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Dissertations / Theses on the topic 'Down’s syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 30 May 2022

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1

Bartish, Margarita. "Establishing iPSCs as a method to model neurodevelopment in Down’s syndrome." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-182353.

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The derivation of pluripotent stem cells (now termed induced pluripotent stem cells, iPSC) from mature somatic cells was a finding of seminal importance to fundamental cell biology. Thus established iPSC technology has been predicted to advance fields that previously relied on the ethically disputed use of embryonic stem cells. Being pluripotent (able to differentiate into every cell type present in the human body) and sharing most other characteristics with embryonic stem cells, but being much readier obtainable and their derivation free from ethical restraints, human induced pluripotent stem cells (hiPSC) provide access to cell types and insights into cell processes previously unattainable to researches. For this thesis, a hiPSC line was established from a skin biopsy donated by a Down’s syndrome patient. Most of what is known today about the molecular neurobiology behind this disease has been gathered from mice models or human post mortem studies, but this has a limited extrapolation potential to early human brain development in DS patients, as Down’s syndrome is an inherently human disease whose defining phenotype is established early during embryonic development. Having access to human pluripotent cells able to recapitulate the events of early neurogenesis is thus invaluable to the understanding of the mechanisms of this disorder. In parallel, work has been performed on optimizing iPSC reprogramming protocol. By exchanging one of the transcription factors used for reprogramming with a reporter gene, genomic integration of reprogramming factors has become possible to be traced visually, enabling more efficient selection of reprogrammed iPSC colonies.
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2

Gunnarsson, Linn. "Bra basketkorgar : En undersökning om inkluderad undervisning i idrott och hälsa." Thesis, Karlstad University, Faculty of Social and Life Sciences, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-1406.

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Att börja på högstadiet och byta både skola och de flesta av sina klasskamrater kan vara positivt såväl som negativt. Det kan vara en chans att hitta nya intressen, eller jobbigt med mycket nya intryck och högre krav. Om man dessutom har särskilda behov, till följd av ett funktionshinder, kan den omställningen bli väldigt krävande om inte skolan klarar av att tillgodose ens behov. När en elev är inkluderad i skolan så innebär det att eleven skall involveras helt och hållet i sammanhanget på samma villkor som sina klasskamrater (Fors 2004). Den här uppsatsen bygger på en fallstudie gjord med kvalitativa intervjuer som handlar om en 13-årig pojke som har funktionshindret Downs syndrom och är inkluderad i årskurs 7. Förutom eleven i fråga har jag intervjuat hans lärare, föräldrar och assistenter för att få en uppfattning om hans fysiska aktivitet i skolan och på fritiden. Syftet med mitt arbete är att undersöka om en elev med funktionshindret Downs syndrom får möjlighet att utvecklas i ämnet idrott och hälsa genom inkludering, och vad den inkluderade undervisningen får för konsekvenser för hans fysiska aktivitet både före och efter skoltid.

De resultat jag har fått visar att eleven i fråga får stor möjlighet att utvecklas genom att han har många klasskompisar att idrotta tillsammans med, men också att titta på och härma. Vidare visar också resultaten att eleven utvecklar en hög självkänsla av att vara inkluderad och att eleven har utvecklats både i ämnet idrott och hälsa och på fritiden sedan årskurs 6.


Starting the senior level of the compulsory school often means changing schools and most of ones classmates, an experience that can be both positive and negative. It can be a chance to find new interests, or a hard time with new impressions and higher demands. If one also has special needs, because of a functional disorder, the change of schools can be very challenging if the school does not have the ability to provide for one’s needs. When a student is included in school, it means that the student shall be fully involved in the situation on the same terms as ones classmates (Fors 2004).This essay is founded on a case study made with qualitative interviews about a 13-year old boy with the functional disorder Down’s syndrome and is included in grade 7. Except for the student in question, I have interviewed his teachers, parents and assistants to form an opinion about his physical activity in school and on his free time. The purpose of my work is to investigate if a student with the functional disorder Down’s syndrome gets the opportunity to develop in the subject physical education by being included, and what consequences the included education has for his physical activity both in and after school.

My results show that the student in question has great opportunity to develop, not only by having many different classmates to work out together with, but also by watching them and imitate. Further more the results show that the student develops high self-esteem by being included, and that he has developed both in the subject physical education and on his free time since grade 6.

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3

Choi, Kin. "Transcriptomic and proteomic analysis of placenta tissue : application to non-invasive prenatal diagnosis and screening of Down’s syndrome." Thesis, University of Bristol, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.559715.

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Prenatal diagnosis of Down's syndrome (OS) requires a invasive procedure to obtain samples for analysis using a diagnostic test but the invasive procedure could lead to miscarriage. This study aimed to identify RNA transcript and protein markers for OS which are present in maternal plasma and serum for. use in a non-invasive prenatal diagnostic (NIPO) or non- invasive prenatal screening (NIPS) test for OS. Affymetrix Human Genome U133 plus 2.0 Arrays and 2-dimensional difference gel electrophoresis (2-D OIGE) were used to provide whole genome and proteome analysis of RNA transcript and protein abundances between first trimester euploid and OS placenta samples. Placenta tissue was used because it contains fetal cells. Reverse transcription real-time polymerase chain reaction (RT R- T peR) was used to validate the amounts of some of the candidate RNA transcripts. The 2-D OIGE experiments found transglutaminase 2 protein present in lower amounts in OS placenta compared to euploid placenta. Furthermore, transglutaminase 2 is suitable for further analysis as a protein target in a quantitative NIPS test for OS because there are low levels of expression of TGM2 in maternal tissues relative to fetal and maternal tissues and therefore TGM2 could be affected only very slightly by the 'masking effect'. The results from the microarray experiment provided evidence of a 45.6% fold increase in expression of genes located in chromosome 21 in the OS samples compared to the euploid samples which is evidence of the 'primary gene dosage effect'. The primary gene dosage effect proposes a 50% increase in expression from genes located in chromosome 21 in OS tissue as a consequence of the 50% increase in the number of copies of chromosome 21 in the cells of the OS tissue. A bioinformatic approach was also used to identify SNPs for use in the RNA-SNP strategy for NIPS of OS.
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4

Gonçalves, Genita Sónia Spínola. "A importância da intervenção precoce na criança com Síndrome de Down." Bachelor's thesis, [s.n.], 2016. http://hdl.handle.net/10284/5495.

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Projeto de Graduação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de licenciada em Enfermagem
A elaboração deste projeto de investigação resulta de uma preocupação pessoal e profissional em relação à importância da intervenção precoce em crianças com Síndrome de Down. Para isso propusemo-nos investigar a importância que os pais destas crianças atribuem à intervenção precoce no âmbito do desenvolvimento psicomotor, cognitivo e da linguagem, assim como os recursos que a sociedade lhes oferece de modo a que consigam uma maior autonomia. As crianças portadoras de Síndrome de Down necessitam de todo um trabalho multidisciplinar, incluindo os pais, para que se possam desenvolver com maior estabilidade e harmonia. Estas crianças apresentam, problemas derivados da sua alteração genética que constituem um desafio para o seu desenvolvimento, tais como problemas físicos, sociais e cognitivos entre outros. Estas dificuldades podem ser ultrapassadas intervindo o mais precoce possível o que lhes permitirá no futuro ter uma maior autonomia e melhor qualidade de vida. A metodologia utilizada teve um carater exploratório descritivo com base numa abordagem qualitativa. A amostra foi constituída por 12 pais (biológicos e adotivos), de crianças portadoras de SD aos quais foram realizadas entrevistas semiestruturadas para a obtenção dos dados a analisar e interpretar. Os resultados do nosso estudo sugerem, que os pais atribuem grande importância à intervenção precoce, mas referem que as instituições públicas não estão disponíveis para a oferecer, sendo necessário o recurso à terapia privada o que reduz a possibilidade dos pais com mais baixos recursos poderem recorrer a estes serviços, comprometendo desta forma o futuro dos seus filhos o que representa para estes pais uma preocupação constante.
The elaboration of this investigation results from a personal and professional concern about the importance of early intervention in children with Down´s syndrome. For this we set out to investigate the importance that the parents of these children attribute to early intervention in the psychomotor, cognitive and language, as well as the resources that society offers them so they can become independent in the future. Children with Down’s Syndrome need great teamwork from all areas of care, this also includes the parents, so they can develop with greater stability and harmony. These children have, problems derived from their genetic change that pose a challenge to their development, such as physical, social and cognitive problems among others. These difficulties can be overcome by intervening as early as possible which will enable them in the future to have greater autonomy and better quality of life The methodology used was a descriptive exploratory character based on a qualitative approach. The sample consisted of 10 parents of children with DS to which semi-structured interviews were conducted to obtain the data to be analyzed. The results of our study suggest that parents attribute great importance to early intervention, but refer that public institutions are not always available for everyone everywhere, requiring the use of private therapy which reduces the possibility of parents with low income to use these services, thus compromising the future of their children which is for these parents a constant concern.
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5

Almeida, Bruna Rocha de. "Interações fraternais em famílias de crianças e adolescentes com síndrome de Down." Universidade Federal de Juiz de Fora, 2014. https://repositorio.ufjf.br/jspui/handle/ufjf/795.

