Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?

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dc.contributor.advisor Tsipis, Judith
dc.contributor.author Feinbaum, Rhonda
dc.date.accessioned 2018-05-14T18:01:03Z
dc.date.available 2018-05-14T18:01:03Z
dc.date.issued 2018
dc.identifier.uri http://hdl.handle.net/10192/35681
dc.description.abstract Epileptic encephalopathies are a group of severe childhood disorders characterized by seizures and cognitive and developmental deficits. Genetic testing is frequently used in the diagnosis of epileptic encephalopathy. The expanding list of epilepsy genes as well as the genetic and phenotypic heterogeneity of epileptic encephalopathy complicates the interpretation of genetic test results. The main goal of this study was to determine whether families of children with epileptic encephalopathy were provided with sufficient information to understand their child’s genetic test results and, if not, identify ways to improve their experience. This online survey asked parents and guardians of children with epileptic encephalopathy about their experience with genetic testing, the information provided pre-test and at the return of results, their understanding of the information, and what information would improve the genetic testing experience. In this retrospective study, respondents indicated a high level of perceived understanding of genetic test results (average 4.26 out of 5, SD=0.79, n=64). At the time genetic test results were returned, only 32.8% recalled receiving online information to better understand their child’s genetic test results and only 18.8% were provided with ways to contact other families (n=64). Respondents reported that these information sources were useful in learning about their child’s diagnosis. Thus, information that patient’s families need and want is frequently not given to them by health care professionals at the results return session. This study suggests that a concerted effort by health care professionals to offer comprehensive information and resources in the context of an ongoing dialogue with patient’s families would improve their understanding of genetic testing for epileptic encephalopathy.
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 Rhonda L. Feinbaum 2018
dc.subject epileptic encephalopathy
dc.subject pediatric epilepsy
dc.subject genetic testing
dc.subject parent experience
dc.subject genetic counselor
dc.subject understanding
dc.subject family
dc.title Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?
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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