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Tesi sul tema "Down syndrome"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 25 luglio 2025

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1

Nehring, Wendy M., and Cecily L. Betz. "Down Syndrome." Digital Commons @ East Tennessee State University, 2010. https://dc.etsu.edu/etsu-works/6712.

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Book Summary: Nurses play a key role in high-quality health care for people with intellectual and developmental disabilities (IDD)--and now this up-to-date textbook fully prepares them to provide patients with the best possible services across the lifespan. The most comprehensive text available for nurses who specialize in IDD, this essential book clarifies evidence-based practices and gives readers an integrated, interdisciplinary approach to care that meets each person's individual needs. Cecily Betz and Wendy Nehring--authors of the respected text Promoting Health Care Transitions for Adole
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2

Nehring, Wendy M. "Down Syndrome." Digital Commons @ East Tennessee State University, 2009. https://dc.etsu.edu/etsu-works/6715.

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Written by nurse practitioners for nurse practitioners, this one-of-a-kind resource provides the expert guidance you need to provide comprehensive primary care to children with special needs and their families. It addresses specific conditions that require alterations in standard primary care and offers practical advice on managing the major issues common to children with chronic conditions. A consistent format makes it easy to locate essential information on each condition. Plus, valuable resources help you manage the issues and gaps in health care coverage that may hinder quality care.
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3

Landry, Oriane. "Executive function in Down syndrome." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79785.

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Persons with Down syndrome and MA matched typically developing children were tested on two measures each of hot and cool executive function (EF). Tasks were selected to be developmentally appropriate for mental ages between 3 and 6 years. Participants with Down syndrome performed at the same level as verbal mental age (VMA, M = 47.53 months) matched typically developing children on the Children's Gambling Task (Kerr & Zelazo, 2001), a delay of gratification task (Thompson, Barresi, & Moore, 1997) the Dimensional Change Card Sort (DCCS; Frye, Zelazo, & Palfai, 1995), and the Self-Ordered
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4

Bergström, Charlotta, and Linda Englin. "Föräldrars erfarenheter av stöd från sjukvårdspersonal när deras barn diagnostiserats med Downs syndrom under det första levnadsåret : En litteraturstudie." Thesis, Högskolan i Gävle, Medicin- och vårdvetenskap, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-22801.

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Abstract (sommario):
Background: Down syndrome (DS) is the most common cause of intellectual disability in children. The child has an extra chromosome in the 21st chromosome pair. It is important that the nurse is comfortable within their own field of knowledge in order to give every individual the specific care they need. Becoming a parent is a major event in people's lives and it can be fraught with joy and anxietya bout the future. Aim: The aim of this literature review was to describe parents' experiences of support from the health care professionals when the child is born with DS and the experiences of suppor
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5

Landry, Thérèse. "Trisomie 21 : étude de consanguinité et d'apparentement au Saguenay Lac St-Jean /." Thèse, Chicoutimi : Ste-Foy : Université du Québec à Chicoutimi ;. Université Laval, 1997. http://theses.uqac.ca.

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6

Myrelid, Åsa. "Down syndrome : Growth and endocrine impact." Doctoral thesis, Uppsala universitet, Pediatrik, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-106756.

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Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction. Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. We developed growth charts specific for Swedish children with DS, in order to facilitate early diagnosis of concomitant diseases that influence growth. The growth charts are available for paediatricians and child health care professionals in Sweden. The mechanism underlying the impaired growth in DS is
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7

Niemimaa, M. (Marko). "First trimester screening for Down syndrome." Doctoral thesis, University of Oulu, 2003. http://urn.fi/urn:isbn:9514270290.

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Abstract The aim of the present study was to evaluate the efficacy of the first trimester screening for Down syndrome (DS) in an unselected low-risk Finnish population. The study involved 4,617 women who attended screening between the 8th and 14th weeks of pregnancy in 1998-2000. They gave a blood sample for the measurement of pregnancy associated plasma protein A (PAPP-A) and free beta human chorionic gonadotrophin (β-hCG). Of these women, 3,178 also had an ultrasound examination for the measurement of fetal nuchal translucency (NT). The risk figure for every screened woman was calculated usi
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8

Marttala, J. (Jaana). "First trimester screening and Down syndrome." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294815.

