Clinical practice

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Abstract

Down syndrome (DS) is one of the most common 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 DS has been confirmed. We present an overview of the most important issues related to children with DS based on the most relevant literature currently available.

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Down's syndrome

Nancy Roizen, David Patterson (2003)

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world.

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Down syndrome—recent progress and future prospects

Frances Wiseman, Kate A. Alford, Victor L.J. Tybulewicz … (2009)

Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable extent; understanding the cause of this variation is a key challenge. Here, we review recent research progress in DS, both in patients and relevant animal models. In particular, we highlight exciting advances in therapy to improve cognitive function in people with DS and the significant developments in understanding the gene content of Hsa21. Moreover, we discuss future research directions in light of new technologies. In particular, the use of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotype–phenotype relationships in patients are likely to significantly contribute to the future understanding of DS.

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Down syndrome: a novel risk factor for respiratory syncytial virus bronchiolitis--a prospective birth-cohort study.

Reinoud J. B. J. Gemke, Beatrijs Bloemers, Louis Bont … (2007)

Respiratory syncytial virus is the single-most important cause of lower respiratory tract infections in children. Preterm birth and congenital heart disease are known risk factors for severe respiratory syncytial virus infections. Although Down syndrome is associated with a high risk of respiratory tract infections, little is known about the incidence of respiratory syncytial virus infections in this group. The aim of our study was to determine the incidence of respiratory syncytial virus lower respiratory tract infection-associated hospitalization among children with Down syndrome. We performed a retrospective observational study and a prospective nationwide birth-cohort study of children with Down syndrome. The retrospective cohort comprised 176 children with Down syndrome. A birth cohort of 219 children with Down syndrome was prospectively followed until 2 years of age. All 276 siblings of the birth cohort were used as controls. Of the 395 patients with Down syndrome, 180 (45.6%) had a known risk factor for severe respiratory syncytial virus infections; 39 (9.9%) of these were hospitalized for respiratory syncytial virus lower respiratory tract infections. Two control children (0.7%) versus 9 term children with Down syndrome without congenital heart disease (7.6%) were hospitalized for respiratory syncytial virus lower respiratory tract infections. The median duration of hospitalization was 10 days; mechanical ventilation was required for 5 children (12.8%). This is the first study, to our knowledge, to demonstrate that Down syndrome is a novel independent risk factor for severe respiratory syncytial virus lower respiratory tract infections. These findings should prompt studies to investigate possible mechanisms that underlie severe respiratory syncytial virus lower respiratory tract infections in children with Down syndrome. The effect of respiratory syncytial virus prophylaxis in this specific population needs to be established.

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Author and article information

Contributors

: +31-20-4443319 , +31-20-4440849 , weijerman@vumc.nl

Journal

Journal ID (nlm-ta): Eur J Pediatr

Title: European Journal of Pediatrics

Publisher: Springer-Verlag (Berlin/Heidelberg )

ISSN (Print): 0340-6199

ISSN (Electronic): 1432-1076

Publication date (Electronic): 15 July 2010

Publication date PMC-release: 15 July 2010

Publication date (Print): December 2010

Volume: 169

Issue: 12

Pages: 1445-1452

Affiliations

[1 ]Department of Pediatrics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands

[2 ]Department of Pediatrics, Spaarne Hospital, Hoofddorp, The Netherlands

Article

Publisher ID: 1253

DOI: 10.1007/s00431-010-1253-0

PMC ID: 2962780

PubMed ID: 20632187

SO-VID: 9fcbd5fd-874c-42c5-982d-b271dfae3207

History

Date received : 3 June 2010

Date accepted : 29 June 2010

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ScienceOpen disciplines: Pediatrics

Keywords: down syndrome,children,care,guideline,congenital abnormalities,trisomy 21

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ScienceOpen disciplines: Pediatrics

Keywords: down syndrome, children, care, guideline, congenital abnormalities, trisomy 21

Clinical practice : The care of children with Down syndrome

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Chinese Journal of General Practice

Most cited references 36

Down's syndrome

Down syndrome—recent progress and future prospects

Down syndrome: a novel risk factor for respiratory syncytial virus bronchiolitis--a prospective birth-cohort study.

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