Bibliografie tematiche / Down syndrome

Letteratura scientifica selezionata sul tema "Down syndrome"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 7 luglio 2024

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Articoli di riviste sul tema "Down syndrome"

Duchoslavová, Lenka. "Down syndrome". Kontakt 9, n. 2 (21 dicembre 2007): 416–21. http://dx.doi.org/10.32725/kont.2007.063.

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Dr. Apte M. V, Dr Apte M. V., e Dr Suresh D. Gangane. "Clinical Profile of Down Syndrome Cases". International Journal of Scientific Research 2, n. 2 (1 giugno 2012): 273–74. http://dx.doi.org/10.15373/22778179/feb2013/91.

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Hobson-Rohrer, W. L., e L. Samson-Fang. "Down Syndrome". Pediatrics in Review 34, n. 12 (1 dicembre 2013): 573–74. http://dx.doi.org/10.1542/pir.34-12-573.

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Hobson-Rohrer, Wendy L., e Lisa Samson-Fang. "Down Syndrome". Pediatrics In Review 34, n. 12 (1 dicembre 2013): 573–74. http://dx.doi.org/10.1542/pir.34.12.573.

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DAVIES, M. K., e A. HOLLMAN. "Down syndrome". Heart 86, n. 2 (1 agosto 2001): 130. http://dx.doi.org/10.1136/hrt.86.2.130.

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Bull, Marilyn J. "Down Syndrome". New England Journal of Medicine 382, n. 24 (11 giugno 2020): 2344–52. http://dx.doi.org/10.1056/nejmra1706537.

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&NA;. "DOWN SYNDROME". Advances in Neonatal Care 9, n. 1 (febbraio 2009): 31–33. http://dx.doi.org/10.1097/01.anc.0000346093.50981.89.

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Prasher, Vee, e Cliff Cunningham. "Down syndrome". Current Opinion in Psychiatry 14, n. 5 (settembre 2001): 431–36. http://dx.doi.org/10.1097/00001504-200109000-00002.

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SMITH, JEAN C., WILLIAM L. COLEMAN, ADRIAN D. SANDLER e CATHERINE L. GRUS. "DOWN SYNDROME". Journal of Developmental & Behavioral Pediatrics 18, n. 2 (aprile 1997): 134. http://dx.doi.org/10.1097/00004703-199704000-00021.

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Crain, Lucy S. "Down Syndrome". Journal of Developmental & Behavioral Pediatrics 20, n. 4 (agosto 1999): 297. http://dx.doi.org/10.1097/00004703-199908000-00016.

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Tesi sul tema "Down syndrome"

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

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Book Summary: Nurses play a key role in high-quality health care for people with intellectual and developmental disabilities (IDD)--and now this up-to-date textbook fully prepares them to provide patients with the best possible services across the lifespan. The most comprehensive text available for nurses who specialize in IDD, this essential book clarifies evidence-based practices and gives readers an integrated, interdisciplinary approach to care that meets each person's individual needs. Cecily Betz and Wendy Nehring--authors of the respected text Promoting Health Care Transitions for Adolescents with Special Health Care Needs and Disabilities--gather the latest research and wisdom of 18 diverse authorities in the medical field. Together, they give pre- and in-service nurses the foundation of knowledge they need to help ensure equal access to health care for people with IDD choose from today's models and philosophies of carepromote their patients' psychosocial developmentprovide effective physical careconduct health assessments and develop individualized plans of caremaintain successful interdisciplinary collaboration with other professionals address the issues associated with specific disabilities, including autism, Down syndrome, cerebral palsy, fragile X, sensory impairment, and medical and behavioral health problems support developmental transitions across the lifespan expand their knowledge of genetics and apply it to nursing practice skillfully manage ethical and legal issuesunderstand the service agencies used by individuals with IDD Enhanced with clinical practice guidelines to support effective work with individuals who have IDD, this textbook lights every nurse's path to person-centered, evidence-based care that improves their patients' lives.

