Relevant bibliographies by topics / Down’s syndrome

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Down’s syndrome'

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

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Journal articles on the topic "Down’s syndrome"

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Gajbhiye, Nilima, and Ritika Gaitonde. "EPIDEMIOLOGY OF DOWN’S SYNDROME & Β- THALASSEMIA IN INDIA." International Journal of Research -GRANTHAALAYAH 10, no. 2 (March 10, 2022): 145–51. http://dx.doi.org/10.29121/granthaalayah.v10.i2.2022.4515.

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Down’s syndrome and Beta (β) Thalassemia are commonly prevalent genetic diseases worldwide. Down’s syndrome is predominantly caused by an extra copy of chromosome 21 or trisomy 21. Maternal age above 35 years significantly increases the chances of a Down’s syndrome birth. In India, there are approximately 21,000 Down’s syndrome births every year. β-Thalassemia is a blood disorder caused by abnormal synthesis of the β chains of hemoglobin. India has over 35-45 million carriers of this disease. This is a survey-based study, which aims to understand the epidemiology of Down’s syndrome and Beta Thalassemia in the Indian population. This online survey was answered by 297 Indian or Indian origin adults. Both females and males were the respondents. Results of the study indicated that prevalence of Down’s syndrome is low in India while that of β-thalassemia is moderate. The correlation between the maternal and paternal ages at the time of birth of a Downs syndrome affected person was determined and the analyses showed that there was a positive correlation.
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Crawford, Doreen, and Annette Dearmun. "Down’s syndrome." Nursing Children and Young People 28, no. 9 (November 8, 2016): 17. http://dx.doi.org/10.7748/ncyp.28.9.17.s19.

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Marsh, Lynne. "Down’s syndrome." Learning Disability Practice 21, no. 3 (May 29, 2018): 16. http://dx.doi.org/10.7748/ldp.21.3.16.s17.

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MacLennan, Sarah. "Down’s syndrome." InnovAiT: Education and inspiration for general practice 13, no. 1 (November 26, 2019): 47–52. http://dx.doi.org/10.1177/1755738019886612.

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Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.
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AHMAD, SHAKIL, IMRAN SARWAR, and NISAR KHAN SAJID. "DOWN’S SYNDROME;." Professional Medical Journal 20, no. 06 (December 15, 2013): 898–903. http://dx.doi.org/10.29309/tpmj/2013.20.06.1830.

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Objective: To evaluate the various types of congenital heart defects and to determine their frequency in children withDown’s syndrome. Study Design: Descriptive study. Place and duration of study: Department of Pediatrics, Independent UniversityHospital Faisal Abad Pakistan, from January 2010 to December 2012. Methodology: 93 children between the ages of day 1 to 12 years,diagnosed clinically as Down’s syndrome based on its characteristic phenotypic appearance, were included in the study. A detailedhistory, physical examination and evaluation of cardiovascular status (including Chest x-ray, Electrocardiogram and Echocardiography)were performed in each Down’s syndrome case. Variables of interest included age, sex, maternal age at birth and type and frequency ofcongenital heart disease. Results: Congenital heart disease was present in 48 (51.62%) children out of 93 children with Down’ssyndrome. Congenital cardiac defects in order of predominant type and their frequency included Ventricular septal defect (29, 60.4%),Atrioventricular septal defect (14, 29.1%), Atrial septal defect (2, 4.1%), Patent ductus arteriosis (2, 4.1%) and Tetralogy of Fallots (1,2%). 68 (73.2%) Down’s syndrome children (n=93) presented during their first year of life with mean age of 7±4 months. Malepredominance was observed in both with and without congenital heart disease Down’s syndrome children (male: female 1.7:1 and 2.5:1respectively). Mean maternal age at birth was 27±2 years. Conclusions: Congenital heart disease (CHD) is frequently associated withDown’s syndrome (DS). Ventricular septal defects and atrioventricular septal defects are the most common forms of CHDs in DS childrenof our region. Their earlier presentation (in infancy) and significant contribution to the morbidity and mortality of DS children warrantsearly diagnosis of DS and mandatory screening of all DS children for associated CHDs.
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Ram, Bhargav, Dhaya Ann Varghese, Rishikesh Kumar, Anuradha Naganagoudar, Manjunath Vijapur, and Vasanth Kattimani. "Osteosarcoma presenting as ludwig’s angina in a down’s syndrome patient: A case report." Journal of Dental Specialities 9, no. 2 (December 15, 2021): 72–75. http://dx.doi.org/10.18231/j.jds.2021.018.

