BELLA

1. BELLA Down's syndrome (also known as Down syndrome) is a genetic condition known as trisomy

2. Chromosomes • http://news.bbc.co.uk/hi/english/static/in_depth/sci_tech/2000/human_genome/stage_6.stm

3. So how did Bella come to have Downs Syndrome? • At the time of conception a baby will normally inherit genetic information from the parents - 23 from the mother and 23 from the father = 46 chromosomes. • Down syndrome the baby has an extra chromosome for a total of 47 chromosomes instead of 46. • This additional genetic material changes the finely tuned balance of the body and results in characteristic physical and intellectual features. http://kidshealth.org/parent/medical/genetic/down_syndrome.html

4. There are three types of Down's syndrome: • Regular trisomy 21 - all the cells have an extra chromosome 21. Around 94 per cent of people with Down's syndrome have this type. • Translocation - the extra chromosome 21 material is attached to another chromosome and one of the parents may carry the translocated chromosome without any signs of the condition themselves. This accounts for around 4 per cent of cases. • Mosaic - only some of the cells have an extra chromosome 21. Around two per cent of people with Down's have this type, which tends to result in milder features.

5. It's not known why this abnormality occurs, but it affects around one in 1,000 babies born in the UK - about 750 babies a year - and is the most common inherited cause of learning disability. • It's not possible to prevent the genetic abnormality that causes Down's syndrome, but in recent years it has become possible to identify more accurately during pregnancy the likely risk that the baby is affected.

6. The tests used depend on the stage of pregnancy at which a woman requests testing, but they all combine blood tests with a special type of ultrasound • This type of ultrasound is similar to a normal ultrasound scan, but measures the space between the spine and the nape of the baby's neck. All babies tend to collect fluid behind the neck but those with Down's syndrome tend to have more fluid than most. Measuring the thickness of fluid or 'nuchal translucency' helps to estimate the risk of Down's syndrome. • Ideally, combined testing is done during the first trimester of pregnancy. Blood is taken from the mother at between 10 and 14 weeks to check for levels of certain proteins and hormones.

7. Q&A: True of False ? Downs syndrome is due to having 23 chromosomes from the mom and 22 from the dad? 2. You can have tests to see if the baby has DS whilst it is still in the womb 3. There is a cure for DS – by injecting the foetus with protein? 4. There are 3 types of DS? 5. During the test you will have a scan where they measure the size of the spine?

8. Scenario; • You are an investigative reporter for a charity that is producing a documentary on the life of a young lady with Downs Syndrome called Bella. You have spent many years following Bella as she grows and develops and researching her medical notes, interviewing family /friends etc. Your editor has asked you to compile a report on her life in preparation of filming

9. Task 1 • The Human Lifespan • Produce a report which will • • Describe the recognised pattern of human growth and development • • Discuss the nature – nurture debate in relation to Bella’s overall development • • Evaluate how nature – nurture may affect Bella’s overall development at 2 stages of her life • This provides evidence for P1, M1, D1