A patient can be confirmed as having KS through a genetic test via microarray analysis, FISH analysis, exome sequencing or whole genome sequencing.
But what are the first signs that a baby or child might have KS?
In a study of 14 babies by Unique, five seemed fine at birth but concern grew later about their development: they failed to track visually, they failed to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests. In nine babies, there were signs immediately after birth of something wrong, varying from a weak cry, unusual facial features (twice thought to suggest Down’s syndrome), a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts, seizures and feeding difficulties. Early feeding difficulties are common and so is silent reflux – where milk returns from the stomach up the food passage, however, most babies with feeding difficulties only need help (tube feeding) for a short time. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with KS, this may not be obvious: in four babies, no floppiness was observed.
Apart from these common difficulties of newborns, most babies with the KS have reasonable Apgar scores (a measure of well-being at birth, scored from 0-10) and are quite well after birth and are able to go home after delivery at the normal time.
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