Natural history of trisomy 18 and trisomy 13: II. Psychomotor development

Am J Med Genet. 1994 Jan 15;49(2):189-94. doi: 10.1002/ajmg.1320490205.

Abstract

Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12 trisomy 13 individuals ranging in age from 1 to 130 months. Data on the age when trisomy 18 and trisomy 13 children achieved developmental skills were collected from a larger group of 62 trisomy 18 individuals and 14 trisomy 13 individuals whose families filled out parent questionnaires. Developmental quotient (DQ), defined as developmental age divided by chronological age, averaged 0.18 for trisomy 18 and 0.25 for trisomy 13. There was a dramatic drop in DQ from infancy to later childhood. The highest DQs and the greatest variation in DQs were in the first 2-3 years of life. Developmental ages in 7 skill areas were significantly different, with daily living and receptive language having the highest values and motor and communication skills having the lowest. When chronological age was taken into account, there was no significant difference in DQs in the same 7 skill areas, although there was a trend that was similar to the pattern of differences with developmental age. Older children could use a walker, understand words and phrases, use a few words and/or signs, crawl, follow simple commands, recognize and interact with others, and play independently. Walking and some toileting skills were also reported for trisomy 13. Although individuals with trisomy 18 and trisomy 13 were clearly functioning in the severe to profound developmentally handicapped range, they did achieve some psychomotor maturation and always continued to learn.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / psychology
  • Child
  • Child, Preschool
  • Chromosome Aberrations / psychology*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 18*
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Psychomotor Performance
  • Retrospective Studies
  • Surveys and Questionnaires
  • Trisomy / physiopathology*