Submitted by Renata Lopes (renatasil82@gmail.com) on 2016-03-29T13:42:08Z No. of bitstreams: 1 flaviaalmeidaribeiroscalioni.pdf: 2339144 bytes, checksum: fc488fda19373aa72588dc3ad1e242c3 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2016-04-24T02:47:32Z (GMT) No. of bitstreams: 1 flaviaalmeidaribeiroscalioni.pdf: 2339144 bytes, checksum: fc488fda19373aa72588dc3ad1e242c3 (MD5) / Made available in DSpace on 2016-04-24T02:47:32Z (GMT). No. of bitstreams: 1 flaviaalmeidaribeiroscalioni.pdf: 2339144 bytes, checksum: fc488fda19373aa72588dc3ad1e242c3 (MD5) Previous issue date: 2013-04-30 / CAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / Crianças com síndrome de Down (SD) apresentam uma baixa prevalência de cárie dentária. Embora os Streptococcus mutans e Streptococcus sobrinus estejam associados com a cárie dentária em humanos, o seu papel na etiologia da doença em crianças com SD ainda não está completamente esclarecido. Desta forma, este estudo transversal teve como objetivo avaliar a experiência de cárie dentária e a contagem de S. mutans, S. sobrinus e estreptococos presentes na saliva de crianças com SD (grupo SD) em comparação com crianças não sindrômicas (grupo ND). A amostra incluiu trinta crianças com SD (com idade entre três e 12 anos) e trinta crianças (com idade entre quatro e 12 anos) sem a síndrome, pareadas por idade e sexo. O exame da condição dentária foi realizado para determinar o número de dentes decíduos cariados, com extração indicada e obturados (índice ceo-d) e o número de dentes permanentes cariados, perdidos e obturados (índice CPO-D), de acordo com os critérios de diagnóstico de cárie dentária da OMS. Amostras de saliva total não estimulada foram coletadas de todas as crianças. A técnica da hibridização in situ fluorescente (FISH) identificou a presença e o número de bactérias cariogênicas na saliva. O teste qui-quadrado foi usado para a análise das variáveis categóricas e o teste t de Student foi usado para a análise das variáveis contínuas. Adotou-se o nível de significância de 5% (p < 0,05). As crianças do grupo SD apresentaram significativamente uma experiência de cárie dentária mais baixa (p < 0,001) e mais baixa contagem de S. mutans na saliva (p < 0,001), em comparação com as crianças do grupo ND. Não se observou nenhuma diferença estatisticamente significativa na contagem de S. sobrinus e estreptococos presentes na saliva entre os dois grupos (p = 0,09 e p = 0,21, respectivamente). As contagens de S. mutans e S. sobrinus presentes na saliva, determinadas pela técnica de FISH, não se associaram a mais baixa experiência de cárie dentária observada entre as crianças com síndrome de Down. / Down syndrome (DS) children are known to present a low dental caries prevalence. Although Streptococcus mutans and Streptococcus sobrinus are associated with dental caries in humans, their role in the etiology of dental caries in DS children is not entirely clear. Therefore this cross-sectional study aimed to assess the dental caries experience as well as the salivary counts of S. mutans, S. sobrinus and streptococci in DS children (group SD) in comparison with non-Down syndrome children (group ND). The sample included 30 DS children (aged 3-12 years) and 30 age and sex-matched ND children (aged 4-12 years). Dental examinations were performed to determine the numbers of decayed, missing and filled teeth in primary (dmf-t index) and permanent (DMF-T index) dentition according to the WHO dental caries diagnostic criteria. Unstimulated whole saliva samples were collected from all children. The fluorescence in situ hybridization (FISH) technique identified the presence and numbers of the cariogenic bacteria in saliva. The chi-square test was used to analyze the categorical variables and the Student’s t-test was used for the continuous variables. The significance level was set at 5% (p < 0.05). Children of DS group showed significantly lower dental caries experience (p < 0.001) and salivary counts of S. mutans (p < 0.001) compared to children of ND group. No significant difference was found in the salivary counts of S. sobrinus and streptococci between the two groups (p = 0.09 and p = 0.21, respectively). The salivary counts of S. mutans and S. sobrinus determined by the FISH technique were not associated with the lower caries experience observed in Down syndrome children.