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Search Results: 1 - 10 of 13444 matches for " Down syndrome "
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Risk Factors for Development of Children with Down Syndrome in Brazil  [PDF]
Wesley Correa, Maria de Fatima Minetto, Rafaeli Cappellaro-Kobren, Josafá Moreira Cunha
Creative Education (CE) , 2015, DOI: 10.4236/ce.2015.612128
Abstract: The study of risk factors that affect the development of children with Down syndrome (DS) has been the main subject of several studies. In the Brazilian context, the development of instruments to identify such risks is still a challenge. The current study had the objective of examining the characteristics of a diagnostic organizer instrument which detects risk factors for development. The study was conducted in a clinic that offers services to children with DS in a Public Hospital in Curitiba, Brazil—and 15 parents of children from 0 - 8 years with DS that use the ambulatory service were interviewed, while the children’s medical records were also consulted. With the use of the Organization Diagnostic for Early Intervention (ODAP (GAT, 2008)), current and past conditions of child development as well as risk factors were evaluated. The research provided an organization of diagnostic, identifying cumulative risks factors for child development with emphasis on biological and environmental factors, and revealed vulnerabilities. The study provided a comprehensive understanding about the influence of the risk factors to development, as well as informing the development of strategies for intervention to enhance protective factors and promote positive child development and higher quality in family and social relationships.
A existência de altera??es neurofisiológicas pode auxiliar na compreens?o do papel da hipotonia no desenvolvimento motor dos indivíduos com síndrome de Down?
Corrêa, Jo?o Carlos Ferrari;Oliveira, Adriano Rodrigues de;Oliveira, Cláudia Santos;Corrêa, Fernanda Ishida;
Fisioterapia e Pesquisa , 2011, DOI: 10.1590/S1809-29502011000400014
Abstract: the purpose of this study was to analyze and verify the existence of neurophysiological changes in individuals with down syndrome, such as hyporeflexia, static and dynamic, which, if present, may cause impairment in sensory-motor control of muscles, and consequently hypotonia, contributing to changes in motor development. the electromyographic signal (emg), start and termination electromyographic signal, was collected from 24 volunteers with a diagnosis of down syndrome and 25 volunteers as controls for 2 different situations: the dynamic latency period and monosynaptic reflex (static) patellar and achilles. for neurophysiological aspects, it was observed that for all variables analyzed, statistical difference (p<0.05) between groups. the existence of neurophysiological changes (delay of the latency period) demonstrated in this study originated from an impairment in sensory-motor control, which may account for the decreased muscle tone, presents as one of several possible factors for the changes in motor development of children, which shows important due to neuromuscular disorders that can interfere in functional activities.
Avalia??o do eixo hipotalamico-hipofisário-tireoidiano em crian?as com síndrome de Down
Oliveira, Ana Tereza de A.;Longui, Carlos A.;Calliari, Luis Eduardo P.;Ferone, Eduardo de A.;Kawaguti, Fábio S.;Monte, Osmar;
Jornal de Pediatria , 2002, DOI: 10.1590/S0021-75572002000400008
Abstract: objective: to determine the thyroid stimulating hormone (tsh) secretion in children with down syndrome (ds), who do not present clinical and laboratory evidence of classical hypothyroidism and concomitant undetectable antibodies. methods: fourteen children with ds with a mean age of 3.4 (±1.8) years were studied. patients with classical hypothyroidism or hyperthyroidism or those with positive antithyroid antibodies were excluded. the ds group was compared to a control group of 16 children with a mean age of 11.8 (±3.8) years, diagnosed as having familial short stature or constitutional growth delay. both groups underwent hormonal measurements at basal condition to determine serum tsh, t3, t4, free t4 and prolactin concentrations and after stimulation with thyrotropin releasing hormone (trh). thyroid hormones concentrations were also compared when children with ds were subdivided into two groups according to their basal tsh levels. results: basal tsh and prolactin levels were significantly higher in ds group. after stimulation with trh, tsh peak was higher in the ds group. the number of patients presenting basal tsh levels higher than 5 μu/ml and tsh peaks higher than 30 μu/ml were significantly higher in the ds group. conclusions: children with down syndrome present frequent increase in basal tsh concentrations, despite the presence of normal basal thyroid hormones levels and negative antithyroid antibodies. most of them (65%) show early intense response after trh stimulation. our data demonstrate that in spite of the absence of classic hypothyroidism and/or antithyroid antibodies, an abnormal pattern of tsh secretion occurred in patients with down syndrome, possibly related to hypothalamic dysfunction.
Intera??es verbais e n?o-verbais entre m?es-crian?as portadoras de Síndrome de Down e entre m?es-crian?as com desenvolvimento normal
Silva, Maria dos Prazeres Vieira da;Salom?o, Nádia Maria Ribeiro;
Estudos de Psicologia (Natal) , 2002, DOI: 10.1590/S1413-294X2002000200012
Abstract: the present study investigated mother-child interactions in children with down syndrome and with normal development, considering the communicative aspects. in this study, two groups participated: six dyads mother-child with down syndrome, age between 18 and 24 months and six dyads mother-child with normal development, age between 12 and 14 months. the dyads were videotaped in their homes. the results indicated that the mothers of the children with down syndrome used more physical contact to help the children accomplish their activities, than the mothers of children with normal development. the children with down syndrome answered less to the mothers' verbal solicitations than the children with normal development. the results are discussed considering the implications for the mother-child interactive context and for language acquisition.
