Deborah A. Bruns, Ph.D.Lea Robinson, B. S.

SOFT ConferenceRoanoke, VA

July 24, 2009

The Tracking Rare Incidence Syndromes (TRIS) project seeks to increase awareness

and knowledge for families and professionals touched by rare trisomy conditions and aims to facilitate improved

decision making for optimal services and supports for affected children

and their families.(www.coehs.siu.edu/tris)

Principal Investigator’s experience with young children with full trisomy 18 in early 1990’s

Parent/family concerns on Tri-family and Tri-med lists including family needs, working with professionals & medical concerns

Formation of planning group TRIS was “born” in 2003; pilot data collected

in 2005-06; online survey launched 2/1/07

Abnormalities of the skull and/or facial region including sloping forehead, deep-set eyes, short eyelid folds and low-set or malformed ears

Gastroesophageal reflux Diaphragmatic hernia Brain malformation (choroid plexus cyst) Congenital heart disease Cardiac defects Dislocations Joint anomalies

Jones, K. L. (2006). Smith’s recognizable patterns of human malformation (Sixth Edition). Philadelphia, PA: Elsevier Saunders.

Much of the literature focus on prenatal testing to detect trisomy 9 such as through amniocentesis (Francke, Benirschke & Jones, 1975; Merino, De Perdigo, Nombalais, Yvinec, Roux & Bellec, 1993; Schwartz, Ashai, Meijboom, Schwartz, Sun & Cohen, 1989) or sonogram (Benacerraf, Pauker, Quade & Bieber, 1992; Schwendenman, Contag, Wax, Miller, Polzin & Koty, 2009).

Two studies were located describing the trisomy 9 phenotype (Arnold, Kirby, Stern & Sawyer, 1995; Williams, Zardawi, Quaife & Young, 1985) including intrauterine growth retardation, facial dysmorphism and organ system anomalies.

There is limited research literature describing survivors (e.g., Angle, Yen & Cole, 1999; Chitayat et al., 1995; Feingold & Atkins, 1973; Francke, Benirschke & Jones,1975; Sanchez, Fijtman & Migliorini, 1982).

Full and Modified Surveys Follow-up Survey

406 parents in TRIS project database (contact and child information and survey access data)

As of July 1, 2009, TRIS Survey completions:◦ Total received = 262 (64.5% of TRIS project

database) Full Survey = 142 6/24; full t18 is largest group

(32, 22.5%); Number with t9 variant = 22 (15.4%) Modified Survey = 120; full t13 is largest group

(87, 73%); Number with t9 variant = 1 with t9m (.08%)◦ Follow-up Survey

Year 1 – 2007 completions = 45 eligible, received 31 (69%); 2008 completions (1/1-6/30) = 36 eligible, received 14 (39%)

Year 2 – 2007 completions (1/1-6/30) = 21 eligible, received 15 (71%)

Children: 22 with t9 variant ◦ Mosaic = 8; partial = 9; p arm = 5◦ Survival rates: 2–468 months at survey completion;

mean = 92 months; all living at present Mothers:

◦ Age at child’s birth: 24–41 years; mean = 32.2 years◦ Marital status: Married = 18 (86%);

Single, Divorced and Widowed = 1 each (5%)◦ Ed. level: 10-12 years = 2 (9.1%);

13–16 years = 8 (36.4%); 17–20 years = 10 (45.5%);

more than 20 years = 2 (9.1%)

Facial characteristics◦15/21 (71.4%) with low set ears◦9/21 (42.9%) with small jaw◦2/21 (9.5%) with cleft lip

4/21 (19.0%) cleft palate

5/20 (25%) with microcephaly 4/22 (18.2%) with rocker bottom feet

Difficulties noted at birth:◦Feeding 17/21 (81.0%)◦Respiratory 7/21 (33.3%)◦Kidney 2/20 (10%) ◦Heart murmur

3/20 (15%) ◦Jaundice

8/20 (40%)

Heart conditions◦Atrial septal defect 4/20 (20%)◦Patent ductus arteriosis 2/20 (10%)◦Ventricular septal defect 2/20 (10%)

Ear conditions◦Conductive hearing loss 3/11 (27.3%)◦Otitis media 6/13 (46.2%)◦Wax build up or blockage 4/11 (36.4%)

Gastroesophageal reflux was indicated for 85.0% (11/13)◦Medication prescribed for 10 of 13

(76.9%) Prevacid – most commonly used (10/11,

90.1%) Milk of Magnesia Miralax Zantac

Results indicating more than 50% of respondents:◦ Gastroenterology 10/16 (62.5%)◦ Genetics 13/15 (86.7%)◦ Neurology 11/17 (64.7%)◦ Ophthalmology

14/18 (77.8%)◦ Orthopedics

9/15 (60%)

TRIS Survey results are more positive than previous literature (e.g., long term survivors, limited medical issues)

Need for larger sample and longitudinal data

Share data with families andprofessionals involved in care

Homepage Project staff TRIS Flyer and Brochure TRIS Survey Family Resources In the News Photo Gallery Give to TRIS

Support Organization for Trisomy 18, 13 and related disorders (SOFT)

Hope for Trisomy 13 and 18 Noah's Never Ending Rainbow Southern Illinois University Carbondale

Online support◦tri listservs (tri-med, tri-family)◦ livingwithtrisomy13.org

Debbie BrunsTRIS Principal Investigator

Email: dabruns@siu.edu Shirley (Fawna) LockwoodTRIS Research Coordinator

Email: fawna33@mindspring.com Contact us at tris@siu.edu

participate in the project