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2017-09-27T17:36:16Z No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 2344497 bytes, checksum: 0157deb2672226f5c62355c30c9919f4 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-09-28T14:10:36Z (GMT) No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 2344497 bytes, checksum: 0157deb2672226f5c62355c30c9919f4 (MD5) / Made available in DSpace on 2017-09-28T14:10:36Z (GMT). No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 2344497 bytes, checksum: 0157deb2672226f5c62355c30c9919f4 (MD5) Previous issue date: 2017-09-15 / Introdução: As crianças com síndrome de Down apresentam atraso do desenvolvimento neuropsicomotor, o que determina uma dificuldade na aquisição do treinamento esfincteriano. O presente estudo tem como objetivo estimar a idade de início e conclusão do treinamento esfincteriano nas crianças com síndrome de Down, comparando-as com crianças neurotípicas, assim como avaliar o método de treinamento esfincteriano usado e a associação com sintomas do trato urinário inferior e constipação intestinal funcional. Pacientes e métodos: Foi realizado um estudo caso-controle de 2010 a 2015. Todos os pais ou responsáveis responderam a um questionário elaborado para avaliar qual o processo de treinamento esfincteriano foi utilizado.Os sintomas do trato urinário inferior foram avaliados por meio da aplicação da versão validada e adaptada do Dysfunctional Voiding Symptom Score para a população brasileira. A presença de constipação intestinal funcional foi avaliada de acordo com os critérios de Roma III. Resultados: O estudo incluiu 93 crianças com síndrome de Down e 204 crianças neurotípicas (Grupo Controle). A idade média para iniciar o treinamento esfincteriano foi 22,75 meses nas crianças com síndrome de Down e 17,49 meses no grupo controle (p= 0,001). Em crianças com síndrome de Down, a idade média para concluir o treinamento esfincteriano foi de 56,25 meses e 27,06 meses no grupo controle (p= 0,001). As meninas com síndrome de Down completaram o treinamento esfincteriano mais precocemente (p= 0,02). O método de treinamento esfincteriano mais usado foi abordagem orientada para a criança. Não houve associação com a presença de sintomas do trato urinário inferior ou constipação intestinal funcional e a idade de início e de conclusão do treinamento esfincteriano em ambos os grupos. Conclusão: As crianças com síndrome de Down apresentaram um tempo prolongado de treinamento esfincteriano, sendo que as meninas concluíram o processo mais cedo. Estudos de coorte são essenciais para obter uma melhor avaliação sobre o processo de treinamento esfincteriano em crianças com síndrome de Down. / Introduction: Children with Down syndrome have delayed psychomotor development, which determines the level of difficulty in toilet training. The current study aims to estimate at what age they start and complete toilet training compared to children with typical psychomotor development, as well as to evaluate the toilet training method used and any association with lower urinary tract symptoms and functional constipation. Patients and methods: A case-control study was carried out from 2010 to 2015. All parents completed a questionnaire designed to assess the toilet training process. Lower urinary tract symptoms was assessed through the application of the Dysfunctional Voiding Symptom Score. The presence of functional constipation was evaluated according to the Rome III criteria. Results: The study included 93 children with Down Syndrome and 204 children with normal psychomotor development (Control Group). The average age children started toilet training was 22.75 months in those with Down Syndrome and 17.49 months in the Control Group (p= 0.001). In children with Down Syndrome, the average age when completing toilet training was 56.25 months and 27.06 months in the Control Group (p= 0.001). Among children with Down Syndrome, females completed toilet training earlier (p= 0.02). The toilet training method used most often was child-oriented approach in both groups. There was no association with the presence of lower urinary tract symptoms or functional constipation and the age of begin and complete toilet training in both groups. Conclusion: Children with Down Syndrome experiencedprolonged toilet training time. Females with Down Syndrome complete toilet training earlier. Cohort studies are essential to gain insight into thetoilet training process in children with Down Syndrome.