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

Parent- Versus Child-Reported Functional Health Status After The Fontan Procedure., Linda M. Lambert, L Luann Minich, Jane W. Newburger, Minmin Lu, Victoria L. Pemberton, Ellen A. Mcgrath, Andrew M. Atz, Mingfen Xu, Elizabeth Radojewski, Darlene Servedio, Brian W. Mccrindle, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: We sought to compare perceptions of functional health status between children who had undergone a Fontan procedure and their parents.

METHODS: Fontan procedure survivors 10 to 18 years of age were included in the study if the child completed the Child Health Questionnaire (CHQ) and the parent completed the parent form to assess the child's functional health status. Comparisons were made between raw domain scores for the parent- and child-completed CHQs.

RESULTS: Between March 2003 and April 2004, 1078 Fontan survivors were screened. Of the 546 eligible and consented patients, 354 were 10-18 years of age and 328 parent/child …

Chromosomal Anomalies Influence Parental Treatment Decisions In Relation To Prenatally Diagnosed Congenital Heart Disease., Sinai C. Zyblewski, Elizabeth G. Hill, Girish S. Shirali, Andrew Atz, Geoffrey Forbus, Javier Gonzalez, Anthony Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental intent to treat: maternal age, race, insurance status, obstetric history, fetal gender, univentricular versus biventricular cardiac physiology, and fetal chromosomal abnormality. Uni- and multivariable logistic regression analyses were performed. In the review, 252 consecutive cases of prenatally diagnosed CHD were identified. Of these, 204 women pursued full medical treatment, whereas …

Comparison Of Echocardiographic And Cardiac Magnetic Resonance Imaging Measurements Of Functional Single Ventricular Volumes, Mass, And Ejection Fraction (From The Pediatric Heart Network Fontan Cross-Sectional Study)., Renee Margossian, Marcy L. Schwartz, Ashwin Prakash, Lisa Wruck, Steven D. Colan, Andrew M. Atz, Timothy J. Bradley, Mark A. Fogel, Lynne M. Hurwitz, Edward Marcus, Andrew J. Powell, Beth F. Printz, Michael D. Puchalski, Jack Rychik, Girish S. Shirali, Richard Williams, Shi-Joon Yoo, Tal Geva, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Assessment of the size and function of a functional single ventricle (FSV) is a key element in the management of patients after the Fontan procedure. Measurement variability of ventricular mass, volume, and ejection fraction (EF) among observers by echocardiography and cardiac magnetic resonance imaging (CMR) and their reproducibility among readers in these patients have not been described. From the 546 patients enrolled in the Pediatric Heart Network Fontan Cross-Sectional Study (mean age 11.9 +/- 3.4 years), 100 echocardiograms and 50 CMR studies were assessed for measurement reproducibility; 124 subjects with paired studies were selected for comparison between modalities. Interobserver agreement …

Functional State Following The Fontan Procedure., Ismee A. Williams, Lynn A. Sleeper, Steven D. Colan, Minmin Lu, Elizabeth A. Stephenson, Jane W. Newburger, Welton M. Gersony, Meryl S. Cohen, James F. Cnota, Andrew M. Atz, Richard V. Williams, Renee Margossian, Andrew J. Powell, Mario P. Stylianou, Daphne T. Hsu, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite improvements in outcomes after completion of the Fontan circulation, long-term functional state varies. We sought to identify pre- and postoperative characteristics associated with overall function.

METHODS AND RESULTS: We analyzed data from 476 survivors with the Fontan circulation enrolled in the Pediatric Heart Network Fontan Cross-sectional Study. Mean age at creation of the Fontan circulation was 3.4 plus or minus 2.1 years, with a range from 0.7 to 17.5 years, and time since completion was 8.7 plus or minus 3.4 years, the range being from 1.1 to 17.3 years. We calculated a functional score for the survivors by …

Universal Screening For Extracardiac Abnormalities In Neonates With Congenital Heart Disease., Javier H. Gonzalez, Girish S. Shirali, Andrew M. Atz, Sarah N. Taylor, Geoffrey A. Forbus, Sinai C. Zyblewski, Anthony M. Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% …

Prevention Of Mother-To-Child Transmission (Pmtct) Of Hiv In The Sub-Saharan Africa Region With A Focus On Uganda, Emily K. Franks

Senior Honors Theses

With the rise of the HIV/AIDS epidemic in the past thirty years, people of all ages, infants to elderly alike, all over the world, suffer from its adverse effects. Even an unborn baby in-utero can contract this virulent infection by means of mother-to-child transmission (MTCT) (Sweeney, 2005). Infants and children diseased in this way comprise 90% of the estimated 800,000 new cases of HIV in children seen each year, but the region hit hardest, however, is Sub-Saharan Africa, with the country of Uganda historically having the highest incident rate for a time (Stringer, E.M., et al. 2008). Therefore, the purpose …

When Old-Order Amish Meet New Order Science: Genetic Maladies And The Amish Dilemma, Kelley Downey

Undergraduate Research Conference

The Old World Amish, an Anabaptist Christian domination in the United States and Canada are know for their plain dress, avoidance of modern technology, and separation from the mainstream society.

A traditional agricultural religious group, the Old World Amish maintains isolation from the rest of the community. Financially well-off, they are homogeneous on education, occupation by gender, age at marriage, religion/ethnicity, and health care.

Although the Amish strongly discourage marriage between close cousins, the Lancaster Amish genealogy is described as mutational - inbreeding from multiple, remote connections rather than close consanguinity (first-cousin marriages).

