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Dissertations / Theses on the topic 'Genetic disorders in children'

Author: Grafiati

Published: 4 June 2021

Last updated: 29 July 2024

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1

Robinson, Sally Jane. "Semantic knowledge representation and access in children with genetic disorders." Thesis, University of Essex, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435580.

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2

Bava, Sunita. "Reduced microstructural white matter integrity in a genetic metabolic disorder a diffusion tensor MRI study /." Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2007. http://wwwlib.umi.com/cr/ucsd/fullcit?p3274808.

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Thesis (Ph. D.)--University of California, San Diego and San Diego State University, 2007.<br>Title from first page of PDF file (viewed January 8, 2008). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 75-84).

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3

Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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4

Ichikawa, Shoji. "The molecular genetic analysis of three human neurological disorders." free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.

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5

Winslow, Hayley R. "Pre- and Post-Test Parent Perceptions of Genetic Testing for Children with Autism Spectrum Disorder (ASD)." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492505122437373.

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6

Komulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.

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Abstract Novel genetic aetiologies for epileptic encephalopathies and movement disorders have been discovered by using next-generation sequencing methods. The phenotypic and genotypic variability in these conditions is very wide. The aim of this study was to discover novel genetic causes and phenotypes of childhood-onset drug-resistant epilepsy and epileptic or developmental encephalopathies that occur separately or together with movement disorders, and familial movement disorders. Furthermore, the use of whole-exome sequencing (WES) as a diagnostic tool in clinical practice was evaluated. Alt

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7

Gaonkar, Shraddha. "Challenges in counseling for rare chromosome conditions genetic counselors' perspective /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23239.

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8

Carlisle, Kathleen Walker. "School Factors Related to the Social and Behavioral Success of Children and Adolescents with Tuberous Sclerosis: Special Education Placement, Services, and Parental Involvement." [Tampa, Fla.] : University of South Florida, 2003. http://purl.fcla.edu/fcla/etd/SFE0000154.

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9

Kovac, Ilija. "Genetic epidemiology and phenotypic resolution of complex traits : studies in specific language impairment and alcoholism." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36974.

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Rationale. Definition of complex behavioral disorders is generally phenomenological in nature and guided by pragmatic, rather than genetic, concerns. Consequently, important aspect of genetic analysis is the search for novel phenotypic definitions from the familial/genetic perspective. SLI study 1. SLI denotes an inability to acquire normal language in the absence of peripheral hearing impairment, neurological disorder, and mental retardation. Sibling resemblance for several theoretically derived specific components of the SLI phenotype was examined in families of SLI children. In 38 sib-pairs

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10

Holt, Erika Tyne. "Perceptions of Severity of Children's Bleeding Disorders: Impact on Parental Quality of Life and Reproductive Decisions." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1383060340.

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11

Klaver, Jacqueline Marie. "Psychological and Genetic Contributions to the Development of Social Cognition in Children." OpenSIUC, 2014. https://opensiuc.lib.siu.edu/dissertations/957.

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This study examined the development of social cognition in children with and without autism spectrum disorder (ASD), as well as the influence of behavioral and molecular genetics on these higher-order cognitive abilities. Specifically, it was hypothesized that children with ASD would perform more poorly on all social cognitive tasks compared with typically developing peers. In addition, it was hypothesized that typically developing children who performed better on a simpler social cognitive task at ages 3 or 4 would perform better at follow-up (i.e., one time between the ages of 6-10). Lastly,

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12

Soliman, Ashraf. "Study of growth and bone mineral density and factors affecting them in children and adolescents with thalassaemia major and sickle cell disease." Thesis, University of South Wales, 1998. https://pure.southwales.ac.uk/en/studentthesis/study-of-growth-and-bone-mineral-density-and-factors-affecting-them-in-children-and-adolescents-with-thalassaemia-major-and-sickle-cell-disease(9cd79851-b7a7-4df7-bb2d-65e71e48d6c4).html.