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2018-04-27T11:12:14Z No. of bitstreams: 1 sarahderezendecrolman.pdf: 1111502 bytes, checksum: 3b476a18636162c362822d7e334ecfb0 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2018-09-03T12:12:36Z (GMT) No. of bitstreams: 1 sarahderezendecrolman.pdf: 1111502 bytes, checksum: 3b476a18636162c362822d7e334ecfb0 (MD5) / Made available in DSpace on 2018-09-03T12:12:36Z (GMT). No. of bitstreams: 1 sarahderezendecrolman.pdf: 1111502 bytes, checksum: 3b476a18636162c362822d7e334ecfb0 (MD5) Previous issue date: 2018-02-23 / Este estudo teve como objetivo identificar e descrever estilos e práticas educativas parentais de genitores com filhos com síndrome de Down (SD) e verificar as suas inter-relações com problemas de comportamento. Foram respondentes deste estudo 16 mães e 9 pais de crianças com SD com idades entre 5,7 a 10,7 anos. Os instrumentos utilizados foram: o Questionário de Caracterização do Sistema Familiar, o Inventário de Práticas Parentais, o Questionário de Estilos Parentais (PAQ) e o Inventário de Problemas de Comportamento (BPI-01). Os resultados mostraram que a mãe é a principal responsável pelos cuidados com a casa e com o filho/a com SD. Quanto a rede de apoio social, os membros da família extensa da mãe são os que mais frequentemente oferecem apoio ao grupo e quanto à rede não familiar, destacaram-se vizinhos e amigos e, por último, profissionais e instituições. No que se refere aos estilos parentais, identificou-se que a maioria dos genitores apresenta estilo parental autoritativo, seguido pelo autoritário, sendo que o permissivo não foi evidenciado. Não foram encontradas diferenças significativas entre as práticas parentais de pais e mães, entretanto, verificou-se que ambos realizam mais as práticas da dimensão afeto e menos as práticas de didática. De acordo com os genitores, o problema de comportamento mais frequente apresentado por seus filhos foi o estereotipado e os menos frequentes foram os autoagressivos e agressivos. Foram obtidas correlações moderada e negativa entre o estilo parental autoritário e a prática parental de envolvimento disciplinar e negativa e fraca entre o envolvimento disciplinar e a severidade de comportamentos estereotipados. Obteve-se, ainda, correlação positiva entre o estilo parental autoritário e a severidade de problemas de comportamentos estereotipados. Esses resultados indicam, portanto, que práticas negativas estão relacionadas positivamente com problemas de comportamentos, o que corrobora a literatura. Tendo em vista a escassez de pesquisas desse tipo de investigação, destaca-se a importância de mais estudos nessa área. / This study aimed to identify and describe parenting styles and educational practical from progenitors of Down syndrome (DS) children and verify their relationship with behavioral problems. The study participants were 16 mothers and 9 fathers of children with DS. The instruments used were: Questionnaire of Family System Characteristics, Parenting Practical Inventory, Parenting Styles Questionnaire (PAQ) and the Behavior Problems Inventory (BPI-01). The results have showed that the mothers are the main responsible for home and SD child care. About the social network of social support, relatives from mother’s family are most of time the support to the group. About the non-family network, can be highlighted the neighborhood, friends as well as professionals and institutions. Regarding to parenting styles was seen that most of the progenitors show an authoritative style followed by the authoritarian, whereas the permissive was not demonstrated. Expressive differences were not found between fathers and mothers parenting practices, however it was verified that both have accomplished more the affective practices than didactic practices. According to the progenitors, the most frequent behavioral problem presented by their children was the stereotyped behavior, and the less expressed were the self-aggressive and aggressive behavior. Moderated and negative correlations were obtained from the authoritarian parental style and parental practice of disciplinary involvement, and weakened and negative correlations from the disciplinary involvement and the severity of stereotyped behaviors. Furthermore, were also obtained positive correlation between the authoritarian parental style and the severity of stereotyped behavior problems. Therefore, these results points out that negative practice are related positively with behavioral problems, which corroborate to the literature. As long as researches in this area are limited, the importance of further studies is highlighted.

