Journal ArticleDOI
Congenital heart disease in children with Down’s syndrome: Turkish experience of 13 years
Kemal Nisli,Naci Öner,Sukru Candan,Hülya Kayserili,Turkan Tansel,Emin Tireli,Birsen Karaman,Rukiye Eker Omeroglu,Aygün Dindar,Ümrah Aydoğan,Seher Başaran,Turkan Ertugrul +11 more
TLDR
The first study concerning the frequency and type of CHD observed in Turkish children with DS implied that early screening for CHDs by echocardiography is crucial and correction of AVSDs in paediatric patients with DS should be performed in the first 6 months of life to avoid irreversible haemodynamic consequences of the defect.Abstract:
Background — Down’s syndrome (DS) is the most common chromosomal abnormality due to a trisomy of chromosome 21 commonly associated with congenital heart defects (CHDs). This study aimed to evaluate...read more
Citations
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Journal ArticleDOI
Leisure participation for school-aged children with Down syndrome.
TL;DR: Leisure participation was affected by complex factors both within and external to the child with Down syndrome, and those children with higher functional independence scores in daily tasks were more likely to have two or more friends.
Journal ArticleDOI
Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience?
TL;DR: The distribution of CHDs in Libyan children with DS was similar to what has been reported internationally, but the frequency was not compared with international rates.
Journal ArticleDOI
Metabolic, Immune, Epigenetic, Endocrine and Phenotypic Abnormalities Found in Individuals with Autism Spectrum Disorders, Down Syndrome and Alzheimer Disease May Be Caused by Congenital and/or Acquired Chronic Cerebral Toxoplasmosis.
TL;DR: It was demonstrated that the parasite, aging and dietary restriction have been able to induce DNA breakage, therefore one may suggest that such an epigenetic mechanism play an important role in development of Down syndrome.
Journal ArticleDOI
Down syndrome: Prevalence and distribution of congenital heart disease in Brazil
Beatriz Elizabeth Bagatin Veleda Bermudez,Sandra Lira Medeiros,Mariane Bagatin Bermudez,Iolanda Maria Novadzki,Neiva Magdalena +4 more
TL;DR: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic in southern Brazil was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.
Journal ArticleDOI
Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis.
Tereza Cristina Pinheiro Diogenes,Felipe Alves Mourato,José Luiz de Lima Filho,Sandra da Silva Mattos +3 more
TL;DR: CHD, particularly AVSD, are more common in the female gender of Down’s syndrome patients, particularly atrioventricular septal defects (AVSD), in female patients.
References
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Journal ArticleDOI
Population-based study of congenital heart defects in Down syndrome.
Sallie B. Freeman,Lisa Taft,Kenneth J. Dooley,Katherine Allran,Stephanie L. Sherman,Terry J. Hassold,Muin J. Khoury,Denise Saker +7 more
TL;DR: This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate.
Journal ArticleDOI
Down syndrome congenital heart disease: a narrowed region and a candidate gene.
Gillian M. Barlow,Xiao Ning Chen,Zheng Y. Shi,Gary E. Lyons,David M. Kurnit,Livija Celle,Nancy B. Spinner,Elaine H. Zackai,Mark J. Pettenati,Alexander J. Van Riper,Michael J. Vekemans,Corey H. Mjaatvedt,Julie R. Korenberg +12 more
TL;DR: Human molecular and cardiac data suggest that the presence of three copies of gene(s) from the region is sufficient for the production of subsets of DS-CHD, and DSCAM (Down syndrome cell adhesion molecule) is proposed as a candidate gene.
Journal ArticleDOI
Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome.
Bruno Marino,Ugo Vairo,Antonio Corno,Simonetta Nava,Paolo Guccione,Raffaele Calabrò,Carlo Marcelletti +6 more
TL;DR: In patients with Down syndrome, the complete form of atrioventricular canal was prevalent, with a high frequency of associated Fallot's tetralogy and left-sided anomalies were more common in patients without Down syndrome.
Journal ArticleDOI
The clinical course of cardiac disease in Down's syndrome.
TL;DR: There was 230 patients with heart disease among 369 infants and children with Down's syndrome and the majority exhibited defects of the endocardial cushion variety and approximately one quarte had complete atrioventricular canals (CAVC).
Journal ArticleDOI
Congenital heart disease in Down's syndrome: two year prospective early screening study.
TL;DR: Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed and may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery.