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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 Adolescents with Special Health Care Needs and Disabilities--gather the latest research and wisdom of 18 diverse authorities in the medical field. Together, they give pre- and in-service nurses the foundation of knowledge they need to help ensure equal access to health care for people with IDD choose from today's models and philosophies of carepromote their patients' psychosocial developmentprovide effective physical careconduct health assessments and develop individualized plans of caremaintain successful interdisciplinary collaboration with other professionals address the issues associated with specific disabilities, including autism, Down syndrome, cerebral palsy, fragile X, sensory impairment, and medical and behavioral health problems support developmental transitions across the lifespan expand their knowledge of genetics and apply it to nursing practice skillfully manage ethical and legal issuesunderstand the service agencies used by individuals with IDD Enhanced with clinical practice guidelines to support effective work with individuals who have IDD, this textbook lights every nurse's path to person-centered, evidence-based care that improves their patients' lives.
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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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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 Pointing task (Petrides & Milner, 1982), but showed a disadvantage on the DCCS, a cool EF task, when matched on performance mental age (PMA, M = 58.34 months). These results reflect the complex cognitive profiles of persons with Down syndrome and highlight the need for more precise matching procedures.
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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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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 support during the child's first year. The aim was further more to describe the included articles data collections methods. Method: A literaturere view with descriptive design. The literature contains ten scientific articles with both qualitative and quantitative approach. The articles were collected through PubMed and Cinahl. The authors reviewed articles and looked for similarities and differences that could form the basis of the result. Main result: The literature review shows that parents of children with DS are concerned about the future when support and information from nurses and health care professionals is inadequate. The parents feel unprepared for the parent hood. The results of this review were based on both qualitative and quantitative articles. Interviews, surveys and questionnaires were used as data collection methods in these articles. Conclusion: This literature demonstrates the importance of good communication between parents and health care professionals. The lack of informative and emotional support creating anxiety and fear among parents. Having a child with DS is something that can change the lives of the entire family. The nurse has an important role in providing adequate support to the whole family.Bakgrund: Downs syndrom (DS) är den vanligaste orsaken till en intellektuell funktionsnedsättning hos barn. Barnet har en extra kromosom på det 21:a kromosomparet. Det är viktigt att sjuksköterskan är trygg inom det egna kunskapsområdet för att kunna ge varje individ den specifika vård den behöver. Att bli förälder är en stor händelse i människors liv och det kan vara förenat med både glädje och oro inför framtiden. Syfte: Syftet med denna litteraturstudie var att beskriva föräldrars erfarenheter av stöd från sjukvårdspersonal när barnet föds med DS samt erfarenheter av stöd under barnets första levnadsår. Syfte var även att studera de valda artiklarnas datainsamlingsmetoder. Metod: En litteraturstudie med beskrivande design. Litteraturstudien innehåller tio vetenskapliga artiklar med kvalitativ och kvantitativ ansats. Artiklarna samlades in via PubMed och Cinahl. Författarna granskade artiklarna samt letade efter likheter och skillnader som kunde ligga till grund för resultatet. Huvudresultat: Litteraturstudien visar att föräldrar till barn med DS känner oro inför framtiden när stödet och informationen från sjuksköterskan och sjukvårdspersonalen är bristfällig. Föräldrarna känner sig oförberedda på föräldraskapet. Resultatet i denna litteraturstudie baserades på både kvalitativa och kvantitativa artiklar. Datainsamlingsmetoder som användes i dessa artiklar var intervjuer, enkäter samt frågeformulär. Slutsats: Föreliggande litteraturstudie visar på betydelsen av god kommunikation mellan förälder och sjukvårdspersonal. Bristen på upplysande och känslomässigt stöd kan skapa oro och rädsla hos föräldrar. Att få ett barn med DS är något som kan förändra livssituationen för hela familjen. Sjuksköterskan har därför en viktig roll i att ge ett fullgott stöd till hela familjen.
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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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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 unknown. Height is influenced by parental factors, energy intake, hormone balance and general health. In DS, genetic factors deriving from the extra chromosome 21 further affect growth. Children with DS seem to have reasonable levels of growth hormone (GH), even though GH treatment for limited periods of time improves growth velocity. Within the present project, the subjects of a previous study on early GH therapy in DS were followed up regarding late effects. We found a larger adult head circumference and better psychomotor abilities in the previously treated subjects despite a lack of effect on final height. In adult life, GH has effects on psychological well-being and metabolism. The clinical features in adults with DS might indicate impaired GH secretion. Ten young adults with DS were studied and compared with ten healthy controls. The GH secretion in the DS subjects did not differ from that in the controls. The fat body mass percentage was increased in DS, in line with the high prevalence of overweight/obesity. The finding of an increased HOMA index as well as a high relative rate of hepatic glucose production in DS indicates reduced insulin sensitivity both peripherally and in the liver. Thyroid dysfunction is common in DS. There is a 30-fold increase in congenital hypothyroidism, and acquired hypothyroidism has been reported to be present in up to 50% of adults with DS. We collected neonatal screening results and hospital records for the first ten years of life of 68 children with DS. The mean TSH concentration was increased neonatally, indicating marginal hypothyroidism early in life in DS. However, the neonatal TSH level did not predict development of manifest hypothyroidism later in life.Downs syndrom (DS) är en vanlig kromosomavvikelse. Kortvuxenhet