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Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and

Deborah A Bruns1

  • 1Southern Illinois University Carbondale, Carbondale, Illinois.

American Journal of Medical Genetics. Part A
|April 8, 2015
PubMed

Insights

Children with trisomy 18 and trisomy 13 demonstrate a range of developmental skills, contrary to the belief that these conditions are incompatible with life. This study highlights strengths in communication, motor skills, and social-emotional domains, suggesting further exploration of abilities is needed.

Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Medical Genetics

Background:

  • Trisomy 18 and trisomy 13 are often considered "lethal anomalies" with grim prognoses for long-term survival.
  • Developmental status in these conditions is typically presumed to be minimal.

Purpose of the Study:

  • To describe the range of developmental skills in children with trisomy 18 and trisomy 13.
  • To challenge the deficit-focused perspective by highlighting existing abilities.
  • To inform future research and clinical recommendations.

Main Methods:

  • Case series describing an additional 22 children with trisomy 18 and 8 children with trisomy 13.
  • Analysis of developmental skills across various domains.

Main Results:

  • A spectrum of developmental skills was observed in the studied children.
  • Strengths were noted in language and communication, gross and fine motor skills, and social-emotional development.
  • Specific skills included indicating preferences, object exploration, and voluntary mobility.

Conclusions:

  • The findings expand the understanding of developmental potential in trisomy 18 and trisomy 13.
  • There is a need to shift focus from deficits to exploring developmental abilities.
  • Further research and tailored interventions are recommended.

Keywords:
developmental skillsdevelopmental statustrisomy 13trisomy 18

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