Literature DB >> 7509567

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

B J Baty1, L B Jorde, B L Blackburn, J C Carey.   

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.

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Year:  1994        PMID: 7509567     DOI: 10.1002/ajmg.1320490205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.

Authors:  Keiko Koide; Donna K Slonim; Kirby L Johnson; Umadevi Tantravahi; Janet M Cowan; Diana W Bianchi
Journal:  Hum Genet       Date:  2010-12-09       Impact factor: 4.132

Review 2.  Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature.

Authors:  Hao-Wei Tang; Su-Fen Liao; Jyun-Sian Li
Journal:  Eur J Pediatr       Date:  2013-05-12       Impact factor: 3.183

3.  Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK.

Authors:  D J C Wilkinson; L de Crespigny; C Lees; J Savulescu; P Thiele; T Tran; A Watkins
Journal:  Prenat Diagn       Date:  2013-10-30       Impact factor: 3.050

4.  Cardiac Surgery in Patients With Trisomy 13 and 18: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.

Authors:  David S Cooper; Kyle W Riggs; Farhan Zafar; Jeffrey P Jacobs; Kevin D Hill; Sara K Pasquali; Sara K Swanson; Sarah K Gelehrter; Amelia Wallace; Marshall L Jacobs; David L S Morales; Roosevelt Bryant
Journal:  J Am Heart Assoc       Date:  2019-06-25       Impact factor: 5.501

5.  Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18.

Authors:  Nansi S Boghossian; Nellie I Hansen; Edward F Bell; Barbara J Stoll; Jeffrey C Murray; John C Carey; Ira Adams-Chapman; Seetha Shankaran; Michele C Walsh; Abbot R Laptook; Roger G Faix; Nancy S Newman; Ellen C Hale; Abhik Das; Leslie D Wilson; Angelita M Hensman; Cathy Grisby; Monica V Collins; Diana M Vasil; Joanne Finkle; Deanna Maffett; M Bethany Ball; Conra B Lacy; Rebecca Bara; Rosemary D Higgins
Journal:  Pediatrics       Date:  2014-01-20       Impact factor: 7.124

Review 6.  The trisomy 18 syndrome.

Authors:  Anna Cereda; John C Carey
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123

7.  Sonographic findings in partial type of trisomy 18.

Authors:  Maryam Niknejadi; Firoozeh Ahmadi; Farnaz Akhbari; Parvaneh Afsharian
Journal:  Int J Fertil Steril       Date:  2013-12-22

8.  Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.

Authors:  George Imataka; Hiroshi Suzumura; Osamu Arisaka
Journal:  Mol Med Rep       Date:  2016-01-22       Impact factor: 2.952

  8 in total

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