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

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

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

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Persons with Down syndrome and MA matched typically developing children were tested on two measures each of hot and cool executive function (EF). Tasks were selected to be developmentally appropriate for mental ages between 3 and 6 years. Participants with Down syndrome performed at the same level as verbal mental age (VMA, M = 47.53 months) matched typically developing children on the Children's Gambling Task (Kerr & Zelazo, 2001), a delay of gratification task (Thompson, Barresi, & Moore, 1997) the Dimensional Change Card Sort (DCCS; Frye, Zelazo, & Palfai, 1995), and the Self-Ordered Pointing task (Petrides & Milner, 1982), but showed a disadvantage on the DCCS, a cool EF task, when matched on performance mental age (PMA, M = 58.34 months). These results reflect the complex cognitive profiles of persons with Down syndrome and highlight the need for more precise matching procedures.

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

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Background: Down syndrome (DS) is the most common cause of intellectual disability in children. The child has an extra chromosome in the 21st chromosome pair. It is important that the nurse is comfortable within their own field of knowledge in order to give every individual the specific care they need. Becoming a parent is a major event in people's lives and it can be fraught with joy and anxietya bout the future. Aim: The aim of this literature review was to describe parents' experiences of support from the health care professionals when the child is born with DS and the experiences of support during the child's first year. The aim was further more to describe the included articles data collections methods. Method: A literaturere view with descriptive design. The literature contains ten scientific articles with both qualitative and quantitative approach. The articles were collected through PubMed and Cinahl. The authors reviewed articles and looked for similarities and differences that could form the basis of the result. Main result: The literature review shows that parents of children with DS are concerned about the future when support and information from nurses and health care professionals is inadequate. The parents feel unprepared for the parent hood. The results of this review were based on both qualitative and quantitative articles. Interviews, surveys and questionnaires were used as data collection methods in these articles. Conclusion: This literature demonstrates the importance of good communication between parents and health care professionals. The lack of informative and emotional support creating anxiety and fear among parents. Having a child with DS is something that can change the lives of the entire family. The nurse has an important role in providing adequate support to the whole family.
Bakgrund: Downs syndrom (DS) är den vanligaste orsaken till en intellektuell funktionsnedsättning hos barn. Barnet har en extra kromosom på det 21:a kromosomparet. Det är viktigt att sjuksköterskan är trygg inom det egna kunskapsområdet för att kunna ge varje individ den specifika vård den behöver. Att bli förälder är en stor händelse i människors liv och det kan vara förenat med både glädje och oro inför framtiden. Syfte: Syftet med denna litteraturstudie var att beskriva föräldrars erfarenheter av stöd från sjukvårdspersonal när barnet föds med DS samt erfarenheter av stöd under barnets första levnadsår. Syfte var även att studera de valda artiklarnas datainsamlingsmetoder. Metod: En litteraturstudie med beskrivande design. Litteraturstudien innehåller tio vetenskapliga artiklar med kvalitativ och kvantitativ ansats. Artiklarna samlades in via PubMed och Cinahl. Författarna granskade artiklarna samt letade efter likheter och skillnader som kunde ligga till grund för resultatet. Huvudresultat: Litteraturstudien visar att föräldrar till barn med DS känner oro inför framtiden när stödet och informationen från sjuksköterskan och sjukvårdspersonalen är bristfällig. Föräldrarna känner sig oförberedda på föräldraskapet. Resultatet i denna litteraturstudie baserades på både kvalitativa och kvantitativa artiklar. Datainsamlingsmetoder som användes i dessa artiklar var intervjuer, enkäter samt frågeformulär. Slutsats: Föreliggande litteraturstudie visar på betydelsen av god kommunikation mellan förälder och sjukvårdspersonal. Bristen på upplysande och känslomässigt stöd kan skapa oro och rädsla hos föräldrar. Att få ett barn med DS är något som kan förändra livssituationen för hela familjen. Sjuksköterskan har därför en viktig roll i att ge ett fullgott stöd till hela familjen.

