Sindrome De Down

Eur J Pediatr (2010) 169:1445–1452
DOI 10.1007/s00431-010-1253-0

REVIEW

Clinical practice
The care of children with Down syndrome
Michel E. Weijerman & J. Peter de Winter

Received: 3 June 2010 / Accepted: 29 June 2010 / Published online: 15 July 2010
# The Author(s) 2010. This article is published with open access at Springerlink.com

Abstract Down syndrome (DS) is one of the mostcommon chromosomal abnormalities. Because of medical
advances and improvements in overall medical care, the
median survival of individuals with DS has increased
considerably. This longer life expectancy requires giving
the necessary care to the individual with DS over their total
longer lifespan. DS medical guidelines are designed for the
optimal care of the child in whom a diagnosis of DShas
been confirmed. We present an overview of the most
important issues related to children with DS based on the
most relevant literature currently available.
Keywords Down syndrome . Children . Guideline . Care .
Trisomy 21 . Congenital abnormalities
Abbreviations
DS
Down syndrome
OSAS
Obstructive sleep apnea syndrome
AAI
Atlanto-axial instability
RSV
Respiratory syncytial virusUTA
Urinary tract anomalies
AD
Atopic dermatitis
anti-tTG Anti-tissue transglutaminase antibodies
HLA
Human leukocyte antibodies

M. E. Weijerman (*)
Department of Pediatrics,
VU University Medical Center,
P.O. Box 7057, 1007 MB Amsterdam,
The Netherlands
e-mail: weijerman@vumc.nl
J. P. de Winter
Department of Pediatrics, Spaarne Hospital,
Hoofddorp, The Netherlands

IntroductionDown syndrome (DS) is the most common chromosomal
malformation in newborns. In Europe, DS accounts for 8%
of all registered cases of congenital anomalies. Throughout
the world, the overall prevalence of DS is 10 per 10,000
live births, although in recent years this figure has been
increasing. To a large extent, the prevalence of DS depends
on several socio-cultural variables. In countrieswhere
abortion is illegal such as Ireland and the United Arab
Emirates, its prevalence is higher. Conversely, in France,
DS prevalence is low, and this is probably due to a high
percentage of DS pregnancy terminations [6, 21, 33]. In
The Netherlands, the most recent measure of DS prevalence
was 16 per 10,000 live births [33]. In the United Kingdom,
the prevalence of pregnancies affected by DShas increased
significantly, but there has been no overall change in the
live birth prevalence of DS. Increasing maternal age and
improved survival rates for infants with Down syndrome
have outweighed the effects of prenatal diagnosis followed
by the termination of pregnancy and a declining general
birth rate [6, 14, 24, 33, 36].
DS is characterized by several dysmorphic features anddelayed psychomotor development. Children with DS also
have an increased risk of concomitant congenital defects
and organic disorders such as congenital heart and
gastrointestinal defects, celiac disease and hypothyroidism
[21]. The median age at death of individuals with DS has
risen significantly in the US, from 25 years in 1983 to
49 years in 1997. Congenital heart defects (CHD) andrespiratory infections are the most frequently reported
medical disorders on death certificates for individuals with
DS [38]. Standardized mortality odds ratios (SMORs) in
DS were low for malignancies except for leukaemia and
testicular cancer, which were seen more often in individuals

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with DS [21, 39]. Recent decades have seen a substantial
increasein the life expectancy of children with DS. In The
Netherlands, the infant mortality rate in children with DS
dropped from 7.07% in 1992 to 4% in 2003 (this is in
contrast with the 0.48% infant mortality of the reference
population in The Netherlands in 2003) [33]. The fall in DS
mortality was mainly related to the successful early surgical
treatment of CHD and to the improved treatment of...