Author:
de Gonzalo-Calvo David,Barroeta Isabel,Nan Madalina Nicoleta,Rives José,Garzón Diana,Carmona-Iragui María,Benejam Bessy,Videla Laura,Fernández Susana,Altuna Miren,Valldeneu Sílvia,Blesa Rafael,Lleó Alberto,Blanco-Vaca Francisco,Fortea Juan,Tondo Mireia
Abstract
AbstractDown syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born infants. In addition to intellectual disability, individuals with DS have other comorbidities and complex medical conditions. The increase in the life expectancy of patients with DS requires expanding the knowledge about their clinical characteristics and related laboratory parameters. Several studies exploring laboratory tests in DS patients exist, but their focus is limited to specific areas of metabolism. Therefore, our main goal was to describe the biochemical and hematological findings in a DS cohort and to compare the values to those of a control population. A total of 248 DS individuals and 84 control subjects were enrolled. DS individuals had a higher frequency of several clinical conditions compared to control individuals and presented with significant differences with respect to the controls in both biochemical and hematological parameters. We found age- and sex-related differences in several of the parameters. A good understanding of the differences in our cohort might be of aid in the clinical follow-up of adults with DS, especially considering that the lifespan of DS individuals may reach 60 years of age in developed countries.
Funder
Fondo de Investigaciones Sanitarias
CIBERNED
Fundació la Marató de TV3
Departament de Salut de la Generalitat de Catalunya
CIBERDEM
National Institute of Health
Generalitat de Catalunya
Publisher
Springer Science and Business Media LLC
Cited by
3 articles.
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