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

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

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Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction. Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. We developed growth charts specific for Swedish children with DS, in order to facilitate early diagnosis of concomitant diseases that influence growth. The growth charts are available for paediatricians and child health care professionals in Sweden. The mechanism underlying the impaired growth in DS is unknown. Height is influenced by parental factors, energy intake, hormone balance and general health. In DS, genetic factors deriving from the extra chromosome 21 further affect growth. Children with DS seem to have reasonable levels of growth hormone (GH), even though GH treatment for limited periods of time improves growth velocity. Within the present project, the subjects of a previous study on early GH therapy in DS were followed up regarding late effects. We found a larger adult head circumference and better psychomotor abilities in the previously treated subjects despite a lack of effect on final height. In adult life, GH has effects on psychological well-being and metabolism. The clinical features in adults with DS might indicate impaired GH secretion. Ten young adults with DS were studied and compared with ten healthy controls. The GH secretion in the DS subjects did not differ from that in the controls. The fat body mass percentage was increased in DS, in line with the high prevalence of overweight/obesity. The finding of an increased HOMA index as well as a high relative rate of hepatic glucose production in DS indicates reduced insulin sensitivity both peripherally and in the liver. Thyroid dysfunction is common in DS. There is a 30-fold increase in congenital hypothyroidism, and acquired hypothyroidism has been reported to be present in up to 50% of adults with DS. We collected neonatal screening results and hospital records for the first ten years of life of 68 children with DS. The mean TSH concentration was increased neonatally, indicating marginal hypothyroidism early in life in DS. However, the neonatal TSH level did not predict development of manifest hypothyroidism later in life.
Downs syndrom (DS) är en vanlig kromosomavvikelse. Kortvuxenhet och psykomotorisk utvecklingsstörning är kardinaltecken vid DS. Endokrina avvikelser är också frekvent förekommande. Tillväxt är en bra indikator på barns hälsa. Nyfödda barn med DS är kortare än andra nyfödda, och skillnaden i längd ökar under barndomen. Sjukdomar som påverkar tillväxten upptäcks ofta via ett förändrat tillväxtmönster. Detta kan lätt förbises vid DS eftersom tillväxten redan är avvikande. Användning av syndromspecifika tillväxtkurvor ökar möjligheterna till diagnostik av sjukdomar som stör längdtillväxten. Vi har framställt tillväxtkurvor för barn med DS, vilka finns tillgängliga inom svensk barnsjukvård och barnhälsovård. Längdtillväxt styrs av nedärvda faktorer från föräldrarna liksom av nutrition, hälsa och hormoner. Genetiska faktorer, kopplade till kromosom 21, kan påverka tillväxten vid DS, men tillväxtstörningens exakta bakgrund är inte känd. I vuxen ålder är personer med DS ungefär 20 cm kortare än förväntat med hänsyn till föräldralängder. Trots att barn med DS har relativt normala nivåer av tillväxthormon (STH eller GH) förbättras deras tillväxt vid STH-behandling. Inom avhandlingsarbetet följde vi upp ungdomar med DS, vilka behandlats med STH i tidig barndom. Vi kunde påvisa större huvudomfång samt förbättrad kognitiv och motorisk förmåga, trots avsaknad av effekt på slutlängden. Tillväxthormon har i vuxen ålder effekt både på ämnesomsättning och psykologiskt välbefinnande. Vuxna individer med DS uppvisar flera tecken förenliga med STH-brist. Vi jämförde tio unga vuxna med DS med tio friska kontrollindivider avseende förmågan att insöndra STH. STH-insöndringen hos individerna med DS skiljde sig inte från den hos kontrollerna. Vid samtidig undersökning av kroppssammansättning påvisades en ökad andel kroppsfett hos individerna med DS, resultat i linje med den frekventa förekomsten av övervikt/fetma. Individerna med DS hade en förhöjd glukosproduktion, som tillsammans med ett ökat HOMA-index talar för förekomst av minskad insulinkänslighet både på levernivå och perifert. Brist på sköldkörtelhormon är mycket vanligt vid DS och upp till hälften av vuxna med DS kan ha hypotyreos. Vi studerade 68 barn med DS avseende nivåer av tyroideastimulerande hormon (TSH) vid PKU-provtagning. Vi följde också barnens journalhandlingar från de tio första levnadsåren i syfte att undersöka om den neonatala TSH-nivån kan prediktera framtida underfunktion av sköldkörteln. Resultaten visade att barn med DS har en förhöjd nivå av TSH neonatalt, vilket indikerar en brist på sköldkörtelhormon redan i nyföddhetsperioden, men nivån förutsäger inte utveckling av manifest hypotyreos senare under barndomen.

