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

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.

Presenting physical characteristics, medical conditions, and developmental status of long‐term survivors with trisomy 9 mosaicism

“…This information can be used to further understanding of this unique group's medical and developmental needs. Further, although incidence rates are cited for trisomy 18 and trisomy 13 from 1:3,000 to 1:5,000 live births [Baty et al, 1994a[Baty et al, , 1994bBrewer et al, 2002;Crider et al, 2008], there appears to be no comparable information for individuals with trisomy 9 mosaicism as the literature on survivors is sparse. As TRIS project data indicates, there are long-term survivors with rare trisomy conditions.…”

“…Also, as evidenced in efforts by Baty et al [1994aBaty et al [ , 1994b, further collection of developmental data similar should be conducted and analyzed for this population.…”

Erring on the Side of Life: Children with Rare Trisomy Conditions, Medical Interventions and Quality of Life

“…This is in the face of multiple reports such as those from Japan of children living past the age of one year with positive surgical outcomes [17][18][19]. In addition, at the present time, there is very little literature on developmental outcomes [20,21]. This further impacts and reinforces the prevailing view that focuses on a limited quality of life and arguments against aggressive care [11][12][13]15].…”

Management of a patient with osteogenesis imperfecta and trisomy 18

“…Skeletal manifestations -Intrauterine and postnatal growth retardation, -Frequent prenatal and postnatal fractures -Increased risk of perinatal or postnatal mortality, -Deformed and shortened long bones: patients are small in stature -Soft skull at birth deforming during the first months of life: triangular face, with macrocephaly, micrognathia, small facial mass -Osteoporotic collapse of vertebrae, resulting in kyphosis and/or scoliosis, -Thoracic deformations, severe respiratory insufficiency Dentinogenesis imperfecta was observed in 80% affected patients [9] -Psychomotor disorders and marked cognitive disorders, developmental delays [7] (language, motor, and social skills [12])…”