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Mental development in Down syndrome mosaicism.

K Fishler1, R Koch

  • 1University of Southern California School of Medicine.

American Journal of Mental Retardation : AJMR
|November 1, 1991
PubMed
Summary
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Mosaic Down syndrome typically presents with higher IQ levels and better verbal skills compared to trisomy 21 Down syndrome. Early identification in children with IQs over 60 may suggest mosaicism, requiring chromosomal analysis for confirmation.

Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Clinical Psychology

Background:

  • Down syndrome is a genetic disorder typically caused by trisomy 21.
  • Mosaic Down syndrome, a less common form, involves a mixture of cells with and without an extra chromosome 21.
  • Understanding cognitive and developmental differences between these forms is crucial for targeted interventions.

Purpose of the Study:

  • To compare the mental status and cognitive abilities of individuals with Down syndrome mosaicism versus those with trisomy 21 Down syndrome.
  • To identify potential indicators for suspected mosaic Down syndrome in early childhood.

Main Methods:

  • Serial mental status assessments were conducted on two groups of 30 subjects each.
  • The groups comprised individuals with Down syndrome mosaicism and trisomy 21 Down syndrome, matched for age, sex, and socioeconomic background.

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  • Cognitive and verbal abilities were evaluated.

    • Main Results:

    • The mosaic Down syndrome group demonstrated a significantly higher mean IQ level compared to the trisomy 21 group.
    • Individuals with mosaic Down syndrome exhibited enhanced verbal abilities.
    • Some participants with mosaicism displayed normal visual-perceptual skills on specific tasks.

    Conclusions:

    • Mosaic Down syndrome is associated with potentially higher cognitive functioning and specific skill advantages compared to trisomy 21.
    • Children with Down syndrome exhibiting an IQ above 60 by age five and relatively normal speech should be evaluated for suspected mosaicism.
    • Definitive diagnosis of mosaic Down syndrome necessitates chromosomal analysis.