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

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Abstract The aim of the present study was to evaluate the efficacy of the first trimester screening for Down syndrome (DS) in an unselected low-risk Finnish population. The study involved 4,617 women who attended screening between the 8th and 14th weeks of pregnancy in 1998-2000. They gave a blood sample for the measurement of pregnancy associated plasma protein A (PAPP-A) and free beta human chorionic gonadotrophin (β-hCG). Of these women, 3,178 also had an ultrasound examination for the measurement of fetal nuchal translucency (NT). The risk figure for every screened woman was calculated using a computerized risk figure program. The risk 1 in 250 was used as a cut-off. The subgroup of screen positives comprised 5.8% of the study group. There were 16 DS cases. The combined method (maternal age, NT and the biochemical markers) detected 77% of the affected pregnancies. NT combined with maternal age gave a detection rate of 69%. Serum markers without NT combined with maternal age found 75% of the Down's. In 49 consecutive singleton in-vitro-fertilization pregnancies, the β-hCG value was more often elevated compared to spontaneous pregnancies, increasing the false positive rate. In 67 twin pregnancies, the serum marker levels were approximately double those in singletons. Smoking reduced PAPP-A by 20% making the smokers more likely to get a positive screening result. To determine the impact of the screening on the live born incidence of DS, two historical populations were compared. The first group was screened by second trimester serum samples (β-hCG and AFP) and the second group by first trimester ultrasound examination. When detection rates were at the same level, the second trimester screening reduced the number of live born Down's children more effectively. In conclusion, the first trimester combined method (maternal age, NT, β-hCG and PAPP-A) for Down syndrome screening is efficient in an unselected low risk population. The biochemical screening is not recommended in IVF-pregnancies.

