Down Syndrome: Let's Work Together to End the Stereotypes

Abstract

Each year, we observe the 21st day of March as our World Down Syndrome Day. The goal is to raise public awareness of Down syndrome (DS) and encourage all member states, relevant organizations of the UN system, all member states, other international organizations, non-governmental organizations, and the private sector to join this effort. The epidemiology of DS is complex. The incidence of DS is estimated to be somewhere between 1 in 1,000 and 1 in 1,200 live births worldwide, but there may well be some temporal, racial/ethnic, and geographical variability in the prevalence of DS. Most infants with DS have an extra copy of chromosome 21, which occurs due to the failure of chromosome 21 to separate during gametogenesis. However, a minority with the same phenotype may have a Robertsonian translocation, an isochromosome, or a ring chromosome. Increasing information suggests that many of the most frequently seen phenotypic features may be rooted in sequential variability in only one band, the 21q22. The characteristic facial appearance, cardiac anomalies such as the endocardial cushion defect, neurodevelopmental delay, and many dermatoglyphic changes could result from a small region including the genes for superoxide dismutase in the region 21q22.1, the amyloid precursor protein mapping in 21q11.2-21.05, and six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. Speaking from this medical perspective, we need to understand the pathophysiology of DS to meet their healthcare needs. If we could do so, we could make a small change in this world.