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Related Experiment Videos

Fragile X syndrome: growth, development, and intellectual function.

L A Prouty1, R C Rogers, R E Stevenson

  • 1Greenwood Genetic Center, South Carolina 29646.

American Journal of Medical Genetics
|May 1, 1988
PubMed
Summary

Fragile X chromosome (fra(X)) affects males and females, causing developmental delays in psychomotor, speech, and language. Affected individuals show significant intellectual impairment, with performance decreasing with age.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • Fragile X syndrome (FXS) is a genetic disorder.
  • FXS is the most common cause of inherited intellectual disability.
  • Understanding the developmental trajectory in FXS is crucial for intervention.

Purpose of the Study:

  • To assess growth, psychomotor, speech, language, and intellectual development in individuals with fragile X chromosome.
  • To characterize the developmental patterns and intellectual decline in males and females with FXS.

Main Methods:

  • Longitudinal data collection on growth parameters (head circumference, length, weight).
  • Assessment of psychomotor milestones (sitting, walking, first words).
  • Evaluation of speech, language, articulation, voice quality, and intellectual function (IQ testing).

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Main Results:

  • Males with FXS exhibited delayed psychomotor development and significant language delays, with articulation abnormalities and voice quality issues.
  • Intellectual function in males with FXS averaged an IQ of 33, with a decline observed with increasing age.
  • Female carriers expressing the fragile X chromosome also showed intellectual impairment and age-related performance decrease, while non-expressing carriers had normal IQs.

Conclusions:

  • Fragile X chromosome significantly impacts multiple developmental domains in both males and females.
  • Progressive intellectual decline is a key feature in individuals with FXS.
  • Early identification and intervention are critical for managing the developmental and intellectual challenges associated with FXS.