Psyc3310 - abnormalities/prenatal

Cards (33)

  • Down syndrome: An extra chromosome causes mild to severe intellectual disability and physical abnormalities

    Treatment: Surgery, early intervention, infant stimulation, and learning programs

    Incidence: 1 in 1900 births at age 20
    1 in 300 births at age 35
    1 in 30 age 45
  • Klienefelter syndrome (xxy): An extra x chromosome causes physical abnormalities

    Treatment: Hormone therapy be affective

    Incidence: 1 in 600 male births
  • Fragile x syndrome: An abnormality in the x-chromosome can cause intellectual disability, learning disabilities, or short attention span

    Treatment: Special education, speech and language therapy

    Incidence: More common in males than females
  • Turner syndrome (xo): A missing X chromosome in females can cause intellectual disability and sexual underdevelopment

    Treatment: Hormone Therapy in childhood and puberty

    Incidence: 1 in 2500 births
  • xxy syndrome: An extra y-chromosome can cause above average height

    Treatment: No special treatment required

    Incidence: 1 in 100 male births
  • Cystic Fibrosis: Glandular dysfunction that interferes with mucus production; breathing and digestion are hampered, resulting in shortened life span

    Treatment: Physical & Oxygen therapy, synthetic enzymes and antibiotic, most individuals live till middle age

    Incidence: 1 in 2000 births
  • Diabetes: Body does not produce enough insulin, which causes abnormal metabolism of sugar

    Treatment: Early onset can be fatal unless treated with insulin

    Incidence: 1 in 2500 births
  • Hemophilia: Delayed blood clotting causes internal and external bleeding

    Treatment: Blood transfusions/injections can reduce or prevent damage due to internal bleeding

    Incidence: 1 in 10,000 males
  • Huntington's disease: Central nervous system deteriorates, producing problems in muscle coordination and mental deterioration

    Treatment: does not usually appear until 35 or older; death likely 10 to 20 years after symptom appears

    Incidence: 1 in 20,000 births
  • Phenylketonuria : Metabolic disorder that causes you to not produce enough amino acids, left untreated, causes intellectual disability

    Treatment: special diet

    Incidence: 1 in 10,000 to 1 in 20,000 births
  • Sickle cell anemia: Blood disorder that limits the body's oxygen supply; it can cause joint swelling, as well as heart and kidney failure.

    Treatment: Penicillin, medication for antibiotics & blood transfusions

    Incidence: 1 in 3000
  • Spina bifida: Neural tube disorder that causes brain and spine abnormalities

    Treatment: Corrective surgery at birth, orthopedic devices, and physical/medical therapy

    Incidence: 2 in 100 births
  • Tay-Sachs disease: Deceleration of mental and physical development caused by an accumulation of lipids in the nervous system
  • Ultrasound Sonography: a prenatal medical procedure in which high-frequency sound waves are directed into the pregnant woman’s abdomen
    • Echo from the sounds is transformed into a visual representation of the foetus’s inner structures
    • Can detect many abnormalities in the foetus
  • Foetal MRI: Uses powerful magnet & radio images of the body's organs and structures
    • stands for magnetic resonance imaging
    • More detailed than ultrasound
  • Chorionic Villus Sampling: a prenatal medical procedure in which a small sample of the placenta is removed (10th & 12th wk)
    • May be used to detect genetic defects/chromosomal abnormalities
    • Diagnosis takes 10 days
    • Small risk of limb deformity
  • Amniocentesis: a prenatal medical procedure in which a sample of amniotic fluid is withdrawn by syringe and tested for chromosomal/metabolic disorders
    • The later it is performed, the better the diagnostic potential
    • The earlier, the more useful on how to handle the pregnancy
    • Small risk of miscarriage; 1 woman in every 200 to 300
  • Maternal Blood Screening: Maternal blood contains proteins and hormones; identifies risk of birth defects. (16th to 18th wk)
  • Maternal blood screening would identify birth defects such as
    Down syndrome & Spina Bifida
  • Non-invasive Prenatal Diagnosis: Brain-imaging techniques, the isolation and examination of foetal cells circulating in the mother’s blood
    • Tests for genes through father
    • Able to detect sex of baby
  • Hormone-based drugs may improve the probability of having a child

    True or False?
    True
  • invitro fertilization: a procedure in which eggs and sperm are combined in a laboratory dish
    • Success depends on mother's age
  • What is two ways to discover a chromosomal abnormality while pregnant?
    Amniocentesis & Chronic Villus Sampling
  • What are the 3 kinds of gene environment correlation?
    passive, active, evocative
  • Active Genotype environment - Older children and adults gain more control over their choices and environment; actively seek out environments that compliment their heredity.
  • Passive genotype environment: The developing child has little control or influence on the environment.
    • Parents play a huge role: they provide environments influenced by their own heredity and they pass similar traits/heredity to the child
  • Musically inclined parents have musically inclined children
    This is an example of which environment correlation?
    Passive
  • Evocative genotype environment: A child's heredity evokes certain reactions from other people in the environment. The reaction increases the expression of the child's heredity.
  • Shared Environmental Experiences >> siblings’ common experiences
  • Non-Shared Environmental Experiences >> a child’s unique experiences, both within and outside the family, that are not shared with a sibling
  • Genes and peers are far more important than parents in shaping children’s and adolescents’ development

    True or False?
    True
  • Epigenetic View: development reflects an ongoing, bidirectional interchange between heredity and the environment
  • Gene x Environment (GxE) interaction involves the interaction of a specific measured variation in the DNA and a specific measured aspect of the environment