och psykomotorisk utvecklingsstörning är kardinaltecken vid DS. Endokrina avvikelser är också frekvent förekommande. Tillväxt är en bra indikator på barns hälsa. Nyfödda barn med DS är kortare än andra nyfödda, och skillnaden i längd ökar under barndomen. Sjukdomar som påverkar tillväxten upptäcks ofta via ett förändrat tillväxtmönster. Detta kan lätt förbises vid DS eftersom tillväxten redan är avvikande. Användning av syndromspecifika tillväxtkurvor ökar möjligheterna till diagnostik av sjukdomar som stör längdtillväxten. Vi har framställt tillväxtkurvor för barn med DS, vilka finns tillgängliga inom svensk barnsjukvård och barnhälsovård. Längdtillväxt styrs av nedärvda faktorer från föräldrarna liksom av nutrition, hälsa och hormoner. Genetiska faktorer, kopplade till kromosom 21, kan påverka tillväxten vid DS, men tillväxtstörningens exakta bakgrund är inte känd. I vuxen ålder är personer med DS ungefär 20 cm kortare än förväntat med hänsyn till föräldralängder. Trots att barn med DS har relativt normala nivåer av tillväxthormon (STH eller GH) förbättras deras tillväxt vid STH-behandling. Inom avhandlingsarbetet följde vi upp ungdomar med DS, vilka behandlats med STH i tidig barndom. Vi kunde påvisa större huvudomfång samt förbättrad kognitiv och motorisk förmåga, trots avsaknad av effekt på slutlängden. Tillväxthormon har i vuxen ålder effekt både på ämnesomsättning och psykologiskt välbefinnande. Vuxna individer med DS uppvisar flera tecken förenliga med STH-brist. Vi jämförde tio unga vuxna med DS med tio friska kontrollindivider avseende förmågan att insöndra STH. STH-insöndringen hos individerna med DS skiljde sig inte från den hos kontrollerna. Vid samtidig undersökning av kroppssammansättning påvisades en ökad andel kroppsfett hos individerna med DS, resultat i linje med den frekventa förekomsten av övervikt/fetma. Individerna med DS hade en förhöjd glukosproduktion, som tillsammans med ett ökat HOMA-index talar för förekomst av minskad insulinkänslighet både på levernivå och perifert. Brist på sköldkörtelhormon är mycket vanligt vid DS och upp till hälften av vuxna med DS kan ha hypotyreos. Vi studerade 68 barn med DS avseende nivåer av tyroideastimulerande hormon (TSH) vid PKU-provtagning. Vi följde också barnens journalhandlingar från de tio första levnadsåren i syfte att undersöka om den neonatala TSH-nivån kan prediktera framtida underfunktion av sköldkörteln. Resultaten visade att barn med DS har en förhöjd nivå av TSH neonatalt, vilket indikerar en brist på sköldkörtelhormon redan i nyföddhetsperioden, men nivån förutsäger inte utveckling av manifest hypotyreos senare under barndomen.
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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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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 using a computerized risk figure program. The risk 1 in 250 was used as a cut-off. The subgroup of screen positives comprised 5.8% of the study group.
There were 16 DS cases. The combined method (maternal age, NT and the biochemical markers) detected 77% of the affected pregnancies. NT combined with maternal age gave a detection rate of 69%. Serum markers without NT combined with maternal age found 75% of the Down's.
In 49 consecutive singleton in-vitro-fertilization pregnancies, the β-hCG value was more often elevated compared to spontaneous pregnancies, increasing the false positive rate. In 67 twin pregnancies, the serum marker levels were approximately double those in singletons. Smoking reduced PAPP-A by 20% making the smokers more likely to get a positive screening result.
To determine the impact of the screening on the live born incidence of DS, two historical populations were compared. The first group was screened by second trimester serum samples (β-hCG and AFP) and the second group by first trimester ultrasound examination. When detection rates were at the same level, the second trimester screening reduced the number of live born Down's children more effectively.
In conclusion, the first trimester combined method (maternal age, NT, β-hCG and PAPP-A) for Down syndrome screening is efficient in an unselected low risk population. The biochemical screening is not recommended in IVF-pregnancies.
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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 screening parameter, PAPP-A, is associated with adverse pregnancy outcomes. The prevalence of Down syndrome (DS) cases in Finland during the years 2002–2006 was 1:364 (N=795). The proportion of women aged 35 years or older increased from 5–10% in the years 1980–1990 to 19.1% during the study period. Most DS cases (61.1%) presented in that age group. The first trimester combined screening for Down syndrome yielded a detection rate (DR) of 81.9% for a 4.3% false positive rate (FPR). The performance was evaluated among 76949 voluntary women during the study period of 01.05.2002–31.12.2008. There were 188 cases of DS. The screening worked better among the older women. The number of invasive procedures needed to detect one case of DS was higher among the younger women. Adding specific algorithms for screening of other chromosomal abnormalities yielded DR of 74.0% for trisomy 18 (T18) and 54.5% for trisomy 13 (T13) with an additional increase of 0.3% FPR. For chromosomal abnormalities other than T18 and T13, the specific algorithms did not improve the screening performance. Low first trimester maternal serum levels of PAPP-A (≤0.30 MoM) were significantly associated with small for gestational age (SGA) newborns and stillbirths (SBs). The combined screening method for DS works well in practice and has been standardized in Finland. In screening for trisomies 18 and 13 a specific algorithm is reasonable. Low first trimester levels of PAPP-A could be used as an independent marker for pregnancies at high risk for SGA babies and SBsTiivistelmä Tutkimuksen tarkoituksena oli arvioida laajennetun ensimmäisen raskauskolmanneksen kromosomipoikkeavuuksien seulonnan toimivuutta yksisikiöisissä raskauksissa suomalaisessa normaaliväestössä. Äidin seerumin biokemialliset merkkiaineet, raskauteen liittyvä valkuaisaine A (PAPP-A) ja raskaushormoni (fβ-hCG) sekä sikiön niskaturvotus mitattiin raskausviikoilla 8+0–13+6. Yksilöllinen riskiluku kromosomipoikkeavuuksille laskettiin käyttäen tietokoneen riskinlaskentaohjelmaa. Seulonnan merkkiaineen, PAPP-A:n, matalien pitoisuuksien yhteyttä epäsuotuisiin raskauden lopputuloksiin tutkittiin. Downin oireyhtymän esiintyvyys Suomessa oli 1:364 (N=795) vuosina 2002–2006. 