February 1, 2024

Fragile X Syndrome

Fragile X Syndrome is one of the most common forms of inherited intellectual disability in children. This condition arises by a mutation in a single gene on the X chromosome. Both males and females can have Fragile X; however, as males have only one X chromosome, they are usually affected more severely and show poorer functioning.

Fragile X Syndrome is one of the most common forms of inherited intellectual disability in children.  This condition arises by a mutation in a single gene on the X chromosome.  Both males and females can have Fragile X; however, as males have only one X chromosome, they are usually affected more severely and show poorer functioning.

Physical Features Associated with Children who have Fragile X:

  • Long faces and prominent ears
  • Flat feet
  • Flexible joints and low muscle tone
  • Large body size
  • Soft skin

Cognitive Features Associated with Children who have Fragile X:

  • Median IQ in moderate impaired range for males
  • Median IQ in low average range for females
  • Articulation and speech difficulties
  • Pragmatic (Social) language difficulties
  • Understanding idioms and non-literal languag
  • Inferring meaning from contex
  • Echolalia (repeating what others state)
  • Poor motor movements
  • Difficulties with visual spatial functioning
  • Poor mathematics and abstract reasoning
  • Difficulties with executive functioning
  • Difficulties with socialization

Research has demonstrated that children with Fragile X Syndrome often benefit from a multi-faceted treatment approach which might include:

  • Sign language if there are significant deficits with language functioning
  • Minimization of visual and auditory distractions in the classroom
  • Academic intervention focused on an individual level versus a group level
  • Stimulant medication for difficulties with attention
  • Speech/language therapy for language development
  • Occupational Therapy for motor and visual spatial development.

To find out more how your child may benefit from treatment, click here to contact us.

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