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Individuals with Down's Syndrome are predisposed to leukaemia, possibly other malignancies, various infection as well as increased mortality from other causes. osteosarcoma has been linked to genetic illnesses such as hereditary retinoblastoma, Li-Fraumeni syndrome, and Rothman-Thomson syndrome, it has not been linked to Down syndrome. Treatment plan for osteosarcoma includes surgical resection with systemic chemotherapy. Osteosarcoma is highly resistant to radiotherapy. Here we present a 21 year old female patient which is a unique case of Osteosarcoma in Down’s Syndrome patient presenting as Ludwig’s Angina. This current report highlights a clinical presentation of Osteosarcoma in Down’s Syndrome.
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Lakshminarayana, Prema. "Translocation Down’s syndrome." Indian Journal of Pediatrics 57, no. 2 (March 1990): 265–71. http://dx.doi.org/10.1007/bf02722100.

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Achmad, Harun, Dian Eka K, and Stefani Wijaya. "Prevalence of dental caries and anterior teeth malrelation to children with Down’s syndrome in Makassar Prevalensi karies gigi dan malrelasi gigi anterior pada anak penderita sindroma Down di Makassar." Journal of Dentomaxillofacial Science 11, no. 2 (June 30, 2012): 69. http://dx.doi.org/10.15562/jdmfs.v11i2.298.

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This study aimed to describe the prevalence of dental caries and malrelation of anterior teeth of Down’s syndromechildren in the city of Makassar. The samples were 46 Down's syndrome children who attended schools forhandicapped children or Sekolah Luar Biasa (SLB), namely SLB-C Pembina Tingkat Provinsi, SLB-C CatholicRajawali, SLB-D YPAC, and SLB Prima Karya Antang, selected by purposive sampling technique. Each sample wasexamined clinically by crossed-sectional approach. Condition of caries was recorded with the DMF-T index. Clinicalobservation of anterior teeth including anterior openbite, crossbite, edge to edge, labioversion, crowded was also done.The results show that the prevalence of dental caries among the Down’s syndrome children in Makassar is 82.6%, themean of DMF-T scores is 3.69. According to the interpretation of the WHO, this belongs to moderate category. Themost significant relation is labioversion as with 28.27%. Our results show that Down’s syndrome children in Makassarhave a high prevalence dental caries, with the most significant malrelation is labioversion.
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KISHNANI, PRIYA S., GAIL A. SPIRIDIGLIOZZI, JAMES H. HELLER, JENNIFER A. SULLIVAN, P. MURALI DORAISWAMY, and K. RANGA RAMA KRISHNAN. "Donepezil for Down’s Syndrome." American Journal of Psychiatry 158, no. 1 (January 2001): 143. http://dx.doi.org/10.1176/appi.ajp.158.1.143.

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Mafrica, Federica, Daniela Schifilliti, and Vincenzo Fodale. "Pain in Down’s Syndrome." TheScientificWorldJOURNAL 6 (January 26, 2006): 140–47. http://dx.doi.org/10.1100/tsw2006.27.

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

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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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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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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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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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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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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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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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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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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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Books on the topic "Down’s syndrome"

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J, Epstein Charles, ed. The morphogenesis of down syndrome: Proceedings of the National Down Syndrome Society Conference on Morphogenesis and Down Syndrome, held in New York, January 17 and 18, 1991. New York: Wiley-Liss, 1991.

