1. Deborah A. Bruns, Ph.D. Lea Robinson, B. S. SOFT Conference Roanoke, VA July 24, 2009

2. 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)www.coehs.siu.edu/tris

3.  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

4.  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.

5.  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).

6.  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).

7.  Full and Modified Surveys  Follow-up Survey

8.  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%)

9.  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%)

10.  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

11.  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%)

12.  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%)

13.  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

14.  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%)

15.  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 and professionals involved in care

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

17.  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

18.  Debbie Bruns TRIS Principal Investigator Email: dabruns@siu.edu  Shirley (Fawna) Lockwood TRIS Research Coordinator Email: fawna33@mindspring.com  Contact us at tris@siu.edu participate in the project