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Este estudo teve como objetivo descrever as interações fraternais em famílias de crianças e adolescentes com síndrome de Down (SD), focalizando a qualidade, a estrutura, o conteúdo e as categorias de comando e de responsividade. Participaram 10 díades de irmãos, tendo um o diagnóstico de SD e seus genitores. Os dados foram coletados na residência das famílias em três fases, incluindo: preenchimento do Questionário de Caracterização do Sistema Familiar, realização de entrevistas semi-estruturadas e gravação em vídeo de sessões de observação da díade de irmãos. Os resultados demonstram uma variedade no modo de vida das famílias, bem como na percepção dos genitores e irmãos acerca das relações familiares. Os participantes apresentaram uma percepção positiva da relação fraternal. Durante as sessões de observação, os irmãos se envolveram, principalmente, em atividades lúdicas de forma ‘Conjunta’, com ‘Amistosidade’, ‘Sincronia’, ‘Supervisão’ e ‘Liderança’ dos irmãos com desenvolvimento típico (DT). Os comportamentos de comando foram mais emitidos pelos irmãos com DT, enquanto os irmãos com SD emitiram predominantemente os comportamentos de responsividade. Destaca-se a importância de investigar a inter-relação entre os diferentes subsistemas familiares para a melhor compreensão das relações desenvolvidas na família.
This study aimed to describe sibling interactions in families of children and adolescents with Down’s syndrome (DS), focusing on the quality, structure, content and categories of command and responsivity. It took part in the research a total of 10 dyads of brothers, one with a DS diagnosis, and their parents. Data were collected in the families' homes in three phases, including: filling out the Questionnaire of Family System Characteristics, conducting semi-structured interviews, and video recording of the observation sessions of the siblings’ dyads. The results show an assortment in the living standards of families, as well as the perception of the parents and siblings about family relationships. The participants had a positive perception of the sibling relationship. During observation sessions, the brothers engaged mainly in recreational activities so as 'Joint', with 'Friendliness', 'Synchrony', 'Supervision' and 'Leadership' of the sibling with typical development (TD). Behaviors of command were more issued by the sibling with TD, while the sibling with DS issued predominantly behaviors of responsivity. Stands out the importance of investigating the interrelationship between the different family subsystems to a better understanding of the relationships developed in the family.
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6

Almeida, Bruna Rocha de. "Famílias com filhos com síndrome de Down: uma análise sistêmica dos subsistemas conjugal e fraternal." Universidade Federal de Juiz de Fora (UFJF), 2018. https://repositorio.ufjf.br/jspui/handle/ufjf/7150.

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O nascimento de uma criança com síndrome de Down (SD) pode trazer implicações ao funcionamento familiar e às relações estabelecidas entre os membros familiares. A literatura indica que os genitores de filhos com SD apresentam bons níveis de satisfação conjugal e índices de ajustamento conjugal semelhantes àqueles com filhos com desenvolvimento típico (DT). Além disso, a relação fraternal nessas famílias tem sido descrita como sendo positiva, com características de amizade, afeto, companheirismo e sincronia. Há a tendência de o irmão com DT assumir a liderança durante os episódios interativos, apresentando comportamentos diretivos em relação ao irmão com SD. Este estudo teve como objetivo descrever a qualidade das relações conjugais e fraternais em famílias com filhos com SD e as possíveis associações entre a qualidade dessas relações, a partir da perspectiva sistêmica. Foram participantes 17 famílias, sendo quatro compostas por pai, mãe e um filho biológico com o diagnóstico de SD e 13 famílias compostas por pai, mãe, um filho biológico com SD e pelo menos um filho com DT. Os dados foram coletados na residência das famílias e incluíram os seguintes instrumentos e técnicas: Questionário de Caracterização do Sistema Familiar, Entrevistas semiestruturadas, Escala de Ajustamento Díadico, Observação das interações entre as díades conjugais com utilização do vídeo, Questionário de Irmãos e Questionário de Relações Fraternais. Os resultados demonstram que as relações conjugais são caracterizadas como amistosas e ajustadas, com bons níveis de consenso, coesão, satisfação e expressão de afeto. As interações são marcadas pela proximidade e pelo clima amigável entre o casal. Ambos os cônjuges tendem a participar de forma ativa e igualitária na discussão, valorizando e reconhecendo a posição e as ideias um do outro. Já as relações fraternais são caracterizadas pela afetuosidade, proximidade e companheirismo, com baixos níveis de conflitos e rivalidade. Os irmãos com DT assumem a postura de irmão mais velho e têm comportamentos de cuidado e proteção com o irmão com SD. Observou-se associação positiva entre a coesão diádica conjugal e a amorosidade/proximidade entre os irmãos. Ademais, as esposas de casais desajustados percebem um maior nível de rivalidade na relação fraternal de seus filhos. Já os irmãos nas famílias de casais desajustados avaliam sua relação com seu irmão com SD como tendo um maior nível de conflito do que aqueles nas famílias de casais ajustados. Destaca-se a importância da realização de estudos longitudinais que utilizem abordagem multimetodológica e que investiguem a inter-relação entre os diferentes subsistemas familiares para a melhor compreensão das relações desenvolvidas nas famílias de pessoas com SD.
The birth of a child with Down’s syndrome (DS) may have implications at family functioning and relationships established among family members. The literature indicates that parents of children with DS have good levels of marital satisfaction and similar levels of marital adjustment of parents of children with typical development (TD). In addition, the sibling relationship in these families has been described as positive, with characteristics of friendship, affection, companionship and synchrony. There is a tendency that the sibling with TD take the lead during the interactive episodes, presenting directive behaviors over the sibling with DS. This study aims to describe the quality of marital and sibling relationships in families with children with DS and the possible associations of the quality of these relationships, from the systemic perspective. The participants of this study were 17 families, four of them composed of father, mother and biological child with diagnosis of DS and 13 families composed of father, mother, biological child with SD and at least one child with TD. Data were collected in the families' homes and included these instruments and techniques: Questionnaire for Characterizing the Family System, semi-structured interviews, Dyadic Adjustment Scale, Observation of interactions between marital dyads using video technology, Sibling’s Questionnaire and Sibling Relationship Questionnaire. The results demonstrate that the marital relationships are characterized as friendly and adjusted, with good levels of consensus, cohesion, satisfaction and affectional expression. The interactions are marked by proximity and friendly atmosphere between the couple. Both spouses tend to participate actively and equitably in the discussion, valuing and recognizing one's position and ideas of each other. The sibling relationships are characterized by affection, closeness and companionship, with low levels of conflict and rivalry. The siblings with TD assume an older sibling's posture and have caring and protective behaviors with the sibling with DS. There is a positive association between dyadic conjugal cohesion and warmth/closeness between siblings. The wives of couples with inadequate adjustment perceive more rivalry in the sibling relationship of their children. Whereas the siblings in the families of couples with inadequate adjustment evaluate their relationship with their sibling with DS as having more conflicts than in families with adjusted couples. It is important to conduct longitudinal studies that use the multi-method approach and investigate the interrelationship between the different family subsystems to better understand the relationships developed in the families of people with DS.
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7

Педан, Л. Р., В. О. Галаган, Е. М. Омельченко, Г. О. Качко, О. О. Полька, and О. І. Тимченко. "Синдром Дауна як основна хромосомна нозологія у новонароджених." Thesis, Сумський державний університет, 2017. http://essuir.sumdu.edu.ua/handle/123456789/64199.

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Among the chromosomal pathology of newborns in Kyiv and the Kyiv region, Down syndrome is most common. In most of the cariologically confirmed cases of this disease, a regular trisomy-21 manifests itself (90,5 %). Women aged 30 and over have a high chance of giving birth to a child with this indicator of congenital malformation (70,83 %).
Wśród patologii chromosomalnej noworodków w Kijowie i regionie Kijowa najczęstszym jest zespół Downa. W większości potwierdzonych cariologicznie przypadków tej choroby pojawia się regularny trisomia-21 (90,5 %). Kobiety w wieku 30 lat i starszych mają dużą szansę (70,83%), aby mieć dziecko z tym wskaźnikiem wad wrodzonych.
Одним із пріоритетних напрямків у галузі медичної науки є епідеміологічні дослідження, спрямовані на оцінку стану здоров’я населення та визначення чинників ризику для подальшого усунення їх впливу. Підкреслюючи їх актуальність у вивченні спадкових і вроджених хвороб, можна зауважити, що вроджені вади розвитку (ВВР) становлять значну частку в загальній структурі перинатальної і дитячої смертності та інвалідності [1].
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Lindström, Malin, and Anette Svensson. "Barn som har Downs syndrom och deras skolgång : föräldrarnas möjlighet att välja skolform och hur de ser på sina barns skolgång." Thesis, Högskolan i Gävle, Avdelningen för kultur-, religions- och utbildningsvetenskap, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-10727.