Caso para diagnóstico
Silva, Roberto Souto da;Miranda, Carolina Villela da Rocha;Bressan, Aline Lopes;Fontenelle, Elisa;Scotelaro, Maria de Fátima G.;
Anais Brasileiros de Dermatologia , 2010, DOI: 10.1590/S0365-05962010000300019
Abstract: idiopathic calcinosis is a rare disease characterized by abnormal deposit of calcium salts on the dermis. it has several clinical presentations. in patients suffering from down syndrome, there is a rare association with idiopathic calcinosis lesions similar to milium.
Down syndrome with congenital hydrocephalus: case report
Forcelini, Cassiano Mateus;Mallmann, Adroaldo Baseggio;Crusius, Paulo Sérgio;Seibert, Cláudio Albano;Crusius, Marcelo Ughini;Zandoná, Denise Isabel;Carazzo, Charles;Crusius, Cassiano Ughini;Goellner, Eduardo;Ragnini, Jean;Manzato, Luciano Bambini;Winkelmann, Gustavo;Lima, Aline Vieira;Bauermann, Manfred Georg;
Arquivos de Neuro-Psiquiatria , 2006, DOI: 10.1590/S0004-282X2006000500031
Abstract: down syndrome is the most frequent genetic cause of mental retardation. although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. the case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. the patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.
Altera??es eletrencefalográfricas na síndrome de Down
NóBREGA, ANA MOEMA PEREIRA DA;NUNESMAIA, HENRIQUE GIL DA SILVA;VIANA, NANCY DE OLIVEIRA;FILGUEIRAS, MARCOS AURéLIO SMITH;
Arquivos de Neuro-Psiquiatria , 1999, DOI: 10.1590/S0004-282X1999000400007
Abstract: the frequency of epilepsy in down syndrome (ds) has been reported in literature varying from 6 to 17%. a typical electroencephalografic (eeg) pattern has not been established for this condition. there is a great variation on eeg abnormalities, and most of them are not associated to behavior alterations or neurological signs. the aim of this study was to establish epidemiological and electroencephalografic parameters in institutionalised patients with clinical diagnosis of ds. we studied 77 individuals of both sexes, age ranging from 0-38 years old. the eeg was performed on all the patients; 20.7% had eeg abnormalities and 31.3% of these were epileptic. the non-epileptic patients presented inespecific eeg abnormalities. therefore, our data did not allow us to propose a typical eeg pattern for ds.
Muta??es no gene da metilenotetrahidrofolato redutase e síndrome de Down
Grillo, Laura Brunelli das Neves;Acácio, Gregório Lorenzo;Barini, Ricardo;Pinto Jr., Walter;Bertuzzo, Carmen Silvia;
Cadernos de Saúde Pública , 2002, DOI: 10.1590/S0102-311X2002000600035
Abstract: down syndrome (ds) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. the extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. a recent preliminary study suggested that abnormal folate metabolism and the 677 (c?t) mutation in the methylene-tetrahydrofolate reductase (mthfr) gene may be maternal risk factors for ds. frequency of the mthfr 677 (c?t) and 1298 (a?c) mutations was evaluated in 36 mothers of children with ds and in 200 controls. the results are consistent with the observation that the mthfr 677 (c?t) and 1298 (a?c) mutations are more prevalent among mothers of children with ds than controls. in addition, the most prevalent genotype was the combination of both mutations. the results suggest that mutations in the mthfr gene are associated with maternal risk for ds
Impacto da notícia da síndrome de Down para os pais: histórias de vida
Cunha,Aldine Maria Fernandes Vohlk; Blascovi-Assis,Silvana Maria; Fiamenghi Jr,Geraldo Antonio;
Ciência & Saúde Coletiva , 2010, DOI: 10.1590/S1413-81232010000200021
Abstract: this paper aimed to know and discuss a group of parents of down syndrome children reactions and feelings and the impact of the news and diagnostic. four couples whose children received the diagnostic of down syndrome participated in this research. data were collected through a semi-structured interview and the results were qualitatively analyzed, using categories. results indicated that all four couples relate the feeling of loss of the idealized son. it can be observed from this study the need for professional capacitating because the impact of the moment the family receive the news can interfere in the family's dynamic, as well as in the child's development.
Compara??o do léxico de crian?as com Síndrome de Down e com desenvolvimento típico de mesma idade mental
Ferreira, Amanda Tragueta;Lam?nica, Dionísia Aparecida Cusin;
Revista CEFAC , 2012, DOI: 10.1590/S1516-18462011005000041
Abstract: purpose: to check the lexical, receptive and expressive performance, of children with ds and compare it with the lexical performance of typically developing children matched for gender and mental age. method: the study included 40 children, 20 with down syndrome (experimental group - eg), of both genders, with age varying between 36 and 71 months and 20 typically developing children (control group - cg), matched according to gender and mental age (psychological assessment with the new version of the stanford-binet method, adapted by terman and merrill) with eg. after the guardians have signed the consent paper, they responded to an interview protocol containing information about the previous life of the subject. the evaluation was made by applying peabody picture vocabulary test (ppvt), which assesses receptive vocabulary, and child language test abfw - vocabulary part b, which assesses expressive vocabulary. results: subjects in the eg had underperformed in the gc in the ppvt and in verbal description usual in abfw, with significant statistical differences. there was a correlation between performance on receptive and expressive vocabulary of both groups. conclusion: it was found that the lexical, receptive and expressive performance, in children with ds is lower than in typically developing children, even when matched as for mental age.
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