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Abstract The purpose of this study was to evaluate extended first trimester screening for severe chromosomal disorders and adverse pregnancy outcomes in singleton pregnancies among the general population in Finland. Maternal serum biochemical markers, pregnancy associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (fβ-hCG), and fetal nuchal translucency (NT) thickness were measured during the gestational weeks 8+0–13+6. A computerized risk figure program was used to calculate an individual risk figure for chromosomal disorders. It was investigated whether the screenin
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9

Baylis, Pamela J. "Reading in children with Down syndrome." Thesis, University of York, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428046.

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10

Gee, Courtney. "Down Syndrome and Self-esteem: the Media's Portrayal of Self-esteem in Characters Who Have Down Syndrome." Thesis, University of North Texas, 2012. https://digital.library.unt.edu/ark:/67531/metadc177198/.

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Representations of people with a developmental disability are virtually not covered in the media. Although there is little coverage of people with developmental disabilities in the media, there are a few entertainment television characters who have Down syndrome and are represented in the media. This study will take a look at the history of how people with disabilities were represented in the media and examine how two television characters with Down syndrome were portrayed on the shows by examining their self-esteem. This study seeks to focus on portrayal of people with Down Syndrome because t
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11

Kent, Annie. ""I am not Down syndrome" : a narrative exploration of life and identity in school-leavers with Down syndrome." Thesis, University of Birmingham, 2018. http://etheses.bham.ac.uk//id/eprint/8521/.

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Abstract (sommario):
Historically, there has been an effort to improve the inclusion of those with ‘disabilities’ including Down syndrome (DS). Societal perceptions of DS have been largely negative and may influence how individuals view their lives. Although there has been literature which has explored other people’s perspectives, there has been less which has asked those with DS to share their stories. The aim of the study was to explore the lived experiences and identity of four school-leavers with DS. A narrative approach was employed to elicit stories whilst participants were being recorded on film. A restoryi
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12

Ashworth, Anna Fiona. "Sleep and cognition in children with Down Syndrome and William's Syndrome." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/10020765/.

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This thesis provides a novel contribution to cognitive and developmental psychology by investigating the relationship between sleep, behaviour and cognition in 41 healthy typically developing (TD) children, 22 children with Down syndrome (OS) and 22 with Williams syndrome (WS). In addition, developmental changes in sleep and cognition, and the importance of sleep for consolidation of new memories were assessed in these groups. Finally, the influence of children's sleep and behaviour on their mothers' sleep and wellbeing were examined. The research used a battery of standardised and novel cogni
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13

Barr, Agholme Monica. "Periodontal disease in adolescents with Down syndrome /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3391X/.

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14

Hess, Brittany A. "Vocabulary Size in Children with Down Syndrome:." Digital Archive @ GSU, 2012. http://digitalarchive.gsu.edu/psych_theses/93.

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Children with Down Syndrome (DS) experience cognitive delays with language being one of the most impaired domains. Exploring the effects of congenital heart defects (CHD), hospitalization, hearing impairment, and parental concern can provide a more precise view of factors affecting language development. Participants were 49 children with DS, 22 to 54 months of age. Expressive and receptive vocabulary size was obtained using a word count with the MacArthur Communication Development Inventory (MCDI). Medical information was obtained from the child’s medical file. Results showed expressive vocabu
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15

Hitzig, Sander L. "Visual filtering in persons with Down syndrome." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33903.

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Abstract (sommario):
A forced-choice reaction time (RT) task was used to examine the efficiency of visual filtering (the inhibition of processing of irrelevant stimuli) and the concomitant ability to narrow the focus of the attentional lens in persons with Down syndrome (n = 10) and children of average intelligence (n = 13) matched for mental age (MA) (average MA = approximately 5.7 years). Conditions varied with regard to the presence or absence of distractors and their proximity to a target stimulus, and the presence or absence of a visual window within which the target stimulus was presented. Although the study
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16

Abdollahi, Sodabeh. "The socialisation of children with down syndrome." Thesis, University of Sussex, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.426207.

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17

Keller-Bell, Yolanda D. "Linguistic processing in chidren with Down Syndrome /." The Ohio State University, 2000. http://rave.ohiolink.edu/etdc/view?acc_num=osu1488203552778717.