Les personnes souffrant d’un syndrome de Down (SD), appelé aussi trisomie 21, ont vu leur espérance de vie augmenter bien au delà des 50 ans induisant l’apparition de démence de type Alzheimer (DTA). Les conséquences de cette augmentation de l'espérance sont multiples : difficulté à diagnostiquer une démence au sein d'une population présentant des déficientes intellectuelles, difficulté de prise en charge de cette population, etc. Ainsi, les établissements médicoOsociaux et les centres de consultation mémoire restent désarmés face à la prise en charge et au diagnostic de cette population. Notre travail de thèse a eu pour objectif d'aborder l'ensemble des difficultés lié à cette problématique.Nos travaux ont ainsi mis en exergue : 1/ cette problématique concerne aussi bien les structures pour personnes âgées que celles pour personnes handicapées 2/ il existe une véritable difficulté à diagnostiquer la présence d'une démence auprès de cette population. Pour répondre à cette difficulté nous avons élaboré et testé un outil d'aide au diagnostic 3/ la problématique de diagnostic, de formation des professionnels PA/PH et de prise en charge de cette population (activités, locaux non adaptés, taux d’encadrement insuffisant, médicalisation accrue..) via la modélisation organisationnelle des parcours de vie des personnes atteintes de SD et de DTA notamment. Cette modélisation montre l’impact sur l’évolution des organisations et des institutions d’accueil ainsi que le manque de lien entre le secteur sanitaire et médico social. Des pistes sont discutées. / People with Down syndrome (DS), also known as trisomy 21, have seen their life expectancy increase beyond 50 years inducing the onset of AlzheimerOtype dementia (DTA). The consequences of this increase in life expectancy are multiple: difficulty of diagnosing dementia in a population with intellectual disabilities, difficulty of care for this population, etc. Thus, specialised institution and memory clinics remain powerless against the management and diagnosis of this population. Our thesis has aimed to address all the challenges related to this issue.Our work thus highlighted: 1 / this problem concerns both for the elderly than for the disabled, 2 / there is a real difficulty in diagnosing the presence of dementia in this population. To meet this challenge we have developed and tested a diagnostic aid tool. 3 / diagnostic problematic, professional training and support for people in charge of this population (activities, unsuitable premises, insufficient teacher ratio, increasing medicalization, etc.) via organizational modelling the life course of individuals suffering from SD and DTA. This model shows the impact on the evolution of organizations and host institutions and the lack of connection between the health sector and medicoOsocial. Hypothesis and possible solutions are discussed.

The unique physical features of the child with Down syndrome (DS) may lead to stigmatization and social isolation of the child, as well as their entire families. A child with DS may require some help and constant attention from the primary caregiver and may even be permanently dependent, depending on the severity of DS. The researcher has explored and described the experiences of primary caregivers of children with DS in the Kwazakhele community while caring for these children. The research study employed a qualitative, exploratory, descriptive and contextual research design. The research population included primary caregivers of children with DS who were between ages of two years and older because a DS diagnosis can be delayed and only be discovered later in life. Purposive sampling was used to select the research participants. The data was collected using in-depth one-on-one interviews, and all interviews were recorded using a voice recorder. Thematic analysis as a version of content analysis was used, meaning the researcher used themes and sub-themes to analyze data with the help of an independent coder. A pilot study was conducted before undertaking the actual research using the same methods and designs as those of the main study. Strategies were implemented throughout the study to ensure trustworthiness and adherence to ethical principles. The study findings revealed that the participants experienced diverse emotions upon initially finding out that their child has DS. The participants indicated that they had to modify their lives including having to give up their personal lives just to ensure that their children got the best care and their full attention. It appeared that some participants got full support from their partners and families, while other participants had no support system. With further exploration, it emerged that the study participants shared some positive experiences with their children with DS. However, they indicated a need for relevant education facilities for their children as well as community support. Recommendations were made with regard to nursing education, nursing practice and nursing research.

