Willi syndrome

November 12, 2012

Willi syndrome

Prader-wili syndrome is a genetic condition and is a suitable candidate for genetic testing using a simple blood test during pregnancy. The genetic changes in this condition occur randomly – there is usually no family history. The prader-willi syndrome patient will missing genetic material from chromosome 15 – most will be missing the part from the paternal chromosome but some could have two copies of the maternal chromosome. This missing element then causes disruption in the area of the brain responsible for appetite control.

Clearly since this is a genetic condition there is no cure. The most that can be done is to offer support and advice and for parents especially to keep careful watch and control on the eating habits of their child with this condition for although that child will appear to be incessantly starving and looking for food – sometimes going to great lengths to find anything to eat when in fact they require less calories than normal children. Some recent research has shown the use of growth hormones may be beneficial and the use of hormones to encourage correct genital formation is also part of the treatment.

Prader-willi syndrome is a condition that when present is often visible at birth. Babies will present with small hands and feet, appear to be floppy with little muscle tone, have difficulty when feeding due to inability to suckle and be of low birth weight. The inability of the infant to suckle and its low birth weight may mean that he or she needs to have a feeding tube inserted. These babies may also have some facial traits distinctive of the condition – for example a small mouth or almond shaped eyes. The skin may also appear to be banded or striped with discoloration. Infants with prader-willi syndrome are likely to have poor co-ordination and motor skills, which will be slow to improve even with age; they may also be late learners when becoming mobile. An unusual symptom of this condition is an unhealthy, obsessive interest in food -this may begin to exhibit itself at around 6 months of age and may lead to rapid weight gain leading to morbid obesity and the resulting problems of that condition. Other problems associated with prader-willi syndrome may include: – behavioral problems, lack of height, underdeveloped genitals, learning difficulties. Tests in older children may show low oxygen levels and increased carbon dioxide levels and of course if obesity is present then there may well also be glucose intolerance and abnormal insulin levels.

As well as an obsession with food sufferers of prader-willisyndrome may also exhibit other obsessive and compulsive behaviour. They may develop repetitive habits such as skin picking, or pulling out their hair, they may hoard their belongings. Generally speaking these patients dislike any changes in their routine, they may fly into seemingly irrational rages and show aggression to those around. As with most disorders those with the prader-wili syndrome will have varying degrees of all or some of these symptoms. There has been some discussion as to whether prader-willi syndrome sufferers will always have blonde hair and blue eyes – since this coloring combination does seem to be more prevalent amongst the group.

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