Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome

Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome

Bibliographic Details
Main Author: Poggemeier, Paige A.
Language:English
Published: University of Cincinnati / OhioLINK 2019
Subjects:
Genetics
Teacher Collins Syndrome
TCS
Genetic services
parental impressions
parental attitudes
craniofacial
Online Access:http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554214679109186
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spelling ndltd-OhioLink-oai-etd.ohiolink.edu-ucin15542146791091862021-08-03T07:09:58Z Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome Poggemeier, Paige A. Genetics Teacher Collins Syndrome TCS Genetic services parental impressions parental attitudes craniofacial Treacher Collins Syndrome (TCS) is a craniofacial disorder that can follow both autosomal dominant and recessive inheritance patterns. Genetic testing is recommended for individuals with at least two clinical features, but little is known about the distribution of genetic services, meaning genetic testing and/or genetic counseling, for individuals with TCS. This study sought to determine the frequency at which genetic services were offered to children with a clinical diagnosis of TCS. Additionally, this study assessed parental impressions of these genetic services via an online survey. Findings from the current study indicate that the majority of children were referred to genetics because of their clinical diagnosis of TCS. Those seen by genetics were more likely to be offered and pursue confirmatory genetic testing related to their TCS diagnosis. The majority of parents would recommend genetic testing to individuals with a clinical diagnosis of TCS, which suggests that there is a benefit in referring those with clinical features or a clinical diagnosis of TCS to a genetics provider. 2019-07-25 English text University of Cincinnati / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554214679109186 http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554214679109186 unrestricted This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws.
collection NDLTD
language English
sources NDLTD
topic Genetics
Teacher Collins Syndrome
TCS
Genetic services
parental impressions
parental attitudes
craniofacial
spellingShingle Genetics
Teacher Collins Syndrome
TCS
Genetic services
parental impressions
parental attitudes
craniofacial
Poggemeier, Paige A.
Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
author Poggemeier, Paige A.
author_facet Poggemeier, Paige A.
author_sort Poggemeier, Paige A.
title Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
title_short Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
title_full Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
title_fullStr Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
title_full_unstemmed Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome
title_sort parental impressions of genetic services for individuals with treacher collins syndrome
publisher University of Cincinnati / OhioLINK
publishDate 2019
url http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554214679109186
work_keys_str_mv AT poggemeierpaigea parentalimpressionsofgeneticservicesforindividualswithtreachercollinssyndrome
_version_ 1719455382009544704

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