Studies and Research
Here, SOFT provides links to studies (in blue), or abstracts of studies or the entire study, should copyright law permit it. Click on the highlighted portion of each entry to be taken to the relevant document, where links are available..
NIH FASTER Study Concludes First Trimester Screening Is Better Than Second Trimester Down Syndrome Screening
First trimester Nuchal Translucency/freeBeta/PAPP- A prenatal screening for chromosomal disorders (Downs, T18/T13) has been confirmed by the NIH FASTER Study to be more effective than second trimester screening methods.
Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
A study of mortality in patients with tTrisomy 18 and 13.
Management of infants with large, unrepaired ventricular septal defects (VSDs)
Management of infants with large, unrepaired ventricular septal defects and respiratory infection requiring mechanical ventilation
• The Experience of Families With Children With Trisomy 13 and 18 in Social Networks by Annie Janvier, MD, PhD, Barbara Farlow, BEng, MBA and Benjamin S. Wilfond
• Communication ability in persons with Trisomy 18 and Trisomy 13. AAC Augmentative and Alternative Communication. By Braddock, B., McDaniel, J., Spragge, S., Loncke, F., Braddock, S.R., & Carey, J.C. (2012, in press). When available, this document will be put on line on this site. Here is the abstract:
The purpose of this study was to assess communication abilities among a sample of 10 individuals with Trisomy 18 and Trisomy 13. These 10 individuals were diagnosed with Trisomy 18 (n = 8) or Trisomy 13 (n = 2) and had a mean age of 15.96 years. The sample consisted of one male and nine females. Caregivers completed a case history and reported on words and gestures understood and/or produced. Participants were also videotaped during communication temptation tasks. Auditory comprehension was reported to be higher than expressive language. No participant produced intelligible words or word approximations, yet most produced hand gestures. The process and results of these 10 cases point to a potentially promising approach for assessing communication abilities in individuals with Trisomy 18 and Trisomy 13.
Inpatient Hospital Care of Children With Trisomy 13 and Trisomy 18 in the United States, by Katherine E. Nelson, MD, Kari R. Hexem, MPH and Chris Feudtner, MD, PhD, MPH
BACKGROUND AND OBJECTIVE: Trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth. The inpatient hospital care that these patients receive has not been adequately described. This study characterized inpatient hospitalizations of children with trisomy 13 and trisomy 18 in the United States, including number and types of procedures performed.
METHODS: Retrospective repeated cross-sectional assessment of hospitalization data from the nationally representative US Kids’ Inpatient Database, for the years 1997, 2000, 2003, 2006, and 2009. Included hospitalizations were of patients aged 0 to 20 years with a diagnosis of trisomy 13 or trisomy 18.
RESULTS: The number of hospitalizations for each trisomy type ranged from 846 to 907 per year for trisomy 13 (P = .77 for temporal trend) and 1036 to 1616 per year for trisomy 18 (P < .001 for temporal trend). Over one-third (36%) of the hospitalizations were of patients older than 1 year of age. Patients underwent a total of 2765 major therapeutic procedures, including creation of esophageal sphincter (6% of hospitalizations; mean age 23 months), repair of atrial and ventricular septal defects (4%; mean age 9 months), and procedures on tendons (4%; mean age 8 years).
CONCLUSIONS: Children with trisomy 13 and trisomy 18 receive significant inpatient hospital care. Despite the conventional understanding of these syndromes as lethal, a substantial number of children are living longer than 1 year and undergoing medical and surgical procedures as part of their treatment.
Inpatient Hospital Care of Children With Trisomy 13 and Trisomy 18 … pediatrics.aappublications.org/content/…/peds.2011-2139.full.pdf
J Med Genet2002;39:e54 doi:10.1136/jmg.39.9.e54
Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers
1. C M Brewer
2. S H Holloway
3. D H Stone
4. A D Carothers
5. D R FitzPatrick
+ Author Affiliations
1. 1South Western Regional Genetics Service – Devon and Cornwall, Royal Devon & Exeter Hospital, Exeter EX2 5DW, UK
2. 2South-East Scotland Clinical Genetics Services, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, UK
3. 3Paediatric Epidemiology and Community Health (PEACH) Unit, University of Glasgow, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK
4. 4MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Correspondence to: Dr D R FitzPatrick, MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK; firstname.lastname@example.org
Although long term survivors are well documented, infants with the autosomal trisomies 18 (Edwards syndrome) or 13 (Patau syndrome) usually die in the first few days or weeks of life. Accurate estimates of life expectancy are few, particularly in the case of trisomy 13. There have been six population surveys of survival in trisomy 18, comprising 430 unselected cases.1–6 In contrast there have been only two such studies of trisomy 13 involving 35 cases.4,7 A reliable estimate of survival time is important when counselling parents following a pre- or postnatal diagnosis. The fact that a significant proportion of infants succumb within the first 24 hours is a major contributing factor to the short median survival time. Given this fact, a means of revising the estimate of survival when an infant is already several days old is important. Using information available on infants with trisomy 13 or 18 born in Scotland from 1974 to 1997, we have calculated median survival times in this population and prepared revised figures which take into account continued survival.
PATIENTS AND METHODS
Cases were ascertained from two sources, the Scottish Trisomy Register 1989-1997 and the Glasgow Register of Congenital Anomalies 1974-1989. The Scottish Trisomy Register was established in 1989 and is a database of autosomal trisomies in Scotland; information is collected from the Scottish service laboratories and includes name, date of birth, type of sample, karyotype, and whether liveborn.8,9 Dates of death are ascertained separately. The Glasgow Register of Congenital Anomalies is a multisource, population based congenital anomaly database of offspring of mothers resident in the Greater Glasgow Health Board area. Diagnostic validation by trained registry workers is performed on all notified cases. Only liveborn, non-mosaic free trisomies, both pre- and postnatally ascertained, were included in this study. These two sources provide …
American Journal of Medical Genetics 49:189-194 (1994)
Natural History of Trisomy 18 and Trisomy 13:
II. Psychomotor Development
Bonnie J. Baty, Lynn B. Jorde, Brent L. Blackburn, and John C. Carey
Division of Medical Genetics, Department of Pediatrics (B.J.B., B.L.B., J.C.C.), and Department of Human Genetics
(LB.J.), University of Utah School of Medicine, Salt Lake City, Utah
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 develop mental skills were collected from a larger group of 62 trisomy 18 individuals and 14 tri somy 13 individuals whose families filled out parent questionnaires. Developmental quo tient (DQ), defined as developmental age di vided by chronological age, averaged 0.18 for trisomy 18 and 0.25for 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 f’n-st 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 differ ence in DQs in the same 7 skill areas, although there was a trend that was similar to the pat tern of differences with developmental age. Older children could use a walker, under stand 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. Al though individuals with trisomy 18 and tri somy 13 were clearly functioning in the severe to profound developmentally handicapped range, they did achieve some psychomotor maturation and always continued to learn.
© 1994 Wiley-Liss, Inc.
updated 8/1/2012 fb