35-vuotiaiden tai sitä vanhempien naisten osuus oli tutkimusaikana 19.1 %, mikä on huomattavasti suurempi kuin vuosien 1980–1990: 5–10 %. Näiden naisten sikiöiden joukosta löytyi suurin osa Down oireyhtymistä (61.1 %). Ensimmäisen raskauskolmanneksen yhdistelmäseulonnan toimivuutta tutkittiin aikana 01.05.2002–31.12.2008. Tutkimukseen osallistui 76 949 vapaaehtoista naista. Joukossa oli 188 Downin oireyhtymätapausta. Seulonnan herkkyys Downin oireyhtymälle oli 81.9 % ja tarkkuus 4.3 %. Seulonta toimi parhaiten vanhempien naisten joukossa. Niiden kajoavien toimenpiteiden määrä, jotka tarvittiin yhden Down-sikiön löytämiseksi, oli suurempi nuorten naisten joukossa. Tutkimuksessa Downin oireyhtymän algoritmiin lisättiin spesifiset algoritmit trisomioille 18 ja 13, jolloin saavutettiin 74.0 %:n herkkyys trisomialle 18 ja 54.5 %:n herkkyys trisomialle 13. Väärien positiivisten seulontatulosten määrä kasvoi 0.3 %:n verran. Seulonnan toimivuus muiden kromosomipoikkeavuuksien joukossa ei parantunut spesifisten algoritmien avulla. Lisäksi matalan PAPP-A-pitoisuuden yhteys pienipainoisuuten ja kuolleena syntyneisyyteen oli tilastollisesti merkittävä. Tutkimus osoitti, että esimmäisen raskauskolmanneksen yhdistelmäseulonta toimii hyvin käytännössä. Trisomioiden 18 ja 13 seulonnassa spesifisten algoritmien käyttö on järkevää. Matalaa ensimmäisen raskauskolmanneksen PAPP-A-arvoa voitaisiin käyttää itsenäisenä riskimerkkiaineena raskauksille, joissa pienipainoisuuden ja kuolleena syntymisen riski on kohonnut
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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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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 the physical features that people with Down Syndrome possess are easy to identify. Specifically, the study examines the portrayal of self-esteem in two television characters, Corky Thatcher (Life Goes On) and Becky Faye Jackson (Glee). The researcher will also examine how the portrayal of self-esteem in the two characters is similar or different in people who have Down Syndrome. In the study the researcher found that the representation of the character Corky was different from the character Becky. But both characters tackled issues that affected the Down Syndrome community and it affected their self-esteem. Corky and Becky were different from the interviewees in the way they realized their competencies. Although the interviewees who have Down Syndrome and the television characters used self-evaluation differently to evaluate one's own self-esteem, they all seem to exhibit a positive level of self-esteem.
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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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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 restorying procedure, a narrative tone and thematic analyses were then used to interpret the narratives. The findings revealed diversity in the way the participants spoke about their lives. All participants experienced factors which would have had a positive contribution on their identity development. However, some experienced other factors which may put them at-risk of foreclosing on their identity development. The implication of identity development for generating pragmatic or ambitious aspirations is discussed. I recommend that future research explores what is currently happening in educational settings to promote identity formation in those with DS and how this might be refined to harness positive outcomes for this group.
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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 cognitive tasks, objective measures of sleep, and questionnaires. Sleep problems were syndrome-specific, with poor sleep quality and oxyhaemoglobin desaturation occurring more frequently in OS, suggestive of breathing difficulties during sleep, and long sleep latencies in the WS group. TD children performed well on cognitive tasks of short term memory, working memory and sustained attention compared to children with OS and WS, and their performance generally improved with increasing age, which tended not to be the case for the clinical groups. In the TD group, improved sleep quality and higher, less variable oxyhaemoglobin saturation related to better performance on cognitive tasks and fewer behavioural problems. Few associations between sleep, cognition and behaviour were found in the OS and WS groups. TD children and children with WS showed evidence of sleep-dependent memory consolidation for explicitly learnt material on two tasks. Mothers of children with OS had the poorest sleep and most daytime sleepiness, though not related to children's sleep or daytime behaviour. The findings indicate that sleep problems should be assessed and managed in clinical groups. Educational strategies should be implemented to reinforce sleep-related learning gains. Future research could examine whether sleep-dependent learning occurs in relation to specific aspects of sleep architecture in children with OS and WS, as it does in adults and TD children.
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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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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 vocabulary was marginally significantly different between children with DS and no CHD, a CHD that did not require surgery, and a CHD that did require surgery, such that children with a CHD requiring surgery had the smallest vocabulary. Children had significantly more health problems when they had a CHD that required surgery. Expressive and receptive vocabularies were significantly smaller for children with hearing impairment.
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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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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 yielded no significant results due to a lack of power, the mean correct reaction times (RTs) indicate that both the adults with Down syndrome and the typically developing children were less efficient at filtering close distractors as compared to far distractors or no distractors. As well, the results suggest that the presence of the visual window failed to facilitate performance in both groups. Further investigation is warranted to determine the status of visual filtering in persons with Down syndrome relative to their level of functioning at an MA level of approximately 5 years, a period that is critical in the development of attentional processes.
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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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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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Czerminski, Jan T. "Modeling Down Syndrome Neurodevelopment with Dosage Compensation." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1037.
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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 allows us to study the effects of trisomy in a tightly controlled system by comparing the same cells with either two or three active copies of chromosome 21. In addition, it raises the prospect that insertion of a single gene into a trisomic chromosome could potentially be developed in the future for “chromosome therapy”.