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

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Abstract The purpose of this study was to evaluate extended first trimester screening for severe chromosomal disorders and adverse pregnancy outcomes in singleton pregnancies among the general population in Finland. Maternal serum biochemical markers, pregnancy associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (fβ-hCG), and fetal nuchal translucency (NT) thickness were measured during the gestational weeks 8+0–13+6. A computerized risk figure program was used to calculate an individual risk figure for chromosomal disorders. It was investigated whether the screening parameter, PAPP-A, is associated with adverse pregnancy outcomes. The prevalence of Down syndrome (DS) cases in Finland during the years 2002–2006 was 1:364 (N=795). The proportion of women aged 35 years or older increased from 5–10% in the years 1980–1990 to 19.1% during the study period. Most DS cases (61.1%) presented in that age group. The first trimester combined screening for Down syndrome yielded a detection rate (DR) of 81.9% for a 4.3% false positive rate (FPR). The performance was evaluated among 76949 voluntary women during the study period of 01.05.2002–31.12.2008. There were 188 cases of DS. The screening worked better among the older women. The number of invasive procedures needed to detect one case of DS was higher among the younger women. Adding specific algorithms for screening of other chromosomal abnormalities yielded DR of 74.0% for trisomy 18 (T18) and 54.5% for trisomy 13 (T13) with an additional increase of 0.3% FPR. For chromosomal abnormalities other than T18 and T13, the specific algorithms did not improve the screening performance. Low first trimester maternal serum levels of PAPP-A (≤0.30 MoM) were significantly associated with small for gestational age (SGA) newborns and stillbirths (SBs). The combined screening method for DS works well in practice and has been standardized in Finland. In screening for trisomies 18 and 13 a specific algorithm is reasonable. Low first trimester levels of PAPP-A could be used as an independent marker for pregnancies at high risk for SGA babies and SBs
Tiivistelmä Tutkimuksen tarkoituksena oli arvioida laajennetun ensimmäisen raskauskolmanneksen kromosomipoikkeavuuksien seulonnan toimivuutta yksisikiöisissä raskauksissa suomalaisessa normaaliväestössä. Äidin seerumin biokemialliset merkkiaineet, raskauteen liittyvä valkuaisaine A (PAPP-A) ja raskaushormoni (fβ-hCG) sekä sikiön niskaturvotus mitattiin raskausviikoilla 8+0–13+6. Yksilöllinen riskiluku kromosomipoikkeavuuksille laskettiin käyttäen tietokoneen riskinlaskentaohjelmaa. Seulonnan merkkiaineen, PAPP-A:n, matalien pitoisuuksien yhteyttä epäsuotuisiin raskauden lopputuloksiin tutkittiin. Downin oireyhtymän esiintyvyys Suomessa oli 1:364 (N=795) vuosina 2002–2006. 35-vuotiaiden tai sitä vanhempien naisten osuus oli tutkimusaikana 19.1 %, mikä on huomattavasti suurempi kuin vuosien 1980–1990: 5–10 %. Näiden naisten sikiöiden joukosta löytyi suurin osa Down oireyhtymistä (61.1 %). Ensimmäisen raskauskolmanneksen yhdistelmäseulonnan toimivuutta tutkittiin aikana 01.05.2002–31.12.2008. Tutkimukseen osallistui 76 949 vapaaehtoista naista. Joukossa oli 188 Downin oireyhtymätapausta. Seulonnan herkkyys Downin oireyhtymälle oli 81.9 % ja tarkkuus 4.3 %. Seulonta toimi parhaiten vanhempien naisten joukossa. Niiden kajoavien toimenpiteiden määrä, jotka tarvittiin yhden Down-sikiön löytämiseksi, oli suurempi nuorten naisten joukossa. Tutkimuksessa Downin oireyhtymän algoritmiin lisättiin spesifiset algoritmit trisomioille 18 ja 13, jolloin saavutettiin 74.0 %:n herkkyys trisomialle 18 ja 54.5 %:n herkkyys trisomialle 13. Väärien positiivisten seulontatulosten määrä kasvoi 0.3 %:n verran. Seulonnan toimivuus muiden kromosomipoikkeavuuksien joukossa ei parantunut spesifisten algoritmien avulla. Lisäksi matalan PAPP-A-pitoisuuden yhteys pienipainoisuuten ja kuolleena syntyneisyyteen oli tilastollisesti merkittävä. Tutkimus osoitti, että esimmäisen raskauskolmanneksen yhdistelmäseulonta toimii hyvin käytännössä. Trisomioiden 18 ja 13 seulonnassa spesifisten algoritmien käyttö on järkevää. Matalaa ensimmäisen raskauskolmanneksen PAPP-A-arvoa voitaisiin käyttää itsenäisenä riskimerkkiaineena raskauksille, joissa pienipainoisuuden ja kuolleena syntymisen riski on kohonnut

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

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

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Representations of people with a developmental disability are virtually not covered in the media. Although there is little coverage of people with developmental disabilities in the media, there are a few entertainment television characters who have Down syndrome and are represented in the media. This study will take a look at the history of how people with disabilities were represented in the media and examine how two television characters with Down syndrome were portrayed on the shows by examining their self-esteem. This study seeks to focus on portrayal of people with Down Syndrome because the physical features that people with Down Syndrome possess are easy to identify. Specifically, the study examines the portrayal of self-esteem in two television characters, Corky Thatcher (Life Goes On) and Becky Faye Jackson (Glee). The researcher will also examine how the portrayal of self-esteem in the two characters is similar or different in people who have Down Syndrome. In the study the researcher found that the representation of the character Corky was different from the character Becky. But both characters tackled issues that affected the Down Syndrome community and it affected their self-esteem. Corky and Becky were different from the interviewees in the way they realized their competencies. Although the interviewees who have Down Syndrome and the television characters used self-evaluation differently to evaluate one's own self-esteem, they all seem to exhibit a positive level of self-esteem.

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Libri sul tema "Down syndrome"

Down syndrome. New York: Chelsea House, 2008.

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Down syndrome. New York: Cavendish Square Publishing, 2016.

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Down syndrome. New York: Rosen Pub. Group, 2007.

