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TRIS project: Publications and Presentations

Below is a list of recent TRIS project publications and presentations. A full list of each is available as PDF documents (click on the hyperlinks above). Please share this information with families and medical professionals.

2016

Bruns, D. A., & Martinez, A. (2016). A review of cardiac conditions and surgical interventions in 84 cases with full trisomy 18. American Journal of Medical Genetics Part A, 170(2), 337-343.

Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.

Bruns, D. A., Martinez, A., & Campbell, E. (2016). Oral health needs in individuals with          trisomy 18 and trisomy 13: Implications for professionals. Special Care in Dentistry, 36(1), 18-24.

The purpose of this study was to examine oral health needs and dental care in individuals with trisomy 18 and trisomy 13 (full, mosaic, partial and other, mixed types). Primary feeding method was also examined. Data was collected from a parent-completed, mixed method survey (TRIS Survey). Mean age in months was 120.2 (range 38 to 394 months) and 133 (range 36 to 405 months), respectively, for trisomy 18 and trisomy 13 individuals. Results indicated the majority of individuals received routine dental care from their family dentist. Approximately 80% in both groups needed some form of specialized dental care. Close to 25% and 30% of trisomy 18 and trisomy 13 individuals, respectively, required hospital admission for specialized dental care. Responses indicated the presence of excessive plaque and tooth decay across the groups with a higher incidence for individuals with trisomy 13. Although not the primary form of intake, over half of the individuals received oral feedings. Implications for dental care and management are provided along with the need for additional research to confirm or disconfirm this study’s findings.

2015
Bruns, D. A. (2015). Developmental status of 22 cases with trisomy 18 and eight cases with trisomy 13: Implications and recommendations. American Journal of Medical Genetics Part A, 167(8), 1807-1815. DOI: 10.1002/ajmg.a.37102

Trisomy 18 and trisomy 13 are conditions often referred to as “incompatible with life” or “lethal anomalies.” If there is long-term survival, the outlook is considered “grim.” Developmental status is presumed to be minimal. Yet, Baty et al. [1994; 49:189–194] described a variety of developmental skills in their sample. An additional 22 children with trisomy18 and eight with trisomy 13 are described here. A range of developmental skills is noted with strengths in the language and communication, gross and fine motor and social-emotional domains including indicating preferences, exploration of objects and a range of voluntary mobility. These results serve to expand the knowledge base on developmental status for these groups and advance the need to further explore developmental abilities rather than focus on deficits. Avenues for future research, implications, and recommendations are provided.

Bruns, D. A. & * Campbell, E. (2015). Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status. American Journal of Medical Genetics Part A, 167(5), 997-1007. DOI: 10.1002/ajmg.a.36977

Limited literature exists on children and adults diagnosed with the mosaic form of trisomy 9. Data from the Tracking Rare Incidence Syndromes (TRIS) project has provided physical characteristics and medical conditions for 14 individuals. This article
provides TRIS Survey results of 25 additional cases at two data points (birth and survey completion) as well as developmental status. Results confirmed a number of phenotypic features and medical conditions. In addition, a number of cardiac anomalies
were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a range in functioning level up to skills in the 36 and 48-month range. Strengths were also noted across
the sample in language and communication, fine motor and social-emotional development. Implications for professionals caring for children with this genetic condition are offered.

2014

Ancell, K. S. & Bruns, D. A. (2014). Maternal and paternal age at pregnancy for low incidence trisomy groups: Preliminary Findings and implications. Journal of Genetic Disorders & Genetic Reports, 3(2). DOI: 10.4172/2327-5790.1000115

A number of studies have found a correlation between later maternal age and increased chances for conception of children with trisomy conditions while other studies have not. This inconsistency, along with collecting data on paternal age, deserves examination. The purpose of the present study is to examine maternal and paternal age at pregnancy related to children diagnosed with trisomy18, trisomy 13, and trisomy 9 mosaics. Results from 287 mothers and 285 fathers found that the majority of mothers were under the age of 35 (58.9% total). Paternal age closely mirrored mother’s age with 54.7% of fathers under the age of 35. Implications for additional research and for healthcare professionals including genetic counselors working in clinical settings are provided.