This thesis aims to utilize this inducible system for dosage compensation to study the neurodevelopmental effects of trisomy 21 in vitro, and to answer basic epigenetic questions critical to the viability of chromosome silencing as a therapeutic approach. Foremost, for XIST to have any prospect as a therapeutic, and to strengthen its experimental utility, it must be able to initiate chromosome silencing beyond its natural context of pluripotency. Here I demonstrate that, contrary to the current literature, XIST is capable of initiating chromosome silencing in differentiated cells and producing fully dosage compensated DS neurons. Additionally, I show that silencing of the trisomic chromosome in neural stem cells enhances their terminal differentiation to neurons, and transcriptome analysis provides evidence of a specific pathway involved. Separate experiments utilize novel three-dimensional organoid technology and transcriptome analysis to model DS neurodevelopment in relation to isogenic euploid cells. Overall, this work demonstrates that dosage compensation provides a powerful experimental tool to examine early DS neurodevelopment, and establishes that XIST function does not require pluripotency, thereby overcoming a perceived obstacle to the potential of XIST as a therapeutic strategy for trisomy.
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Lomartire, Laura <1982>. "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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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. The only established risk factor for the DS is advanced maternal age, responsible for changes in the meiosis of oocytes, in particular the meiotic nondisjunction of chromosome 21. In this process mitochondria play an important role since mitochondrial dysfunction, due to a variety of extrinsic and intrinsic influences, can profoundly influence the level of ATP generation in oocytes, required for a correct chromosomal segregation. Aim. The aim of this study is to investigate an integrated set of molecular genetic parameters (sequencing of complete mtDNA, heteroplasmy of the mtDNA control region, genotypes of APOE gene) in order to identify a possible association with the early neurocognitive decline observed in DS. Results. MtDNA point mutations do not accumulate with age in our study sample and do not correlate with early neurocognitive decline of DS subjects. It seems that D-loop heteroplasmy is largely not inherited and tends to accumulate somatically. Furthermore, in our study sample no association of cognitive impairment and ApoE genotype is found. Conclusions. Overall, our data cast some doubts on the involvement of these mutations in the decline of cognitive functions observed in DS.
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Lomartire, Laura <1982>. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/.
Full textAbstract:
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. The only established risk factor for the DS is advanced maternal age, responsible for changes in the meiosis of oocytes, in particular the meiotic nondisjunction of chromosome 21. In this process mitochondria play an important role since mitochondrial dysfunction, due to a variety of extrinsic and intrinsic influences, can profoundly influence the level of ATP generation in oocytes, required for a correct chromosomal segregation. Aim. The aim of this study is to investigate an integrated set of molecular genetic parameters (sequencing of complete mtDNA, heteroplasmy of the mtDNA control region, genotypes of APOE gene) in order to identify a possible association with the early neurocognitive decline observed in DS. Results. MtDNA point mutations do not accumulate with age in our study sample and do not correlate with early neurocognitive decline of DS subjects. It seems that D-loop heteroplasmy is largely not inherited and tends to accumulate somatically. Furthermore, in our study sample no association of cognitive impairment and ApoE genotype is found. Conclusions. Overall, our data cast some doubts on the involvement of these mutations in the decline of cognitive functions observed in DS.
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Fontanesi, Elisa <1984>. "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.
Full textAbstract:
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 due the presence of a trisomic chromosome. As epigenomic studies can help to shed light on this issue, here we used the Infinium HumanMethilation450 BeadChip to analyse blood DNA methylation patterns of 29 persons affected by Down syndrome (DSP), using their healthy siblings (DSS) and mothers (DSM) as controls. In this way we obtained a family-based model that allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors.
We showed that defects in DNA methylation map in genes involved in developmental, neurological and haematological pathways. These genes are enriched on chromosome 21 but localize also in the rest of the genome, suggesting that the trisomy of specific genes on chromosome 21 induces a cascade of events that engages many genes on other chromosomes and results in a global alteration of genomic function. We also analysed the methylation status of three target regions localized at the promoter (Ribo) and at the 5’ sequences of 18S and 28S regions of the rDNA, identifying differently methylated CpG sites.
In conclusion, we identified an epigenetic signature of Down Syndrome in blood cells that sustains a link between developmental defects and disease phenotype, including segmental premature aging.
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Fontanesi, Elisa <1984>. "Epigenetic signature in persons with Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2015. http://amsdottorato.unibo.it/6821/.
Full textAbstract:
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 due the presence of a trisomic chromosome. As epigenomic studies can help to shed light on this issue, here we used the Infinium HumanMethilation450 BeadChip to analyse blood DNA methylation patterns of 29 persons affected by Down syndrome (DSP), using their healthy siblings (DSS) and mothers (DSM) as controls. In this way we obtained a family-based model that allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors.
We showed that defects in DNA methylation map in genes involved in developmental, neurological and haematological pathways. These genes are enriched on chromosome 21 but localize also in the rest of the genome, suggesting that the trisomy of specific genes on chromosome 21 induces a cascade of events that engages many genes on other chromosomes and results in a global alteration of genomic function. We also analysed the methylation status of three target regions localized at the promoter (Ribo) and at the 5’ sequences of 18S and 28S regions of the rDNA, identifying differently methylated CpG sites.
In conclusion, we identified an epigenetic signature of Down Syndrome in blood cells that sustains a link between developmental defects and disease phenotype, including segmental premature aging.
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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, age and tonsil size. It is also known to associate with behavioral problem in DS children and delay their neurodevelopment. Therefore, early treatment followed by appropriate modification in lifestyle and diet is crucial in managing OSA.published_or_final_version
Public Health
Master
Master of Public Health
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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 airway pressure (CPAP) in an adult DS population. Standard questionnaires including pictorial Epworth Sleepiness Scale (pESS) and Developmental Behaviour Checklist for Adults (DBC-A) were sent to UK adults aged ≥16yr with DS and their caregivers. All questionnaire responders were invited to undergo home polygraphy. Symptomatic adults with DS with ≥10 apnoeas/hypopnoeas per hour in bed (AH) on home polygraphy were invited to participate in a prospective randomised controlled trial (RCT) of CPAP v. lifestyle advice, with review at 1, 3, 6 and 12m. Participants in the lifestyle arm were offered CPAP at 1m. Standard measurements of sleepiness, behaviour, cognitive function and general health were undertaken. Standard statistical analyses were conducted, with significance set at p < 0.001 to control for multiple testing. Of 5270 questionnaires sent, 1105 responses were valid (21%). Responders (55% males) were overweight/obese young adults: mean BMI 29.0±6.8kg/m2; mean age 28±9 years. Women had a higher BMI (p < 0.0001), but collar size was greater in men (p < 0.0001). Mean pESS scores were broadly within the normal range (7±5/24). No significant gender differences in OSAHS symptoms were noted. Individuals with probable OSAHS had higher pESS and DBC-A scores, and significantly more symptoms of OSAHS. Subjective OSAHS prevalence was estimated at 35%. Of the 790 individuals invited, 149 underwent polygraphy, with 134 valid studies obtained: mean AH 21.8(10.9-42.7); mean oximetry desaturation index (ODI) 6.6(2.3-20.0). No significant gender differences were observed. Forty-two percent of participants met standard clinical diagnostic criteria for OSAHS. Twenty-eight eligible adults with DS (19 male) were randomised: age 28±9yr; BMI 31.5±7.9kg/m2; AH 28.6(14.8-47.9); ODI 7.3(1.8-21.9); pESS 11±6/24. Groups did not differ significantly at baseline. By 12m, 4 participants had withdrawn (all remaining participants on CPAP). The pESS (p=0.001), DBC-A Disruptive (p < 0.0001) and Kaufmann Brief Intelligence Test verbal subscale (p=0.001) scores improved significantly. This first large study of OSAHS prevalence in the adult DS population estimates a prevalence of 35-42% - around 10 times higher than in the general adult population. Sustained, significant improvements in sleepiness, cognitive function and behavioural/emotional outcomes with CPAP use over a 12m period were demonstrated during this first RCT of CPAP in adults with DS. A larger trial of CPAP in this population is warranted.
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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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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 and anxiety but also joy and love for their child. It also emerged that the support in their life was seen as a great asset in order to cope with the difficulties they might be facing. In healthcare parents could sometimes feel a lack of continuity and a bad attitude from healtcare personal which was identified as a risk of poor quality of care. In order to provide the best possible support and care to the parents, healthcare personal and persons in the parents' surroundings need to be aware and have an understanding of the parents' situation. Daring to meet the parents and their child is essential to build a good relationship and provide good care. Furthermore, it would be interesting to explore nurses' experiences of caring for people with Down syndrome.Det ställs stora krav på föräldrar till barn med Downs syndrom på grund av barnens omvårdnadsbehov genom hela livet. Syftet med denna litteraturstudie varatt undersöka föräldrars upplevelse av att leva med ett barn med Downs syndrom. Utifrån syftet valdes relevanta sökord ut som användes i systematiska sökningar. Fyrateman framkom efter bearbetning och granskning av resultatartiklar. Dessa fyrateman var: oro, acceptans,utmaningar och stöd. I resultatet framkom det att föräldrar till barn med Downs syndrom kändeorooch bekymmermen också en glädje och kärlek till sitt barn. Det framkom också attstödet i föräldrarnas liv sågs som en stor tillgång för att klara av de svårigheter de kunde ställas inför. Inomsjukvården kunde föräldrar ibland känna en brist på kontinuitet och ett dåligtbemötande från vårdpersonalen vilket identifierades som risk för dålig kvalitet på vården. För att kunna ge bästa möjliga stöd och omvårdnad till föräldrarna krävs det att både vårdpersonal och personer i föräldrarnas omgivning har en medvetenhet och förståelse för föräldrarnas situation. Att våga möta föräldrarna och deras barn är väsentligt för att bygga upp en bra relation och kunna ge en god vård. Vidare vore det intressant att utforska sjuksköterskors upplevelser av att vårda personer med Downs syndrom.
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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, autonomous voice and narrative point of view. In reframing the Australian landscape as "disabled" this exegesis illustrates that the Australian Gothic novel can shift, and sometimes even remove, the boundary around characters with intellectual disabilities, allowing a space where the stories of characters with Down syndrome can emerge.
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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 compared to typically developing children of a similar developmental level. However, when performance was compared to children with Down syndrome differing profiles emerged, with greater weaknesses by the fragile X syndrome males on specific tasks requiring mental arithmetic and basic numeracy skills. The importance of using syndrome specific information in the assessment of math disabilities and the design of early educational interventions are discussed.
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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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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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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-closed (EC; n=36) resting-state EEG paradigms in adults with DS free from detectable signs of cognitive decline or dementia to identify EEG measures associated with general cognitive ability, and to investigate age-related changes in EEG activity in this population. Oscillations of interest were then modelled using dynamic causal modelling (DCM) to identify potential neurophysiological mechanisms underlying individual differences in general cognitive ability. Initial analysis suggested that individuals with DS have an overall slower EC EEG spectrum (and particularly strong differences in alpha activity) compared to typically-developing age-matched control subjects (open source control dataset used). Within individuals with DS, increasing age was associated with EEG changes in both paradigms. When controlling for age, higher general cognitive ability was associated with higher delta power (EO only), higher theta power (EC only), and higher alpha peak amplitude (EC only). Modelling the theta-alpha network identified “intrinsic self-inhibition” as the most important neurophysiological parameter underlying the relationship between theta-alpha activity and general cognitive ability in this sample. Further analysis revealed a strong inverse relationship between occipital intrinsic self-inhibition and general cognitive ability. Findings of this thesis enhance our understanding of neural factors associated with individual differences in general cognitive ability in adults with DS, provide a potential biomarker of ability for clinical trials, and indicate potential targets for cognitive enhancement in this population. The finding that increased inhibition may be associated with cognitive impairment in this population is in keeping with animal model literature and warrants further investigation.
