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  • Down’s Syndrome and Genetic Screening

  • Vocabulary

  • Comprehension check

  • Учебное_пособие_КП_профессиональный. Учебное пособие по английскому языку для студентов педагогического колледжа по специальности Коррекционная педагогика в начальном образовании


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    НазваниеУчебное пособие по английскому языку для студентов педагогического колледжа по специальности Коррекционная педагогика в начальном образовании
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    II. Agree or disagree with the following statements.

    1. Autism is a developmental disorder characterized variously by impaired social interaction, difficulties in communicating, problems with seeing and hearing, and repetitive behavior.

    2. Autism is the scientific term for withdrawn and self-preoccupied children.

    3. To be preoccupied means to be very shy and quiet and concerned only about one’s own thoughts.

    4. To be withdrawn means to think about something a lot, with the result that one does not pay attention to other things.

    5. To be indifferent means to be concerned only with yourself and the things that affect you.

    6. To be self-preoccupied means to be not caring about what is happening, especially about other people’s problems or feelings.

    7. To be averse to something means to be unwilling to do something or to dislike something.

    8. Panic is a strong feeling of uncontrollable anger.

    9. Rage is a sudden strong feeling of fear or nervousness [´nɜːvəsnɪs] that makes you unable to think clearly or behave sensibly.

    10. To be hypersensitive means to be too easily hurt or upset by unimportant things.

    III. Rearrange these words to make sensible sentences.

    1. Autism a neurobiological disorder that affects physical, social, and language skills is.

    2. The term “autism” children who appeared to be excessively withdrawn and self-preoccupied was first used to describe.

    3. Autism usually before 2 years of age appears.

    4. Autistic children indifferent or averse to affection and physical contact appear.

    5. Autistic children episodes of rage or may suffer panic.

    6. The speech of autistic children slowly and abnormally or not at develops all.

    7. The speech of autistic children constant repetition of what is said by others may be characterized by.

    8. The replacement of speech by strange mechanical sounds also among autistic children occurs.

    9. Suffering severe learning difficulties, some autistic children an unusually high level of ability in a particular skill may have.

    10. Autism rhythmic body movements such as rocking or hand-clapping is characterized by.

    11. Autism an obsessive desire to prevent change in daily is characterized by routines.

    12. Autistic individuals hypersensitive to high-pitched sounds may be.

    13. Autistic individuals abnormally slow to react to physical may be pain.

    14. Autism more common in males is.

    15. Lack of parental attention once blamed for was autism.

    16. It is now known that autism the result of abnormalities in the brain is structure.

    17. There no effective treatment for autism is.

    IV. Translate the following words and phrases from Russian into English.

    Ненормально; качание; хлопанье в ладоши; навязчивый; заведенный порядок; чрезмерно чувствительный; происходящий после рождения; родительский; ненормальность; умственно неполноценный человек, проявляющий незаурядные способности в какой-либо области; погружённость в свой собственный мир; страдающий аутизмом; нейробиологический; расстройство; замкнутый, ушедший в себя; поглощенный в свои мысли, интересы, эмоции; безразличный, безучастный, равнодушный; питающий отвращение; привязанность; испытывать; ярость; паника.

    V. Complete the following sentences.

    1. Autism is ...

    2. The term “autism” was first used to describe ...

    3. Autism usually appears ...

    4. Autistic children appear indifferent or averse to ...

    5. Autistic children may suffer ...

    6. The speech of autistic children develops ...

    7. The speech of autistic children may be characterized by ...

    8. ... also occurs among autistic children.

    9. Some autistic children may have ...

    10. Autism is characterized by rhythmic body movements such as ...

    11. Autism is characterized by an obsessive desire to ...

    12. Autistic individuals may be hypersensitive to ...

    13. Autistic individuals may be abnormally slow to react to ...

    14. Autism is more common in ...

    15. ... was once blamed for autism.