Bruns, D. A. & Campbell, E. (2014). Nine children over the age of one year with full trisomy 13: A case series describing medical conditions. American Journal of Medical Genetics Part A, 164A(12), 2987-2995.DOI: 10.1002/ajmg.a.36689

Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790–793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional research is needed to further determine what contributes to longevity and implications for treatment for presenting medical conditions. The purpose of the present study is to report on presenting medical conditions and the presence or absence of the specific conditions (age at survey completion). Data on nine survivors (seven female, two male) with trisomy 13 indicated mean gestational age of approximately 36 weeks, birth weight ranging from 1100 to 3290 g and mean length of 45.3 cm. Length of hospital stay after birth varied. The majority of infants presented with well-known physical characteristics. Medical conditions and their treatment varied at birth and at survey completion. Notably, several infants' cardiac anomalies resolved without surgical intervention. Surgeries were provided for a range of conditions including gastrostomy tube placement to address feeding issues and removal of intestinal blockage. There were no reports of holoprosencephaly. Implications and recommendations are provided.

Bruns, D. A. & Campbell, E. (2014). Twenty-two long-term survivors with full trisomy 18: Presenting and current medical conditions. American Journal of Medical Genetics Part A. DOI: 10.1002/ajmg.a.36318 
The purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical conditions identified at birth and at the time of survey completion. Data indicate similar birth characteristics to other studies and presence of syndrome related medical conditions including cardiac conditions, use of a variety of feeding methods, apnea, respiratory difficulties, and kidney issues. Associated interventions, sometimes considered “aggressive” or “intensive” treatments including cardiac surgeries were noted in the sample. Implications for treatment are provided and the need for additional research with this clinical subgroup is needed.

Bruns, D. A. (2014). Caring for an infant with trisomy 18: A case study and guidelines.     Clinical Nursing Studies, 2(1), 30-36. DOI: 10.5430/cns.v2n1p30
Much of the literature describes the prognosis for infants with full trisomy 18 as bleak. The case study offered here provides an overview of an infant with this diagnosis who lived for 88.5 days in a Level III neonatal intensive care unit. Care decisions (medical and basic care) and their outcomes are described along with implications for care for infants with a diagnosis often characterized as incompatible with life. The need for information about treatment options and collaboration among an infant’s medical team is emphasized.

2013
Bruns, D. A. & Springer, S. A. (2013). Feeding changes in children with trisomy 18:            Longitudinal data on primary feeding method and reflux identification and    treatment.Topics in Clinical Nutrition, 28(4), 324-334. DOI:   10.1097/01.TIN.0000437408.58941.d4 
Research indicates that approximately 40% to 70% of children with disabilities are identified and treated for feeding difficulties such as reflux. The available literature on children with trisomy 18 does not describe feeding needs or treatment. The results described here address primary feeding method along with identification and longitudinal treatment of gastroesophageal reflux in 10 children with trisomy 18. Data indicate videofluoroscopic swallowing study as the primary diagnostic procedure and treatment with medication as largely effective. The majority of the sample also moved to tube feedings to address feeding difficulties. It is hoped that this information is an initial step to further understanding the nutritional needs of this unique population. Implications for practice and a need for further research are recommended.

Bruns, D. A. (2013). Erring on the side of life: Children with rare trisomy conditions,         medical interventions and quality of life. Journal of Genetic Disorders and Genetic             Reports. DOI: 10.4172/2324-9331.1000103
The prevailing viewpoint on children with rare trisomy conditions such as trisomy 18 (t18) and trisomy 13 (t13) is almost uniformly negative. Yet, case studies offer information about long-term survivors. What is missing in the discussion is an unbiased examination of surviving children within the context of necessary, rather than “aggressive”, medical interventions and overall quality of life. A move beyond palliative or comfort care must be an option for this population. There must be a move toward valuation of life and corresponding provision of treatment and examination of developmental gains rather than limited intervention or palliative care for infants with lethal fetal abnormalities. This article presents a call to examine the individual child rather than decision making by diagnosis framed by recommendations from the Convention on the Rights of the Child (CRC) and Convention on the Rights of Persons with Disabilities (CRPD) Medical professionals and parents must work together to ensure medical needs are met and a positive quality of life can be achieved.