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Frequently Asked Questions and general information about Down's Syndrome. What Is Down's Syndrome? Will our baby have health problems? Chest and sinus problems
What Is Down's Syndrome?
The genetics of Down’s Syndrome There are three types of Down’s syndrome: 1) Standard (Regular or Primary) Trisomy 21About 94% of all people with Down’s syndrome fall into this group. This type of Down’s syndrome is always an accident of nature. It can happen to anyone and there is no known reason why it occurs. The parents have normal chromosomes, but the baby has three rather than two chromosomes of the number 21 pair. 2) TranslocationThis type of Down’s syndrome occurs in about 3% of babies with Down’s syndrome. Part of the number 21 chromosomes becomes attached to another chromosome so that both parts of the new large chromosome move together as one. In about half of the people who have Translocation Down’s syndrome, the translocation is a one-off occurrence and does not mean that it will happen again in any future pregnancies. In the other half, however, it occurs because one or other of the parent, though having a normal balanced chromosomal make-up, has one of the number 21’s ‘stuck on’ to another chromosome. In this case the chance of another child with Down’s syndrome being conceived is quite high. Blood tests can be carried out to find out more detailed information. 3) MosaicismThis type of Down’s syndrome is also rare - only about 2-3 % of people with Down’s syndrome fall into this category. In Mosaic Down’s syndrome the cells with the extra 21 chromosome are mixed with other ‘normal’ cells. In other words, only a certain percentage of the cells are affected.
How common is Down's Syndrome? On average two babies with Down's syndrome are born each day, in the UK. For every 1,000 babies born, one will have Down's syndrome. Although the chance of having a baby with Down's syndrome rises with maternal age, the majority of babies are born to younger women, since the overall birth rate is higher in this age group.
What are the characteristics of Down's Syndrome? Down's syndrome is normally suspected soon after the birth, because a doctor, nurse, or sometimes a parent recognises the characteristic features. Chromosome tests are then carried out to confirm the diagnosis. The features which people look for include Eyes that slant upwards and outwards. They often have a fold of skin that runs vertically between the two lids at the inner corner of the eye (the epicanthic fold). A head which is rather flat at the back with a hairline that is low and ill defined at the nape of the neck, often with rather loose skin in this area. A face that appears somewhat flat with a flat nasal bridge. A mouth cavity that is slightly smaller than average, and a tongue that is slightly larger. Thus the child's tongue may protrude, a habit that can be stopped with teaching. Hands that are broad, with short fingers, and a little finger that curves inwards. The palm may have only one crease across it which may be called the transverse palmer or simian crease. A larger than normal gap between the first and second toe. Reduced muscle tone which results in floppiness (hypotonia). This improves spontaneously as the child gets older. A below average weight and length at birth. All babies will not have all of these characteristics. Some babies will even display very few of these characteristics. Most importantly they will be beautiful because they are yours!
Two babies with Down's Syndrome are born every day in the UK. Around one in every 1000 babies born will have Down's Syndrome. There are 60,000 people in the UK with the condition. Although the chance of a baby having Down's Syndrome is higher for older mothers, 85% of babies with Down's Syndrome are born to women under 35. Down's syndrome is caused by the presence of an extra chromosome in a baby's cells It occurs by chance at conception and is irreversible. Down's Syndrome is not a disease. People with Down's Syndrome are not ill and do not 'suffer' from the condition. Down's Syndrome is the most common form of learning difficulty. All people with the Syndrome will have a varying degree of learning difficulty. However, the majority of people with Down's Syndrome will walk and talk and many will read and write, go to ordinary schools and lead fulfilling, semi-independent lives. Today, with the right support, people with Down's Syndrome can enjoy a life of sixty years plus!
Babies and young children with Down’s syndrome tend to be prone to chest and sinus infections but, thanks to better medical knowledge and care, such infections are no longer as serious as they used to be.
Some babies with Down’s syndrome seem to lack the strength and determination to feed in the early days. Some babies struggle with co-ordination of sucking, swallowing breathing all at the same time. It is possible to breast feed a baby with Down's syndrome, you may need a little bit more patience and may have to express your milk to keep your supply going.If you chose to bottle feed your baby there are now specially adapted teats to help with feeding. Feeding can be very slow so please do be patient.
The body’s heat-regulating mechanism does not always work well in early life. It is therefore important that the baby’s bedroom is not cold (18°C is ideal), and there are no draughts. Overheating can be hazardous for all babies, however, and it is important that they do not get too hot through over-wrapping when indoors. Humidifying the air will help your baby to breathe more freely, too.
Sometimes babies with Down's syndrome can suffer with dry skin and eczema
Babies with Down's syndrome may be more prone to tongue thrust. Usually exercises need to be done to encourage them to keep their tongue in to help them with their speech and language skills.
About one in three children born with Down’s syndrome has a heart defect. Some heart defects are quite minor, such as heart murmurs; some defects are severe, requiring medication and/or surgery.
What orthopedic problems can occur? Children with Down syndrome experience a wide range of orthopedic problems due to their loose ligaments and hypotonia. These problems include scoliosis (side-to-side curvature of the spine), joint dislocation, hip and knee cap instability, weak ankles, and problems with the feet including pronation and flat feet. Some of these conditions may not produce any symptoms while others may require surgery depending on the severity. As many as 20% of all children with Down syndrome may have a weakness or instability in the spinal column in the neck. This is a condition called atlanto-axial instability. This condition, if not diagnosed, can lead to spinal cord damage which can lead to paralysis or death. It is important that children with Down syndrome be screened for this.
What problems with vision and hearing can occur? Close to 70 percent of children with Down syndrome will have some type of vision problem. These problems include farsightedness, nearsightednes, strabismus (crossed eyes), amblyopia (lazy eye), astigmatism, cataracts, and blocked tear ducts. All of these problems can be treated if detected early. All children, not just children with Down syndrome, should have their eyes tested. Some studies suggest that as many as 60 percent of children with Down syndrome experience some type of hearing loss. The development of speech depends on hearing so it is important that children be tested to determine if they are experiencing hearing problems. Hearing loss can be treated with antibiotics to treat infections, eustachian tubes (implanted in a minor surgical procedure) to remove fluid from the inner ear, or, if necessary, hearing aids. With early detection, children with Down syndrome should be able to hear normally.
Some children with Down's syndrome can be more prone to having an underactive thyroid gland. Blood tests are done to find out if this is the case.
What gastrointestinal problems can occur? Some children can suffer with disorders such as Hirschsprung's disease ( constipation due to the bowel not functioning properly) or duodenal atresia ( a blockage in the intestines) where surgery is required.
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