Abstract The present study surveyed medical problems and mental health in an unselected population-based series of people with Down syndrome (DS). All people with DS identified in the Intellectual Disability Service Register in the Kainuu region (n=138) were included, and their health and disability case records in the public services were analysed. The severity of intellectual disability was related to age, gender, and recorded medical problems. Adaptive behaviour changes were assessed among adults repeatedly during ten years using the Adaptive Behaviour Scale - Residential and Community, Part I. The study evaluated health surveillance and practices were compared to the national Current Care guidelines. Numerous medical problems and behavioural symptoms were recorded in this population. Surgical treatments were used extensively. The number of medical problems varied to a great degree among participants. Health problems were extensive from birth to old age. Many health concerns were age-related. The degree of intellectual disability related to visual and neurological impairments. Depression, and among participants in their forties and older, Alzheimer’s disease were the most common underlying reasons for changes in adaptive behaviour. A gradual functional decline and dementia affected many participants at a relatively early age. Visual acuity and hearing should be regularly monitored in all individuals with DS because of a high prevalence of visual impairment and hearing loss in this population. There was a general lack of evidence that the health care guidelines initiated five years ago were being followed. This suggests that possibilities to enhance health have not been optimally implemented. Therefore, further efforts are needed to diagnose and treat medical problems in people with DS. / Tiivistelmä Tutkimuksessa kuvattiin todettujen terveysongelmien yleisyyttä ja terveysseurannasta annettujen suositusten toteutumista Downin oireyhtymässä. Nykyisin Kainuussa elävien Down -henkilöiden tietojen lisäksi alueella aiemmin asuneiden saatavissa olevat sairaus- ja huoltokertomustiedot analysoitiin (n=138). Kehitysvammaisuuden vaikeusasteen, iän, sukupuolen ja todettujen sairauksien yhteyksiä selvitettiin. Aikuisten ja ikääntyvien Down -henkilöiden toimintakykyä seurattiin kymmenen vuoden ajan käyttäen Adaptiivisen käyttäytymisen asteikkoa. Käypä hoito -suosituksen toteutumista terveysseurannan osalta arvioitiin. Down -henkilöillä oli todettu lukuisia terveysongelmia ja käytösoireita kaikissa ikäryhmissä. Kirurgisia hoitoja oli tehty paljon. Yksilölliset erot sairastavuudessa ja toimintakyvyssä olivat erittäin huomattavat. Monet terveysongelmista liittyivät tiettyyn ikään. Vaikeasti kehitysvammaisilla todettiin enemmän silmäsairauksia ja näön ongelmia sekä neurologisia sairauksia kuin lievästi tai keskivaikeasti kehitysvammaisilla. Masennus ja yli 40 vuoden ikäisillä Alzheimerin tauti olivat yleisimmät toimintakyvyn heikentymisen syyt. Toimintakykvyn heikentyminen alkoi usein 40 ikävuoden jälkeen ja moni sairastui suhteellisen nuorena dementiaan. Kaikkien Down -henkilöiden kuuloa ja näköä tulisi seurata säännöllisesti, koska kuulon alentuminen ja näön ongelmat ovat yleisiä ja jäävät usein toteamatta. Hoitosuositukset eivät toteutuneet ainakaan säännöllisen kuulon ja kilpirauhasen toiminnan seurannan osalta viiden vuoden kuluessa suositusten antamisesta. Terveysseurannan parempi toimeenpano terveyden edistämiseksi on mahdollista. Down henkilöiden sairauksien toteamisen ja hoidon kehittäminen vaatii edelleen työtä.

La trisomie 21 est la première cause de retard mental, phénotype majeur de la maladie. Elle est due à la présence d’un chromosome 21 supplémentaire. De nombreux gènes sont présents sur ce chromosome mais quelques-uns ont été proposés comme candidats pour les phénotypes neurocognitifs associés à la maladie, notamment le gène Dyrk1a. Il code pour une sérine-thréonine kinase, DYRK1A, à rôle majeur dans le développement cérébral et l’activité synaptique. Le cortex préfrontal sous-tend un ensemble de fonctions cognitives supérieures dont les fonctions exécutives et est impliqué dans la régulation du comportement émotionnel et de l’humeur, composantes largement affectées dans la trisomie 21. Ce travail de thèse a permis de caractériser des défauts majeurs de la transmission et la plasticité synaptique glutamatergique au sein du cortex préfrontal de deux modèles murins différents de trisomie 21: le modèle mBACtgDyrk1a surexprimant le gène murin Dyrk1a et le modèle Ts65Dn surexprimant 130 gènes de l’analogue murin du chromosome 21 dont Dyrk1a. Un autre versant de l’étude a concerné l’utilisation d’un composé inhibiteur de l’activité DYRK1A ou d’autres cibles cellulaires pour corriger les altérations préfrontales observées, constituant ainsi de nouvelles pistes thérapeutiques pour les phénotypes neurocognitifs associés à la trisomie 21. / Down syndrome is the major cause of mental retardation, the main phenotype of the pathology. It is due to an extra chromosome 21. Many genes have been proposed as candidates for the neurocognitive phenotypes of Down syndrome, notably Dyrk1a. It encodes the serine-threonine kinase DYRK1A which is involved in brain development and synaptic functions. The prefrontal cortex mediates higher cognitive functions, such as executive functions and emotional regulation. This study highlighted major deficits in prefrontal cortex glutamatergic transmission and plasticity of two mouse models for Down syndrome: the overexpressing Dyrk1a mBACtgDyrk1a model and the Ts65Dn model, overexpressing around 130 murine orthologous genes of HSAS21 chromosome. Another aspect of this study was the development of new effective therapeutic strategy for Down syndrome neurocognitive phenotypes based on DYRK1A or other cellular targets activity inhibition.

