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Pediatric healthcare costs for patients with 22q11.2 deletion syndrome

BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure as...

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Autores principales: Benn, Peter, Iyengar, Sushma, Crowley, Terrence Blaine, Zackai, Elaine H., Burrows, Evanette K., Moshkevich, Solomon, McDonald‐McGinn, Donna M., Sullivan, Kathleen E., Demko, Zachary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234953/
https://www.ncbi.nlm.nih.gov/pubmed/29178641
http://dx.doi.org/10.1002/mgg3.310
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author Benn, Peter
Iyengar, Sushma
Crowley, Terrence Blaine
Zackai, Elaine H.
Burrows, Evanette K.
Moshkevich, Solomon
McDonald‐McGinn, Donna M.
Sullivan, Kathleen E.
Demko, Zachary
author_facet Benn, Peter
Iyengar, Sushma
Crowley, Terrence Blaine
Zackai, Elaine H.
Burrows, Evanette K.
Moshkevich, Solomon
McDonald‐McGinn, Donna M.
Sullivan, Kathleen E.
Demko, Zachary
author_sort Benn, Peter
collection PubMed
description BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities. Expense was based on billed medical charges extracted from the electronic medical billing system for all patients with a diagnosis of DiGeorge or velocardiofacial syndrome from 1993–2015. Expenditures included maternal prenatal care directly related to an affected pregnancy, molecular/cytogenetic diagnosis, consultations, surgery, and/or other treatment and management. Most mental health services (except inpatient), therapy related to cognitive, behavioral, speech, pharmacy, and nonmedical costs (special education, vocational, respite, lost earnings) were not included. RESULTS: Data were available for 642 patients with 50.7% diagnosed prenatally or in the first year of life. The average cost for a patient was $727,178. Costs were highest for patients ascertained prenatally ($2,599,955) or in the first year of life ($1,043,096), those with cardiac abnormalities or referred for cardiac evaluation ($751,535), and patients with low T‐cell counts ($1,382,222). CONCLUSION: This study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome.
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spelling pubmed-62349532018-11-20 Pediatric healthcare costs for patients with 22q11.2 deletion syndrome Benn, Peter Iyengar, Sushma Crowley, Terrence Blaine Zackai, Elaine H. Burrows, Evanette K. Moshkevich, Solomon McDonald‐McGinn, Donna M. Sullivan, Kathleen E. Demko, Zachary Mol Genet Genomic Med Original Articles BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities. Expense was based on billed medical charges extracted from the electronic medical billing system for all patients with a diagnosis of DiGeorge or velocardiofacial syndrome from 1993–2015. Expenditures included maternal prenatal care directly related to an affected pregnancy, molecular/cytogenetic diagnosis, consultations, surgery, and/or other treatment and management. Most mental health services (except inpatient), therapy related to cognitive, behavioral, speech, pharmacy, and nonmedical costs (special education, vocational, respite, lost earnings) were not included. RESULTS: Data were available for 642 patients with 50.7% diagnosed prenatally or in the first year of life. The average cost for a patient was $727,178. Costs were highest for patients ascertained prenatally ($2,599,955) or in the first year of life ($1,043,096), those with cardiac abnormalities or referred for cardiac evaluation ($751,535), and patients with low T‐cell counts ($1,382,222). CONCLUSION: This study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome. John Wiley and Sons Inc. 2017-08-12 /pmc/articles/PMC6234953/ /pubmed/29178641 http://dx.doi.org/10.1002/mgg3.310 Text en © 2017 Natera. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Benn, Peter
Iyengar, Sushma
Crowley, Terrence Blaine
Zackai, Elaine H.
Burrows, Evanette K.
Moshkevich, Solomon
McDonald‐McGinn, Donna M.
Sullivan, Kathleen E.
Demko, Zachary
Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title_full Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title_fullStr Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title_full_unstemmed Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title_short Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
title_sort pediatric healthcare costs for patients with 22q11.2 deletion syndrome
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234953/
https://www.ncbi.nlm.nih.gov/pubmed/29178641
http://dx.doi.org/10.1002/mgg3.310
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