Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Anticipation, Accompaniment, And A Good Death In Perinatal Care., Bryanna S. Moore, Brian S. Carter, Bryan Beaven, Katie House, Joel House

Manuscripts, Articles, Book Chapters and Other Papers

The ethics of perinatal care, and the experiences of families who receive such care, remains a nascent area of inquiry. It can be hard to see how existing "good death" constructs apply to the experiences of fetal patients and their families. In this paper, we explore two themes raised by a case at our fetal health center: anticipation and accompaniment. In this case, a mother presented to our fetal health center; her unborn son, our fetal patient, was diagnosed with life-threatening hypoplastic left heart syndrome and endocardial fibroelastosis. The parents were told that their son's life expectancy, upon birth, was …

Pharmacometabolomics Of Respiratory Phenotypic Response To Dexamethasone In Preterm Infants At Risk For Bronchopulmonary Dysplasia., Tamorah R. Lewis Md Phd, Prabhakar Chalise, Cheri Gauldin, William E. Truog

Manuscripts, Articles, Book Chapters and Other Papers

A prospective cohort study was performed in preterm infants less than 32 weeks gestation at birth who were treated with dexamethasone for developing or established bronchopulmonary dysplasia (BPD). Respiratory phenotype (Respiratory Severity Score (RSS)), serum, and urine metabolomics were assessed before and after treatment. Ten infants provided nine matched serum and nine matched urine samples. There was a significant decrease in RSS with steroid treatment. Serum gluconic acid had the largest median fold change (140 times decreased, P = 0.008). In metabolite set enrichment analysis, in both serum and urine, the urea cycle, ammonia recycling, and malate-aspartate shuttle pathways were …

Safe Sleep In The Nicu, Ashley Mirabile, Barb Haney, Dianne Wilderson, Beckie Palmer, Ashley Domsch, Eugenia K. Pallotto

Posters

Goal: To evaluate a staff education program on approach to improve in the rate of eligible NICU infants in safe sleep in a busy 84-bed level IV NICU.

Outcome Measures; Improve safe sleep compliance for eligible patients to 90% or greater by December 2019.

Process Measures: Audits from bedside RNs showing compliance with safe sleep.

Planned Intervention: In December of 2018 a multidisciplinary work group brainstormed and implemented best practice safe sleep education for staff and parents. September 2019 a Safe Sleep Educational Toolkit was made available for staff.

Results: Safe Sleep compliance has gone from 53% to 90% in …

The Kanga-Croo: Nurse Resident Champions Creating Momentum For Improvement, Brett Butler, Jacob Burden, Carly Creekmore, Blair Griffin, Taylor Godemann, Taylor Hagen, Theresa Koelling, Mary Anne Kucera, Halle Magid, Makenna Miller, Monica Page, Mary Riffel, Madison Stebbins, Sarah Stokes, Skylar Suppes

Posters

Topic Summary:

Kangaroo Care (skin to skin care) is a parent-led, evidence-based intervention which improves outcomes in neonatal patients including: decreased apnea, increased weight gain, increased parent satisfaction and decreased length of stay.

Results:

Nurse resident team interventions to support parent engagement and remove barriers to Kangaroo Care (KC) through iterative PDSA cycles from January 2018 to July 2019 yielded positive results within a subset of ICN patients.

Safe To Sleep In The Icn, Megan Kelly, Alexandra (Lexi) Van Noy, Molly Kruse, Megan English, Hannah Culbertson, Brianne Truitt, Ziryan Salihparkhy, Jenny Mckee, Brecklyn Findley

Posters

The CDC states that 1,545 infants passed away from SIDS in 2014. Safe sleep includes supine, in a crib, head of bed flat, firm sleep surface, tightly fitted sheet, no loose blankets, no toys or supplies in crib with infant. It is important for nurses to model safe sleep practices in the hospital setting. Current compliance with safe sleep in the Intensive Care Nursery is 50%.

AIM Statement:

By August 1, 2019 we want to increase the compliance of modeling safe sleep behaviors for patients who qualify for safe sleep from 50% to 90% in the Intensive Care Nursery.

Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

METHODS: Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to …

A Multifaceted Approach To Improve Quarterly Visit Rates At A Pediatric Cystic Fibrosis Care Center, Paula Capel, Jessica Banks, Micaela Mckenna, Ashley Andrews, Christopher M. Oermann

Posters

Standard quality improvement methodology was used to improve quarterly visit rates among cystic fibrosis patients at Children's Mercy Kansas City Cystic Fibrosis Center.

• A family-centered, team-based approach was adopted
• A change in culture led to sustained improvement

Improved quarterly visit rates should drive improvement in outcomes including pulmonary function and nutritional status.

Increasing Rates Of Breastmilk Use At Time Of Neonatal Intensive Care Unit (Nicu) Discharge: An Improvement Project In A Midwest Level Iv Nicu, Kathleen Hortenstine, Teresa Fulk, Stephanie Callis, Kyla Galate, Beckie Palmer

Posters

• Breast milk is the preferred food for all infants.
• The rate of breast milk use at time of discharge was below the goal of the institution.
• A gap was identified in bedside nursing education, limiting their ability to provide resources and education to mothers. Nursing involvement ensures skilled, comprehensive, and accessible breastfeeding support.
• The aim of this project is to increase breast milk rates at time of NICU discharge to 95% of eligible patients by December of 2019.

Lighting The Way To Ensure Safe Transition Home, Barb Haney, Ashley Mirabile, Dianne Wilderson, Beckie Palmer, Ashley Lewis, Cris Mills, Eugenia K. Pallotto

Posters

All aspects of discharge (education, screenings, appointments, plans and home services" must be completed and appropriately communicated prior to discharge to ensure safe transition to home.

Goal: Standardize all aspects of discharge in a large, busy 84-bed Level IV NICU with >1000 admissions/year and >300 nurses, >60 NNPs, and >25 neonatologists.

• 95% of patients with lengths of stay >3 days have all discharge planning completed prior to discharge/Parent Care Unit overnight stay

Improving Care Of The Small Baby, Beckie Palmer, Abdebayo Oshodi, Brandy Huitt, Kaylee Hurt, Pamela Kliethermes, Trudy Koons, Patricia Lanzer, Ashley Mirabile, Allyson Owen, Christian Anthony Schneider, Betsi Anderson, Steven Olsen

Posters

Hierarchy of Aims:

• Global Aim: Create a Small Baby Unit for infants admitted to our NICU that arebirth, in which 90% of our patients are admitted to F pod on day of admission, by March 2019
• Interim Aim: Staff 80% of our micropremie patients with a Small Baby Team nurse from admission until >32 weeks by May 2019.
• Sub Aim: Increase rates of developmentally appropriate care (2 person cares, kangaroo care compliance) by 50% by August 2019.

Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).

METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study via …

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

A Unique Model For Palliative Care In A Level Iv Neonatal Intensive Care Unit, Kelstan L. Ellis Do, Megan Tucker, Jennifer Linebarger

Posters

This poster describes a review of the relationship between the Fetal Health Center and the Palliative Care team as the Palliative Care Team follows the patient family from prenatal through neonatal intensive care.

Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb

Posters

Prenatal closure of myelomeningoceles for fetuses with ventricular width of greater than 15 mm at the time of intrauterine screening (19-25 weeks) has been discouraged, but little is documented regarding the details of ventricle measurement, modality, and timing. This study concludes that ultrasound and MRI provide different results in regards to fetal ventricle size. If treatment recommendations are going to be offered or withheld based on the 15 mm "rule" the method of fetal imaging must be taken into account.

Improving Nicu Referrals To The Missouri Early Intervention Program (First Steps), Luke Prest, Lauren Fenstermann, Ayman Khmour

Posters

First Steps is the statewide early intervention program in Missouri, but a review of referrals from the Truman neonatal intensive care unit revealed that only 24% of eligible patients were being referred. This poster describes efforts to increase awareness among residents and to refer all eligible patients to First Steps upon discharge.