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Thalassaemia and sickle cell disease (SCD) are the most widely distributed blood genetic disorders that occur at a high frequency in some populations including the Mediterranean region, parts of the Middle East, South East Asia and the Indian subcontinent. It is estimated that thalassaemia major affects 100,000 newborn every year world-wide. The high incidence of these chronic haemolytic diseases in developing countries poses a high load on the national economy because of the expensive treatment protocols and the considerably high morbidity rates of these patients. Repeated blood transfusion t

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13

Worgan, Lisa Catherine Women &amp Children's Health UNSW. "The role of nuclear-encoded subunit genes in mitochondrial complex 1 deficiency." Awarded by:University of New South Wales. Women and Children's Health, 2005. http://handle.unsw.edu.au/1959.4/22307.

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BACKGROUND: Mitochondrial complex I deficiency often leads to a devastating neurodegenerative disorder of childhood. In most cases, the underlying genetic defect is unknown. Recessive nuclear gene mutations, rather than mitochondrial DNA mutations, account for the majority of cases. AIM: Our aim was to identify the genetic basis of complex I deficiency in 34 patients with isolated complex I deficiency, by studying six of the 39 nuclear encoded complex I subunit genes (NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS7 and NDUFS8). These genes have been conserved throughout evolution and carry out essentia

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14

MARZOCCHI, GIAN MARCO. "Executive Function and Attention Profiles of Children with ADHD and / or Reading Disorder: Developmental Neuropsychology and Genetic Contributions." Doctoral thesis, SISSA - Trieste, 2006. http://hdl.handle.net/10281/24294.

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The object of this study was to analyze Attention and EF in children with ADHD and/or Reading Disability. Four groups of children aged between 7 and 12 years (38 ADHD-only, 39 RD-only, 17 ADHD+RD and 37 Normal Controls) were tested Energization Processing, Executive Functioning (Inhibition, Set-shifting, Strategy Application and Verbal Fluency) and Episodic Memory. Children with ADHD-only may present a double deficit of Energization and Strategy Application. Energization and Inhibition deficit shown by children with RD-only are putatively derived from their verbal processing impairment. Childr

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15

Fung, Hon Chung. "Genetic characterisation of neurodegenerative disorders." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/4930/.

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Our global population is ageing and an ever increasing number of elderly are affected with neurodegenerative diseases, including the subjects of the studies in this work, Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). On strong evidence that several genes may influence the development of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseas

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16

Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.

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Background: Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of making the diagnosis accurately early in the course and the lack of reliable disease progression markers which could be used in future treatment trials. Transcranial magnetic stimulation (TMS) is a non-invasive and pain-free method for assessment of brain function. Methods: Here we evaluated TMS and its potential of serving as a reliable bioma

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17

Migdalska, Anna Marta. "Modelling human genetic disorders in mice." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610341.

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18

Kalantari-Darani, Mehrdad. "Conduct disorders in preschool children." Thesis, King's College London (University of London), 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.241820.

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19

Boggs, Teresa. "Eating Disorders in Young Children." Digital Commons @ East Tennessee State University, 2015. https://dc.etsu.edu/etsu-works/1507.

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20

Elangovan, Saravanan. "Auditory Processing Disorders in Children." Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/1577.

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21

Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.<br>Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).

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22

Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variat

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23

Valente, Enza Maria. "Movement disorders : a clinical and genetic study." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.

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24

Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide

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25

Liskova, P. "Molecular genetic study of inherited corneal disorders." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18007/.

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The inherited corneal diseases form a clinically and genetically heterogeneous group of disorders. They include the various types of progressive corneal dystrophies as well as some corneal structural abnormalities for which there is thought to be a genetic basis. These conditions are distinct from the corneal degenerations that result solely from aging or environmental effects. In this thesis I have concentrated on some selected inherited disorders. To try to improve our understanding of the disease mechanisms I have phenotyped affected families, performed candidate gene screening, and made ge

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26

Chen, Huijia. "Skin barrier dysfunction in common genetic disorders." Thesis, University of Dundee, 2011. https://discovery.dundee.ac.uk/en/studentTheses/37ccdf72-e6b2-43e2-b5a0-954be5cb6811.

