Hidden on the X: Psychosocial Implications of Ornithine Transcarbamylase Deficiency in Female Carriers

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dc.contributor.advisor Tsipis, Judith
dc.contributor.author Thompson, Chelsea Anne
dc.date.accessioned 2016-03-14T15:04:59Z
dc.date.available 2016-03-14T15:04:59Z
dc.date.issued 2016
dc.identifier.uri http://hdl.handle.net/10192/31814
dc.description.abstract Ornithine transcarbamylase deficiency (OTCD) is an inborn error of metabolism and the most common urea cycle disorder. Affected individuals may experience hyperammonemia, which can be associated with headaches, disorientation and nausea. Sustained hyperammonemia can cause neurodevelopmental disability, coma, and even death. OTCD is an X-linked disorder that affects both males and females with a spectrum of severity. Males may present with hyperammonemia as an infant while others develop symptoms later in life. Female carriers may or may not ever have symptoms, and many learn of their carrier status with the birth of an affected infant. Our study aimed to identify the specific needs and concerns of women who are known to be OTCD carriers and to learn how they were initially diagnosed. In this study we used an anonymous online survey with quantitative and qualitative questions. We recruited female OTCD carriers who were 18 years of age or older through the National Urea Cycle Disorders Foundation (NUCDF). Thirty-four women completed the survey. We found that most participants were blindsided by their OTCD carrier diagnosis, and that in 70.6% of respondents, the diagnosis followed the illness or death of an affected child. Our respondents have had many misconceptions about the diagnosis, the genetics of OTCD, and the risks associated with it. Our study further demonstrates that OTCD carriers have unique emotional and physical challenges, and would benefit from additional resources and support from genetic counselors and other healthcare providers, especially at the time of diagnosis. The findings of this study will promote awareness of OTCD and better inform healthcare providers of its implications for female carriers.
dc.description.sponsorship Brandeis University, Graduate School of Arts and Sciences
dc.format.mimetype application/pdf
dc.language English
dc.language.iso eng
dc.publisher Brandeis University
dc.relation.ispartofseries Brandeis University Theses and Dissertations
dc.rights Copyright by Chelsea Anne Thompson 2016
dc.subject Ornithine Transcarbamylase Deficiency
dc.subject OTC
dc.subject OTCD
dc.subject Urea Cycle Disorder
dc.subject Carrier
dc.subject Heterozygote
dc.subject Partial OTCD
dc.subject Genetic Counseling
dc.title Hidden on the X: Psychosocial Implications of Ornithine Transcarbamylase Deficiency in Female Carriers
dc.type Thesis
dc.contributor.department Graduate Program in Genetic Counseling
dc.degree.name MS
dc.degree.level Masters
dc.degree.discipline Genetic Counseling
dc.degree.grantor Brandeis University, Graduate School of Arts and Sciences

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