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Sammanfattning Samarbetet med föräldrar är en viktig faktor för att barnens förskoletid och skolgång ska bli så bra som möjligt. Utifrån detta är syftet med vårt examensarbete att få en inblick i hur föräldrar till barn som har Downs syndrom ser på sina barns skolgång. Vår frågeställning lyder:  Vilken möjlighet att välja skolform för sina barn upplever de föräldrar som svarat på enkäten att de har?  Hur ser de föräldrar som svarat på enkäten på sina barns skolplacering?  Om de föräldrar som svarat på enkäten hade möjlighet att välja, vad avgjorde deras val?  Har barnens födelseår någon påverkan för hur föräldrarna har svarat? För att få svar på våra frågor valde vi att använda oss av en enkät. Enkäten lämnades ut till 32 stycken familjer och av dessa var det fem föräldrar som svarade. Bland de fem svar vi fick var det tre barn som var integrerade elever i grundskolan och två som gått inom träningsskolan. De föräldrar som haft sina barn inom träningsskolan gav svar som visade på ett totalt missnöje med barnens skolgång, medan de som hade barn inom grundskolan gav positiva svar. Barnens födelseår hade påverkan på föräldrarnas möjlighet att välja skolform.
Abstract Cooperation with parents is an important factor to make the children’s preschool and schooling as good as possible. The purpose of our thesis is to gain an insight into how parents of children with Down syndrome see at their children's schooling. Our questions are: What possibilities for choice of school for their children perceive the parents who responded to the questionnaire that they have? How do these parents regard their child’s school allocation? If any of the parents had a say in the placing of their child what was the deciding factor for their choice? Has the children’s year of birth impact on how parents have responded? In order to get an answer to our questions, we chose to use a questionnaire. The questionnaire was sent out to thirty-two families and of these, there were five who answered. Among the five answers we received were three children who were integrated pupils in primary school and two who were enrolled in the training school. The parents who had their children in the training school gave answers that indicated a total dissatisfaction with their children’s schooling, while those who have children in elementary school gave a positive response. The children’s year of birth had impact at the parents’ opportunity of the selection of school form.
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9

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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10

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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11

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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12

Steele, Jonathan. "Prevalence of Down's Syndrome." Thesis, University of Nottingham, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.280041.

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13

Campbell, Stephanie. "Keratoconus in Down's syndrome." Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/99603/.

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Keratoconus is a primary cause of visual impairment in young people in the UK. Corneal cross-linking is a recently-introduced treatment for halting progression of keratoconus, which is more effective in early cases. It has long been observed that keratoconus is significantly more prevalent in those with Down’s syndrome (DS) when compared to the general population. Moreover, young people with Down’s syndrome are less able to report early symptoms of keratoconus, often presenting late to eye clinics when cross-linking is no longer possible. A cohort of children and young people with DS were examined with the aim of discovering optometric correlates of keratoconus and to establish the utility of these parameters as risk factors for identifying keratoconus in primary care. An abnormal retinoscopy reflex was found to be the earliest indicator of keratoconus, showing greater potential as a screening test than either refractive error or objective vision measurement. The cornea of individuals with DS is known to be thinner and steeper than usual. Despite this, the high prevalence of keratoconus in DS has long been attributed to eye-rubbing, despite the inherent difference in baseline shape. The current work revealed no relationship between eye rubbing and the development of keratoconus in DS eyes. In vivo biomechanical analysis demonstrated an increased deformation tendency in DS eyes vs. controls, largely accounted for by the decreased corneal thickness in the test group. These results suggest that the high prevalence of keratoconus in DS originates from biomechanical weakness, permitting the loss of regular corneal shape in the absence of eye rubbing. However, ultrastructural analysis of the cornea of the Tc1 mouse model of DS revealed an unaltered collagen and proteoglycan structure. Topographical examination of ‘cone’ morphology in individuals with and without DS demonstrated a similar phenotype at all stages of the disorder, indicating that people with DS and keratoconus may be a useful cohort for future genetic studies into keratoconus as a whole.
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14

Pettersson, Kamilla, and Jessica Ståhl. "Att bli förälder till ett barn med Downs Syndrom : En studie av självbiografier." Thesis, University of Skövde, School of Life Sciences, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-2632.

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Målet med den här studien var att beskriva upplevelsen av att få ett barn med Down Syndrom. Vi valde att använda oss av självbiografier då det inte har gjorts så många kvalitativa studier inom detta ämne i Sverige. Vår kvalitativa innehållsanalys följer modellen: Att analysera berättelser (Friberg, 2006). Resultatet blev åtta teman: Personalens påverkan i samband med förlossningen, ovisshet och oro vid den första misstanken, upplevelser i samband med beskedet, upplevelse av skuld, flykt och misslyckande, upplevelse av sorg och smärta, omgivningens reaktioner och påverkan, fördomar och oro inför framtiden och så blev vardagen. Resultatet visar att nyblivna föräldrar till barn med Downs Syndrom har ett stort behov av stöd från omvårdnadspersonalen. Föräldrarna beskriver en väldigt påfrestande situation som kräver uppmuntran från omgivningen. De beskriver också svårigheter med att hantera de egna fördomarna. Omvårdnadspersonal bör känna till hur viktigt det är med adekvat information om Downs Syndrom. Föräldrarna behöver detta för att bearbeta sina förutfattade meningar men också för att delge denna information till släktingar och vänner. Genom en god förståelse för hur föräldrarna upplever sin situation kan omvårdnadspersonal bättre tillgodose föräldrarnas behov.


 

The aim of the study was to describe the experience of becoming a parent to a child with Down Syndrome. We chose to analyse autobiographies since there are few qualitative studies made in Sweden in this area. To do our qualitative content analysis we used Fribergs (2006) method to analyse narratives, which resulted in eight themes: The nursing staff's impact during and after childbirth, uncertainty and dread at the first suspicion, experiences in connection with the reply, to experience feelings of blame and escape and failure, to experience sorrow and pain, reactions and impact from the environment, prejudices and dread for the future and everyday existence. The results indicates that becoming a parent to a child with Down Syndrome means a great need of support from the nursing staff. The parents describe a very stressfull situation that requires encouraging from the environment. They also describe difficulties in handling their own prejudices. Nursing staff should know how important it is with adequate information about Down Syndrome, the parents need it to control their prejudices and also inform their relatives and closest friends. By understanding this situation nursing staff can meet the parents needs and requirements.

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15

Aniceto, Gabriela. "Levantamento de repertório de linguagem em crianças pequenas com síndrome de Down." Universidade Federal de São Carlos, 2017. https://repositorio.ufscar.br/handle/ufscar/9300.

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Down’s syndrome is defined by its genetic component. There is a set of anatomophysiological commitments that interfere in these children development, especially in language development. To evaluate this instruments and tests were developed, and they may auxiliate in the early detection of possible risks, identifying their potential and making interventional procedures easier. The main goal of this research was to characterize global language development repertoire in children younger than 48 months with Down’s syndrome, with the specific goal of comparing the contributions of Denver’s II Test of Triage Development, Portage’s Operationalized Inventory and Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) for the assessment and characterization of children’s younger than 48 months with Down’s syndrome linguistic repertoire. Participated on this research one boy and three girls with Down’s syndrome between the ages of 14 and 46 months old, whom frequented a public daycare and/or a specialized school in a city in São Paulo’s countryside. The evaluations were made through direct observation and interaction with participants. The evaluation sessions happened in the institutions frequented by the children and had the duration of 1 (one) hour. The number of meetings with each child variated. The sessions were composed of activities required by Denver’s II Test of Triage Development, Portage’s Operationalized Inventory and Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP). With the legal responsible were made presential interviews for the filling of both Brasil’s Criteria Questionnaire and Anamnese Record. Regarding global development, although the children in this study had different ages, they presented similar repertoire and bellow the expected for their age range. The development bellow their age range was also verified regarding the language area. Regarding the instruments used, concludes that they complement each other, and make it possible to verify required abilities in a more specific way. The assessed evaluations matched the literature, pointing that children with Down’s syndrome tend to present a different development from the one seen in children without deficiency in all evaluated areas. The findings obtained with the instruments used allowed to verify the installed development and the potential of the participating children, favoring the elaboration of interventional programs considering the specificities of each children with Down’s syndrome. However, for the deeper comprehension of these children’s development, it is necessary new studies and the use of other instruments.
A síndrome de Down é definida pelo seu componente genético. Há um conjunto de comprometimentos anatomofisiológicos que interferem no desenvolvimento dessas crianças, em especial no desenvolvimento da linguagem e da fala. Para avaliação do desenvolvimento existem instrumentos e testes que podem auxiliar na detecção precoce de possíveis riscos, identificando o seu potencial e facilitando procedimentos de intervenção. O objetivo geral dessa pesquisa foi o de caracterizar o repertório de desenvolvimento da linguagem de crianças com síndrome de Down, menores de 48 meses, em relação ao seu repertorio global e o objetivo específico foi o de cotejar as contribuições do Teste de Triagem de Desenvolvimento de Denver II, do Inventário Portage Operacionalizado e do Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) para o levantamento e caracterização do repertório de linguagem de crianças com síndrome de Down menores de 48 meses. Participaram da pesquisa um menino e três meninas com síndrome de Down, com idade entre 14 a 46 meses, que frequentavam uma creche pública e/ou uma escola especializada de uma cidade do interior de São Paulo. As avaliações foram realizadas por meio de observação direta e interação com os participantes. As sessões de avaliação tinham duração de 1 hora e ocorreram nas instituições que as crianças frequentavam. O número de encontros com cada criança foi variável. As sessões eram compostas de atividades requeridas pelo Teste de Triagem de Desenvolvimento de Denver II, Inventário Portage Operacionalizado e VB-MAPP. As entrevistas presenciais foram realizadas com os responsáveis para preenchimento do Questionário Critério Brasil e da Ficha de Anamnese. As crianças participantes desse estudo apresentaram o repertório de desenvolvimento global e da linguagem semelhante e aquém do que esperado para a faixa etária, embora tivessem idades diferentes. Em relação aos instrumentos utilizados, conclui-se que esses se complementam, pois apresentam tarefas diversificadas mas que avaliam uma mesma área do desenvolvimento. Os três instrumentos empregados em conjunto possibilitam verificar as habilidades requeridas para a aquisição da linguagem e da fala de modo mais específico. As avaliações levantadas foram ao encontro aos dados da literatura, indicando que crianças com síndrome de Down tendem a apresentar um desenvolvimento diferente daquele visto em crianças sem deficiência em todas as áreas avaliadas. Os achados obtidos com os instrumentos empregados permitiram verificar o repertório atual da criança, favorecendo a elaboração de programas de intervenção e considerando as especificidades de cada criança com síndrome de Down. Entretanto, para uma compreensão aprofundada do desenvolvimento dessas crianças são necessários novos estudos e uso de outros instrumentos.
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16

Ross, Kate. "Memory, aging and Down's Syndrome." Thesis, University of Reading, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317605.