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Cohen, William I., Lynn Nadel e Myra E. Madnick, a cura di. Down Syndrome. New York, USA: John Wiley & Sons, Inc., 2002. http://dx.doi.org/10.1002/0471227579.

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Burns, Yvonne, e Pat Gunn, a cura di. Down Syndrome. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4899-7240-8.

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Down syndrome. Mankato, MN: Amicus Publishing, 2015.

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Parks, Peggy J. Down syndrome. San Diego: ReferencePoint Press, 2008.

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National Institute of Health (U.S.), a cura di. Down Syndrome. Bethesda, Md: National Institutes of Health, 1990.

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Tocci, Salvatore. Down syndrome. New York: Franklin Watts, 2000.

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Unruh, John F. Down syndrome: Successful parenting of children with Down syndrome. Eugene, Or: Fern Ridge Press, 1994.

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Capitoli di libri sul tema "Down syndrome"

Nerney, Thomas. "Understanding Self-Determination". In Down Syndrome, 1–15. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch1.

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O'Neill, Thomas J. "Being a Dad-As I Know It". In Down Syndrome, 155–61. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch10.

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Levine, Susan P. "The Sibling Relationship: Attending to the Needs of the Other Children in the Family". In Down Syndrome, 163–72. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch11.

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Weingarten, David A. "The Special Needs Program: Estate Planning for Families with Children with Disabilities". In Down Syndrome, 173–83. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch12.

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Leshin, Len. "Pediatric Health Update on Down Syndrome". In Down Syndrome, 185–201. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch13.

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Winders, Patricia C. "The Goal and Opportunity of Physical Therapy for Children with Down Syndrome". In Down Syndrome, 203–14. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch14.

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Patterson, Bonnie. "Behavior Concerns in Persons with Down Syndrome". In Down Syndrome, 215–19. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch15.

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McGuire, Dennis E., e Brian A. Chicoine. "Life Issues of Adolescents and Adults with Down Syndrome". In Down Syndrome, 221–36. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch16.

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Cohen, William I. "Health Care Guidelines for Individuals with Down Syndrome-1999 Revision". In Down Syndrome, 237–45. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch17.

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Patterson, David. "Sequencing of Chromosome 21/The Human Genome Project". In Down Syndrome, 247–58. New York, USA: John Wiley & Sons, Inc., 2003. http://dx.doi.org/10.1002/0471227579.ch18.

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Atti di convegni sul tema "Down syndrome"

Chramov, Dmitriy Sergeevich, Aleksey Borisovich Bakyrinskich, Aleksandr Michaylovich Yakyshev e Angelika Ragipovna Ten. "DOWN SYNDROME IN THE FETUS". In Themed collection of papers from Foreign International Scientific Conference «Modern research on the way to a new scientific revolution». Part 2. by HNRI «National development» in cooperation with AFP (Puerto Cabezas, Nicaragua). November 2023. – Varadero (Cuba). Crossref, 2024. http://dx.doi.org/10.37539/231128.2023.61.58.029.

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Abstract (sommario):

Down syndrome (DS) is a common genetic anomaly in the fetus, in which a trisomy of chromosome 21 is observed in the karyotype. In women diagnosed with Down's syndrome in the fetus, pregnancy was complicated by the development of gestational diabetes mellitus, premature or early rupture of amniotic fluid. Provides information about the problem of DS, its history. The main etiological factors predisposing to the development of Down syndrome are highlighted.

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Aslanoglou, Kalliopi, Theodora Papazoglou e Charalampos Karagiannidis. "Educational Robotics and Down syndrome". In DSAI 2018: 8th International Conference on Software Development and Technologies for Enhancing Accessibility and Fighting Info-exclusion. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3218585.3218600.

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Murat, Zunairah Hj, R. S. S. A. Kadir, Nadiah Kamaruzaman e Mastura Rosdi. "Down syndrome and non-down syndrome: Electromagnetic radiation for the physical and psychological conditions". In 2015 International Conference on Information & Communication Technology and Systems (ICTS). IEEE, 2015. http://dx.doi.org/10.1109/icts.2015.7379885.

