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

Reliability And Validity Of The Hd-Pro-Triadtm, A Health-Related Quality Of Life Measure Designed To Assess The Symptom Triad Of Huntington's Disease., Nicholas R Boileau, Julie C Stout, Janes S Paulsen, David Cella, Michael K Mccormack, Martha A Nance, Samuel Frank, Jin-Shei Lai, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable.

OBJECTIVES: The current study evaluates the reliability and validity of the HD-PRO-TRIADTM in a well-characterized sample of individuals with HD.

METHODS: Four-hundred and eighty-two individuals with HD (n = 192 prodromal, n = 193 early, and n …

Hdqlife: Development And Assessment Of Health-Related Quality Of Life In Huntington Disease (Hd), N E Carlozzi, S G Schilling, J-S Lai, J S Paulsen, E A Hahn, J S Perlmutter, C A Ross, N R Downing, A L Kratz, M K Mccormack, M A Nance, K A Quaid, J C Stout, R C Gershon, R E Ready, J A Miner, S K Barton, S L Perlman, S M Rao, S Frank, I Shoulson, H Marin, M D Geschwind, P Dayalu, S M Goodnight, D Cella

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Huntington disease (HD) is a chronic, debilitating genetic disease that affects physical, emotional, cognitive, and social health. Existing patient-reported outcomes (PROs) of health-related quality of life (HRQOL) used in HD are neither comprehensive, nor do they adequately account for clinically meaningful changes in function. While new PROs examining HRQOL (i.e., Neuro-QoL-Quality of Life in Neurological Disorders and PROMIS-Patient-Reported Outcomes Measurement Information System) offer solutions to many of these shortcomings, they do not include HD-specific content, nor have they been validated in HD. HDQLIFE addresses this by validating 12 PROMIS/Neuro-QoL domains in individuals with HD and by using established PROMIS …

Time Of Year Affects Surgical Outcome Of Pediatric Congenital Heart Disease, Krystin Sinclair

Honors Projects in Science and Technology

Approximately 35,000 children are born in the US each year with Congenital Heart Disease (CHD). Surgical timing for many of these conditions is elective, and the distribution of surgical cases, therefore, varies with time of year. The hypothesis of this project is that time of the year for surgery is associated with mortality, length of hospital stay (LOS), and total hospital costs. A retrospective, cohort study was performed, using the Pediatric Health Information Systems (PHIS) Database to investigate these relationships.

Retrospective Frames Of Disability: Themes Derived From Parents Of Children Who Grew Up With Congenital Disability, Sheryl L. Holt

Theses and Dissertations--Rehabilitation Sciences

Introduction: For children born with physical disabilities, the perspectives and actions of their parents prove significant to their childhood developmental outcomes clinically, educationally, socially, and with regard to community participation. The lived world and perceptions of parents who have children with disabilities however is not well investigated. This study sought to understand parents’ framing of theirs and their children’s disability experiences. Family systems together with family systems intervention models, and disability theory were used to provide structure to interview instrumentation and subsequent analysis. Child-centered and ecologic influences were also used to track the transformative processes over time that infuses parental …

Why?-Abetes: Understanding Diabetes Management In Rural Kwa-Zulu Natal, South Africa, Kyra Wicklund

Independent Study Project (ISP) Collection

This project will investigate how diabetics, family members, and community members involved with diabetes relate to the disease and its continued management in a rural area of KwaZulu-Natal, South Africa. Although diabetes is an issue worldwide, it has been largely over-looked in sub-Saharan Africa. This study utilized interviews with diabetics, family members of diabetics, and clinic staff as well as personal observations to reveal the strategies, challenges, and stories of diabetes in this area. Conversations with local health experts verified that diabetes is a major issue in the area of this study. Topics of interest were support structures present; education; …

Supporting Families With Congenital Adrenal Hyperplasia: Encouraging Whole Family Health, Kathryn A. Kraft

Antioch University Dissertations & Theses

In this dissertation, I discuss the medical and psychological needs of families with children with Congenital Adrenal Hyperplasia (CAH). Due to these needs, I have designed and described a program of social support and psychoeducation to be offered to parents and families. Specifically, I discuss the difficulty that parents have when finding out that their child has CAH, the emotional toll this takes on a parent, on their relationship, and on their family. Using a Family Systems Illness Model, I designed a program that takes into account family functioning, organization, structure, and communication when determining what would be most helpful …

Spirituality And Organised Religion In Supporting Parents Of Children With Down Syndrome And Intellectual Disability, Divia Pillay

Theses : Honours

Background: Raising a child with an intellectual disability can present parents with many challenges. Factors that have been demonstrated to positively impact on the mental and physical health of parents of children with an intellectual disability include greater clinical, family and social supports. One avenue of support that has been rarely explored is the role of spirituality and organised religion in supporting parents of children with an intellectual disability. Aim: The aim of this literature review was to investigate the role of spirituality and organised religion in the lives of parents of children with intellectual disability, specifically Down syndrome. Methods: …

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 …

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 …

The Impact Of Being Born With Cleft And Cleft Reparative Surgery On Overall Health And Speech Outcomes, Khatansuudal Evsanaa

Master's Theses

Orofacial cleft is one of the most common and treatable birth defects in the world. If left untreated, orofacial cleft can impair normal speech development, growth, and could lead to a number of health consequences later in life. The main motivation of the study is to measure the impact of being born with cleft and the cleft reparative surgery on overall speech and health cleft for teenagers in India using difference-in-differences approach along with household fixed effects method. An overall health outcome was measured using height, weight, grip strength and BMI, and the speech acceptability was measured using a “Universal …

Family And Child Psychosocial Functioning Of Infant Heart Transplant Recipients, Kimberly R. Freeman

Loma Linda University Electronic Theses, Dissertations & Projects

With the advancement of medical procedures, heart transplantation has become a viable alternative for infants born with congenital or acquired heart disease. Although these children are thought to experience much improvement in their overall physical functioning post-transplantation, the long-term psychological functioning of these children and their families is currently unknown. This study examines the long-term family functioning and psychosocial development of infant heart transplant recipients in comparison to children with congenital heart disease (CHD) and non-clinical control children. Results indicate that infant heart transplant recipients and their families experience fewer overall problems as compared to the CHD group, and more …