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18

Czerminski, Jan T. "Modeling Down Syndrome Neurodevelopment with Dosage Compensation." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1037.

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Abstract (sommario):
Due to their underlying genetic complexity, chromosomal disorders such as Down syndrome (DS), which is caused by trisomy 21, have long been understudied and continue to lack effective treatments. With over 200 genes on the extra chromosome, even the specific cell pathologies and pathways impacted in DS are not known, and it has not been considered a viable target for the burgeoning field of gene therapy. Recently, our lab demonstrated that the natural mechanism of dosage compensation can be harnessed to silence the trisomic chromosome in pluripotent cells. Using an inducible XIST transgene all
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19

Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/1/Lomartire_Laura_tesi.pdf.

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Abstract (sommario):
Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th
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20

Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/.

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Abstract (sommario):
Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th
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21

Fontanesi, Elisa <1984&gt. "Epigenetic signature in persons with Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2015. http://amsdottorato.unibo.it/6821/1/fontanesi_elisa_tesi.pdf.

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Abstract (sommario):
Persons affected by Down Syndrome show a heterogeneous phenotype that includes developmental defects and cognitive and haematological disorders. Premature accelerated aging and the consequent development of age associated diseases like Alzheimer Disease (AD) seem to be the cause of higher mortality late in life of DS persons. Down Syndrome is caused by the complete or partial trisomy of chromosome 21, but it is not clear if the molecular alterations of the disease are triggered by the specific functions of a limited number of genes on chromosome 21 or by the disruption of genetic homeostasis
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22

Fontanesi, Elisa <1984&gt. "Epigenetic signature in persons with Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2015. http://amsdottorato.unibo.it/6821/.

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Abstract (sommario):
Persons affected by Down Syndrome show a heterogeneous phenotype that includes developmental defects and cognitive and haematological disorders. Premature accelerated aging and the consequent development of age associated diseases like Alzheimer Disease (AD) seem to be the cause of higher mortality late in life of DS persons. Down Syndrome is caused by the complete or partial trisomy of chromosome 21, but it is not clear if the molecular alterations of the disease are triggered by the specific functions of a limited number of genes on chromosome 21 or by the disruption of genetic homeostasis
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23

Ahumada, Saavedra José Tomás. "Craniofacial analysis of Down syndrome rodent models." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.

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Les altérations les plus fréquentes et les plus caractéristiques du syndrome de Down (SD) sont les troubles de l'apprentissage et la dysmorphie crâniofaciale (CF). Le phénotype CF comprend des dimensions réduites de la tête, une brachycéphalie, une région orbitale médio-latérale réduite, une largeur bizygomatique réduite, un petit maxillaire, une petite mandibule et une variabilité individuelle accrue. Jusqu'à présent, les mécanismes cellulaires et moléculaires qui sous-tendent ce phénotype CF restent inconnus. Cette thèse, utilisant un nouveau panel de modèles de rats et de souris, a proposé
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24

Lam, Yau-min, and 林宥冕. "Obstructive sleep apnea in children with Down syndrome: a systematic review." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48423786.

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While obstructive sleep apnea among children with Down syndrome is very common, the pre-existing risk factors and its impact to neurodevelopment are not well known. The aims and objectives of this systematic review are to determine the prevalence of OSA among DS children and to identify the associated risk factors. 6 articles that met the inclusion criteria were retrieved after using PubMed and Google Scholar in literature searching. The prevalence of OSA has great variation among different countries but are relatively high, ranging from 57% to 79%. OSA was significant associated with obesity
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25

Hill, Elizabeth Anne. "Prevalence and treatment of obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome." Thesis, University of Edinburgh, 2016. http://hdl.handle.net/1842/22917.

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Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome (DS) are predisposed to this as the DS phenotype overlaps with OSAHS risk factors. Around 2-4% of the general adult population and 55% of children with DS have OSAHS but, to date, no large-scale study has assessed OSAHS prevalence or efficacy of treatment in DS adults. This study aimed to: 1) Systematically assess subjective and objective OSAHS prevalence; 2) Assess the effectiveness of continuous positive
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26

Koenig, Katherine A. "PERFORMANCE ON ELEMENTARY COGNITIVE TASKS IN DOWN SYNDROME AND FRAGILE X SYNDROME." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1187138851.