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17

Murray, Marion Frances. "'Ups and downs' : juggling the uncertainty of parental disclosure of Down's syndrome to their sons and daughters." Thesis, Bangor University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.323104.

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18

Jönsson, Rose-Marie, and Malin Odlingson. ""Det är ju normalperspektivet som han ska anpassa sig till, så det försöker vi ju anpassa honom till" : En studie om föräldraskap då barnet har Downs syndrom." Thesis, Växjö University, School of Health Sciences and Social Work, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:vxu:diva-6929.

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Vi har genomfört en kvalitativ intervjustudie om föräldrars erfarenheter av en vardag tillsammans med ett barn som har Downs syndrom, i synnerhet när det gäller barnets ungdomstid. Den insamlade empirin har tolkats med hjälp av Beckers (2006) teori om avvikelse, Goffmans (2001) teori om stigma samt Goffmans (2009) teori om interaktion i det vardagliga sociala livet. Föräldern ingår i ett allmänt system av normalitet, såsom övriga samhällsmedlemmar. Studiens fokus ligger på förälderns agerande utefter detta i förhållande till den situation som barnets funktionsnedsättning för med sig. Downs syndrom medför en utvecklingsstörning, vilket innebär att barnets kroppsliga och mentala utveckling inte alltid är i fas med varandra. En följd av detta är att småbarns- och ungdomstiden förlängs, vilket föräldrarna i vår studie upplever som en svårighet. Svårigheten ligger bland annat i att barnets självständighetsutveckling skiljer sig från det som i allmänhet anses vara normalt och därmed skiljer sig även förälderns roll i denna utveckling. Studien visar att föreställningar om normalitet ständigt är närvarande i föräldrarnas berättelser.


We have made a qualitative interview study about parents' experiences of every day life with a child who has Down syndrome, particularly with regard to the child's youth. The empirical data collected has been interpreted using Becker's (2006) theory of deviance, Goffman's (2001) theory of stigma and Goffman's (2009) theory of interaction in everyday social life. The parent are included in a general system of normality, just as any other member of society. The focus of the study is parent's acting in relation to normality and to the situation that the child's disability causes. Down syndrome results in a development disorder, which means that child's physical and mental development not always is in phase with each other. This causes an extension of the childhood and youth, which the parents in our study perceive as difficult. The difficulty lies among other things in that the child's development of independence differs from what is generally considered to be normal and that the parent's role in this development consequently also differs. The study shows that ideas of normality are constantly present in the parents' narratives. 

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19

Kingsbury, Moore Lois Joy. "Reference and representation in Down's syndrome." Thesis, University of Plymouth, 1996. http://hdl.handle.net/10026.1/2522.

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Previous research has highlighted a different pattern in the use of grammatical forms to successfully maintain coherent discourse by individuals with Down's syndrome. To maintain coherent discourse both linguistic and non-linguistic information must be integrated and maintained in a mental representation of current discourse. The ability of children with Down's syndrome to use such a mental representation has been assessed in this study. The ability of adults with Down's syndrome to comprehend and produce a range of grammatical forms was initially assessed, using a grammaticality judgement task, an imitation task, and a spontaneous speech sample. Results indicated that the production and comprehension of pronouns was found moderately difficult. The successful use of a pronoun depends on the ability to use a mental representation to retain information about its antecedent in order to assist correct interpretation and avoid ambiguity. A narrative task was used to investigate the use of referential forms by children with Down's syndrome and typically developing children. The effects of certain contextual features on the use of referential forms were investigated: the status of each character and the number of characters in the story; the method of presenting the story; and the position of a listener while the story was narrated. When narrating a story typically developing children distinguished the status of characters in the stories by consistently using different referential forms for each. As age increased this strategy was used more successfully and flexibly. Children with Down's syndrome did not use referential forms in the same way as typically developing children. It is likely that this is a consequence of a difficulty in maintaining information about the whole story-where many sources of information must be accessed, integrated and maintained in a mental representation. At a local level within the story, children with Down's syndrome used referential strategies successfully, demonstrating an ability to integrate limited amounts of information about characters in a story. The inability to maintain information in a mental representation across longer periods of discourse indicates the importance of short term memory in language production.
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20

Bertilsson, Sara, and Ida Larsson. "UPPLEVELSEN AV ATT VARA FÖRÄLDER TILL ETT BARN MED DOWNS SYNDROM : En kvalitativ litteraturstudie." Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-74711.

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Bakgrund: Downs syndrom är en funktionsnedsättning till följd av en extra kromosom 21. Orsaken till diagnosen är oklar men sannolikheten ökar vid en kvinnans stigande ålder. Föräldrar till ett barn med Downs syndrom är i stort behov av stöd från närstående och professionellt stöd från vården. Många gånger beskrivs stödet från familj och närstående som stresslindrande medan vårdpersonalens stöd upplevs som otillräckligt.     Syfte: Syftet var att belysa upplevelsen av att vara förälder till ett barn med Downs syndrom.   Metod: En kvalitativ litteraturstudie valdes som metod. Sökningar efter vetenskaplig litteratur gjordes i databaserna Cinahl och PubMed. Analysmetoden som användes var en manifest innehållsanalys. Efter bearbetning och kvalitetsgranskning inkluderades tio artiklar till resultatet.   Resultat: Chock, sorg och oro var representativt hos samtliga föräldrar. Föräldrarnas livsvärld förändrades. Det visade sig att acceptans hos föräldrarna var en viktig faktor för att i större utsträckning kunna uppskatta livet som förälder till ett barn med Downs syndrom.   Slutsats: När ett barn föds som inte överensstämmer med föräldrarnas förväntningar tenderar livsvärlden att förändras. Föräldrarna kunde successivt se det unika och fantastiska med det som till en början verkade skrämmande. Den kärlek som barnet ger beskrevs som något utöver det vanliga, något fantastiskt annorlunda.
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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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22

NOGUEIRA, Marineide Meireles. "Avaliação da Psicomotricidade no Processo Ensino-Aprendizagem de Criança com Síndrome de Down na Educação Infantil." http://www.teses.ufc.br, 2007. http://www.repositorio.ufc.br/handle/riufc/3650.

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NOGUEIRA, Marineide Meireles. Avaliação da psicomotricidade no processo ensino-aprendizagem de criança com síndrome de Down na educação infantil. 2007. 164f. Dissertação (Mestrado em Educação) – Universidade Federal do Ceará, Faculdade de Educação, Programa de Pós-Graduação em Educação Brasileira, Fortaleza-CE, 2007.
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The study was established using a field research, by using exploratory and descriptive methods, with the purpose to evaluate the accomplishment of the psychomotricity praxis in the teaching learning process and the interaction of children with Down’s Syndrome in Infant Education, according to their teachers. The research was developed between February and June 2007 with 10 teachers from the Elementary School, Fortaleza (Brazil), and 6 parents of Down’s Syndrome children with ages between 2 and 8 years old. The tool used was a half-structuralized questionnaire applied to the teachers and anamnesis questionnaire applied to the parents. The data had been grouped through the Statistical Package for the Social Sciences (SPSS) program for Windows, version 13.0. it was used content analysis that allows inferences on the acquired data. The research showed that a hundred percent of the teachers known the psychomotricity praxis and most of them use it as a teaching tool in the interaction and learning process. The psychomotor elements are elaborated in the functional and relational aspects, in which advantages reflect on the improvement of social interaction and the psychomotor development of the children. The biggest difficulty presented by the children refers to the language, related to speaking, reading and writing. The questionnaire answered by the parents shows the total or partial unfamiliarity of the Down’s Syndrome before the birth of the children. The research concluded that the psychomotor praxis helps on the learning process and the children’s interaction, reflecting on their development, specially when applied on the first few months of life.
O estudo se constituiu de uma pesquisa de campo, de caráter descritivo e exploratório, numa abordagem quanti-qualitativa, com a finalidade de avaliar a efetivação da práxis psicomotora no processo ensino-aprendizagem e interação de crianças com Síndrome de Down, na educação infantil, segundo a fala dos professores. A pesquisa desenvolveu-se entre fevereiro e junho de 2007, com o universo de 10 professores de Escolas de Educação Infantil, sediadas em Fortaleza, e 6 pais de crianças com Síndrome de Down, em processo de escolaridade, com idade entre 2 e 8 anos. Os instrumentos de informações foram um questionário semi-estruturado aplicado com os professores e, um questionário de explicitação – anamnese, realizado com os pais. Os dados foram agrupados estatisticamente através do programa Statistical Package for the Social Sciences – SPSS for Windows, versão 13.0. Para análise dos dados no que se refere às informações qualitativas utilizou-se a análise de conteúdo, que permite fazer inferências sobre os dados obtidos. A pesquisa revelou que 100% das professoras conhecem a Psicomotricidade, com a maioria utilizando-a como ferramenta pedagógica na interação, e na aprendizagem. Os elementos psicomotores são trabalhados, distribuídos pelos diferentes componentes funcionais e relacionais, cujas vantagens se refletem em melhorias no aspecto relacional, interação social e desenvolvimento psicomotor das crianças. No tocante às características afetivas e sociais, 90% das crianças mantêm vínculo de afetividade com a professora. As maiores dificuldades apresentadas pelas crianças se referem à linguagem, envolvendo oralidade, leitura e escrita. A annamnese com os pais revelou o desconhecimento total ou parcial sobre a Síndrome de Down antes do nascimento das crianças. Concluiu-se que o emprego da psicomotricidade ajuda na aprendizagem e interação das crianças, influenciando em todas as esferas do desenvolvimento, especialmente quando a estimulação psicomotora precoce é aplicada desde os primeiros meses de vida.
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Ji, Ping. "Ocular morphology in people with Down's syndrome." Thesis, Cardiff University, 2006. http://orca.cf.ac.uk/55448/.