    16. Autism is the result of ...

    17. There is no effective treatment for ...
    Down’s Syndrome and Genetic Screening
    By the end of this text you should be able to explain how Down’s syndrome arises; discuss the role of a genetic counselor.
    Pre-reading tasks

    I. Try and answer the following questions. Then check your answers by reading the text.

    1. What do you know about Down’s syndrome?

    2. Who and what is the syndrome named after?

    3. What do children with Down’s syndrome look like?

    II. Match the words with their definitions:

    1 disability

    A a fault or a lack of something that means that something is not perfect

    2 disease

    B a small part or amount of something that is examined in order to find out something about the whole

    3 defect

    C to receive money, property etc. from someone after they have died

    4 to prevent

    D the final result of a meeting, discussion, war etc., especially when no one knows what it will be until it actually happens

    5 to inherit

    E to stop something from happening or stop someone from doing something

    6 to observe

    F the act of ending something or the end of something

    7 sample

    G to notice something; to watch something or someone carefully

    8 outcome

    H a physical problem that makes someone unable to use a part of their body properly

    9 termination

    I an illness or unhealthy condition in your body, especially one caused by infection


    III. Read the text and translate it.

    Down’s syndrome is the most common cause of learning disability in children of school age. Children with the syndrome typically have a round, flat face, and eyelids that appear to slant upwards. In addition to some learning disability, they also have an increased risk of infection (particularly respiratory and ear infections), and heart defects occur in about one-quarter of those with the syndrome.

    The syndrome is named after John Langdon Down, a nineteenth century doctor who first described the condition in 1866. In 1959, the French physician Lejeune (Лежен) used chromosome-staining techniques to show that Down’s syndrome is caused by an extra chromosome 21. Having one extra chromosome is known as trisomy, hence Down’s syndrome is also known as trisomy 21. The extra chromosome usually comes from the egg cell due to non-disjunction of chromosome 21.

    In about 3% of cases, Down’s syndrome results from translocation of an extra chromosome 21. A region of the chromosome breaks off and rejoins with either the end of the other chromosome 21 or with another chromosome (commonly chromosome 15). In these cases, a person may have the normal number of chromosomes, but one of the chromosomes will be abnormally long.

    Genetic screening refers to procedures used to examine an individual for the presence of a genetic disease or disorder. Because of the high risk of Down’s syndrome among the babies of older mothers, in mothers over the age of 35 years are offered genetic screening. It is usually carried out at the beginning of pregnancy.

    Until recently, a mother’s age was the only factor available to assess the risk for Down’s syndrome. Now biochemical markers are being discovered for the condition. Tests for these biochemical markers cannot show the presence of a Down’s baby, but they can be used in conjunction with the mother’s age to predict the probable risk of having a baby with Down’s syndrome.

    Genetic counseling

    Genetic screening should be followed by genetic counseling, the giving of advice and information about the risks of a genetic disease and its outcome. Counseling is a very challenging task. Counselors must have a good understanding of medical genetics. Clients should be made aware that the features of Down’s syndrome vary widely. The condition often results in individuals with severe mental disability who require a great deal of support, but many people with Down’s syndrome lead independent, long, and fulfilling lives, and they are often very loving individuals. It should not be assumed that mothers carrying a fetus with Down’s syndrome would automatically opt for termination of pregnancy.
    Vocabulary

    1. Down’s syndrome – [´sɪndrəʊm] – Синдром Дауна

    2. eyelid (n) – веко

    4. to slant upwards (phr.) – [slaːnt ´ʌpwədz] – отклоняться вверх

    5. respiratory and ear infections (phr.) – [rɪ´spɪrətəri ənd ɪə(r) ɪnfekʃənz] – респираторные и ушные инфекции

    6. condition (n) – состояние (здоровья)

    7. chromosome-staining techniques (phr.) – [´krəʊməsəʊm steɪn tek´niːks]– методы окрашивания хромосом