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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 mouse model of DS carries 122 genes on its translocated chromosome and recapitulates these DS-associated phenotypes. Neurodegeneration in these mice may be caused by impaired retrograde axonal transport of essential neurotrophic factors. The triplication of the Hsa21-encoded amyloid precursor protein (APP) gene is proposed to cause enlarged early endosomes and a perturbed endocytic pathway that subsequently leads to axonal transport deficits. However the genetic contribution of other Hsa21 genes to axonal transport deficits remains unknown. The research in this thesis aimed to recapitulate the axonal transport, endocytic and dendritic phenotypes in Ts65Dn mice, and to elucidate the contribution of Hsa21 genes, to the pathogenesis of these deleterious phenotypes. Live-cell imaging of quantum dot-labelled brain-derived neurotrophic factor (BDNF) in Ts65Dn hippocampal neurons revealed impaired BDNF axonal transport. Neurons from these mice also displayed a greater number of enlarged early endosomes and reduced dendritic surface area and volume. The Ts1Rhr mouse model encodes 31 duplicated genes that are orthologous to the human DS critical region (DSCR), and has disomic APP expression levels. Ts1Rhr hippocampal neurons also revealed impaired BDNF axonal transport, however endosomal and dendritic morphology was spared. This suggests that in addition to APP, one or more genes orthologous to the human DSCR may be necessary for axonal transport deficits but not for the enlarged early endosome phenotype or dendritic abnormalities. Other putative mechanisms, such as perturbed cytoskeleton and motor protein function, may additionally exacerbate impaired axonal transport of neurotrophins.
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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 UniversityThis 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 measured by the TGMD. The methods required seven distinct activities: the creation of an instructional manual; recruitment and instruction of project assistants; identification and recruitment of the subjects and their families; pretest and posttest assessment of subjects; instructional training of parents; and the twelve week intervention. The comparison (C) group received the Handwriting Without Tears program during the 12 week intervention period. When compared with the (C) group, all subjects in the experimental (E) group showed statistically significant improvement in the acquisition of fundamental motor skills as measured by the TGMD. Four (E) group subjects improved to the "average" range for typically developing children. Ten of the 11 (E) group subjects continued to improved their demonstrated fundamental motor skill performance two weeks after the intervention, while one subject maintained his gains. Weekly parent comments during the intervention gave testimony to the effectiveness of the intervention supporting primary and secondary gains for the subjects. Parents reported that interactions between family members and the subjects increased and fundamental motor skills improved during spontaneous unstructured play and during organized activities at home and at school. This study challenges the previous research suggesting children with Down syndrome need specialized motor development programs. Furthermore, this study demonstrates that the acquisition of fundamental motor skills for children with Down syndrome can be accelerated.
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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 for the individual with Down syndrome. Therefore, it is important to understand the sibling relationship at an early stage of their lives and what the lived experience is for the sibling. The framework for this study was developed from the author’s worldview of reciprocal interaction and epistemology of constructionism. The influences of the environment and other individuals on the sibling supported the use of the theoretical framework of Bronfenbrenner’s Bioecological System Theory. The notion that children are continually evolving holistic individuals who are developing through task achievements and, with the influences of family members, supported the use of Erikson’s psychosocial developmental theory. These two theories were combined to frame this study. Interpretive phenomenology was used as the method of research in this study. The sample consisted of seven school-age siblings, between the ages of eight to eleven years of age, of children with Down syndrome. Data analysis involved the use of the hermeneutic circle. From the analysis emerged seven themes: always together, tolerance, intense love, responsibility for my brother or sister, things will change when child with Down syndrome gets better, no difference from other families, and impact on other relationships. Two themes provided new information about the meaning of the lived experience of being a sibling, always together and things will change when child with Down syndrome gets better. The knowledge gained from this study will allow us to begin to hear sibling’s voices so that we can see what we need to do in the future to help with support and future research.
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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 and found that the HSC compartment is always expanded in DS FL compared to normal FL and that this had markedly increased CD7 expression. The DS FL HSC/ MPP compartment was also functionally abnormal with increased clonogenicity and megakaryocyte-erythroid potential and a distinct gene expression signature. Since no mutations in GATA1 or JAK2 were detected, my data support a direct role for T21 in the abnormalities of HSC number and function. To investigate whether differences in the FL microenvironment contribute to the abnormal HSC/myeloid progenitor compartment in DS FL, I analysed HSC/progenitors in fetal BM in DS by flow cytometry and in vitro assays. Although both MEP and myeloid progenitor/HSC clonogenicity and self-renewal were increased, this was less marked than in DS FL, indicating the effects of T21 are not limited to FL haematopoiesis but also supporting a role for the HSC/progenitor microenvironment. To investigate the role of T21 in initiation of ALL, I tested the hypothesis that T21 perturbs lymphopoiesis by characterising the lymphoid progenitor population in FL and fetal BM. I found a marked reduction in B progenitors, particularly at the committed B progenitor (CBP) level in DS FL and fetal BM which was confirmed by in vitro lymphoid cultures and gene expression patterns. These studies have characterised normal human fetal haematopoiesis for the first time and show that HSC, MPP and LMPP populations with full lymphoid differentiation are present in FL indicating that FL, and not just BM, is an active site of lymphopoiesis during fetal life which has implications for the origin of infant ALL. I have also demonstrated that T21 perturbs haematopoiesis at the HSC level, leading both to myeloid progenitor expansion and a block to B-cell differentiation. These findings increase our understanding of the role of T21 in initiating and maintaining leukaemia-initiating cells and suggest a tractable model for investigating the effects of aneuploidy on cell growth and differentiation.
