By Urs Eiholzer
During the last years, study into the Prader-Willi syndrome (PWS) and its remedies has improved drastically and new insights have tremendously better the standard of lifetime of these affected. for a few years, Urs Eiholzer has been engaged within the care of youngsters with PWS and their households. He has released various seminal clinical articles and contributions and helps a entire, built-in remedy process, bearing in mind either the organic and the mental facets of the syndrome. This simply comprehensible e-book is particularly suited to non-professionals and provides the medical photo of the syndrome, its genetic reason, cutting-edge study effects and healing procedures as utilized in the author's out-patient health center. The textual content is illustrated with photos and complemented via an abundance of images. This ebook addresses not just the relations of the affected little ones, but in addition those that have touch with them - from the neighbor to the pediatrician.
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Additional info for Prader-willi Syndrome: Coping With the Disease - Living With Those Involved
Therefore, they often do not turn into a suitable delivery position, but lie in the breech position, which can sometimes necessitate a Caesarean section. Hypotonia usually becomes obvious immediately after birth. It is the main symptom of PWS in the first year of life. PWS children sleep a lot and barely move their weak arms and legs. They often have to be woken to feed and are quite likely to fall asleep again while feeding. Hypotonia also affects the ability to suck and swallow and infants cannot suck hard enough to take in sufficient nourishment.
38 and Diagnosis PWS is diagnosed using a DNA test on a blood sample, carried out in a genetic laboratory. Although this so-called ‘methylation’ test is not very expensive, it is extremely delicate and specific. If the test is positive, it is possible to identify the exact nature of the genetic abnormality through complex procedures. If PWS is suspected, in other words if a baby has severe hypotonia or feeding problems, the methylation test should be carried out in the first few weeks if possible.
But so far we have not had to lo ck the fo o d c upb o a rds a n d f r id ge. Adu lt s c au s e t h e m o st problems : s ome f r iends and nei g hb ors si mply c a n not u n derst a n d w hy Ste f a n c a n’t e at bis c u it s b et we en me a ls, for exa mple. We have t r ie d to tel l t hem w hy, but it ma kes no difference. ’ 57 Sy mptoms dren when they exercise. However, they move around much less than healthy children, which is another cause of obesity. Their body composition is therefore different from that of other overweight children, who have above-average fat tissue, but also more muscles to transport their heavy bodies.