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The study describes the morphology of eyes in children and adults with Down's syndrome (DS) including ocular biometric parameters (axial length, cornea, anterior chamber, lens and pupil size) and retinal features. There was no significant difference in the correlation of axial length and refraction between DS children (n=46) and controls (n=50). Children with DS (n=18) and adults with DS (n=10) have significantly thinner corneas both in the centre and periphery, smaller corneal radius, higher corneal power, higher corneal aberration and lower lens power compared to their respective control children (n=28) and adults (n=16). Further, in spite of abnormal ocular parameters, refraction in people with DS appeared to be determined by a similar correlation between those parameters as in controls. A larger disc and rim were found in children with DS (n=17) compared to controls (n=28). An increased number of vessels were found in periphery of the retina in children with DS. However, there was a similar distribution of retinal vessels in DS children (n=31) and controls (n=40). The presence of the peripapillary atrophy in children (67%) was much higher than that of controls (28%). No significant correlation was found between the total number of vessels and visual function such as refraction, visual acuity and accommodation among children with DS. Keratoconus was present in 8 adults with DS, however, no keratoconus was found in children with DS but abnormal corneal topography was more common in children with DS compared to that in controls.
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Wallace, Euan Morrison. "Inhibins in normal and Down's Syndrome pregnancies." Thesis, University of Edinburgh, 1997. http://hdl.handle.net/1842/22716.

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This thesis describes a series of clinical and laboratory studies examining the value of inhibins as novel prenatal markers of Down's syndrome. Inhibins are a family of glycoprotein proteins identified in gonadal tissue but known to be secreted by the placenta in pregnancy. The ontogeny of inhibin secretion in early pregnancy is described in detail comparing various pregnancy compartments in both normal and Down's syndrome pregnancies. It is shown that maternal serum levels of inhibin-A, one of two possible full processed inhibin dimers, are significantly elevated in Down's syndrome in both the first and second trimesters of pregnancy. Furthermore, mathematical modelling studies with other established prenatal markers (maternal age, human chorionic gonadotrophin and alpha fetoprotein) suggests that inhibin-A could increase second trimester detection rates by as much as 20%. Studies on amniotic fluid revealed that, unlike maternal serum in which only inhibin-A is detectable, both dimers, inhibin-A and inhibin-B, were present raising the possibility that the fetal membranes secrete significant amounts of inhibin. The lack of relationship between inhibin-A levels in paired serum and amniotic fluid samples supported this hypothesis, representing a significant re-appraisal of the previous understanding of inhibin biology in pregnancy. Studies of the amniotic fluid inhibin levels in Down's syndrome showed that inhibin-A levels are significantly lower than normal, the opposite of serum. This suggests that the fetal membranes not only secrete different inhibins from the placenta but that the secretion is differentially controlled. These studies have therefore described, in detail, the biology of specific inhibin forms in normal and aneuploid pregnancy demonstrating inhibin-A to be the second most valuable serum marker of Down's syndrome. Novel insights into normal placental endocrinology have also been afforded by the studies with the promise of new initiatives in Down's syndrome screening and conditions with related endocrinology.
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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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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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Tucker, Helena. "Self-understanding in adolescents with autism spectrum conditions, Down's syndrome and Williams syndrome." Thesis, University of Liverpool, 2015. http://livrepository.liverpool.ac.uk/2030699/.

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Self-understanding is a fundamental aspect of psychological functioning. This study aimed to explore self-understanding in adolescents with autism spectrum conditions (ASC), adolescents with Down syndrome (DS) and adolescents with Williams syndrome (WS). The Self-understanding Interview was used to examine the verbal concepts and opinions of self of 45 adolescents (15 ASC, 15 DS and 15 WS). Adolescents with ASC generated significantly fewer social statements compared with adolescents with WS. There was a close comparability between adolescents with ASC, DS and WS on the number of self-as-object self-statements indicating similarities in the overall development of self-concept. The development of social self-understanding and its implications were discussed. The need for individually tailored interventions enhancing social skills promoting positive self-concept is highlighted.
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Manikam, Logan Nishant. "Respiratory tract infections in children with Down's Syndrome." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/1561679/.

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BACKGROUND: Children with Down’s Syndrome (DS) are prone to respiratory tract infections (RTIs), yet there is little evidence to guide clinical practice. AIMS: For children with and without DS, this thesis aims to use routinely collected data to identify RTI-related healthcare utilisation, those most at risk of RTI-related healthcare utilisation, and the effects of antibiotics in preventing RTI-related hospitalisation. METHODS: A systematic review of existing interventions and a retrospective cohort study based on routinely collected primary and secondary care data (CALIBER). KEY FINDINGS: The CALIBER cohort comprised 992 children with DS and 4874 controls. Children with DS consulted their GP for RTIs twice as often as controls, were prescribed antibiotics twice as often, and were hospitalized six times as often. In children with DS, younger age, congenital heart disease and asthma were risk factors for RTI-related healthcare utilisation. Using multivariate analysis, this study found that for infants with DS, the prescription of antibiotics significantly reduced subsequent RTI-related hospitalisation - the number needed to treat is 11.9. Separate analysis, inverse probability of treatment weighting, found that the protective effect for infants with DS was not significant. When prescriptions were analysed by type of RTI, the prescription of antibiotics for upper RTIs did not reduce the risk of hospitalization for children with DS or controls. This was also the case for lower RTIs, although with a small sample. CONCLUSION: For children with DS over the age of one presenting with RTIs to primary care, antibiotic treatment does not prevent subsequent RTI-related hospitalisation. There is conflicting evidence from two separate analysis methods as to whether treating infants with DS with antibiotics prevents RTI-related hospitalisation, so further research is recommended. Further prescribing strategies (i.e. rescue antibiotics) should be explored to broaden the evidence base for this at-risk group.
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Rodrigues, Carina Teresa dos Santos. "Local translation of candidate mRNAs for Down's Syndrome." Master's thesis, Universidade de Aveiro, 2011. http://hdl.handle.net/10773/6211.

