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Common Signs of Fragile X Syndrome

see also: Feature l Additional Resouces

  • A family history of autism, mental retardation, fragile X syndrome, or learning problems
  • Physical signs
    • long or protruding ears
    • long or wide forehead
    • high, arched palate
  • Cognition
    • males: moderate mental retardation, range from profound retardation to average intelligence
    • females: normal intelligence, with learning disabilities to mild-to-moderate mental retardation
    • males and females: visual spatial, attention, executive function, and math difficulties
  • Speech
    • perseverative and repetitive speech
    • reduced speech intelligibility (particularly in males)
    • rapid and uneven rate
    • phonological delays
  • Oral motor
    • low muscle tone
    • motor planning and sequencing difficulties
    • tactile defensiveness
  • Language
    • difficulty maintaining a topic
    • interested in social interactions
    • word retrieval difficulties
    • delays in vocabulary and syntax
  • Adaptive behavior
    • social anxiety and gaze aversion
    • hyperarousal and hypersensitivity to stimuli
    • stereotypic behavior such as hand flapping
    • short attention span and hyperactivity

 



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