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Asri, Rifdatul Chairiyah, e Tri Widianti Natalia. "Kriteria Ruang Ramah Anak Penyandang Down Syndrome". In Temu Ilmiah IPLBI 2021. Ikatan Peneliti Lingkungan Binaan Indonesia, 2021. http://dx.doi.org/10.32315/ti.9.d135.

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Down syndrome ditemukan awalnya ditahun 1932 oleh dokter di Inggris yang bernama Dr. John Langdon. Down syndrome terjadi karena kegagalan sepasang kromoson yang saling memisahkan diri saat terjadi pembelahan. Peningkatan anak down syndrome di setiap tahunnya terjadi peningkatan, terutama di Indonesia. Beberapa orang tua yang sudah malu memiliki anak down syndrome hanya mengurung anaknya di rumah dan tidak membiarkan mereka keluar. Namun mereka lupa bahwa anak yang dibiarkan untuk pasif dan terisolasi di rumah, besar kemungkinan akan mengalami autisme sebesar 30%. Tujuan dari penulisan ini adalah membangun kriteria ruang ramah anak penyandang down syndrome dengan pendekatan sensory stimulan. Metode penelitian ini menggunakan metode kualitatif dimana berfokus pada stdi literatur dari jurnal penelitian dan landasan teori, serta mempelajari dan memahami teori dari beberapa sumber jurnal, buku dan penelitian. Hasil dari penelitian ini terkait dengan 7 indra pada penerapan sensory stimulan. Diantaranya penglihatan dari bentuk geometri yang berbeda-beda serta warna pada fasad, indra penciuman dan perasa dari vegetasi yang aroma wangi, indra pendegaran dengan mendengarkan gemercik air kolam, indra peraba dengan membuat berbagai macam material, skeleton untuk mengetahui jarak berdasarkan material pedestrian, serta proporsi jarak atau ketinggian pada material di dalam ruang terapi indoor. Kata-kunci: kriteria ruang, down syndrome, sensory stimulan

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Georgescu, Madalina, Magdalena Cernea e Valeria Balan. "Postural Control in Down Syndrome Subjects". In 5th International Congress on Physical Education, Sport and Kinetotherapy. Cognitive-crcs, 2016. http://dx.doi.org/10.15405/epsbs.2016.06.35.

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Malik, M. R. "Infection and Immunodeficiency in Down Syndrome". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1361.

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Garcia, Lucy, Augusto Salazar, Mauricio Garcia, Sayira Hernandez e Cesar Gomez. "VIDEO GAME ANALYTICS AND DOWN SYNDROME". In eLSE 2018. ADL Romania, 2018. http://dx.doi.org/10.12753/2066-026x-18-036.

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Today there are many children with Down Syndrome (DS) who have difficulties in the teaching-learning process in general and in particular in mathematics. These difficulties have their primary origin in the intellectual disability that is manifested to a greater or lesser extent in people with DS (PDS) due to a genetic alteration characterized by an additional copy of chromosome 21. This genetic imbalance causes a decrease in the number of neurons and synaptic connections which in turn makes mental and motor processes slower for them than for other people. Notwithstanding the preceding, the population retains its capacity for learning and improvement, even there is no limit to the development of their skill is as long as they provide the right incentives. On the other hand, ICTs have proven to be an inclusive tool with the population in cognitive impairment such as DS. Experts affirm that these people do have interest and can make use of technologies, which constitute a valuable instrument to increase the probability of becoming more independent and active in the community. In this sense, actions have been undertaken to promote the social inclusion of this population by promoting access to ICT, respecting their right to access information and communication. In this way, the digital divide is reduced, and educational, labor and social inclusion are favored. According to the above, the design of a prototype of an educational video game in mathematics that is inclusive with PDS was proposed. This game is based on three own activities of daily living of people who require basic knowledge in mathematics. Each of the activities starts at a basic level of difficulty, and to the extent that the user manages to perform each of them adequately, the difficulty of them will increase. The objective of the first activity of the game is to identify shapes and colors correctly, the other is to count, and the last is to organize elements according to form. Since some users with or without DS can have limitations in language development, the game was designed so that from the same user interaction with the application could be obtained data showing some aspects of the teaching-learning process and familiarization and use of the proposed tool. These analytical data extracted directly from the interaction with the game facilitates the evaluation of it, especially in populations where language is not fully developed and thus have limitations in intelligibility and speech.