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E, McCoy Ernest, and Epstein Charles J, eds. Oncology and immunology of Down Syndrome: Proceedings of the National Down Syndrome Society Symposium held in New York, December 4 and 5, 1986. New York: Liss, 1987.

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1928-, Coleman Mary, and Buckley Sue, eds. Medical care in Down syndrome: A preventive medicine approach. New York: Marcel Dekker, 1992.

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Association, Down's Syndrome, ed. Down's syndrome. London: Optima, 1992.

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Explaining down's syndrome. Mankato, Minn: Smart Apple Media, 2010.

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O, Lubchenco Lula, and Crocker Allen C, eds. Bus girl: Poems. Cambridge, Mass: Brookline Books, 1997.

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Cavanagh, Lucile. Why me?: A woman's search for healing. Placida, FL: Emergence Pub., 1990.

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Cunningham, Cliff. Down's syndrome: An introduction for parents. London: Souvenir Press, 1988.

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Stratford, Brian. Down's syndrome: Past, present and future. London: Penguin, 1989.

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Luke has Down's syndrome. London: Evans, 2009.

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Book chapters on the topic "Down’s syndrome"

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Gilbert, Patricia. "Down’s syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders, 89–93. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_23.

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Benezra-Obeiter, Rita. "Down’s Syndrome." In Developmental-Behavioral Disorders, 199–206. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3714-4_14.

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Stabel, Aaron, Kimberly Kroeger-Geoppinger, Jennifer McCullagh, Deborah Weiss, Jennifer McCullagh, Naomi Schneider, Diana B. Newman, et al. "Down’s Syndrome." In Encyclopedia of Autism Spectrum Disorders, 998. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_100479.

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Creutzig, U., J. Ritter, C. Niemeyer, B. Stollmann-Gibbels, M. Zimmermann, I. Reinisch, and J. Harbott. "Down’s Syndrome and Megakaryoblastic Leukemia." In Acute Leukemias VI, 754–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60377-8_114.

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Wald, N., and H. Cuckle. "Biochemical Screening for Down’s Syndrome." In The Embryo, 251–57. London: Springer London, 1991. http://dx.doi.org/10.1007/978-1-4471-1802-2_17.

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Sofair, David R. "The Patient With Down’s Syndrome." In Preanesthetic Assessment 3, 73–86. Boston, MA: Birkhäuser Boston, 1991. http://dx.doi.org/10.1007/978-1-4684-6790-1_6.

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Ceballos-Picot, Irène. "Oxidative Stress in Down’s Syndrome." In Neuroscience Intelligence Unit, 141–58. Berlin, Heidelberg: Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-22516-5_6.

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Constantini, S., S. Pomeranz, B. Hoffman, O. Martin, and Z. H. Rappaport. "Coexistence of Dandy-Walker Syndrome and Down’s Syndrome." In Annual Review of Hydrocephalus, 96. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-662-11158-1_58.

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Sawa, A. "Neuronal cell death in Down’s syndrome." In The Molecular Biology of Down Syndrome, 87–97. Vienna: Springer Vienna, 1999. http://dx.doi.org/10.1007/978-3-7091-6380-1_6.

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Vieregge, P., G. Ziemens, A. Piosinski, M. Freudenberg, and D. Kömpf. "Parkinsonian features in advanced Down’s syndrome." In Age-associated Neurological Diseases, 119–24. Vienna: Springer Vienna, 1991. http://dx.doi.org/10.1007/978-3-7091-9135-4_19.

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Conference papers on the topic "Down’s syndrome"

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Lakić, Marin, and Iva Lakić. "Down’s syndrome – prejudices about mental ability." In NEURI 2015, 5th Student Congress of Neuroscience. Gyrus JournalStudent Society for Neuroscience, School of Medicine, University of Zagreb, 2015. http://dx.doi.org/10.17486/gyr.3.2228.

