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Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results

To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (I...

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Autores principales: Wintergerst, Kupper A., Eugster, Erica, Andruszewski, Karen, Kleyn, Mary, Vanderburg, Nancy, Sockalosky, Joe, Menon, Ram, Linard, Sharon, Kingery, Suzanne, Rose, Susan R., Moore, Julie, Gembel, Gina, Gorman, Lisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548898/
https://www.ncbi.nlm.nih.gov/pubmed/33072941
http://dx.doi.org/10.3390/ijns4020018
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author Wintergerst, Kupper A.
Eugster, Erica
Andruszewski, Karen
Kleyn, Mary
Vanderburg, Nancy
Sockalosky, Joe
Menon, Ram
Linard, Sharon
Kingery, Suzanne
Rose, Susan R.
Moore, Julie
Gembel, Gina
Gorman, Lisa
author_facet Wintergerst, Kupper A.
Eugster, Erica
Andruszewski, Karen
Kleyn, Mary
Vanderburg, Nancy
Sockalosky, Joe
Menon, Ram
Linard, Sharon
Kingery, Suzanne
Rose, Susan R.
Moore, Julie
Gembel, Gina
Gorman, Lisa
author_sort Wintergerst, Kupper A.
collection PubMed
description To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH.
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spelling pubmed-75488982020-10-15 Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results Wintergerst, Kupper A. Eugster, Erica Andruszewski, Karen Kleyn, Mary Vanderburg, Nancy Sockalosky, Joe Menon, Ram Linard, Sharon Kingery, Suzanne Rose, Susan R. Moore, Julie Gembel, Gina Gorman, Lisa Int J Neonatal Screen Article To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH. MDPI 2018-06-17 /pmc/articles/PMC7548898/ /pubmed/33072941 http://dx.doi.org/10.3390/ijns4020018 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Wintergerst, Kupper A.
Eugster, Erica
Andruszewski, Karen
Kleyn, Mary
Vanderburg, Nancy
Sockalosky, Joe
Menon, Ram
Linard, Sharon
Kingery, Suzanne
Rose, Susan R.
Moore, Julie
Gembel, Gina
Gorman, Lisa
Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title_full Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title_fullStr Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title_full_unstemmed Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title_short Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
title_sort congenital hypothyroidism 3-year follow-up project: region 4 midwest genetics collaborative results
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548898/
https://www.ncbi.nlm.nih.gov/pubmed/33072941
http://dx.doi.org/10.3390/ijns4020018
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