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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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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 pathophysiological mechanisms of OSAS, seen in children with DS and OSAS may exacerbate learning or behavior disorders.Forty children with DS aged 7-18 were administered the Arizona Cognitive Test Battery (ACTB) for DS (Edgin et al., 2010), and in-home ambulatory polysomnography. Their parents were asked to complete several questionnaires assessing their child's sleep and behavior. Seventy-seven percent (n = 40) of our sample met criteria for pediatric sleep apnea (AHI>1.5), and the mean apnea hypoppnea index (AHI) was 8.4 events per hour. Our sample had a mean arousal index of 10.3, a respiratory arousal index of 3.2, and a SaO2 nadir of 86.9%. Over 70% of our sample had a SaO2 nadir below 90%. We examined the relationship between OSAS severity and cognitive and behavioral outcomes. We found that children with DS with a lower apnea hypopnea index (AHI) attained a greater number of stages on the CANTAB PAL task compared to chronologically age-matched children with higher AHI, and the variance in performance was partially explained by sleep fragmentation (i.e., the arousal index) and experimenter-rated "attention" but not hypoxemia. In addition, we also found that the low apnea group showed a trend toward outperforming the high apnea group on the KBIT-II Verbal IQ scale and DAS-2 Pattern Construction subtest.These findings have important clinical implications. First, these results suggest that early screening for OSAS in DS is important, as OSAS severity seems to explain some of the variance in cognitive functioning. Second, these findings suggest that an early intervention for OSAS might be warranted.
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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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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 and far) of distracting stimuli and the presence or absence and size (small, medium and large) of boundary cues. Participants included 10 children with Down syndrome and 10 children of normal intelligence matched for mental age. The primary finding of this study was that the performance of children with Down syndrome was more adversely affected by the presence of distractors than that of the children of normal intelligence. This finding indicates that children with Down syndrome suffer from selective attention deficits and increased distractibility. The selective attention of children with Down syndrome is characterized as distractor-controlled as a result of a defective attentional (zoom) lens that "wanders" in visual space.
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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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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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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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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 till barn med DS skattade ”glad” högst och ”förkrossad” lägst. ”Glad”, ”arg” och ”ledsen” var signifikant högre hos mödrarna jämfört med hos fäderna. Fäderna skattade ”bitter/dyster” signifikant högre än mödrarna. För övrigt fanns inga signifikanta skillnader mellan föräldrarna. Totalt skattade mödrar och fäder de positiva känslouttrycken högre än de negativa. Resultatet i studien tyder på att mödrar och fäder till barn med DS inte är i behov av könsanpassad utan istället individanpassad stöttning och vägledning.
This study is based on a compilation of previously collected and unprocessed data. The purpose of the study was to compare whether there were any differences between the feelings of mothers and fathers of children with Down syndrome (DS). 80 mothers and 79 fathers participated in the study. The children´s average age was 4,7 years when the parents answered the questionnaire. They were responding to a questionnaire concerning feelings over a period of three months. The survey that was used in the study consisted of 21 emotional expressions that would be estimated on a Visual Analog Scale (VAS) of 0-10. The results showed that both mothers and fathers of children with DS estimated "happy" highest and "devastated" lowest. "Happy", "angry" and "sorry" was significantly higher in mothers compared to fathers. Fathers estimated "bitter / gloomy" significantly higher than the mothers. Moreover, there were no significant differences between the parents. Both mothers and fathers estimated the positive emotional expressions higher than the negative. The results of the study interpret that mothers and fathers of children with DS are not in need of gender-adapted but personalized support and guidance.
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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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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 for the first time that this combined therapy significantly ameliorates cognitive deficits in mice and young adults with DS, by modifying brain neuronal networks structure and function.Esta Tesis tiene como objetivo examinar el potencial terapéutico de una intervención orientada a mejorar la neuroplasticidad cerebral, propuesta para mitigar la discapacidad intelectual (DI) en el síndrome de Down (SD). La terapia consistió en la administración de la catequina del té verde, Epigalocatequina-3-galato (EGCG), que es un modulador natural de dos genes candidatos que se encuentran en Hsa21, Dyrk1A y APP, en combinación con estimulación cognitiva. La evaluación de la eficacia terapéutica de esta intervención se realizó utilizando un enfoque de la translacional, incluyendo estudios preclínicos con un modelo de ratón de SD y ensayos clínicos con adultos jóvenes con SD. Este trabajo demuestra por primera vez que esta terapia combinada atenúa significativamente los déficits cognitivos en ratones y adultos jóvenes con SD, mediante la modificación de la estructura y función de redes neuronales en el cerebro.
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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."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 their sources of informal support. In two-parent families fathers were perceived as very supportive of their spouses, while in one-parent families the mothers relied on other sources such as friends, neighbours, and extended family for their support.
Urban mothers expressed less satisfaction with formal systems of support than did mothers living in non-urban areas. Findings indicated that perceiving systems of support as supportive may relate to the quality of the services as well as to the availability.Education, Faculty of
Educational and Counselling Psychology, and Special Education (ECPS), Department of
Graduate
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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 their 30s. The molecular mechanism by which AD pathogenesis develops in DS patients is poorly defined. BACE1 is the major β-secretase in vivo. BACE2 is the homolog of BACE1 and located on chromosome 21. In this study, we cloned and functionally characterized BACE2 gene promoter. Our studies show that the BACE2 gene promoter has a higher activity in non-neuronal cells while BACE1 promoter has a higher activity in neuronal cells. Although both can be activated by SP1, the transcription of BACE1 and BACE2 are distinctly regulated. Even though they are homologous in amino acid sequence, BACE1 and BACE2 cleave APP at distinct sites, leading to their opposing functions in AP production. N-terminal sequencing of BACE2 cleavage product shows that the cleavage site of BACE2 in APP is located between the 19th and 20th amino acid of Aβ. Thus, BACE2 is identified as a novel θ-secretase. Overexpression of BACE2 drastically decreases AP production in cells, whereas overexpression of BACE1 greatly increases Aβ production. We and others have shown that Aβ is elevated in brains of DS patients. Our study further shows that β-secretase activity is abnormally increased. Further study reveals that BACE1 protein levels are markedly increased in DS fetal brain tissues. Time-lapse live imaging, cell fractionation, and pulse-chase experiments show that BACE1 accumulates abnormally in the Golgi of DS cells. These data demonstrate that abnormal BACE1 accumulation leads to elevated β-secretase activity and subsequent Aβ deposition in DS patients. Our results provide a novel molecular mechanism by which AD develops in DS and suggest that inhibiting BACE1 or potentiating BACE2 would benefit AD patients.Medicine, Faculty of