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Mestrado em Biologia Aplicada
O Síndrome de Down (DS) é a causa genética mais frequente de atraso mental. À semelhança de outros síndromes em que ocorrem deficiências em termos de memória e aprendizagem, as anomalias em especial ao nível das espinhas dendríticas estão também presentes. As espinhas dendríticas exibem rápidas mudanças em número, tamanho, forma e motilidade. Estas mudanças estão associadas à plasticidade sináptica e requerem a síntese de proteínas in situ, ou seja, translação local dendrítica. Down Syndrome Cell Adhesion Molecule (DSCAM) é um dos genes importantes nesta patologia neuronal (DS). Neste trabalho foram analisadas isoformas de DSCAM (isoformas 1, 3, 4 e 5) originadas por poliadenilação alternativa e que contem motivos de regulação denominados Cytoplasmic Polyadenylation Element (CPE). Assim, a translação local dendrítica de algumas destas isoformas é regulada pela proteína CPEB. Para visualizar a expressão destas isoformas foram efectuadas construções com a proteína Kaede. Inicialmente esta proteína produz fluorescência em verde e após fotoconversão em vermelho e estimulação sináptica, a nova proteína sintetizada é observada novamente em verde. Neste trabalho foram utilizadas culturas de neurónios de hipocampo, transfectadas com as construções efectuadas com Kaede-DSCAM-isoforms e analisadas através de microscopia confocal. Aparentemente, as quatro isoformas de DSCAM tem distintos locais de expressão em neurónios. Kaede-DSCAM-Isoform 1 é expressa em dendrites e axónios mas não no corpo celular neuronal, enquanto que Kaede-DSCAM-Isoform 3 parece ser expressa em todos os compartimentos neuronais. A expressão de Kaede-DSCAM-Isoform 4 confere uma morfologia aberrante ao corpo celular neuronal no qual se expressa de forma intensa. Finalmente, a expressão de Kaede-DSCAM-Isoform 5 é visualizada na forma de grânulos, em neurites semelhantes a axónios. Apesar da estimulação sináptica não ter sido executada neste trabalho, a utilização de DSCAM Kaede-reporters representa uma ferramenta valiosa para a visualização da translação local em culturas neuronais de hipocampo. A aplicação desta metodologia em neurónios de hipocampo de ratos trissomicos Ts1Cje, pode também levar à obtenção de conclusões de extrema importância no que diz respeito ao papel de DSCAM em DS.
Down’s syndrome (DS) is the most frequent genetic cause of mental retardation. Like in other syndromes involving memory and learning impairment, synaptic structural abnormalities are present, especially at the level of dendritic spines. Dendritic spines undergo rapid changes in number, size, shape and motility. These changes are linked to synaptic plasticity and require in situ protein synthesis, that is, dendritic local translation. Down Syndrome Cell Adhesion Molecule (DSCAM) is an important gene for DS neuronal pathology. DSCAM isoforms analysed in this work (isoforms 1, 3, 4 and 5) are originated by alternative polyadenylation and bear different combinations of regulatory Cytoplasmic Polyadenylation Element (CPE) motifs. Thus, dendritic local translation of some of these isoforms is regulated by CPEB protein. To visualize the local expression of these isoforms, constructions with Kaede protein were made. Kaede protein initially produces green fluorescence, and after irreversible green to red photoconversion and synaptic stimulation, newly synthetized proteins can be observed in green. In this work, hippocampal neuronal cultures were transfected with DSCAM Kaede-based reporters and analysed by confocal microscopy. We have found that apparently, the four DSCAM isoforms have distinct expression locations in neurons. Kaede-DSCAM-isoform 1 is expressed in dendrites and axons but not in cell body whereas Kaede-DSCAM-isoform 3 appears to be expressed in all neuronal compartments. Kaede-DSCAM-isoform 4 expression seems to confer an aberrant morphological appearance to the neuronal cell body, where it is highly expressed. Finally, expression of Kaede-DSCAM-isoform 5 is visualized in form of granules that delineate axon-like neurites. Despite synaptic stimulation of neurons was not performed in this work, DSCAM Kaede-based reporters represent a valuable tool for visualizing DSCAM local translation in hippocampal neuron cultures. The application of this methodology to trisomic Ts1Cje mouse hippocampal neurons can also lead in the near future to valuable conclusions in what concerns the role of DSCAM in DS.
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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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32

Jansson, Viktoria. "Barn med Downs syndrom i en förskoleklass : Pedagogers erfarenheter av inkludering av barn med Downs syndrom." Thesis, Karlstads universitet, Fakulteten för humaniora och samhällsvetenskap (from 2013), 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-30169.

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Lempke, Erika, and Wesslert Sara Lindberg. "The PhonicStick and Language play : Can the PhonicStick be used for the purpose of enabling language play and thereby promote phonological awareness in children with Down's syndrome?" Thesis, Uppsala University, Logopedi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128583.

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Research shows that phonological processing skill is the greatest single predictor for reading ability and it is agreed that phonological awareness specific tasks correlate positively with literacy acquisition in typically developing children. Children with Down’s syndrome are at risk for reading acquisition difficulties, primarily because of their reduced phonological awareness and a phonological awareness based approach to literacy has been shown to be beneficial for them. The aim of the present study was to investigate if the PhonicStick can be used to initiate interest in language play in children with Down’s syndrome, in order to stimulate their reduced phonological awareness. Six children with Down’s syndrome between five and 15 years of age, currently enrolled within the UK educational system, were recruited to participate in six sessions; two sessions of pre- and post testing of their phonological awareness, and four intervention sessions with the PhonicStick. During the intervention sessions, the ability to remember the six phonemes of the PhonicStick, to generate three-phoneme combinations, to produce given target real words or non-words and to perform in phoneme substitution tasks using the PhonicStick were investigated. The results of this study show that the PhonicStick, with advantage, can be used to introduce and enhance phonological awareness in children with Down’s syndrome and that an increase in phonological awareness is possible even during a short time of practise with the PhonicStick. Since children with Down’s syndrome benefit from a phonological awareness based approach to literacy, practising phonological awareness skills through language play with the PhonicStick might also have a future positive effect on their literacy acquisition.


Tidigare forskning visar att fonologisk medvetenhet är den främsta prediktorn för läs- och skrivkunnighet och att övning i fonologisk medvetenhet korrelerar positivt med läs- och skrivinlärning hos barn med typisk läs- och skrivutveckling. Barn med Downs syndrom riskerar att utveckla läs- och skrivsvårigheter framförallt till följd av nedsatt fonologisk medvetenhet och det har även visats att en metod för läs- och skrivinlärning baserad på fonologisk medvetenhet, kan gagna dem. Syftet med den här studien var att undersöka om the PhonicStick kan användas för att initiera intresse till språklek hos barn med Downs syndrom, med avsikt att stimulera deras fonologiska medvetenhet. Sex barn med Downs syndrom, i åldrarna fem till 15 år, inskrivna i det brittiska skolsystemet, medverkade i två sessioner bestående av pre- och post testning av fonologisk medvetenhet, och fyra interventionssessioner med the PhonicStick. Under interventionssessionerna undersöktes förmågan att komma ihåg placering av fonem hos the PhonicStick och med den generera kombinationer av fonem (dvs. ord), generera givna målord och substituera fonem i ord. Resultaten visar att the PhonicStick med fördel kan användas för att introducera och öka den fonologiska medvetenheten hos barn med Downs syndrom och att en ökning är möjlig även efter kort tids träning. Eftersom en metod för läs- och skrivinlärning baserat på fonologisk medvetenhet gagnar barn med Downs syndrom skulle övning av fonologisk medvetenhet genom språklekar med the PhonicStick även kunna ha en långsiktig positiv inverkan på deras läs- och skrivkunnighet.

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Fridh, Ann-Kristin, and Maria Pettersson. "Språkinlärning för elever med Downs syndrom." Thesis, Kristianstad University College, Department of Teacher Education, 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:hkr:diva-3253.

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Avsikten med vår uppsats är att lärare inom den allmänna förskolan ska få mer kunskap om hur man kan arbeta med språkinlärning för elever med Downs syndrom. Uppsatsens innehåll tar upp det vi läst i litteraturen och våra kopplingar till det vi sett under våra empiriska studier på en särskola. Vi har genom våra observationer funnit att de arbetssätt de använde på särskolan, kan man till viss del tillgodogöra sig genom att ta del av den forskning som finns i ämnet. I vår uppsats beskriver vi med konkreta exempel hur arbetet med språkinlärning går till på en särskola.

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Grimberg, Nickolina, and Jacobsson Susann Schatz. "Fysisk aktivitet vid Downs syndrom : En litteraturstudie om de hälsofrämjande aspekterna." Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-38669.

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Bakgrund: Idag lever personer med Downs syndrom längre än vad de tidigare har gjort. De tenderar att ha ett stillasittande liv vilket genererar olika komplikationer och följdsjukdomar. Fysisk aktivitet förebygger och behandlar folksjukdomar hos den generella populationen. För att främja hälsa ska sjuksköterskan utföra hälsofrämjande omvårdnad. Syfte: Syftet var att belysa betydelsen av hälsofrämjande fysisk aktivitet hos personer med Downs syndrom. Metod: Studien är utformad som en allmän litteraturstudie. Resultat: Datamaterialet analyserades och tre huvudteman framkom: Hälsofrämjande fysisk aktivitet ger positiva fysiska effekter, Hälsofrämjande fysisk aktivitet ger ökat välbefinnande samt Hälsofrämjande fysisk aktivitet främjar socialt samspel. Fysisk aktivitet förebygger många av de sjukdomar som personer med Downs syndrom riskerar att drabbas av. Fysisk aktivitet förbättrade hälsan hos personer med Downs syndrom. Resultaten som kunde läsas ur litteraturen var minskat kroppsfett, lägre blodtryck, ökad muskelstyrka samt bättre rörlighet och balans. Fysisk aktivitet genererade dessutom ett ökat socialt samspel vilket gav ökad glädje och ökat välbefinnande. Konklusion: Fysisk aktivitet var hälsofrämjande för personer med Downs syndrom. Vid regelbunden fysisk aktivitet skapades bättre förutsättningar för ett hälsosamt liv.
Background: People with Down ́s Syndrome live longer today than they have done previously. But they tend to have a sedentary life which causes different complications and secondary diseases. Physical activity prevents and treats national diseases in the general population. To promote health, nurses should give health- promoting care. Purpose: The aim was to illustrate the importance of health-promoting physical activity in persons with Down’s Syndrome. Method: The study is constructed as a general literature study. Results: The data was analysed and three main themes emerged: Health-promoting physical activity produces positive physical effects, Health-promoting physical activity produces improved well-being and Health- promoting physical activity encourages social interactions. Physical activity preventsmany of the diseases that people with Down’s Syndrome are at risk of contracting. Physical activity improved the health of persons with Down’s Syndrome. Conclusion: Physical activity promoted better health for persons with Down’sSyndrome. Regular physical activity improved the prerequisites needed for increased quality of life.
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Holmes, Nan Gwendolen. "The quality of life of mentally handicapped adults and their parents." Thesis, King's College London (University of London), 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.248153.

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37

Drower, Iris S. "The families' perspective : raising a child or young adult with Down syndrome." Thesis, Loughborough University, 1996. https://dspace.lboro.ac.uk/2134/27843.

