Something very unusual appears to be happening related to the birth of some babies with MECP2 Duplication Syndrome. Some mothers report that there babies with MECP2 Duplication Syndrome were premature, but a number of others say that their child was born full-term on or near the expected due date but that a pediatrician or neonatologist who examined their baby right after birth told them that they were mistaken and physical examination made it certain that their babies were premature.
This was our experience when our son Dave was born 22 years ago. He arrived pretty much when expected. My wife identified her pregnancy early on, she saw her doctor and the pregnancy was confirmed. So based on when her pregnancy was confirmed, Dave could not have arrived more than 10 days early. The pediatrician who examined him, however, insisted that he had to be at least 6 weeks early based on a physical examination:
Here is what the Doctor found: (1) low muscle tone, (2) the cartilage in his ears was not fully formed, (3) his breast tissue was not fully formed, (4) his gums were not fully formed and it looked like some teeth could be seen through his gums, (5) there were few creases on the soles of his feet. We were told his physical exam score indicated that he was about 33 or 34 weeks gestation, and that anything else was impossible.
Since then, we have heard very similar stories from some of the otehr families who have children with MECP2 Duplication. So, we are not the only ones who had this experience. But if this is true and it can be verified by research, DOES IT REALLY MATTER?
I think it might for at least two reasons:
First, if confirmed this is very unusual. IUGR, Intrauterine Growth Restriction (or Intra-Uterine Growth Retardation), is a well known phenomena. Babies who experience it are small for gestational age. They typically are below typically expected weight and length at full-time birth, but their features are fully developed. This makes it easy to tell the difference between an IUGR baby and a premature baby. That is why doctor simple would not consider that our son was full-term. So, if this is a fairly common finding among babies with MECP2 Duplication Syndrome and extremely rare among others, it could be a valuable sign to help recognize children with MECP2 Duplication Syndrome earlier in life.
Second, if confirmed it may provide some valuable clues into the mechanisms of MECP2 Duplication early in life. Interestingly, some researchers have already suggested that when typical IUGR occurs, it affects the regulation of MECP2, which in turn affects the development of the lungs. The apparent pseudo-prematurity being reported among infants with MECP2 Duplication Syndrome may help better understand the role of MECP2 in prenatal development.
This might be an area of study that could be moved forward quickly in MECP2 Duplication Mice. It would be great to see this on someone’s research agenda.