intellectual disability through unbiased genomic approaches." Doctoral thesis, 2017. http://hdl.handle.net/1822/48636.

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Tese de Doutoramento em Ciências da Saúde<br>Neurodevelopmental disorders arise in childhood and are life-long condition that represents many challenges to the patients, their families and society, through public services. Among those, intellectual disability affects 1% of the population in developed countries, encompassing the most common group of neurodevelopmental disorders. Intellectual disability is characterized by cognitive impairment and limitation in functioning capacity and can be cause by exogenous factors (such as maternal alcohol abuse during pregnancy, infections and malnutr

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26

Munson, Adrianna. "Working on Life: Autonomy and Dependence for People with Intellectual Disability." Thesis, 2021. https://doi.org/10.7916/d8-dq96-gp02.

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Traditional conceptions of autonomy, which highlight the separation of the individual from the social forces around them, contradict a core assumption of sociological thought: that the individual is embedded in society. What then are we to make of autonomy’s cultural power to structure a person’s relationships and commitments? Moreover, how do people maintain autonomous social identities despite the dependencies that structure modern life? I explore these questions through ethnographic inquiry of the daily negotiation of carework and autonomy at an independent living community for adults with

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27

Noor, Abdul. "Molecular Genetic Study of Autism and Intellectual Disability Genes on the X-chromosome." Thesis, 2012. http://hdl.handle.net/1807/32783.

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Autism is a neurodevelopmental disorder with an estimated prevalence of 1 in 150 children which makes it more common than childhood cancer and juvenile diabetes. It is estimated that there are more than 100,000 individuals affected by autism in Canada and tens of millions worldwide. It is well established that genetic factors play important role in the pathophysiology of autism; still, our current understanding of these genetic factors is limited and cause of autism remains an important question. During the past decade, after completion of human genome, several new high throughput genome scan

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28

VECCHIO, DAVIDE. "Neurodevelopmental genetic drivers of the human 22q11.2 region." Doctoral thesis, 2019. http://hdl.handle.net/11573/1284700.

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Despite substantial progress have been made to understand the wide spectrum of congenital anomalies and birth defects associated with 22q11.2 segmental aneuploidies, the highest comorbidity rate for neurodevelopmental disorders (NDDs) has been also recently showed in this cohort compared to any other genetic conditions. To further define, hence to experimentally confirm, the pivotal neurodevelopmental role of the 22q11.2 region we applied different approaches to identify those genes whose impairment may not only impinge on 22q11.2 rearrangements’ medical history as modifying factors, but that

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29

Meredith, Jo. "Programmed generalization of reduced tantrum behaviors in epilepsy with severe intellectual disability." Master's thesis, 1990. http://hdl.handle.net/1885/141411.

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30

"Inherited metabolic diseases in Hong Kong." Chinese University of Hong Kong, 1995. http://library.cuhk.edu.hk/record=b5888258.

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Lai Ching Ha.<br>Thesis (Ph.D.)--Chinese University of Hong Kong, 1995.<br>Includes bibliographical references (leaves 225-243).<br>Title --- p.1<br>Abstract --- p.2<br>Acknowledgments --- p.4<br>Contents --- p.5<br>Abbreviations --- p.10<br>List of Figures --- p.12<br>List of Tables --- p.15<br>Chapter Chapter 1 --- Review on Inherited Metabolic Diseases --- p.18<br>Chapter 1.1 --- Development of the concept of inherited metabolic diseases (IMD) --- p.18<br>Chapter 1.2 --- Frequency of inherited metabolic diseases --- p.20<br>Chapter 1.3 --- Molecular basis of mutations in inherited

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31

Chen, Pin-Hsuan, and 陳品萱. "Identification of genetic aberrations in children with global developmental delay/ intellectual disability through detecting DNA copy number changes and whole exome sequencing." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/x9mhcg.

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碩士<br>國立陽明大學<br>生命科學系暨基因體科學研究所<br>107<br>Developmental delay (DD) describes the condition when a child reaches developmental milestones in cognitive, speech/language, fine/gross motor, emotional, social/personal skills and activities of living later than the expected time during infancy and early childhood. Multiple factors may contribute to such delay. Intellectual disability (ID) may also be reflected as DD in early childhood. Clinically, when evaluating a child during early intervention, the pediatrician may consider the probability of genomic aberrations after ruling out socio-psychologica

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32

Gardner, Anita. "The experience and feasibility of an emotion-based intervention for autistic adolescents with a mild intellectual disability : an explorative pilot study." Thesis, 2019. http://hdl.handle.net/1959.7/uws:56541.

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Autistic adolescents with co-occurring intellectual disability have significantly more mental health disorders than their typically developing peers. Proxy reports suggest that poor emotions competence is a key risk factor in developing mental health disorders, but there are no evidence-based emotions-focused interventions designed specifically for this population. The aim of this mixed-method study was to investigate the lived experience of four autistic adolescents with mild intellectual disability who participated in the first clinical pilot of a co-designed emotion-based intervention, adap

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33

Mucha-Le, Ny Bettina E. "Clarification of the role of the TBC1D24 gene in human genetic conditions." Thesis, 2020. http://hdl.handle.net/1866/25193.

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Des variants pathogéniques du gène TBC1D24 sont associés à des maladies génétiques dont la majorité sont transmises d’une façon autosomique récessive. Les phénotypes sont variables en termes de présentation clinique et de sévérité. Les formes les plus sévères causent une encéphalopathie épileptique (EIEE16) ou le syndrome DOORS qui est marqué par une surdité, des anomalies des ongles et des doigts, un déficit intellectuel et des convulsions qui sont souvent difficiles à contrôler. D’autres formes d’épilepsie incluent EPRPDC (Rolandic epilepsy with paroxysmal exercise-induce dystonia and writer

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O'Grady, Lynette. "The world of adolescence : using photovoice to explore psychological sense of community and wellbeing in adolescence with and without an intellectual disability." Thesis, 2008. https://vuir.vu.edu.au/1575/.

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Adolescence is considered a time of change and, to some extent, upheaval. Psychological Sense of Community has been utilised as a framework for understanding adolescents’ experiences in their communities. The present study explored the experiences of 10 adolescents from two urban schools in eastern Australia, a specialist school for students with a mild intellectual disability, and a mainstream school. Using Photovoice, an ethnographic research method utilising photographs generated by the research participants as the primary data source, the participants were actively engaged in taking photo

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Dountio, Ofimboudem Joelle. "The protection of traditional knowledge: challenges and possibilities arising from the protection of biodiversity in South Africa." Thesis, 2011. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_9133_1363011819.

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