Topic 6 Down Syndrome and Fragile X

• What are common manifestations of Down syndrome?

  • Square head with upward slant to eyes
  • Flat nasal bridge, protruding tongue
  • Hypotonia
• What physical problems do Down syndrome people have?

  • Congenital heart disease
  • Hypothyroidism
  • Leukemia
• What is fragile X syndrome?

  Second most inherited cause of cognitive impairment after Down syndrome caused by an abnormal gene of the long arm of the X chromosome.
• What are signs of Fragile X syndrome?

  • Large head circumference
  • Long face with prominent jaw (Prognathism)
  • Large, protruding ears
  • Large testes (postpubertal)
• What are behavioral features of Fragile X?

  Intellectual disability, social anxiety, hyperactivity, hypersensitivity, autistic-like behaviors, aggressive behaviors.
• Is there a cure for Fragile X?

  No.
• What can be given for behavioral control for Fragile X?

  Carbamazepine or Fluoxetine to control violent outbursts. Clonidine to improve attention span.