Genetic predisposition

Cards (13)

  • Szatmari - Sibling risk

    Siblings of people with ASD meet the criteria for ASD 2.2% whereas those without siblings who have ASD is 0.11% - 20x greater
  • Bailey - Concordance rate in twin studies

    When one of the twins had ASD (met a criteria) - MZ 60%, DZ 0%. Wider definition - MZ 92.5%, DZ 10%
  • Multiplex ASD
    Genetic variations that are inherited, runs in family
  • Simplex ASD
    10% of cases 'de novo'. New mutation DNA deleted or duplicated as ovum divides. Affects multiple genes. Older parents.
  • Syndromic ASD
    Accompanied by other conditions that may have well-established genetic case (one gene). Behaviour overlap offer cues to genetic factors involved.
  • Concordance rate in twin studies (Colvert)
    MZ 0.77-0.99, DZ 0.22-0.65. Estimated inheritance 56%-95% depending on measure used.
  • Earlier diagnosis and more effective interventions
    Offer fuller understanding
  • Twin studies can't rule out environmental factors
  • Diathesis stress model
    ASD caused by interaction of genetic disposition with early insult to developing brain. Not genes alone.
  • Could learn and reduce environmental factors
  • Chemical exposure in early pregnancy - prenatal exposure
  • Highly heterogeneous - many traits. Genes make more contribution to some traits than others - none to cause the disorder
  • Benvenuto - 90% ASD caused by multiple genes interaction with another and environmental factors