Amish settlements have been identified with certain …

Rationale And Design Of A Trial Of Angiotensin-Converting Enzyme Inhibition In Infants With Single Ventricle., Daphne T. Hsu, Seema Mital, Chitra Ravishankar, Renee Margossian, Jennifer S. Li, Lynn A. Sleeper, Richard V. Williams, Jami C. Levine, Brian W. Mccrindle, Andrew M. Atz, Darlene Servedio, Lynn Mahony, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Angiotensin converting enzyme (ACE) inhibitors are known to improve clinical outcome and ventricular function in adults with heart failure. Infants with single-ventricle physiology show abnormalities in ventricular function as well as poor growth. The ability of an ACE inhibitor to preserve ventricular function and improve growth in these infants is unknown.

METHODS: The Pediatric Heart Network designed a randomized, double-blind trial to compare outcomes in infants with single-ventricle physiology receiving enalapril or placebo. Neonates < or =45 days old were eligible. The primary outcome is weight-for-age Z-score at 14 months of age. Secondary outcomes include other measures of somatic growth, laboratory and functional measures of heart failure, developmental indices, measures of ventricular size and function, and the relationship of the renin-angiotensin-aldosterone system genotype to the response to enalapril. The incidence and spectrum of adverse events will also be compared between treatment groups.

RESULTS: A total of 1,245 neonates were screened and 533 (43%) were eligible. The consent rate was 43%; 230 subjects were enrolled. Parental reluctance to …

Sequential Segmental Analysis., Robert H. Anderson, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Children With Cleft Lips And/Or Palates In Early Childhood Classrooms : Overcoming Obstacles And Misconceptions, Angel Simons

Graduate Research Papers

One in 750 live births results in a baby born with a cleft lip and/or palate (CLP), making it the second most common birth impairment in the United States (Speltz, Endrig, Fisher, & Mason, 1997). Being born with a cleft lip and/or palate brings on many obstacles in a child's life.

Educators can help children born with cleft lip and/or palate by knowing: are there any correlations between how a child born with a cleft is treated by teachers and parents when it comes to teacher and/or parent expectations and perceptions; do children with clefts have distinct common personality or …

Powered Mobility As An Intervention For Children With Cerebral Palsy: A Systematic Review ; The Smart Wheelchair: Is It An Appropriate Mobility Training Tool For Children With Cerebral Palsy?, Sarah Mcgarry

Theses : Honours

Purpose. To systematically review the effectiveness of powered mobility training interventions in improving driving skills and psychosocial outcomes in children with cerebral palsy. Method. Electronic searches of CINAHL, Medline and Meditext were conducted. Using two assessment tools, two independent reviewers assessed the quality of selected studies and level of evidence. Studies were included if a powered mobility training intervention was described, at least one participant had cerebral palsy and if the majority of participants were aged between 18 months and 18 years old. A narrative analysis was conducted. Results. Seven articles were eligible for inclusion. Intervention protocols included computer simulator …

An Analysis Of Use Of Equipment And Respite Services By Families With A Daughter With Rett Syndrome, Anna Urbanowicz

Theses : Honours

Purpose: This literature review examines the body of knowledge concerning the use of respite services and assistive products and technology, child and family characteristics, and parental well-being among families with a daughter with Rett syndrome or with a child with another developmental disability. Method: Literature published in the time period 1983-2009 was searched. Studies were included in this review if they reported use of respite services or assistive products and technology among families with a daughter with Rett syndrome or with a child with another developmental disability. Child and family characteristics and parental well-being were also considered. Results and conclusions: …

Medical Conditions In Children With Down Syndrome: A Literature Review ; Changes Over Time In Medical Conditions And Service Use By Children With Down Syndrome, Kelly Thomas

Theses : Honours

Background: Children with Down syndrome experience an array of medical conditions and health care problems. Although there have been vast improvements in the medical management of these conditions, they still significantly impact on quality of life for families and children with Down syndrome. However, despite the magnitude of this problem limited literature has described the overall health status of children with Down syndrome. Aim: The purpose of this review was to describe the medical conditions commonly experienced by children with Down syndrome and to consider the clinical implications of this knowledge. Methods: Databases Medline, CINHAL and PsychINFO were electronically searched …

Leisure Participation For School-Aged Children With Down Syndrome, Alinta Oates

Theses : Honours

Background. A review of existing literature is necessary to determine the future directions required in research exploring friendships and leisure for school-aged children with Down syndrome. Purpose. This review examines research published in peer-reviewed journals describing participation in friendships and leisure for school-aged children with Down syndrome. The review is guided by the theoretical framework of the World Health Organisation's International Classification of Functioning, Disability and Health (ICF ). Methods. Electronic searches of PubMed, PsychInfo, CINAHL, SportsDiscus and ERIC were conducted using the key terms Down syndrome, leisure and friendships. Keywords identified while using the ICF framework to explore factors …

Gross Motor Abilities And Interventions In Girls And Women With Rett Syndrome: A Literature Review ; Longitudinal Video Analysis Of Gross Motor Abilities Of Girls And Women With Rett Syndrome, Kitty-Rose R. Foley

Theses : Honours

Objective: To explore research relevant to an understanding of gross motor abilities and highlight possible directions for gross motor intervention in girls and women with Rett syndrome. A secondary objective was to describe mouse model research which has the potential to add to an understanding of gross motor abilities in this population. Methods: Electronic searches of five databases, manual searches of an external resource library and manual searches of reference lists were undertaken. The key words imputed during these searches included; mobility, Rett syndrome, functioning, mouse model, therapy and intervention. Search terms were truncated, exploded and adjusted to achieve optimum …