Graduate
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Lloyd, Robyn School of Optometry & 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 response to two types of colour pattern, presented in pattern onset-offset mode. The two colour types were intended to preferentially stimulate the two principal chromatic pathways of the visual system, the ???redgreen??? and ???blue-yellow??? colour-opponent pathways. These stimuli are here termed the ???LM??? and ???S-(L+M) stimuli, respectively, reflecting the cone types that input to the pathways they are intended to stimulate. Each subject also completed two subjective colour vision tests, the Colour Vision Test Made Easy (CVTME) and the City University Colour Vision Test (CUT). Morphology of the achromatic and chromatic VEPs was found to differ between the group with Down syndrome and an age-matched control group. The latency of the P100 component of the achromatic VEP was found to be significantly later in the group with Down syndrome compared to the control group (the N75 latency was earlier in the group with Down syndrome, but not significantly so). The group-averaged peak-to-peak amplitude of the achromatic VEP was significantly lower in the group with Down syndrome compared to the control group. The major positive component of the VEP in response to the L-M stimulus was of significantly longer latency compared to that of the control group. The major negative component and the peak-to-peak amplitude of this response were not significantly different between the groups. For the response to S-(L+M) stimuli, the latency of the major negativity was significantly earlier in the group with Down syndrome and the major positivity was later, but not significantly so. Amplitude of this response was significantly higher in adults with Down syndrome compared to the control group. Most subjects in both groups passed both the CVTME and CUT. Our findings indicate that chromatic VEPs are abnormal in Down syndrome, and this may reflect abnormal processing of chromatic stimuli in this population. Alternatively, these abnormalities may arise due to abnormal cortical morphology, which may occur with normal or abnormal processing of chromatic signals. These findings further indicate that abnormality of chromatic VEPs may be expected in Down syndrome, and is not necessarily indicative of pathology or other abnormal function that is unrelated to the syndrome.
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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 number of shortcomings were observed. Therefore, an innovative methodology was employed to address these issues. Contrary to previous research, which argues for an overall inflectional impairment (either syntactically or morphologically conditioned), this dissertation establishes that the vast majority of differences between the two groups are phonetically conditioned. These differences are due to the distinct physiology of the articulation apparatus in CGDS. Furthermore, a small number of phonologically conditioned differences were either due to (i) the phonological environment (syllable structure and word-position) or (ii) phonological feature underspecification. However, there is also a very small residue of differences that are morphologically conditioned. When a produced feature value does not match the target, CGDS and CGTDC exhibit the same three strategies: (i) use of an alternative feature value (as the default) to the targeted one, (ii) affix drop and (iii) full-word omission.
I propose a unified analysis, according to which the morphological differences between CGDS, CGTDC and CGTD are due to a failure of Blocking. The competition between a phonetic exponent that includes (i) all feature values resulting from the syntactic derivation, and (ii) a subset of the features, but no contrasting features, fails to be resolved in favour of the most specified form. I further propose that this may be extended to phonological features. Finally, I propose that full-word and phoneme omissions suggest a problem with vocabulary or sound insertion, which may be rooted in phonological and verbal short-term memory limitations.
In sum, I argue that the adult CGDS Grammar is not an impaired version of the adult CGTD Grammar.
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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 GATA-1 (a transcription factor essential for erythroid/megakaryocytic lineage specification) leading to the exclusive production of a short form of the protein known as GATA-1s. Additional molecular events involved in the progression from TMD to AMKL remain largely unknown. The aim of this project was to shed new light on the critical events involved in the pathogenesis of DS-TMD and AMKL utilizing an innovative in vitro model that mimics Down syndrome, a murine embryonic stem cell line carrying an extra copy of human chromosome 21 (HSA21). Using this transchromosomic ES cell system, I explored the effect of trisomy 21 (t21) on the generation of megakaryocytes in vitro, and showed that trisomic megakaryocyte precursors display increased levels of GATA-1 compared to euploid controls and exhibit the tendency of forming macroscopic colonies without overt GATA1 mutations. Furthermore, I genetically manipulated the transchromosomic ES cell system by retrovirally 4 overexpressing GATA1s and demonstrated that trisomy 21 is required for GATA-1s to exert its full hyperproliferative potential. The influence of the supernumerary HSA21 on the ontogenesis of haematopoietic stem cells (HSCs) from mesodermal precursors was also studied in the transchromosomic system. In this thesis, I present evidence that mesodermal colonies derived from transchromosomic ES cells give rise to an increased number of immature haematopoietic progenitors compared to euploid controls. I demonstrate that at least two independent genes on HSA21 contribute to this effect, and that trisomy of RUNX-1 (a master regulator of primitive haematopoiesis encoded on chromosome 21) is required for an increased haematopoietic commitment from the mesodemal precursors. This thesis shows that t21 influences haematopoiesis (in general) and the megakaryocytic lineage (in particular) at several levels and that it is responsible for an overall increase in levels of immature cells that are targets for acquisition of further leukaemogenic mutations. Finally, in this study I clarify the role of JAK3, a gene whose mutations have been reported in AMKL, in the progression from TMD to AMKL.
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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.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 ethical considerations. The case study shows that this adult with Mosaic Down syndrome and intellectual disability, who is permanently employed in the open labour market, is seen as an asset by the company. Training and support have benefited him and extra supervision and attention needed are minimal. His skills, attitudes, and family support have also enhanced his quality of life. This adult's employment experiences have contributed to a culture of acceptance of and openness to intellectual disability in the formal industrial sector. This is an example of what can be accomplished regardless of intellectual disability. As this is a case study the generalisation of the findings are limited.
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SMITH, ASHLEY LYNN. "THE PERSONAL RELATIONSHIPS OF YOUNG ADULTS WITH DOWN SYNDROME." University of Cincinnati / OhioLINK, 2001. http://rave.ohiolink.edu/etdc/view?acc_num=ucin997900695.
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