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Fragile X Syndrome Checklist

 

Not present
score 0

Borderline or present in the past
score 1

Definitely present
score 2

 Mental retardation
 Hyperactivity
 Short attention span
 *Tactilely defensive
 Hand-flapping
 Hand-biting
 Poor eye contact
 *Perseverative speech
 *Hyperextensible MP joints
 Large or prominent ears
 Large testicles
 *Simian crease or Sydney line
 Family history of mental retardation

Total score ______

 

 

 

    *Tactilely defensive = having a negative response to touch
    Perseverative speech = continued repetition of words or phrases
    Hyper extensible MP joints = double jointed
    Simian crease = a single horizontal crease on the palm instead of the usual two creases
    Sydney line = a horizontal crease that goes from edge to edge across the palm

Give 2 points if the feature is present, 1 point if the feature was present in the past or is present to a borderline degree, and 0 points if the feature is absent.

Hagerman, Amiri, and Cronister found that 45 percent of males with a score of 16 or higher and 60 percent of those with a score of 19 or higher had fragile X syndrome.

    Please Note: Not all children with fragile X syndrome score 16 or higher, and many higher functioning children with the syndrome may have low scores on this rating.

Randi Hagerman, M.D.,
M.I.N.D. Institute,
University of California, Davis

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