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Natural history of trisomy 18 and trisomy 13: II. Psychomotor development
B J Baty1, L B Jorde, B L Blackburn
1Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
Insights
Children with trisomy 18 and trisomy 13 show significant developmental delays, with the highest developmental quotients (DQ) observed in early childhood. Despite severe handicaps, they continue to achieve developmental milestones and learn throughout life.
Area of Science:
- Genetics
- Developmental Pediatrics
- Disability Studies
Background:
- Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) are severe chromosomal abnormalities associated with significant developmental challenges.
- Understanding the developmental trajectory and skill acquisition in these populations is crucial for providing appropriate support and interventions.
Purpose of the Study:
- To analyze and compare the developmental progress and skill attainment in individuals with trisomy 18 and trisomy 13.
- To identify patterns in developmental quotients (DQ) across different age groups and skill domains.
Main Methods:
- Retrospective chart review of developmental data for 50 individuals with trisomy 18 and 12 with trisomy 13.
- Parent questionnaires collected from 62 individuals with trisomy 18 and 14 with trisomy 13 to gather information on developmental skill achievement.
- Calculation of developmental quotient (DQ) as developmental age divided by chronological age.
Main Results:
- Average DQs were 0.18 for trisomy 18 and 0.25 for trisomy 13, indicating severe developmental handicaps.
- A significant decline in DQ was observed from infancy to later childhood, with the highest DQs and variability in the first 2-3 years.
- Daily living and receptive language skills showed higher developmental ages compared to motor and communication skills.
Conclusions:
- Individuals with trisomy 18 and 13 experience severe to profound developmental disabilities but demonstrate continuous learning and psychomotor maturation.
- Early childhood is a critical period for development, showing the highest DQs and greatest variability in these conditions.
- While motor and communication skills lag, receptive language and daily living skills show more advanced development, informing targeted support strategies.
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.