Turner syndrome OET reading part A-for exam preparation PDF

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Turner syndrome OET reading part A-for exam preparation...

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Turner syndrome

Text A Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two. This chromosome variation happens randomly when the baby is conceived in the womb. It isn't linked to the mother's age. The syndrome can either be described as: •

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classic Turner syndrome – where one of the X chromosomes is completely missing mosaic Turner syndrome – in most cells, one X chromosome is complete and the other is partially missing or abnormal in some way, but in some cells there may be just one X chromosome or, rarely, two complete X chromosomes

Text B Characteristics of Turner syndrome Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome: are shorter than average • have underdeveloped ovaries, resulting in a lack of monthly periods and infertility As height and sexual development are the two main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years. •

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General features • • • • • • • • • •

a particularly short, wide neck (webbed neck) a broad chest and widely spaced nipples arms that turn out slightly at the elbows a low hairline mouth abnormalities, which can cause teeth problems a large number of moles small, spoon-shaped nails a short fourth finger or toe droopy eyelids (ptosis) /a squint (strabismus) low-set ears

Associated conditions Turner syndrome is often associated with a number of other health conditions, including: •

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heart murmur – where the heart makes a whooshing or swishing noise between beats; this is sometimes linked to a narrowing of the main blood vessel in the heart (the aorta) and high blood pressure kidney and urinary tract problems – this can increase the risk of developing urinary tract infections (UTIs) and high blood pressure underactive thyroid gland (hypothyroidism) – this happens in around 10 to 30% of women with Turner syndrome; regular blood tests are needed to detect it early before it causes symptoms brittle bones (osteoporosis) – in adult life, this may develop if oestrogen isn't adequately replaced by HRT abnormal curvature of the spine (scoliosis) 2

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diabetes – a lifelong condition that causes a person's blood sugar level to become too high obesity – this increases the risk of type 2 diabetes and stroke, and can be reversed by following a healthy diet and taking regular exercise Lymphoedema – this can occur at any age, not just in new born babies bleeding in the digestive system – caused by abnormalities in the blood vessels in the intestines other digestive conditions – such as Crohn's disease and ulcerative colitis are more common in females with Turner syndrome .

Spatial awareness and numeracy Spatial awareness is the ability to understand where you are in relation to objects or other people. More than 8 out of 10 females with Turner syndrome have difficulty understanding spatial relationships. Attention and hyperactivity problems Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical over activity, such as constant fidgeting and restlessness • acting impulsively, such as breaking rules or having no sense of danger • having a short attention span and being easily distracted Attention and hyperactivity problems usually begin when the girl is a toddler but may not be a serious problem until •

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the girl starts school at 4 or 5. Girls with Turner syndrome may have difficulty settling in class.

Text C Diagnosis Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis. Pregnancy and birth Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, heart or kidney abnormalities are detected. Lymphoedema, a condition that causes swelling in the body's tissues, can affect unborn babies with Turner syndrome, and may be visible on an ultrasound scan. Turner syndrome is sometimes diagnosed at birth as the result of heart problems, kidney problems or lymphoedema. Childhood In some cases, a diagnosis isn't made until puberty when breasts don't develop or monthly periods don't start. Girls with Turner syndrome are typically short in relation to the height of their parents. But an affected girl who has tall parents may be taller than some of her peers and is less likely to be identified based on her poor growth. Karyotyping Karyotyping is a test that involves analysing the 23 pairs of chromosomes. It's often used when Turner syndrome is suspected. The test can either be carried out while the baby is inside the womb – by taking a sample of amniotic fluid (amniocentesis) – or after birth by taking a sample of the baby's blood.

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Treatment There's no cure for Turner syndrome but many of the associated symptoms can be treated. Health checks Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. If a girl or woman is diagnosed with Turner syndrome, the following areas may be monitored throughout her life. Blood pressure

High blood pressure (hypertension) is quite common in women with Turner syndrome, so it's important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems.

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Women with Turner syndrome have an increased risk of developing brittle bones mineral (osteoporosis) in late adulthood. Bone mineral density can be measured at regular density intervals using a dual-energy X-ray absorptiometry (DEXA) scan to assess any change with time. Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they’re Growth not growing normally. It will help make them hormone taller in adulthood. Growth hormone therapy therapy is a daily injection, started at around 5 or 6 years of age or later. It’s usually continued until 15 or 16, helping the girl gain on average around 5cm (about 2in) in height. The National Institute for Health and Somatropin Care Excellence (NICE) has produced guidance about somatropin, the growth hormone sometimes used to treat Turner syndrome. Studies reviewed by NICE found somatropin increased height by around 5 to 9cm (2 to 3.5in). Somatropin is usually given daily as a single injection. Parents can give the injection or the girl can be taught to do it herself. The dose will depend on the girl’s size. Bone

