Evaluation of biochemical and hematological parameters in adults with Down syndrome

David De Gonzalo-Calvo,Rafael Blesa,Diana Garzón,Francisco Blanco-Vaca,Madalina Nicoleta Nan,Isabel Barroeta,Laura Videla,Susana Fernández,Mireia Tondo,Sílvia Valldeneu,Alberto Lleó,José Rives,María Carmona-Iragui,Miren Altuna,Juan Fortea,Bessy Benejam

doi:10.1038/s41598-020-70719-2

Abstract

Down 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.

Highlights

highdensity lipoprotein cholesterol (HDLc) High-density lipoprotein cholesterol low-density lipoprotein cholesterol (LDLc) Low-density lipoprotein cholesterol MCH Mean corpuscular hemoglobin mean corpuscular hemoglobin concentration (MCHC) Mean corpuscular hemoglobin concentration MCV Mean corpuscular volume MDRD-4 Modification of diet in renal disease mean platelet volume (MPV) Mean platelet volume K+ Potassium red blood cell distribution width (RDW) Red blood cell distribution width Na+ Sodium TG Triglycerides thyroid stimulating hormone (TSH) Thyroid stimulating hormone
Despite the shorter life expectancy when compared to healthy subjects and adults with other causes of intellectual disability[4], there has been a progressive increase in the life expectancy of patients with Down syndrome (DS) in recent decades, currently reaching nearly 60 y ears[5]
The present study evaluated several biochemical and hematological parameters in a large sample of adults with DS

Summary

Introduction

HDLc High-density lipoprotein cholesterol LDLc Low-density lipoprotein cholesterol MCH Mean corpuscular hemoglobin MCHC Mean corpuscular hemoglobin concentration MCV Mean corpuscular volume MDRD-4 Modification of diet in renal disease MPV Mean platelet volume K+ Potassium RDW Red blood cell distribution width Na+ Sodium TG Triglycerides TSH Thyroid stimulating hormone. Despite the shorter life expectancy when compared to healthy subjects and adults with other causes of intellectual disability[4], there has been a progressive increase in the life expectancy of patients with DS in recent decades, currently reaching nearly 60 y ears[5]. This fact has increased the need to expand the knowledge about the clinical characteristics of DS individuals and the health problems differentiating them from both pediatric and adult populations[6]. Our goals were to describe the biochemical and hematological findings in our DS cohort and to compare the values to those of a control population

Objectives

Methods

Results

Conclusion