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Down syndrome (referenced in USA) or Down's syndrome throughout the world, the most common genetic birth defect is a chromosomal anomaly. It affects all races and economic levels equally throughout the world. It has only been over the past twenty years that significant advances in human genetics have compounded a move toward the future needs and potential of children and young adults with Down syndrome. Henceforth, individuals with Down syndrome can now be seen more within the confines of their neighboring schools, homes and communities.
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Bergman, Nina. "Downs syndrom : Läkemedelsbehandling vid Alzheimers sjukdom och vid kognitiv funktionsnedsättning hos yngre och vuxna med Downs syndrom." Thesis, Umeå universitet, Kemiska institutionen, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-65889.

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39

Vadiveloo, Thenmalar. "Sequential testing strategies in prenatal screening for down's syndrome." Thesis, University of Glasgow, 2010. http://theses.gla.ac.uk/1889/.

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It is important therefore that maternal smoking is accurately recorded on screening request forms and in this study, the accuracy of self reported smoking status was assessed by analysis of cotinine in serum. Results showed that the percentage of self-reported smokers (24.1%) at booking was significantly lower than the cotinine-validated estimate of 30.1%. Also, smoking was associated with low birth weight, delivery prior to 39 weeks, increased AFP level (3.1%) and reduced hCG level (28.7%) in the second trimester. An increasing AFP level (but not hCG level) was associated with lower birth weight and delivery prior to 39 weeks in both smokers and non smokers but the effect was most marked in smokers. The difference in birth weight between the highest and the lowest AFP category for non-smokers was 448.3g and for smokers was 619.2g, suggesting that smoking exacerbates the effect of an elevated AFP on birth weight. Overall the difference in birth weight between the lowest AFP category in non smokers and the highest AFP category in smokers was 931.6g. Summary In summary, this study has shown that a cross-trimester contingent screening protocol with repeat measures has the potential to meet the UK NSC aspirational standard of 90% detection of Down’s syndrome pregnancies with a screen positive rate of less than 2%. Around 90% of women would complete screening in the first trimester without the need for a second stage sequential test. Correcting for factors such as maternal smoking habits, ethnicity and ART would further improve screening performance. Also it has been shown that where ultrasound resources are scarce, within-trimester and across-trimester protocols can reduce the need for NT measurement in all women and still deliver excellent screening performance although this falls short of the higher performance standard. The potential of these new screening protocols now need to be tested in prospective multicentre trials to confirm their performance in prospective practice.
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40

McCullough, Sara. "Higher order ocular aberrations in children with Down's syndrome." Thesis, University of Ulster, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.589518.

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Background Down's syndrome CDS) is the most common cause of learning disability in humans. Studies have described deficits in visual performance in DS that cannot be explained by ocular pathology, refractive errors, attentional or behavioural factors. Structural differences in the optics of the DS eye have been reported. It has also been previously reported that visual performance in DS is significantly improved when the optics of the eye are by-passed, suggesting an underlying optical defect. This thesis investigates whether optical quality is reduced in children with DS and how an optical deficit might influence their visual function. Methods Forty-four children with DS and 211 age-matched typically developing children participated in the main study. Optical quality was quantified by the measurement of higher order aberrations. Ocular structure and shape were also assessed to explore their influence on higher order aberrations and optical quality. Higher order aberrations were compared with visual performance measures of high and low contrast recognition acuity, grating resolution acuity and accommodative function. Higher order aberrations were also analysed for a large group of typically developing white Northern Irish children to explore the influences of age and refractive error on these measurements. Results & Conclusions The data demonstrated that: • Children with DS have greater levels of higher order aberrations and poorer optical quality than typically developing children. These differences were not attributable to greater levels of ametropia or premature aging in DS. • The data suggest multiple limitations of visual function in children with DS including optical and neural factors. • Neural adaptation and compensation of retinal image blur may be lacking or less efficient in DS resulting in poorer visual performance. • Negative spherical aberration found in the children with DS may indicate that differences in crystalline lens shape may restrict accommodative ability.
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41

Carroll, Frances. "Decision making associated with antenatal screening for Down's syndrome." Thesis, University of Bristol, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.547846.

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42

Dalgliesh, Gillian Louise. "Maternal serum markers, placental pathophysiology and Down's syndrome pregnancies." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.395076.

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43

Margallo-Lana, Maria Luisa. "Age-related neurocognitive changes in adults with Down's syndrome." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405337.

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44

Illingworth, Shelagh Margaret. "Some aspects of motor control in Down's Syndrome children." Thesis, University of Brighton, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236238.

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45

Thombs, Barry. "An examination of manual skills in Down's syndrome children." Thesis, University of Leeds, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236160.

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46

Krasner, Susan M. "Developmental aspects of communication in children with Down's syndrome." Thesis, University of St Andrews, 1985. http://hdl.handle.net/10023/15460.

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This thesis presents a series of investigations into communicative interaction between mothers and their preschool children with Down's Syndrome (DS), and mothers and their infants with DS. Reference to the literature in this area indicates that there is a need to determine not only how the DS child and/or her/his mother differ from their nonhandicapped peers but also ways in which DS children's language can be accelerated. Insofar as the preschool child with DS is concerned, a series of four studies are presented. The first of these investigates the effect of the label "DS" upon the mothers' perceptions of children thus labelled. Using videotapes of nonhandicapped, above average infants, it is demonstrated that some of the mothers' ratings of children are negatively affected if the child is described as having "DS". This is found to occur to a significant degree in both mothers of DS children and mothers of nonhandicapped children, although the effect is not identical in both groups across all the ratings measured. To investigate whether any such negative distortions, or "labelling effects" would affect the interactive behaviour of mothers of ES children, a sample of mothers of DS children was videotaped, with each mother in turn playing separately with 2 sisters. These girls were four years old, nonhandicapped, non-identical twins. For the purposes of this experiment, one of the twins (the more developmentally advanced and the physically larger of the 2) was always described to the mothers as having DS, her sister always being described as nonhandicapped (i.e. the child least like a DS child - if either could possibly be thought of in that way - was described as having-DS). It was found that all but one mother believed the experimental manipulation of the label; videotape analyses revealed furthermore that mothers treated the sisters significantly differently. Specifically the supposed DS child was ignored more often than her sister with mothers not responding to her attempts to initiate interaction and thus giving her less opportunity to control or direct the interactions. Mothers also used different types of interrogatives with her, avoiding the use of those questions which required more complex answers (wh- type questions) and using overall far more questions requiring only a simple yes/no response. Moreover, audio-recorded interviews with the subjects in this experiment revealed them to be explaining and describing the supposed DS child's behaviour in a very negative way, interpreting her behaviour and speech on the basis of her diagnostic label, giving her little or no credit for any achievements. These results are discussed with reference to the literature on mother and DS child interaction, expectancy effects, and with reference to social psychological studies of stereotyping.
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47

Rosén, Linda, and Sofie Wolff. "Information, anknytning och stöd till föräldrar med ett nyfött barn med diagnosen Downs syndrom : - litteraturstudie." Thesis, University of Gävle, Department of Caring Sciences and Sociology, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-438.

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The birth of a child marks a new era for the parents. It is the beginning of something that will never end, because they will always be the child´s parents. This study investigates what happens when an infant is born whit Downs syndrome (Ds), and thus does not resemble the child the parents had expected. The purpose of this literature study was to describe the information and the support that the parents of a newborn child with Ds think that they need. The literature search was made in the database of Medline (via Pub Med), Academic Search Elite and manual search. Twenty one scientific articles were used in the results. The analysis resulted in four describing questions about parents’ experience of having a child with Down syndrome, the support that they thought that they needed, the information they got and the timing of it and also parents’ connection to the child. The result showed that many parents experienced it hard to share their parenthood with health professionals. Sometimes the parents did not know how to act and observe around the child. Parents describe that support fails to materialise from family and friends. The most important time of connection to the child is the first five weeks after birth. The sooner that the parents got the information the better satisfied and calm the parents became, and when the diagnos is given it should, if possible, be with the mother and the father together when they are told about their child’s condition. The infant should be present when parents are informed that the child has Ds. The infant should also be referred to by name, so that his or her worth as a human being can be stressed. It is important for the parents to be offered some time to ask question about the diagnosis. Health care professionals should keep their personal opinions to themselves and the parent’s should be provided with up-to-date information about Ds. After the initial diagnosis or suspicion is shared with the parents, they should be offered a private hospital room and be introduced to a support group, and to be treated individually and not like everybody else.


