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Empirical data on genetic counseling outcomes in the deaf population are needed to better serve this population. This study was an examination of genetics knowledge before and after culturally and linguistically appropriate pre-test genetic counseling in a diverse deaf adult sample. Individuals ≥18 years old with early-onset sensorineural deafness were(More)
This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both(More)
Content-based recommender systems use preference ratings and features that characterize media to model users' interests or information needs for making future recommendations. While previously developed in the music and text domains, we present an initial exploration of content-based recommendation for spoken documents using a corpus of public domain(More)
Author notes: This research was funded in part by the Laura Jane Musser Fund. Earlier portions of these data were presented at SRCD and ISSBD. We wish to thank Audrey Buchanan and David Nelson for help with an earlier version of this manuscript. A manuscript including many of these data focused on video games is currently under review. Address(More)
PSTPIP1 is a cytoskeleton-associated adaptor protein that links PEST-type phosphatases to their substrates. Mutations in PSTPIP1 cause PAPA syndrome (Pyogenic sterile Arthritis, Pyoderma gangrenosum, and Acne), an autoinflammatory disease. PSTPIP1 binds to pyrin and mutations in pyrin result in familial Mediterranean fever (FMF), a related autoinflammatory(More)
Limited data suggest that enhanced self-knowledge from genetic information related to non-medical traits can have a positive impact on psychological well-being. Deaf individuals undertake genetic testing for deaf genes to increase self-knowledge. Because deafness is considered a non-medical trait by many individuals, we hypothesized that deaf individuals(More)
Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary’s Advisory Committee on Heritable Disorders in Newborn and Children (SACHDNC), which was recently re-chartered as the Discretionary Advisory Committee on(More)
Improved compliance with pharmacotherapy was achieved in treating Hispanic outpatients with psychotic disorders when recognition of culturally based differences between patients and psychiatrists led to modifications in prescribing practices. Unacculturated Hispanic outpatients experienced akathisia as an increase in "nerviosismo." Addressing this issue, as(More)
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