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Szmalec, Jacek, and Ewa Binkuńska. "Improvement of a Child with Down’s Syndrome – Case Study." In The 4th International Virtual Conference on Advanced Scientific Results. Publishing Society, 2016. http://dx.doi.org/10.18638/scieconf.2016.4.1.371.

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Bhatt, R., and S. Ramdas. "G55(P) Antiphospholipid syndrome should be considered as a possible causative factor in stroke in children with down’s syndrome." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 25 September 2020–13 November 2020. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2020. http://dx.doi.org/10.1136/archdischild-2020-rcpch.41.

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Baicher, VJS, E. Marder, and L. Walton. "G503(P) Acute medical presentations in children with down’s syndrome: do they need a different approach." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference and exhibition, 13–15 May 2019, ICC, Birmingham, Paediatrics: pathways to a brighter future. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-rcpch.487.

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Church, James, Beth Balint, Christo Benite, and Hemant Bhavsar. "1268 A retrospective study of coeliac disease screening among children and young people with down’s syndrome." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.521.

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Ramoglu, Meltem, Hikmet Ucgun, Ertugrul Safran, and H. Nilgun Gurses. "Investigation of associations between functional performance, physical activity level and sleep quality in adults with Down’s Syndrome." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa1479.

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Williams, G., K. Gillespie, S. Leary, and J. Hamilton-Shield. "G268 Establishing Breast Feeding in Infants with Down’s Syndrome; Parental Experiences from a UK Wide Birth Cohort." In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.262.

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Vieira, Igor, Antao Moura, Uwe Terton, Mark Bilby, and Marcelo Barros. "Designing Gamified E-Learning Applications for Children with Down’s Syndrome - The Case of Teaching Literacy and Language Skills." In 10th International Conference on Computer Supported Education. SCITEPRESS - Science and Technology Publications, 2018. http://dx.doi.org/10.5220/0006684701020113.

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Kramer, Dean, Alexandra Covaci, and Juan Carlos Augusto. "Developing Navigational Services for People with Down's Syndrome." In 2015 International Conference on Intelligent Environments (IE). IEEE, 2015. http://dx.doi.org/10.1109/ie.2015.26.

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Ramanathan, Subhiksha, M. Sangeetha, Saachi Talwai, and S. Natarajan. "Probabilistic Determination Of Down's Syndrome Using Machine Learning Techniques." In 2018 International Conference on Advances in Computing, Communications and Informatics (ICACCI). IEEE, 2018. http://dx.doi.org/10.1109/icacci.2018.8554392.

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Reports on the topic "Down’s syndrome"

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Martín -Sabarís, RM, and G. Brossy-Scaringi. Augmented Reality for Learning in People with Down Syndrome: an exploratory study. Revista Latina de Comunicación Social, June 2017. http://dx.doi.org/10.4185/rlcs-2017-1189en.

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Chung, Jeanhee, Karen Donelan, Eric Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, et al. Does a Web-Based Platform for Caregivers Help People with Down Syndrome Get Recommended Health Services? Patient-Centered Outcomes Research Institute (PCORI), October 2020. http://dx.doi.org/10.25302/10.2020.ad.150731567.

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van der Haar, Sandra, and Gertrude G. Zeinstra. Dietary supplements for children with Down syndrome: exploration of current use and scientific evidence : Fieldwork and literature study. Wageningen: Wageningen Food & Biobased Research, 2021. http://dx.doi.org/10.18174/554328.

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Developmental language disorder. ACAMH, May 2018. http://dx.doi.org/10.13056/acamh.5650.

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Developmental language disorder (DLD) is diagnosed when a child’s language skills are persistently below the level expected for the child’s age. In DLD, language deficits occur in the absence of a known biomedical condition, such as autism spectrum disorder or Down syndrome, and interfere with the child’s ability to communicate effectively with other people.
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