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Murat, Zunairah Hj, R. S. S. A. Kadir, Nadiah Kamaruzaman e Mastura Rosdi. "Retraction Notice: Down syndrome and non-down syndrome: Electromagnetic radiation for the physical and psychological conditions". In 2015 International Conference on Information & Communication Technology and Systems (ICTS). IEEE, 2015. http://dx.doi.org/10.1109/icts36314.2015.10399384.

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Benevides Barreto, Debora, Carolina dos Santos Freitas, Emili Gomes Henriques, Thalia Pereira Silva, Thalyta Márjory Fernandes Costa e Luciano Matos Chicayban. "Effects of exercise on patients with Down syndrome". In 7th International Congress on Scientific Knowledge. Biológicas & Saúde, 2021. http://dx.doi.org/10.25242/8868113820212390.

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Patients with Down syndrome have a delay in neuropsychomotor development. For this reason, physiotherapy is indicated early, in order to stimulate motor activities and provide a better quality of life. To verify the effects of exercise on the quality of life of patients with Down syndrome. A non-systematic review was carried out through a search in the PEDro database, with randomized clinical trials, published between 2008 and 2019, using the following keywords: exercise down, down syndrome physiotherapy. Six studies were included for review. Strength increased with various exercises in the 5 studies in which it was evaluated. Three studies showed improved balance with the use of resistance, isokinetic and stabilization exercises. Two articles evaluated physical function, based on resistance exercises, and only one improved. One article assessed blood glucose, fat, cholesterol and blood pressure, but there were no significant differences. Exercise improves important aspects such as strength and balance, with different types of intervention for patients with Down syndrome, reinforcing the importance of early physical therapy.

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Qian Zhao, Kenneth Rosenbaum, Kazunori Okada, Dina J. Zand, Raymond Sze, Marshall Summar e Marius George Linguraru. "Automated down syndrome detection using facial photographs". In 2013 35th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2013. http://dx.doi.org/10.1109/embc.2013.6610339.

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Rapporti di organizzazioni sul tema "Down syndrome"

Martín -Sabarís, RM, e G. Brossy-Scaringi. Augmented Reality for Learning in People with Down Syndrome: an exploratory study. Revista Latina de Comunicación Social, giugno 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), ottobre 2020. http://dx.doi.org/10.25302/10.2020.ad.150731567.

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van der Haar, Sandra, e 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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Wilbur, Jane, e Chloe Morrison. Adapting Menstrual Health Interventions for People with Intellectual Disabilities in Emergencies. The Sanitation Learning Hub, Institute of Development Studies, agosto 2023. http://dx.doi.org/10.19088/slh.2023.012.

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The Bishesta campaign – a menstrual health intervention for people with intellectual disabilities and their caregivers in Nepal, was developed to help improve menstrual health for this population in non-humanitarian settings (Wilbur et al. 2021a). The campaign was developed by the London School of Hygiene & Tropical Medicine (LSHTM) and WaterAid and delivered in collaboration with the disability service provider, the Down Syndrome Society Nepal, and the Centre for Integrated Urban Development, a local WASH non-government organisation. Following a positive feasibility study (Wilbur et al. 2019a), the Bishesta campaign was ready for efficacy testing or adapting for another context. Due to the lack of attention to people with disabilities’ menstrual health during emergencies, World Vision and the LSHTM adapted the Bishesta campaign for humanitarian responses in Vanuatu and called it the Veivanua campaign. This Frontiers of Sanitation issue presents: the research that preceded the development of these campaigns, the two campaigns, explains the adaptation process, and documents critical considerations for others wishing to revise the campaigns for different settings. This issue will interest practitioners working in menstrual health for people with and without disabilities in the development or humanitarian context.

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Developmental language disorder. ACAMH, maggio 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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