If 22q11.2DS is More Common Than You Would Imagine, Why Do We Not Hear About it More Often?
It is thought that the 22q11.2 deletion occurs in approximately 1 in every 2,000 to 4,000 live births.
It is thought to be almost as common as Down syndrome.
Despite this prevalence, many clinicians are still not familiar with the diagnosis – or its variability.
This is an interesting question and probably easiest answered as follows.
In science and medicine, we sometime hear of miracle breakthroughs and state-of-the-art findings. However, for researchers like me (i.e., the majority), the process of research can be slow and take years for the findings to make it fully into the public domain.
Good science takes time – good planning of the research, painstaking field research, lots of careful analyses of the data, far greater care in the interpretation of the data, travel to conferences to share these latest findings with international colleagues to seek feedback, publication of the results in academic journals (sometimes 2 years time lag), a few years for the results to be integrated into the wider literature on the topic, and so on.
So, many findings are slow to emerge into the public domain.
Thus, for 22q11.2DS, there has been a delay between the first identification of 22q11.2DS underlying the other issues and it’s wider acceptance into medical practice.