International Medical Review on Down Syndrome最新文献_第6页

Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counselinga 唐氏综合症由于罕见的遗传15/21罗伯逊易位:遗传学和生殖咨询

International Medical Review on Down Syndrome Pub Date : 2013-09-01 DOI: 10.1016/S2171-9748(13)70040-0

L.M. Azevedo Moreira, L. Damasceno Espirito Santo, A. Fernandes Lacerda Carvalho

引用次数: 1

We have lost a great friend 我们失去了一位好朋友

International Medical Review on Down Syndrome Pub Date : 2013-09-01 DOI: 10.1016/S2171-9748(13)70039-4

Agustí Serés Dr.

引用次数: 0

Hypothyroidism and Down's syndrome 甲状腺功能减退和唐氏综合症

International Medical Review on Down Syndrome Pub Date : 2013-05-01 DOI: 10.1016/S2171-9748(13)70035-7

C. Claret , J.M. Corretger , A. Goday

{"title":"Hypothyroidism and Down's syndrome","authors":"C. Claret , J.M. Corretger , A. Goday","doi":"10.1016/S2171-9748(13)70035-7","DOIUrl":"10.1016/S2171-9748(13)70035-7","url":null,"abstract":"<div><h3>Introduction</h3><p>Subclinical hypothyroidism is common in the first years of life of children with Down's syndrome (DS). The aim of this study was to analyse the natural evolution of this disease and to identify the factors that predict its spontaneous remission.</p></div><div><h3>Material and methods</h3><p>A retrospective, observational study conducted on patients with DS and hypothyroidism diagnosed before 5 years of age, who were seen in a DS reference medical centre.</p></div><div><h3>Results</h3><p>A total of 53 patients, 28 boys and 25 girls, with a mean age 2.4±1.1 years, were identified with subclinical hypothyroidism. The hypothyroidism resolve spontaneously in 39 cases (73.6%), in a mean time of 13.2±11.1 months, this resolution rate being significantly higher in the patients without goitre: 94.9% (95% confidence interval [CI]: 81.2-99.3%) vs 28.6% (95% CI: 4.4-37.7%), <em>p</em> <em><</em> <em>.</em>05, and with negative antithyroid antibodies: 89.7% (95% CI: 74.6-96.2%), vs 42.9% (95% CI: 20.7–56%), <em>p</em> <em><</em> <!-->.05). Fifteen patients (28.3%) were treated with levothyroxine.</p></div><div><h3>Conclusions</h3><p>The subclinical hypothyroidism that appears in early infancy in DS is usually transient. The absence of goitre and antibodies is associated with a higher spontaneous resolution rate.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"17 2","pages":"Pages 18-24"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(13)70035-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82950731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Down's syndrome with abnormal inner ear: Is it suitable for cochlear implantation? 唐氏综合征并发内耳异常:是否适合人工耳蜗植入?

International Medical Review on Down Syndrome Pub Date : 2013-05-01 DOI: 10.1016/S2171-9748(13)70036-9

H. Eyzawiah , A. Suraya , A. Asma

引用次数: 2

A human rights issue 人权问题

International Medical Review on Down Syndrome Pub Date : 2013-05-01 DOI: 10.1016/S2171-9748(13)70034-5

K. Trias Trueta

引用次数: 1

Skills and social interaction of children with Down's syndrome in regular education 唐氏综合症儿童在常规教育中的技能和社会互动

International Medical Review on Down Syndrome Pub Date : 2013-05-01 DOI: 10.1016/S2171-9748(13)70037-0

R. Valdívia Lucisano , L.I. Pfeifer , M.P. Panuncio-Pinto , J.L. Ferreira Santos , P.P. Gomes Anhão

{"title":"Skills and social interaction of children with Down's syndrome in regular education","authors":"R. Valdívia Lucisano , L.I. Pfeifer , M.P. Panuncio-Pinto , J.L. Ferreira Santos , P.P. Gomes Anhão","doi":"10.1016/S2171-9748(13)70037-0","DOIUrl":"10.1016/S2171-9748(13)70037-0","url":null,"abstract":"<div><p>This study identifies the process of social interaction of children with Down's syndrome (DS) in the regular educational system of a city in the interior of São Paulo, Brazil. Six children aged from three to six years old participated in the study. Each child was videotaped in four situations of social interaction in two distinct environments (indoors and outdoors), which enabled the analysis of interpersonal and self-expression skills through the observation of 15 types of behaviors. The results reveal that the behavior type <em>“Interacts with another child”</em>, within the category “interpersonal skills”, was the most frequent both indoors and outdoors with an average of 27.5 and 28.3, respectively. With regard to “selfexpression skills”, only the behavior <em>“Smiles”</em> had a considerable number of occurrences indoors with an average of 8.16, while the behaviors <em>“Smiles”</em> and <em>“Imitates other children”</em> presented significant occurrence outdoors with averages of 5.16 and 3, respectively. The conclusion is that including children with DS in the regular educational system promotes new forms of learning and interaction for them through daily contact with children with typical development, enabling them to acquire social interaction skills.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"17 2","pages":"Pages 29-34"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(13)70037-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86344698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Socio-cognitive abilities in children with Down's syndrome: results of a preliminary study 唐氏综合症儿童的社会认知能力:一项初步研究的结果

International Medical Review on Down Syndrome Pub Date : 2012-09-01 DOI: 10.1016/S2171-9748(12)70026-0

A. Amadó , B. Benejam , J. Mezuca , E. Serrat , E. Vallès-Majoral

引用次数: 5

Therapeutic groups for children with dual pathology: Down's syndrome and autistic traits in Fundació Catalana Síndrome de Down 双重病理儿童的治疗组:Fundació Catalana Síndrome de Down的唐氏综合征和自闭症特征

International Medical Review on Down Syndrome Pub Date : 2012-09-01 DOI: 10.1016/S2171-9748(12)70028-4

B. Ortiz Guerra

引用次数: 0

Participation in the XI World Down's Syndrome Congress 参加第十一届世界唐氏综合症大会

International Medical Review on Down Syndrome Pub Date : 2012-09-01 DOI: 10.1016/S2171-9748(12)70025-9

K. Trias Trueta

引用次数: 0

Femoral neck stress fractures in a young girl with Down's syndrome 患有唐氏综合症的年轻女孩股骨颈应力性骨折

International Medical Review on Down Syndrome Pub Date : 2012-09-01 DOI: 10.1016/S2171-9748(12)70027-2

M.L. López de Dicastillo Roldán , V.E. Gómez Palacio , J. Gil Albarova , J. Bregante Baquero

引用次数: 0