Hello Noel - I'm so sorry for your loss.
Collected this from the Contact a Family site.......worth a visit maybe to see if other subscribers have had to deal with this problem.
Kind regards
Channon
Edwards syndrome: trisomy 18; 18+ syndrome
Edwards syndrome is a severe chromosome abnormality where the child has an extra chromosome 18 in every cell. A chromosome is a rod-like structure present in the nucleus of all body cells, with the exception of the red blood cells,and which stores genetic information. Normally humans have twenty-three pairs of chromosomes, the unfertilised ova and each sperm carrying a set of twenty-three chromosomes. On fertilisation the chromosomes combine to give a total of forty-six (twenty-three pairs). A normal female has an XX pair and a normal male an XY pair.
There are three types of the syndrome:-
Full form (severe) - in this every cell in the body has three chromosome 18's instead of two.
Mosaic form (less severe) - in this some cells have two chromosome 18's while others have three. The extent and severity of the condition will depend upon the ratio of normal to abnormal cells.
Partial form - in some cases there may be an extra copy of part of chromosome 18. This is referred to as partial trisomy 18. The effects of this may be milder and would require further medical advice.
Children with all their cells affected do not normally survive beyond infancy.T hose affected by the mosaic and partial forms may survive to adulthood. Characteristic features include growth deficiency, low-set and malformed ears, clenched hands, bone abnormalities, hernias, skin mottling, heart defects, feeding and breathing problems in infancy and learning disability.
Inheritance patterns
This is seen as being sporadic. In rare cases a balanced translocation in a parent can give rise to an unbalanced translocation in their child.
Prenatal diagnosis
Chorionic villus sampling at ten to twelve weeks and amniocentesis at sixteen weeks. The 'triple test' will detect approximately fifty per cent of cases. Routine detailed ultrasound scanning at eighteen weeks can detect up to eighty per cent of cases. A suspected diagnosis of Edwards syndrome can only be confirmed by amniocentesis or placental biopsy.
Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated September 2003 by Contact a Family . Approved September 2003 by Professor I Young, Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK.
The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.
Psychological and behavioural characteristics
Surviving children with Edwards' syndrome have marked developmental and motor delays. Their verbal communication is severely impaired, and is limited to a few single words at best; but they are mostly aware of their environment and are able to communicate some of their needs non-verbally. They continue to acquire new skills over time and develop some understanding of language. A few can walk with assistance. Overall, their skills in daily living, receptive language and social interaction tend to be higher than their motor and expressive language abilities.
Children with trisomy 18 mosaicism or partial trisomy 18 tend to be less severely handicapped; they are able to walk, and have moderate or mild learning difficulties or normal intelligence.
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Edited 07-20-2006 08:00 PM
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