Anomalies in Down syndrome individuals in a large population-based registry

Torfs, Claudine P.; Christianson, Roberta E.

doi:10.1002/(sici)1096-8628(19980605)77:5<431::aid-ajmg15>3.0.co;2-j

Cited by 207 publications

(98 citation statements)

References 36 publications

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“…Trisomy of the Hsa21 microRNA hsa-miR-155 contributes to this [48]. Hsa-miR-155 is proposed to specifically target one allele of the type-1 angiotensin II receptor (AGTR1) gene, resulting in it’s under- expression, which contribute to a reduced risk of hypertension.…”

Section: Reviewmentioning

confidence: 99%

“Down syndrome: an insight of the disease”

et al. 2015

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Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer’s disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article. Moreover, we have also reviewed various prenatal diagnostic method from karyotyping to rapid molecular methods - MLPA, FISH, QF-PCR, PSQ, NGS and noninvasive prenatal diagnosis in detail.

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Section: Reviewmentioning

confidence: 99%

“Down syndrome: an insight of the disease”

et al. 2015

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“…Down syndrome (DS) affects more than one in 1000 live births in the United States (US), with high rates of neonatal comorbidities and hospital use and related costs in the first years of life in comparison to children without DS (Boulet, Molinari, Grosse, Honein, & Correa, 2008; Centers for Disease Control and Prevention, 2007; Cleves et al, 2007; Rasmussen, Whitehead, Collier, & Frías, 2008; So et al, 2007; Torfs & Christianson, 1998). Documented improvements in survival for children with DS (Centers for Disease Control and Prevention, 2001; Rasmussen, Wong, Correa, Gambrell, & Friedman, 2006; Yang, Rasmussen, & Friedman, 2002) mean that the number of children growing up with DS is increasing as are the need and demand for specialized health services for people with DS.…”

Section: Introductionmentioning

confidence: 99%

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome

Derrington¹,

Kotelchuck²,

Plummer³

et al. 2013

Research in Developmental Disabilities

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Children with Down syndrome (DS) use hospital services more often than children without DS, but data on racial/ethnic variations are limited. This study generated population-based estimates of hospital use and cost to 3 years of age by race/ethnicity among children with DS in Massachusetts using birth certificates linked to birth defects registry and hospital discharge data from 1999 to 2004. Hospital use (≥1 post-birth hospitalization and median days hospitalized birth and post-birth) and reasons for hospitalization were compared across maternal race/ethnicity using relative risk (RR) and Wilcoxon rank sums tests, as appropriate. Costs were calculated in 2011 United States dollars. Greater hospital use was observed among children with DS with Hispanic vs. Non-Hispanic White (NHW) mothers (post-birth hospitalization: RR 1.4; median days hospitalized: 20.0 vs. 11.0, respectively). Children with DS and congenital heart defects of Non-Hispanic Black (NHB) mothers had significantly greater median days hospitalized than their NHW counterparts (24.0 vs. 16.0, respectively). Respiratory diagnoses were listed more often among children with Hispanic vs. NHW mothers (50.0% vs. 29.1%, respectively), and NHBs had more cardiac diagnoses (34.1% vs. 21.5%, respectively). The mean total hospital cost was nine times higher among children with DS ($40,075) than among children without DS ($4053), and total costs attributable to DS were almost $18 million. Median costs were $22,781 for Hispanics, $18,495 for NHBs, and $13,947 for NHWs. Public health interventions should address the higher rates of hospital use and hospitalizations for respiratory and cardiac diseases among racial/ethnic minority children with DS in Massachusetts.

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“…While the association between Down syndrome and AVSDs is well recognized and the characteristics of infants with Down syndrome and AVSDs have been described [Ferencz et al, 1997;Torfs and Christianson, 1998;Marino and Digilio, 2000;Freeman et al, 2008], characteristics of infants with AVSDs who do not have Down syndrome have been less well described.…”

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confidence: 99%

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005

Hartman

Riehle‐Colarusso

Lin

et al. 2011

American J of Med Genetics Pt A

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Nonsyndromic atrioventricular septal defects (AVSDs) are serious congenital heart defects for which information on prevalence and descriptive characteristics based on large, geographically, and ethnically diverse populations has been limited. To describe the birth prevalence and phenotype of nonsyndromic AVSDs, we used data from the National Birth Defects Prevention Study (NBDPS), a multisite, population-based case-control study aimed at identifying genetic and environmental risk factors for birth defects. For this analysis, infants born during the period 1997-2005 and meeting the NBDPS case definition for AVSDs were included. Infants with an AVSD associated with recognized or strongly suspected chromosomal abnormalities or single-gene disorders (syndromic case infants) were excluded. We identified 302 infants with a nonsyndromic AVSD for a birth prevalence of 0.83/10,000 livebirths. Over 20% of infants with an AVSD had an additional major birth defect, with gastrointestinal, renal or urinary, and central nervous system defects being the most common. A lower prevalence of AVSDs was seen among infants born to Hispanic mothers compared with those born to non-Hispanic White mothers [prevalence ratio = 0.63 (95% confidence interval: 0.46-0.86)]. Understanding the prevalence of nonsyndromic AVSDs, demographic factors associated with their occurrence, and associated defects could help guide clinical care, as well as contribute to a better understanding of pathogenesis.

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Anomalies in Down syndrome individuals in a large population-based registry

Cited by 207 publications

References 36 publications

“Down syndrome: an insight of the disease”

“Down syndrome: an insight of the disease”

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005

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