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27

Larsson, Malin, and Caroline Käck. "Kärlek räknar inte kromosomer : En litteraturstudie om att leva med Downs syndrom ur ett föräldraperspektiv." Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-30064.

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Parents of children with Down syndrome have high demands on their parenting because of the care and needs of the child, which also applies throughout life. The purpose of this literature study was to invetigate parent's experiences of living with a child with Down syndrome. Based on the purpose of this study relevant keywords were chosen and used in the systematic searches. Four themes emerged after the processing and review of the result articles. These four themes were: anxiety, acceptability, challenges and support. the result showed that parents of children with Down syndrome felt concern
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28

Kanake, Sarah J. "Sing fox to me : an investigation into the "use" of Down Syndrome in both the Down Syndrome and Gothic novel." Thesis, Queensland University of Technology, 2014. https://eprints.qut.edu.au/75916/1/Sarah%20Kanake%20Thesis.pdf.

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This project investigates the current borders around and within, what I have in this exegesis termed, "the Down Syndrome novel", using a close reading analysis of literary texts containing characters with Down syndrome and contextualised by theoretical works drawn from both disability and literary theory. This practice-led thesis introduces and discusses select fictional characters with Down syndrome from numerous genres, revealing them as highly contained, or "boundaried", spoken for, and generally used for narrative conflict rather than included as individuals with agency and a legitimate, a
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29

Rahman, Amira. "Numerical abilities in children with Fragile X syndrome, Down syndrome and typically developing children : a cross syndrome perspective." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=83143.

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In the present study, performance on a range of mathematical reasoning and number processing tasks was assessed across two syndrome groups for which numerical ability is under-researched: Fragile X syndrome and Down syndrome. Given the paucity of current research, it was unknown whether all aspects of arithmetic and number processing would be globally affected across groups or whether there would be syndrome specific proficiencies and deficiencies. Statistical analysis revealed that males with fragile X syndrome performed significantly worse on all tasks even when performance was compar
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30

Leung, Kwong-ki. "Hearing loss in school children with down syndrome." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3798679X.

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31

Leung, Kwong-ki, and 梁廣基. "Hearing loss in school children with down syndrome." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3798679X.

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32

Hamburg, Sarah. "Resting-state EEG in adults with Down syndrome." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10048443/.

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Individuals with Down syndrome (DS) show a high degree of inter-subject variability in cognitive ability. Elucidating factors associated with variability in cognitive function can inform us about intellectual disability severity and potentially provide biomarkers of ability for clinical trials targeting cognition in individuals with DS (including trials aimed at preventing cognitive decline). Resting-state electroencephalography (EEG) can be used to obtain information about neural factors that may be underlying variability in cognitive function. This thesis uses eyes-open (EO; n=48) and eyes-c
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33

Ruparelia, A. H. "Axonal transport in mouse models of Down syndrome." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1395925/.

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Down syndrome (DS) is a complex condition resulting in the most common genetic form of intellectual disability. Trisomy of chromosome 21 in humans (Hsa21) causes DS, likely due to overexpression of some of the 500 genes on this chromosome. People with DS are more susceptible to early-onset Alzheimer Disease (AD), and the histopathological and endocytic perturbations that characterise AD are present at an earlier age in people with DS than the general population with AD. They also display aberrant dendritic spine morphology, which is associated with learning and memory deficits. The Ts65Dn mous
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34

Passarini, John Richard. "Motor skill development of children with Down syndrome." Thesis, Boston University, 2001. https://hdl.handle.net/2144/33533.

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Thesis (Ed.D.)--Boston University<br>This study was conducted for the purpose of determining the effectiveness of a home-based motor activity program on children with Down syndrome 6 to 10 years of age. Twenty-six children with Down syndrome and their respective families participated in this twelve-week study. The Circles Of Learning instructional program was created, and fieldtested. The Test of Gross Motor Development (TGMD) provided base-line data for measures of progress in fundamental motor skills. Parents were instructed in how to teach locomotor skills and object control skills as mea
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Sutter, Kimberlee Ann, and Kimberlee Ann Sutter. "Siblings of Children with Down Syndrome: Voices Hear." Diss., The University of Arizona, 2016. http://hdl.handle.net/10150/622942.

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The purpose of this study was to explore the meanings of the relationship of school-age siblings of brothers or sisters with Down syndrome in order to gain a greater understanding of the lived experience from the view point of the school-age sibling. Sibling spend more time together than any other family subsystem and siblings actively shape one another’s lives and prepare each other for future experiences. With children with Down syndrome living into their 60’s, the question regarding the sibling relationship is becoming an important focus due to the possible demands on the sibling to care
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36

Roy, Anindita. "The fetal pathogenesis of Down syndrome-associated leukaemias." Thesis, Imperial College London, 2011. http://hdl.handle.net/10044/1/12670.

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Children with Down syndrome (DS; trisomy 21) have markedly increased susceptibility to acute megakaryoblastic leukaemia (AMKL) and acute lymphoblastic leukaemia (ALL) which, at least for AMKL, have their origin in fetal life. My project aims to identify and characterise abnormalities in haematopoiesis in human fetal DS in order to understand how T21 leads to the increase in leukaemia susceptibility in DS. Since both AMKL and ALL are increased in DS, I first investigated the hypothesis that T21 perturbs the earliest multipotent progenitor (MPP) and/or haematopoietic stem cell (HSC) compartment
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Breslin, Jennifer H. "Sleep Disturbance, Cognition, and Behavior in Down Syndrome." Diss., The University of Arizona, 2011. http://hdl.handle.net/10150/201494.

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Abstract (sommario):
Children and adolescents with Down Syndrome (DS) have a high incidence of sleep problems, including Obstructive Sleep Apnea Syndrome (OSAS). They are also likely to have deficits in neuropsychological tasks tapping prefrontal function and hippocampal function. There has recent revival of literature suggesting an active role for sleep in memory consolidation and problem-solving in both children and adults. Furthermore, given the cognitive and behavioral sequellae of OSAS in typically developing children it is logical to test if the hypoxemia and increased sleep fragmentation, the two major p
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38

Boyd, Lee-Ann Michelle. "Selective attention and distractibility in children with Down syndrome." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=61282.

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Abstract (sommario):
The goal of this study was to examine selective attention and distractibility within the visual modality in children with Down syndrome as compared to children of normal intelligence matched for mental age. Selective attention was defined as the children's abilities to identify and respond to a target stimulus on a forced choice reaction time task. Distractibility was considered to be the extent to which the children's performances on the task were interfered with by extraneous stimuli in the visual field. Conditions on the task varied with regard to the presence or absence and location (close
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39

Kirchner, Rebecca. "Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome or Williams Syndrome." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1497867112162048.

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40

Saltvedt, Sissel. "Prenatal diagnosis in routine antenatal care : a randomised controlled trial /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-549-6/.

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41

Almstedt, Julia, and Petra Gustafsson. "Känslor hos föräldrar till barn med Downs syndrom : Skillnader mellan mödrar och fäder." Thesis, University of Gävle, Department of Caring Sciences and Sociology, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-3948.

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Abstract (sommario):
<p>Studien bygger på en sammanställning av tidigare insamlad och ej bearbetad data. Syftet med studien var att jämföra om det fanns några skillnader kring känslor hos mödrar och fäder till barn med Downs syndrom (DS). 80 mödrar respektive 79 fäder deltog i studien. De fick svara på en enkät gällande känslor under en tidsperiod på tre månader tillbaka. Barnens medelålder var 4,7 år då föräldrarna besvarade enkäten. Enkäten som användes i föreliggande studie bestod av 21 stycken känslouttryck som skulle skattas på en Visuell Analog Skala (VAS) från 0-10. Resultatet visade att mödrar och fäder ti
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42

Stevenson, Miriam. "Voices for change : exploring aspects of social citizenship alongside young adults who have down syndrome." Thesis, Faculty of Education and Social Work, 2011. http://hdl.handle.net/2123/13153.

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43

Catuara, Solarz Silvina 1986. "Neuroplasticity-targeted therapy for Down syndrome: a translational approach." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/523544.