När ett barn föds påbörjas en ny tideräkning för föräldrarna. Nu börjar något som inte kommer att ta slut, för de ska alltid vara barnets föräldrar. I denna studie undersöks vad som händer då barnet har fått diagnosen Downs syndrom (Ds) och inte liknar det barn föräldrarna väntat sig. Syftet med denna litteraturstudie är att beskriva den information och det stöd föräldrar till nyfödda barn med Downs syndrom anser sig behöva. Litteratursökningen har gjorts i databaserna Medline (via Pub Med), Academic Search Elite och manuell sökning. Tjugoen vetenskapliga artiklar valdes ut till resultatdelen. Analysen resulterade i fyra beskrivande frågor om föräldrars upplevelse till att få ett barn med Ds, vilket stöd de ansåg sig behöva, den information de fick och när de behövde den tidsmässigt samt föräldrars anknytning till barnet. Resultatet visade att många föräldrar upplevde det som svårt att dela sitt föräldraskap med en rad professionellt kunnig vårdpersonal. Ibland var det svårt för föräldrarna att veta hur de skulle betrakta barnet. Därför är det viktigt att förmedla orsakerna om Ds för föräldrarna så att dem inte klandrar sig själva och så att modern och fadern tillsammans kan ansvara för sitt barn. Föräldrarna beskriver att stödet och gratulationerna från släkt och vänner uteblir. Den viktigaste tiden för anknytningen till barnet är de första fem veckorna efter födseln. Desto tidigare informationen gavs till föräldrarna desto mera nöjda och lugna blev föräldrarna, och när beskedet skall ges ska, om möjligt båda föräldrarna närvara så snart diagnosen är ställd. Barnet bör om det går, vara med under tiden informationen och diagnosen ges. Det nyfödda barnet ska referera till dess namn, så att hans eller hennes värde som en människa kan tillkännages. Föräldrarna vill kunna ställa frågor om diagnosen, personalen ska inte delge sina egna åsikter och man ska kunna bli erbjuden färskt material om Ds. Dessutom bör de få tillgång till stödgrupper och bli erbjuden ett privat rum efter beskedet, allt för att få känna sig individuellt behandlad och inte som en i mängden.

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48

Kibsgaard, Larsen Frode. "Levealdersutvikling for personer med Downs syndrom i Norge fra 1969 og frem til 2050." Thesis, Nordic School of Public Health NHV, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:norden:org:diva-3439.

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Bakgrunn: Levealderen for personer med Downs syndrom har økt dramatisk på 1900 tallet i hele den vestlige verden. Imidlertid er det få undersøkelser om levealderfor denne populasjonen på 2000-tallet, og vi har ikke funnet noen norske undersøkelser. Hensikt:Undersøkelsen skal gi innsikt i levealdersutvikling i Norge fra 1969 og frem til 2010 og fremtidig forekomst av voksne og eldre med Downs syndrom frem til 2050. Metode:Det er en kvantitativ nasjonal demografisk registerundersøkelse for å beregne levealdersutviklingen for personer med Downs syndrom (n = 2 593). Registerdataene som er samlet inn er kontinuerlige data som er basert på løpende tellinger i den nasjonale fødsels-og dødelighetsstatistikken. Innsamlede data er personer registrert med diagnosekode Downs syndrom, årfødt, år død, alder ved død og kjønn. Hovedresultat:Gjennomsnittlig alder ved død for personer med Downs syndrom fra 1969 til og med 2009 økte fra 16,57 år til 53,40 år. Det var ingen statistisk signifikant forskjell på alder ved død mellom menn og kvinner. Gjennomsnittlig alder ved død for alle som døde etter fylte 40 år i studieperioden økte fra 53,95 år til 58,35 år. Forventet andel personer med Downs syndrom som vil bli 40 år og eldre vil øke fra 52 % for de som blefødt i 1967 til 94 % for de som ble født i 2009. Konklusjon:Levealderen for personer med Downs syndrom har økt betydelig fra 60-tallet og detteskyldes i hovedsak nedgang i spedbarnsdødeligheten. For de som overlever barneårene viser undersøkelsen imidlertid nesten ingen økning i rest levealder i løpet av undersøkelsesperioden. Frem til 2050 kan vi forvente en fordobling av antallet som vil være over 40 år
Background: Life expectancy for people with Down syndrome increased dramatically in the Western worldduringthe 1900s. However, fewsurveys have investigated life expectancy for this population since 2000,none of themNorwegian. Aim: This study aimedt o provide insight into life expectancy for Norwegians with Down syndrome between 1969 and2 010, and to project future rates for adults with Down syndrome until 2050. Method: This quantitative national demographic registry study estimated the development of life expectancy for people with Down syndrome (n = 2,593). To calculate age at death, we collected data from death certificates reported to Statistics Norway.Together with data from Medical Birth Registry,we simulated life tables.Collected data included persons with the diagnosis code for Down syndrome, birth year, year of death, age at death,and sex. Main results:Between 1969 and 2010, mean age at death of persons with Down syndrome increased from 16.57 years to 53.40 years, respectively. We observed no statistically significant difference in age at death between men and women. Average age at death for persons who died after 40 years of age increased from 53.95 years to 58.35 years duringthe study period. We estimated that the percentage of people with Down syndrome older than 40 years of age will increase, from 52% to 94% for those born in 1967 and 2009, respectively. Conclusion:Life expectancy for people with Down syndrome has increased significantly since the 1960s, mainly due to a relative decrease in newborn and infant mortality. Importantly, such individuals who survive childhood showed almost no increase in remaining life expectancy during the study period. By 2050,we expect the number of people with Down syndrome aged 40 or more years to double

ISBN 978-91-86739-73-0

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49

Kling, Nicole. "Människan bakom diagnosen : En studie om hur föräldrar till barn med Downs syndrom upplever det samhälleliga bemötandet." Thesis, Södertörns högskola, Sociologi, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:sh:diva-37392.

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The person behind the diagnosis is a qualitative interview study by Nicole Kling. The study examines how parents of children with Down syndrome experience the social treatment in a time when prenatal diagnosis is on the rise. Foucault’s biopolitical and Rose’s ethopolitical perspectives serve as theoretical frameworks for the analysis of how the parents experience and relate to the social treatment of them and their children. The study’s results show that society’s strong norms of normality play a crucial role for the interviewed parents’ experiences of being regarded as “deviating”. Ignorance, undemandingness and carelessness lead to discrimination of the children, and the lack of expectations of society on them is often seen by the parents as more disabling than the diagnosis itself. In such a society children born with Down syndrome can be seen as pathological elements in a population that strives for normality. Therefore, this study wishes to contribute to the body of research dedicated to explore the impact of biopolitical strategies on the plurality of society.
Människan bakom diagnosen är en kvalitativ intervjustudie gjord av Nicole Kling. Studien undersöker hur föräldrar till barn med Downs syndrom upplever det samhälleliga bemötandet i en tid där fosterdiagnostik är på framväxt. Foucaults biopolitiska och Roses etopolitiska perspektiv fungerar som teoretiska ramverk för analysen av hur föräldrarna upplever och förhåller sig till det samhälleliga bemötandet av dem och deras barn. Studiens resultat visar att samhällets starka normalitetsnormer spelar en avgörande roll för de intervjuade föräldrarnas upplevelser av att de och deras barn i och med diagnosen betraktas som ”avvikande”. Okunskap, kravlöshet och slarv leder till diskriminering av barnen, och samhällets bristande förväntningar på dem ses av föräldrarna ofta som mer funktionsnedsättande än diagnosen i sig. I ett sådant samhälle kan barn som trots allt föds med Downs syndrom ses som patologiska inslag i en befolkning som strävar efter normalitet. Studien hoppas därför kunna bidra till det forskningsfält som avser undersöka biopolitiska strategiers påverkan på mångfald.
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50

Svensson, Julia. "Skillnad på språkutveckling och språkutveckling : Att utveckla språket med hjälp av Karlstadmodellen och TAKK." Thesis, Karlstads universitet, Fakulteten för humaniora och samhällsvetenskap (from 2013), 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-33056.

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Syftet med denna studie är att undersöka hur Karlstadmodellen och TAKK (Tecken somAlternativ och Kompletterande Kommunikation) kan användas i förskoleverksamheten för attfrämja hela barngruppens språkutveckling.De metoder som har används för att undersöka och svara på frågeställningen är intervju ochenkätundersökning. Det gjordes tre olika intervjuer. En med en mamma till ett barn demDowns syndrom och som även är certifierad handledare i Karlstadmodellen. En med enbarnskötare som arbetat med ett barns språkutveckling med hjälp av Karlstadmodellen. Ochden tredje intervjun gjordes med tre sjuksköterskor på Barnavårdscentralen.Enkätundersökningen skickades ut till 16 förskolor och 14 svarade. Detta genererade i 56besvarade enkäter. På så vis blir det totala bortfallet 13 obesvarade enkäter.I resultatet framkom det att man i Karlstadmodellen och TAKK arbetar med ett nätverk kringdet barn som är i behov av stöd. Detta är troligen något som skulle vara svårt att applicera påen hel barngrupp. Däremot finns det modeller likande TAKK som är anpassade för barngrupp.Respondenterna från två av intervjuerna anser att man skulle kunna använda sig utav vissalekar från Karlstadmodellen till hela barngruppen.
The purpose with this study is to examine how The Karlstad model and Signs and AlternativeCommunication can be used in preschool to help the whole group of children with theirlanguage development.The methods that have been used to examine and answer all the questions is interviews andquestionnaire. There were three different interviews made. The first interview was with amother to a child with Down syndrome, who is also a certified mentor in the Karlstad model.The next person to be interviewed was a caretaker of children who works with children’slanguage development with help from the Karlstad model. And the third interviewed wasmade with three nurses at the children’s care center.The questionnaire was sent to 16 preschools and 14 of them replied. This generated in 56answered questionnaires.The result shows that those who use The Karlstad model and Signs and AlternativeCommunication work with a network around the child in need of support. This is probablysomething that would be hard to work with in a group of children in preschool. But there ismodels like Signs and Alternative Communication who is adjusted for child groups. Therespondents from two of the interviews consider that some games from the Karlstad modelcan be used for a whole group of children.
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