Magister Scientiae (Physiotherapy) - MSc(Physio) / Transition from school to work entails the preparation, education and training of learners, leading to their placement in desired work situations. The right of children with disabilities to be included in ordinary schools and employment thereafter is being advocated internationally. However, despite this, preparation for transition from school to work still poses a major challenge for many learners with intellectual disabilities. The aim of this study was to explore how schools in the Cape Metropole, South Africa, are preparing adolescent learners with Down syndrome for the transition to work. The objectives of the study were to explore: school policies related to the transition process; schools’ physical and psychosocial environments; the link between schools and the community; learners’ acquisition of skills and education support services. Collaborative qualitative research design was used with a partnership between the researcher and the Western Cape Down Syndrome Association. The participants included two teachers with experience of teaching learners with intellectual disabilities, two parents of adolescent learners with Down syndrome, ten participants with Down syndrome, amongst them, two adolescent youths in post school training who were identified in this study as role models and eight learners at school. As learners with Down syndrome might not be fluent in verbal communication, an alternative research strategy, photovoice was used. Photovoice (photography) was used a means of accessing learners’ views of the transition planning and making these views accessible to others. The eight schoolgoing learners were given cameras and requested to take photographs of things and experiences that helped to prepare them for work. The learners were then interviewed. Subsequently adults with Down syndrome (role models), who were in post school training, were also interviewed. Finally, parents and teachers were interviewed. Data analysis included translating, transcribing of raw data from the recorded tapes and content analysis by using codes and identifying themes. The synthesis of the findings from all the participants yielded multiple themes including: education support services: acquisition of skills: supportive relationships; home, community, classroom and school environments; and dreams of the participants. Ethical considerations included getting permission from the University of the Western Cape, the Western Cape Education Department, the principals of the schools, the participants and their parents/guardians. The study has illustrated that, given opportunities and proper preparation in school, adolescent learners with Down syndrome have the potential to become active members of society. For better outcomes of the transition planning process, there is need for: teachers to work closely with the parents; increased government support; job coaches and class assistants in the schools and a greater collaboration between government departments.

La place du Dépistage Prénatal Non Invasif (DPNI) n’est pas encore clairement définie dans le dépistage prénatal de la trisomie 21 en France. Nos objectifs étaient d’évaluer la compréhension, les connaissances, et l’attitude de professionnels de santé et de patientes concernant le DPNI.Une étude prospective multicentrique par questionnaire auprès de patientes enceintes et de professionnels de santé a été menée dans différents hôpitaux français entre février 2014 et juillet 2015.Sur les 260 questionnaires recueillis chez les professionnels, le score moyen de connaissances était 5,38±2,83(sur 10)et 92,7%(n=241) avaient une attitude favorable face au DPNI. En analyse multivariée, les facteurs associés à un bon niveau de connaissances étaient la profession de gynécologue ou de conseiller en génétique, l’âge<30 ans, le fait de travailler à l’hôpital ou en cabinet et le fait de suivre>50 grossesses par an.Sur les 380 questionnaires de patientes, le score moyen de connaissances était faible 2,20±1,88(sur 10) et 89,9%(n=328) avaient une attitude favorable face au DPNI. En analyse multivariée, les facteurs associés à un bon niveau de connaissances chez les patientes étaient l’âge maternel et le fait de consulter en secteur privé.Le niveau de connaissances des professionnels et des patientes sur le DPNI est faible. La plupart des patientes ne peuvent pas formuler de consentement éclairé. Toutefois, la plupart des professionnels et des patientes sont très en faveur de ce test. La généralisation du DPNI dans le dépistage de la trisomie 21 implique un important programme de formation des professionnels afin qu'ils délivrent une information prénatale de qualité et non directive. / The place of Non Invasive Prenatal Testing(NIPT) is not clearly established for prenatal screening for Down syndrome in France. Our objectives were to assess the understanding, knowledge of, and attitudes towards NIPT in French patients and healthcare providers.A prospective multicenter study was performed in several French hospital centers between February 2014 and July 2015. A survey was administered to pregnant patients and to healthcare professionals.A total of 260 questionnaires were completed by healthcare providers. The average knowledge score was 5,38±2,83(out of a possible 10). In multivariate analysis, the characteristics associated with satisfactory knowledge were: profession as obstetrician or genetic counsellor, age<30 years, working in hospital or in doctor’s office, more than 50 pregnancies followed per year. Among professionals, 92,7%n=241) had a favorable attitude towards NIPT.We collected 380 questionnaires from pregnant women. The average knowledge score was very low: 2,20±1,88(out of 10). In multivariate analysis, the two significant characteristics associated with satisfactory knowledge was maternal age and having prenatal care in private practice. Among patients, 89,9%(n=328) had a favorable attitude towards NIPT.The level of knowledge of NIPT of healthcare professionals and patients is low. Many patients can not provide informed consent. However most professionals and patients are in favor of the use of this test. The input of NIPT in prenatal screening for trisomy 21 requires a considerable teaching program for healthcare providers so they can give balanced pretest information and non-directive counselling.