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This Thesis aims at addressing the therapeutic potential of a neuroplasticity-targeted treatment for intellectual disability (ID) in Down syndrome (DS). The therapy consisted of the administration of the green tea catechin Epigallocatechin-3-gallate (EGCG), which is a natural modulator of Hsa21 candidate genes Dyrk1A and APP, in combination with cognitive stimulation. The assessment of the therapeutic efficacy of this intervention was performed using a translational approach, including preclinical studies with a mouse model of DS and clinical trials with humans with DS. In this work we show f
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Ho, Siu-lai Daphne. "Phonological deficits in Cantonese-speaking children with Down Syndrome." Click to view the E-thesis via HKUTO, 1997. http://sunzi.lib.hku.hk/hkuto/record/B36209442.

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Thesis (B.Sc)--University of Hong Kong, 1997.<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 30, 1997." Also available in print.
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Kelsey-Etmanski, Helen. "Support systems for parents of children with Down Syndrome." Thesis, University of British Columbia, 1986. http://hdl.handle.net/2429/26545.

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This study investigated the sources of support available to mothers of children with Down syndrome. Three levels of social interaction were examined: family support; informal support (friends and neighbours), and; formal support (professionals and social institutions). A questionnaire was circulated to thirty-two mothers of children with Down syndrome. The questionnaire surveyed those formal and informal systems which were potential sources of support for mothers. Findings indicated that mothers experiences were differentially affected by their setting. Mothers were generally satisfied with th
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Sun, Xiulian. "Molecular mechanism of Alzheimer's disease pathogenesis in Down syndrome." Thesis, University of British Columbia, 2006. http://hdl.handle.net/2429/31167.

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Alzheimer's disease (AD) is the most common neurodegenerative disease leading to dementia. Neuritic plaques and neurofibrillary tangles are the two hallmarks of AD neuropathology. The molecular mechanism underlying AD pathogenesis remains unknown. It is believed that deposition of amyloid β (Aβ) protein in the brain plays a pivotal role in AD pathogenesis. Aβ, the central component of neuritic plaques, is derived from β-amyloid precursor protein (APP) by sequential cleavages by β- and γ-secretase. Nearly all individuals with Down Syndrome (DS) show characteristic AD pathological changes after
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Lloyd, Robyn School of Optometry &amp Visual Science UNSW. "Achromatic and chromatic VEPs in adults with down syndrome." Awarded by:University of New South Wales. School of Optometry and Visual Science, 2005. http://handle.unsw.edu.au/1959.4/23957.

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Previous studies have found that spatial processing in children and adults with Down syndrome is different in comparison to the normal population. Some previous studies have also found that there is a high prevalence of colour vision deficiencies in people with Down syndrome. The aim of the present study was to use an objective test, the transient visual evoked potential (VEP), to assess achromatic and chromatic visual processing in adults with Down syndrome. Achromatic VEPs were recorded in response to black-white stimuli presented in patternreversal mode. Chromatic VEPs were recorded in resp
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Christodoulou, Christa. "Cypriot Greek Down syndrome : their grammar and its interfaces." Thesis, University of British Columbia, 2011. http://hdl.handle.net/2429/37171.

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This dissertation investigates the linguistic performance of 16 Cypriot Greek individuals diagnosed with Down Syndrome (henceforth, CGDS), aged 19;0 to 45;11, and compares their performance to 17 Cypriot Greek Typically Developing Children (hereafter, CGTDC), aged 7;0 to 8;11. Three hypotheses were tested to determine whether the differences between the two groups, as well as the Grammar of Cypriot Greek adults with typical development (henceforth, CGTD) were: (i) syntactically, (ii) morphologically, or (iii) phonetically and phonologically conditioned. When consulting previous research, a n
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De, Vita Serena. "Modelling Down Syndrome leukaemia using transchromosomic ES cell lines." Thesis, Queen Mary, University of London, 2009. http://qmro.qmul.ac.uk/xmlui/handle/123456789/462.

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AMKL (acute megakaryoblastic leukaemia) accounts for at least 50% of all cases of acute myeloid leukaemia (AML) associated with Down Syndrome (DS). Every tenth neonate with DS develops Transient Myeloproliferative Disorder (TMD), a self-regressing neoplasia with features that closely resemble AMKL. Despite the vast majority of TMD cases self-regressing within a few weeks, approximately 30% of DS infants with TMD develop by the age of 2-4 years a more aggressive, full-blown AMKL. Both DS-TMD and DS-AMKL are associated with trisomy of human chromosome 21 (HSA21) and with acquired mutations of GA
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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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