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Oestrogen and progesterone replacement therapy

Fertility

Psychological therapy

Oestrogen and progesterone replacemen therapy may also be recommended Oestrogen and progesterone are the female hormones responsible for sexua development. Oestrogen also helps prevent brittle bones (osteoporosis). Women with Turner syndrome usually need regular sex hormone treatment unti they're about 50. After this time, the body usually stops producing oestrogen and monthly periods stop. This is called the menopause. Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally so girls and women with Turner syndrome should have access to sexual health and contraception advice. Assisted conception techniques, such as egg donation and in vitro fertilisation (IVF), may be recommended for women with Turner syndrome who want to have children. Some girls and women with Turner syndrome may develop psychologica problems, such as low self-esteem or depression. Psychological therapy, such as counselling or cognitive behavioura therapy (CBT), may be recommended.

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Learning difficulties

Most girls with Turner syndrome have a normal level of intelligence, but some may require extra support.

Text D Complications Turner syndrome can affect the proper development of several body systems, but varies greatly among individuals with the syndrome. Complications that can occur include: Heart problems- Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body. High blood pressure-Women with Turner syndrome have an increased risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels. Hearing loss-Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss. 8

Vision problems- Girls with Turner syndrome have an increased risk of weak muscle control of eye movements (strabismus), near-sightedness and other vision problems. Kidney problems - Girls with Turner syndrome may have some malformation of the kidneys. Although these abnormalities generally don’t cause medical problems, they may increase the risk of high blood pressure and urinary tract infections. Autoimmune disorders - Girls and women with Turner syndrome have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto’s thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal problems- Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis). Learning disabilities- Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly 9

with learning that involves spatial concepts, math, memory and attention. Mental health issues-Girls and women with Turner syndrome may have difficulties functioning well in social situations and have an increased risk of attentiondeficit/hyperactivity disorder (ADHD). Infertility - Most women with Turner syndrome are infertile. However, a very small number of women may become pregnant spontaneously, and some can become pregnant with fertility treatment. Pregnancy complications - Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a cardiologist before pregnancy

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Time: 15 minutes • Look at the four texts, A-D, in the separate Text Booklet. • For each question,1-20,look through the texts, A-D, to find in this Question Paper • Answer all the questions within the 15 Minute time limit • Your answers should be correctly spelt.

Turners syndrome :Questions Questions 1-7 For each question, 1-7, decide which text (A,B,C or D) the Information comes from. You may use any letter more than once. In which text can you can find information about.

1. Turner syndrome may be visible on USG 2. This happens in around 10 to 30% of women 3. Mosaic Turner syndrome 4. Have access to sexual health and contraception advice 5. Number of women may become pregnant spontaneously 6. Affects about 1 in every 2,000 baby girls 7. Heart defects often include problems with the aorta

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Questions 8- 14 Answer the questions,8-14,with a word or short phrase from one of the texts. Each answer may include words, numbers or both. 8. Which is an autoimmune condition characterised with gluten intolerance, occurs in women with Turner syndrome - - - - - - - - - - - - - - - -? 9. What is NICE - - - - - - - - - - - - - - - - - - - - - - - - -? 10. Which hormone has a role to prevent weakening of bone in girls - - - - - - - - - - - - - - - - - - - -?

11. What is a congenital deformity , particularly short and wide neck termed - - - - - - - - - - - - - - -?

12. Which is an analytical method to identify or evaluate the abnormal chromosome in the body - - - - - - - - - - - - - - -? 13. What all are the complications may be presented in women with Turner syndrome during pregnancy - - - - -? 14. What is known as, where one of the X chromosomes is fully missing - - - - - - - - - - - - - - - - -? 12

Questions 15-20 Complete each of the sentences, 15-20, with a word or short phrase from one of the texts. Each answer may include words, numbers or both. 15. Girls and women with Turner syndrome usually have - - - - - - - - - - - - - - - - - - - - - ;however, there is increased risk of - - - - - - - - - - - - - - - - - -? 16. ---------------------------- is the ability to understand where you are in relation to objects or other people? 17. A girl with Turner syndrome only has - - - - - - - - - - - - - , rather than the - - - - - - - - - - - - - -? 18. ------------------------and - - - - - - - - - - - - - - - - - - - - - - are more common digestive problems seen in females with Turner syndrome? 19. ------------------and - - - - - - - - - - - - - - are the two main things affected, Turner syndrome may not be diagnosed until puberty? 20. ----------------------------is a daily injection, started at around 5 or 6 years of age or later? End of Part A Proceed to Part B & C 13...