Introdução: A síndrome de Down (SD) é uma alteração genética caracterizada pela presença de um cromossomo extra, suas principais dificuldades são causadas pelas alterações motoras e cognitivas que interferem na capacidade de realizar atividades diárias. Para propiciar funcionalidade às pessoas com SD, uma opção é utilizar tarefas em ambiente de realidade virtual para possibilitar o ganho de habilidades motoras. Objetivo: Avaliar o desempenho de pessoas com SD em tarefa virtual em telefone móvel. Método: Foi utilizado o jogo Marble Maze Classic®, onde os participantes moviam o telefone móvel para conduzir uma bola virtual por um desenho de labirinto. Foram avaliadas 100 pessoas separadas em dois grupos, sendo o grupo 1 (controle) formado por 25 participantes com Desenvolvimento Típico e grupo 2 (experimental) formado por 25 pessoas com SD, sendo o desenho do labirinto do grupo 2 totalmente oposto ao do grupo 1. Como variável dependente utilizou-se o tempo em segundos e foram submetidas a ANOVA. As comparações post-hoc foram realizadas por meio do teste Tukey-HSD (p < 0,05). Resultados: O grupo controle manteve o desempenho na fase de retenção e conseguiram transferir tanto no labirinto 1 como no 2. Já o grupo SD conseguiu transferir a tarefa apenas no labirinto 2. No labirinto 1 não conseguiu transferir quando invertemos o início e o fim do trajeto. Conclusão: Pessoas com SD conseguiram se adaptar a tarefa proposta, porém com desempenho sempre inferior às pessoas com DT. Assim como, demonstraram dificuldade em manter o desempenho com o aumento do grau de dificuldade da tarefa, o que sugere que novas tecnologias devem ser adaptáveis às dificuldades de pessoas com SD, permitindo assim maior funcionalidade / Introduction: Down syndrome (DS) is a genetic disorder characterized by the presence of an extra chromosome, which is typically associated with motor and cognitive changes that interfere with the ability to perform daily activities. To provide functionality to individuals with DS, one option is to use tasks in a virtual reality environment to enable gains in motor skills. Objective: To evaluate the performance of individuals with DS in a virtual task on a mobile phone. Method: The game Marble Maze Classic® was used, in which the participants moved the mobile phone to conduct a virtual marble through a maze design. We evaluated 100 individuals divided into group 1 and 2, where each group consisted of 25 participants in the control group (typical development) and 25 in the experimental group (DS), with group 2 using a maze design totally opposite to group 1. The dependent variable used was time in seconds and was subjected to ANOVA. Post-hoc comparisons were performed using Tukey\'s Honest Significant Difference test (p <0.05). Results: The control group maintained performance in the retention phase and was able to transfer both in maze 1 and 2. The DS group managed transfer to the task only in maze 2. In maze1, the DS group failed to transfer when we inverted the start and end of the path. Conclusion: People with DS have managed to adapt the proposed task, but with always underperform people with DT. As demonstrated difficulty in maintaining performance with increased task difficulty, suggesting that new technologies must be adaptable to the difficulties people with DS, thereby enabling increased functionality