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Mortality in Down's syndrome in relation to congenital malformations
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences.
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1999 (English)In: Journal of Intellectual Disability Research, ISSN 0964-2633, E-ISSN 1365-2788, Vol. 43, no 3, 234-241 p.Article in journal (Refereed) Published
Abstract [en]

Down's syndrome (DS) is the most common form of intellectual disability. The syndrome is characterized by congenital malformations, especially of the heart and gastrointestinal tract, which can result in high mortality rates in the affected population. Many improvements have been made in the medical treatment of this syndrome during the past few decades and the survival of individuals with DS has increased in the industrial world. The aim of the present study was to investigate mortality in relation to congenital malformations. Medical records from all liveborn children with DS delivered between 1973 and 1980 in northern Sweden were studied, and malformations and causes of death were recorded. Out of the 219 children included in the study, a congenital heart defect was reported in 47.5% of subjects, 42.1% of whom had complete atrioventricular septal defect. Gastrointestinal tract malformations were present in 7.3% of subjects, and was frequently associated with a cardiac malformation and a very high mortality rate. Other major and minor congenital anomalies were present in 5.5% and 5.5% of subjects, respectively. In the 14.5-year follow-up of 213 children, the rate of survival was 75.6%. Mortality rates within one and 10 years after birth were 14.6% and 23.5%, respectively. Mortality within 10 years differed significantly between children with (44.1%) and without (4.5%) a congenital heart defect. A very high mortality rate was observed among children with a congenital heart defect, especially when it was combined with a gastrointestinal malformation.

Place, publisher, year, edition, pages
1999. Vol. 43, no 3, 234-241 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-90072PubMedID: 10392609OAI: oai:DiVA.org:uu-90072DiVA: diva2:162230
Available from: 2002-12-17 Created: 2002-12-17 Last updated: 2015-09-03Bibliographically approved
In thesis
1. Children with Down syndrome -: an epidemiological study with special focus on congenital heart defects
Open this publication in new window or tab >>Children with Down syndrome -: an epidemiological study with special focus on congenital heart defects
2002 (Swedish)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

To assess the impact of congenital malformations in Down syndrome (DS) on morbidity, mortality and outcome at birth, information on all children with DS born in the northern part of Sweden in 1973-80 (n=211) and 1995-98 (n=88) was collected. Most common were congenital heart defects (CHD), dominated by atrioventricular septal defects (AVSD). Up to age 10 years, morbidity and mortality were more than 10 times higher in DS children with CHD than in healthy DS children. The DS children seemed more vulnerable at birth than Swedish children in general: they had increased frequencies of Cesarean sections, premature birth, asphyxia, and low birthweight, and higher proportions of children small for gestational age, regardless of the presence of CHD. Infant mortality decreased from 14.2% to 2.3% between the two periods.

All children with AVSD with and without DS born in Sweden 1973-1997 (n=801) were followed up retrospectively to 2001. Children with isolated AVSD without complex additional CHDs were studied more closely (n=502). A reduction in age at operation and postoperative mortality (from 28 to 1%) was observed. No significant difference in 5-year postoperative mortality between genders or between DS and non-DS children was found. The 5-year postoperative mortality in DS decreased from 35% in 1973-77 to about 10% in 1993-97.

CHD had a major influence on morbidity, infectionrate and mortality in DS, but not on DS birth variables. The formerly high mortality in CHD is now reduced. In isolated AVSD measures seem equally successful in DS and non-DS children. Mortality is still 3 times higher in DS children with isolated AVSD than in healthy DS children.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2002. 62 p.
Series
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1218
Keyword
Pediatrics, Down syndrome, congenital malformations, mortality, morbidity, neonatal data, congenital heart defect, atrioventricular septal defect, operation, gender, Pediatrik
National Category
Pediatrics
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-3142 (URN)91-554-5496-8 (ISBN)
Public defence
2003-01-31, Rudbeckssalen, Rudbecks Laboratoriet, Uppsala, 09:15
Opponent
Available from: 2002-12-17 Created: 2002-12-17Bibliographically approved

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