Investigating Genetic Counselors' Experiences with Legius Syndrome

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dc.contributor.advisor Schneider, Gretchen
dc.contributor.author Robart, Sarah
dc.date.accessioned 2012-06-11T19:03:41Z
dc.date.available 2012-06-11T19:03:41Z
dc.date.issued 2012
dc.identifier.uri http://hdl.handle.net/10192/68
dc.description.abstract Legius syndrome (LS), caused by mutations in SPRED1, is a recently identified condition characterized primarily by multiple café-au-lait macules and skin fold freckling, findings that are also among the diagnostic criteria for Neurofibromatosis type 1 (NF1). Previously, many individuals presenting only with these cutaneous manifestations were diagnosed clinically with NF1 until molecular studies identified SPRED1 mutations in them. The aim of this study was to investigate the clinical experiences of genetic counselors with this newly identified patient population. We used an anonymous, online survey to collect information regarding health care providers’ experiences with LS, their discussions with patients describing the genetics and clinical impact of the condition, and perceived patient reactions to a change in diagnosis from NF1 to LS. A total of 175 individuals, primarily genetic counselors, responded, of whom 19 had seen a patient with a molecular diagnosis of the condition and 50 had discussed LS as a potential diagnosis. There was inter- and intra-clinic variability of clinical versus molecular methods of diagnosis, as well as clinical management after a SPRED1 mutation is identified. The majority of participants decrease patient management to annual physical exams after the change in diagnosis; however, some follow the patient as if he or she had NF1. Participants did not frequently discuss reproductive options or some of the rarer but serious reported manifestations of LS. Nearly half of participants did not provide patients with resources, likely because few currently exist. When transitioning diagnoses from clinical NF1 to molecular LS, participants reported that patients reacted primarily with relief at the comparatively milder phenotype, while the lack of longitudinal data caused frustration and anxiety in some. These findings suggest a lack of consistency in genetic counseling and clinical management of patients with Legius syndrome which may impact the care of this emerging patient population.
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 Sarah C. Robart 2012
dc.subject Legius syndrome
dc.subject SPRED1
dc.subject Neurofibromatosis type 1
dc.subject NF1
dc.subject genetic counselors
dc.subject skin fold freckling
dc.subject café-au-lait macules
dc.title Investigating Genetic Counselors' Experiences with Legius Syndrome
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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