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a child with abnormal facies

chromosomes
1. nucleotides
  1. sequence of DNA
    1. Genes located precisely
    2. responsible of
      1. development and inherited characteristics
2. Histones
  1. proteins
    1. packaging the DNA
3. Human Chromosomes
  1. 23 pairs
    1. Numbered due to their sizes
    2. half the number
      1. sperm
        XY
      2. eggs
        XX
chromosomal abnormalities
methods to indicate chromosomal abnormalities
1. karyotyping
  1. when it is done
    1. newborn
      1. physical defects
    2. child
      1. developmental delays
    3. couples
      1. miscarriage
  2. definition
    1. test counts the number of chromosomes and looks for structural changes in them
  3. how it is done
    1. 2Methods
      1. G-Banding
      2. FISH
2. Preconception Screening
3. Pero-conception Screening
4. Neonatal screening
Down Syndrome
1. Types
  1. Trisomy 21
  2. Mosaicism
  3. Translocation
2. Signs and Symptoms
3. Inheritance pattern
  1. Can be inherited
    1. translocation
  2. Not inherited
    1. nondisjunction
    2. mosaicism
  3. Process
    1. balanced translocation
      1. unbalanced translocation
        Down syndrome
Antenatal tests to detect Down Syndrome
1. Screening tests
  1. first trimester combined test
    1. Blood test
      1. (PAPP-A)
      2. HCG
    2. Nuchal translucency test
      1. ultrasound
        measure a specific area on the back of the baby's neck
  2. Second trimester
    1. measures blood level of
      1. alpha fetoprotein, estriol HCG inhibin A.
2. Diagnostic tests
  1. CVS
    1. 10-13 weeks
  2. Amniocentesis
    1. after 15 weeks
developmental and intellectual complications
1. systemic anomalies
2. Immunity & Hypothyroidism
3. Blood & muscles disorders
4. Learning disability
Breaking bad news
1. setting up
  1. assesing perception
    1. giving information
      1. emotions and empathy
        strategy and summary
Genetic counselling
1. how
  1. Analyzing small samples of blood or body tissues
2. who
  1. Professionals who got a master's program in medical genetics and counseling skills
3. for
  1. All pregnant women
Sharjah city of humanitarian services
1. social and rehabilitation plan
  1. Early intervention
    1. Physical therapy
      1. Language and speech therapy
        Occupational therapy
2. services
  1. • Al Amal school for the deaf
  2. • Al Wafa school for capacity development
  3. • Sharjah autism center
  4. • Physical and occupational therapy department
psycho-socio-economic impact on the family
1. Mental health
  1. Anxiety
  2. Feeling of isolation
2. Physical health
  1. Fatigue
3. Care burden
  1. TIME BURDEN
  2. FINANSIAL BURDEN
Intellectual disabilities
1. IQ definition
  1. Intelligence Quotient
    1. Kaufman Assessment Battery for Children
    2. Raven’s Progressive Matrices
2. Degree of intellectual disabilities
3. other tests to measure the intellectual level of Down Syndrome
  1. Comprehensive assessment
  2. IQ Measurement/Behavioral Scale

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a child with abnormal facies

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	Created by moumen mohamed about 7 years ago