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One of the most important roles of the skin is the formation of an effective barrier to prevent desiccation as well as to keep out foreign pathogens and allergens. This is a tightly regulated process and involves many structural proteins, lipids, enzymes and biochemical components. One of the proteins that has an indispensable role in barrier formation is filaggrin, which is encoded by the filaggrin gene (FLG) that lies within a cluster of epidermal genes known as the epidermal differentiation complex (EDC) on chromosome 1q21. Recent studies in Europe have shown that null mutations in FLG lead

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27

Wallis, Colin E. "Genetic disorders on the island of Mauritius." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/26606.

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Inherited disorders are an important cause of physical handicap, deafness, mental retardation and blindness. There is considerable variation in the geographic and ethnic distribution of genetic disease due to biological pressures and historical accidents. In this context the relative prevalence of common inherited disorders and the recognition of rare conditions in isolated communities is of great academic importance. Oceanic islands are of special significance in the study of inherited disease. Virtually nothing has been documented concerning genetic disorders on the Island of Mauritius with

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28

Kumar, Kishore Raj. "Advances in genetic studies for movement disorders." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12129.

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Aims: We investigated the genes causing Parkinson disease (PD), dystonia and hereditary spastic paraplegia (HSP). Methods: We performed Sanger sequencing of the GBA, VPS35, PRRT2 and GNAL genes. We sought to identify the cause of ‘hereditary whispering dysphonia’ (DYT4). We investigated a consanguineous Pakistani family with a complex neurological phenotype using next generation sequencing (NGS). We also used ‘targeted’ NGS to screen for a genetic diagnosis in patients with HSP. Results: The findings were as follows; i) GBA mutations were associated with increased susceptibility to PD in a S

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29

Goncalves, Pontes Jacinto Joana <1994&gt. "New perspectives of genetic disorders in cattle." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2022. http://amsdottorato.unibo.it/10418/1/jacinto_joana_tesi.pdf.

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In the last decades a negative trend in inbreeding has accompanied the evident improvement in productivity and performance of bovine domestic population, predisposing to the occurrence of recessively inherited disorders. The objectives of this thesis were: a) the study of genetic diseases applying a “forward genetic approach” (FGA); b) the estimation of the prevalence of deleterious alleles responsible for eight recessive disorders in different breeds; c) the collection of well-characterized materials in a Biobank for Bovine Genetic Disorders. The FGA allowed the identification of sev

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30

Shaker, Nuha. "Examining the Influence and Role of Pharmacogenetics among Children with Autism Spectrum Disorder." TopSCHOLAR®, 2017. https://digitalcommons.wku.edu/theses/2037.

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Pharmacogenetics is the study of genomic-guided individualized drug prescription that plays an important role in preventing the severe adverse effects of drugs, decreasing the time and cost of therapeutic choices, and directing healthcare professionals to choose medications that are effective and safe. It is noteworthy that this approach becomes highly beneficial in patients suffering from chronic diseases or disorders, since these conditions may require multiple and long term pharmacological therapies, as in children with autism spectrum disorder (ASD). However, public acceptance is a major c

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31

Ng, Kwok-keung Daniel. "Sleep related breathing disorders in children /." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36223724.

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32

Ng, Kwok-keung Daniel, and 吳國強. "Sleep related breathing disorders in children." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B45007688.

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33

McClean, Patricia. "Studies into diarrhoeal disorders in children." Thesis, Queen's University Belfast, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.335969.

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34

Trickett, Jayne K. "Sleep in children with neurodevelopmental disorders." Thesis, University of Birmingham, 2018. http://etheses.bham.ac.uk//id/eprint/8328/.

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Profiles of sleep disturbance and sleep quality of children with the specific neurodevelopmental disorders of Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC) and the relationships between behavioural and health characteristics, age and sleep were described in these groups. Interview data demonstrated that children with AS's sleep disturbance had a negative impact on both parents and children. A homogeneous sleep disturbance profile of severe night waking and early morning waking affected over 70% of children with SMS but

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35

Dotson, Deborah, Michelle Johnson, and Christy Isbell. "Treating Children With Sensory Processing Disorders." Digital Commons @ East Tennessee State University, 2020. https://dc.etsu.edu/etsu-works/8281.

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36

Ekvall, Sara. "Genetic and Clinical Investigation of Noonan Spectrum Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183325.