Who Codes In The Nicu: An Analysis Of Demographics And Factors That Place Neonates At Higher/Lower Risk Of A Serious Code Event And Prognosis Post-Code, Danielle N. Gonzales, Ashley K. Sherman, Jennifer Dremann, Staci Elliott, Amelia Gute, Amber Bellinghausen, Jessica Brunkhorst, Danielle Reed

Posters

This study analyzed resuscitation events in a level IV neonatal intensive care unit from 2012-2017 to determine whether there are identifiable differences between those who have a rapid response event and those with a short or long code and determine factors post-event that may impact survival to discharge.

Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed

Posters

Acute bilirubin encephalopathy (ABE) and kernicterus spectrum disorder (KSD) have become relatively uncommon in high income countries but remain a major cause of morbidity and mortality in low- and middle-income countries. To better understand the relationship between free (Bf) and total (TB) bilirubin levels and the development of ABE and KSD we followed infants born in three large tertiary centers in northern and central Nigeria (Jos, Kano and Zaria).

Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez

Posters

Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.

Identification Of Inadvertent Azygous Vein Cannulation Using Transthoracic Echocardiography During Venoarterial Extracorporeal Membrane Oxygenation Initiation., Bethany Runkel, Jason D. Fraser, John Daniel, Karina M. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

It is well known that optimal cannula positioning during initiation of venoarterial (VA) extracorporeal membrane oxygenation (ECMO) is directly related to ECMO circuit function. Malpositioned cannulae can have deleterious effects on clinical outcomes, and inadvertent cannulation of the azygous vein during initiation of ECMO is a rare but potentially devastating complication that has been reported only a few times in the literature. Here we report a case of azygous vein cannulation in a neonate that was not identified on chest radiography but was recognized and corrected expeditiously with the use of transthoracic echocardiography.

Minimizing Unplanned Extubations In The Intensive Care Nursery, Lindsay Barrosse, Blaire Collins, Cassidy Horton, Jodie Seitzer, Brittney Hunter, Jenny Mckee

Nurse Presentations

Describes a project to ensure compliance with a standardized process for endotracheal tube management in the intensive care nursery in order to reduce the number of unplanned extubations and their consequent adverse effects.

Insulin Pump Adherence Behaviors Do Not Correlate With Glycemic Variability Among Youth With Type 1 Diabetes (T1d)., Emily Paprocki, Vincent S. Staggs, Susan Patton, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Analgesia And Sedation Medication Use In Infants With Congenital Diaphragmatic Hernia Is Associated With Adverse Outcome, Mark Weems, Theresa Grover, Robert Digeronimo, Jason Gien, Ruth Seabrook, Sarah Keene, Natalie Rintoul, Beverly Brozanski, John Daniel, Rachel Chapman, Burhan Mahmood, Yvette Johnson, Yigit Guner, Holly Hedrick, Isabella Zaniletti, Karna Murthy

Posters

This study describes the use and variation of sedation and analgesic medications as well as short-term clinical outcomes in infants with congenital diaphragmatic hernia.

A Time-Friendly, Feasible Measure Of Nutrition Knowledge In Type 1 Diabetes: The Electronic Nutrition And Carbohydrate Counting Quiz (Encq)., Arwen M. Marker, Amy E. Noser, Nicole Knecht, Mark A. Clements, Susana R. Patton

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Greater knowledge about nutrition and carbohydrate counting are associated with improved glycemic control and quality of life in youth with type 1 diabetes (T1D). However, limited assessments of nutrition and carbohydrate knowledge have been developed, and existing measures can be time-consuming, overly broad, or not conducive to routine clinical use. To fill this gap, we developed and examined the feasibility of administering the electronic Nutrition and Carbohydrate Counting Quiz (eNCQ).

METHOD: Ninety-two caregivers and 70 youth with T1D (mean age 12.5 years; mean time since diagnosis 5 years; English speaking) completed the 19-item eNCQ via tablet during a routine …

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …