Trisomy 9 update from the TRIS project

Trisomy 9 update from the TRIS project Deborah A. Bruns, Ph.D. Lea Robinson, B. S. SOFT Conference Roanoke, VA July 24, 2009

Mission statement 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)

How the TRIS project began • 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

Common characteristics of individuals with trisomy 9 • 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’srecognizable patterns of human malformation (Sixth Edition). Philadelphia, PA: Elsevier Saunders.

Avaialble literature • 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).

Available literature continued • 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).

The TRIS Survey: Data collection instrument for the project • Full and Modified Surveys • Follow-up Survey

Completed surveys • 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%)

Demographic data • 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%)

TRIS Survey results (n=22) • 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

TRIS Survey results continued • Difficulties noted at birth: • Feeding 17/21 (81.0%) • Respiratory 7/21 (33.3%) • Kidney 2/20 (10%) • Heart murmur3/20 (15%) • Jaundice 8/20 (40%)

TRIS Survey results continued • Heart conditions • Atrial septal defect 4/20 (20%) • Patent ductusarteriosis 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%)

TRIS Survey results continued • 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

Specialty care • 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%)

Implications • 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

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

TRIS project funding sources • 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

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

Trisomy 9 update from the TRIS project