    8. trisomy (n) трисомия

    9. extra chromosome (phr.) – [´ekstrə ´krəʊməsəʊm] – дополнительная хромосома

    10. translocation (n) – перемещение

    11. hence – следовательно, отсюда

    12. egg cell (n) – яйцеклетка

    13. non-disjunction (n) – [nɔn dɪs´dʒʌŋkʃən] – не разъединение, не расчленение

    14. to break off (v) – отрываться, прерываться

    15. to rejoin (v) – присоединить(ся) вновь

    16. be abnormally long – [æb´nɔːməli] – быть ненормально длинным

    17. genetic screening (phr.) – [dʒə´netɪk ´skriːnɪŋ] – генетическое обследование

    18. disorder (n) расстройство

    19. pregnancy – [´preɡnənsi] – беременность

    20. biochemical marker (phr.) – [ˏbaɪəʊ´kemɪkəl ˈmaːkər] – биохимический маркер

    21. in conjunction with (phr.) – [kən´dʒʌŋkʃən] – в сочетании с; совместно

    22. genetic counseling (phr.) – [dʒə´netɪk ´kaʊnsəlɪŋ] – генетическое консультирование

    23. outcome (n) результат, последствия

    24. challenging (adj.) – [´tʃælɪndʒɪŋ] – требующий напряжения, испытывающий

    25. client (n) – [´klaɪənt] – клиент

    26. should be made aware (phr.) – [ə´weə(r)] – следует быть осведомленным

    27. severe mental disability (phr.) – [sɪ´vɪə(r) ´mentl ˏdɪsə´bɪlɪti] – тяжелая умственная отсталость

    28. require a great deal of support (phr.) – [rɪ´kwaɪə(r) ə ɡreɪt diːl əv sə´pɔːt] – требуют большой поддержки

    29. lead independent, long, and fulfilling lives (phr.) – [liːd ɪndɪ´pendənt lɒŋ ənd fʊl´fɪlɪŋ laɪvz] – вести независимую, долгую и полноценную жизнь

    30. to assume (v) – [ə´sjuːm] – допускать, предполагать

    31. fetus (n) – [´fiːtəs] – плод

    32. to opt (v) – делать выбор, выбирать

    33. termination (of pregnancy) (phr.) – [ˏtɜːmɪ´neɪʃən əv ´preɡnənsi] – прерывание беременности
    Comprehension check

    I. Suggest Russian equivalents for the following word combinations.

    Learning disability, genetic screening and genetic counseling, challenging task, great deal of support, risks of a genetic disease, to be caused by an extra chromosome 21, in these cases, to refer to procedures [prə´siːdʒərz], loving individuals.

    II. Find English equivalents for the following word combinations.

    Ушные инфекции, нормальное количество хромосом, до недавнего времени, генетическое заболевание и его исход, широко варьироваться, прогнозировать вероятный риск, матери, вынашивающие плод с синдромом Дауна, французский врач, пороки сердца, обследовать человека.

    III. Fill in the gaps with the words and expressions from the text:

    1. In addition to some learning disability they also have ….

    2. The syndrome is named after John Langdon Down, … who first described the condition in 1866.

    3. Down’s syndrome is caused by ….

    4. Genetic screening is a procedure used to examine….

    5. Because of the high risk of Down’s syndrome among the babies of older mothers, in mothers over the age of 35 years can be offered ….

    6. Genetic counseling is giving of advice and information about ….

    7. It should not be assumed that mothers carrying a fetus with Down’s syndrome would ….

    IV. Answer the following questions. Use all information given before.

    1. Who or what is the syndrome named after?

    2. What do children with Down’s syndrome look like?

    3. What is non-disjunction?

    4. What is Down’s syndrome caused by?

    5. What is a biochemical marker which can help a genetic counselor assess the risk of Down’s syndrome for a client?

    6. What is genetic counseling like?

    V. Read and translate the short text without any dictionary.

    Fact of life:

    Throughout the world, the overall frequency of Down’s syndrome is about three per 2000 births. The risk increases with the age of the mother. For mothers aged 20 years, one in 2000 babies has Down's syndrome; one in 900 for those aged 30 years; one in 100 for those aged 40 years; and one in 40 for those aged 45 years. We can now detect a large range of inherited diseases before birth, one of the most common of which is Down’s syndrome.

    Food for thought:

    Modern genetics is making it much easier to detect genetic disorders and to screen potential parents, fetuses, and babies. Suggest what benefits and problems might be associated with large-scale genetic screening. How do you think society should deal with parents who choose to proceed with a pregnancy likely to bring into the world a child who has a genetic disorder?
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