ch 37 box 37.3: clinical manifestations of fragile x syndrome

Question 1

what are the physical clinical manifestation of fragile x syndrome?

Answer 1

• increased head circumference
• long, wide or protruding ears
• long, narrow face with prominent jaw
• strabismus
• mitral valve prolapse, aortic root dilation
• hypotonia
• enlarged testicles

Question 2

what are the behavioral features?

Answer 2

• mild to severe cognitive impairment
• speech delay – may be rapid speech with stuttering & word repetition
• short attention span, hyperactivity
• hypersensitivity to taste, sounds, & touch
• intolerance to change in routine
• autistic like behaviors: social anxiety & gaze aversion
• possible aggressive behavior