Deborah A. Bruns, Ph.D.Lea Robinson, B. S.SOFT ConferenceRoanoke, VAJuly 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 Investigators experience with young children with full trisomy 18 in early 1990sParent/family concerns on Tri-family and Tri-med lists including family needs, working with professionals & medical concernsFormation 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 earsGastroesophageal reflux Diaphragmatic herniaBrain malformation (choroid plexus cyst)Congenital heart disease Cardiac defectsDislocationsJoint anomalies

Jones, K. L. (2006). Smiths 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 SurveysFollow-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 SurveyYear 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 = 5Survival rates: 2468 months at survey completion; mean = 92 months; all living at presentMothers: Age at childs birth: 2441 years; mean = 32.2 yearsMarital status: Married = 18 (86%); Single, Divorced and Widowed = 1 each (5%)Ed. level: 10-12 years = 2 (9.1%); 1316 years = 8 (36.4%); 1720 years = 10 (45.5%); more than 20 years = 2 (9.1%)

Facial characteristics15/21 (71.4%) with low set ears9/21 (42.9%) with small jaw2/21 (9.5%) with cleft lip 4/21 (19.0%) cleft palate

5/20 (25%) with microcephaly4/22 (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 conditionsAtrial septal defect 4/20 (20%)Patent ductus arteriosis 2/20 (10%)Ventricular septal defect 2/20 (10%)

Ear conditionsConductive 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 MagnesiaMiralaxZantac

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 dataShare data with families and professionals involved in care

HomepageProject staff TRIS Flyer and Brochure TRIS SurveyFamily ResourcesIn the NewsPhoto GalleryGive to TRIS

Support Organization for Trisomy 18, 13 and related disorders (SOFT)Hope for Trisomy 13 and 18Noah's Never Ending RainbowSouthern Illinois University Carbondale

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

Debbie BrunsTRIS Principal InvestigatorEmail: dabruns@siu.eduShirley (Fawna) LockwoodTRIS Research CoordinatorEmail: fawna33@mindspring.com Contact us at tris@siu.edu participate in the project