ELIZABETH SENGSTOCK

CAPSTONE

Capstone Project Committee: Sat Gupta, Ph.D.; Suresh Nagappan, M.D.; Pamela Reitnauer, M.D., Ph.D.; Randi Stewart, M.S., CGC

Background: One study has estimated that children with underlying genetic conditions make up 71% of hospital admissions (McCandless, Brunger, & Cassidy 2004). The primary acute diagnoses on admission for children with underlying genetic conditions has not yet been fully studied, however, common reasons for pediatric hospital admissions are poison ingestion, foreign body ingestion, and adverse drug events. Children with underlying conditions may have features that predispose them to ingestions and thus morbidity, which is easily preventable through education and supervision (Sherrard, Tonge & Ozanne-Smith 2002).

Purpose: The goal of this study is to determine the prevalence of children with genetic conditions or developmental delays among children seen in the emergency department for ingestions including poisons, medications, and foreign bodies. Additionally, this study examined whether there were other factors such as age that seemed to make a poison ingestion more likely.

Methods: A retrospective medical record review using records from Cone Health in Greensboro, NC from January 1, 2010 through January 31, 2012 was conducted. Data regarding the type of ingestion, underlying condition, and other demographics was abstracted and analyzed.

Results: Children with underlying genetic conditions comprised 20% of children seen for ingestions during this time period and had an average age that was 6 years older at the time of ingestion than children without genetic conditions. The prevalence of children with single gene or chromosomal conditions was 1.2% which was higher than the estimated population prevalence of 0.5% by the age of 25, suggesting that there is a higher risk of ingestion in this population. The most common source of ingestion was medication for children with a genetic condition and foreign bodies for those without.

Conclusion: Ingestions are a preventable injury and parents of children with a genetic condition or developmental delay should be warned about this risk to help to lower the morbidity.

Since Graduation

After graduation, Elizabeth moved to Duluth, MN to begin her career as a general clinical genetic counselor.  While in Duluth, Elizabeth married her husband Brandon in an aquarium and adopted a yellow lab.  After a year in clinic, Elizabeth relocated to Rochester, MN to accept a lab genetic counselor job at Mayo Clinic.  Elizabeth has been working for the genomics lab at Mayo Clinic since 2015 and now works remotely from her hometown of Green Bay, WI.  Elizabeth specializes in variant interpretation and report writing for molecular metabolic and mitochondrial testing.

Elizabeth currently lives in Green Bay, WI with husband, Brandon, a 3-year-old daughter (Ellie), and 1-year-old son (Benji).