Psyc3310 - abnormalities/prenatal

• 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