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Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. In the first family, the index patient presented with severe Noonan syndrome (NS) and multiple café-au-lait (CAL) spots, while four additional family members displayed multiple CAL spots only. Genetic analysis of four RAS-MAPK genes revealed a de novo PTPN11 mutation and a paternally inherited NF1 mutation, which could explain the atypi

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37

Dixon, Peter Hendy. "Molecular genetic studies of hypophosphataemic and hypoparathyroid disorders." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322579.

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38

Doran, Graeme Paul. "Functional and genetic analysis of human neurological disorders." Thesis, University of Oxford, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543472.

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39

Jarman, Paul Richard. "A molecular genetic study of inherited movement disorders." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154.

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40

Warner, Thomas Treharne. "A molecular genetic study of inherited movement disorders." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.285185.

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41

Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a nov

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42

Li, M. Y. "The genetic and pathological correlations of ataxic disorders." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1404013/.

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This thesis will examine several pure and complex ataxic conditions with a focus on the genetic and neuropathological characterisation of these disorders. These disorders include Hallervorden Spatz syndrome (HSS), infantile neuroaxonal dystrophy (iNAD) both disorders are part of the neurodegeneration with brain iron accumulation (NBIA) spectrum. Mutations in the pantothenate kinase 2 (PANK2) and phopholipase A2 group 6 (PLA2G6) genes contribute to these disorders, respectively. The latter half of the thesis discusses the movement disorders known as the spinocerebellar ataxias (SCAs) with a foc

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43

Maison, Patrick Opoku Manu. "Genetic basis of human disorders of gonadal development." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/28015.

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South Africa is unique in the arena of Intersex, in that for unknown reasons we have a very high percentage of ovotesticular DSD (True Hermaphrodite). Whereas ovotesticular DSD is the least common cause of hermaphroditism in other parts of the world, it is the most common cause of hermaphroditism in South Africa. There have been several studies in the past to determine the cause of ovotesticular DSD in our population but none of these studies found appropriate answers. The current state of understanding implicates signaling and signal transduction molecules and transcription factors suggesting

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44

Modi, Bhavi P. "GENETIC AND EPIGENETIC MECHANISMS OF COMPLEX REPRODUCTIVE DISORDERS." VCU Scholars Compass, 2016. http://scholarscompass.vcu.edu/etd/4574.

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Common, complex disorders are polygenic and multifactorial traits representing interactions between environmental, genetic and epigenetic risk factors. More often than not, contributions of these risk factors have been studied individually and this is especially true for complex reproductive traits where application of genomic technologies has been challenging and slow to progress. This thesis explores the potential of genetic and epigenetic components contributing to a better understanding of the biological pathways underlying disease risk in two specific female complex reproductive traits -

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45

Ylönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.

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Abstract Parkinson’s disease and Huntington’s disease are progressive neurodegenerative movement disorders that typically manifest in adulthood. In this study, genetic risk factors contributing to these two movement disorders were investigated in Finnish patients. Patients with early-onset or late-onset Parkinson’s disease as well as population controls were examined. The p.L444P mutation in GBA was found to contribute to the risk of Parkinson’s disease. POLG1 compound heterozygous mutations were detected in two patients with Parkinson’s disease and rare length variants in POLG1 were associate

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46

ANNUNZIATA, SILVIA. "Genetic and phenotypic characterization of Autism Spectrum Disorders." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1452943.

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47

Crowe, Barbara Jean. "Attitudes of adults and children toward children with mild articulation disorders." The Ohio State University, 1987. http://rave.ohiolink.edu/etdc/view?acc_num=osu1335455941.

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48

Crowe, Barbara J. "Attitudes of adults and children toward children with mild articulation disorders /." The Ohio State University, 1987. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487331541708093.

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49

Ng, Kwok-hang Ashley. "Phonological processing in children with speech disorders." Click to view the E-thesis via HKUTO, 1995. http://sunzi.lib.hku.hk/hkuto/record/B36209193.

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Thesis (B.Sc)--University of Hong Kong, 1995.<br>"A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, April 28, 1995." Also available in print.

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50

Hus, Yvette. "Central auditory processing disorders in minority children." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0007/NQ39797.pdf.

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