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Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling

Background: Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family studies indicate that TD strongly aggregates within families and that other chronic tic disorders are biologically related such that s...

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Autores principales: Heiman, Gary A., Rispoli, Jessica, Seymour, Christine, Leckman, James F., King, Robert A., Fernandez, Thomas V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432137/
https://www.ncbi.nlm.nih.gov/pubmed/32849224
http://dx.doi.org/10.3389/fneur.2020.00770
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author Heiman, Gary A.
Rispoli, Jessica
Seymour, Christine
Leckman, James F.
King, Robert A.
Fernandez, Thomas V.
author_facet Heiman, Gary A.
Rispoli, Jessica
Seymour, Christine
Leckman, James F.
King, Robert A.
Fernandez, Thomas V.
author_sort Heiman, Gary A.
collection PubMed
description Background: Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family studies indicate that TD strongly aggregates within families and that other chronic tic disorders are biologically related such that studies typically combine them into any chronic tic disorder (CTD). Because of stigma, bullying, and comorbidity with other neuropsychiatric disorders, CTDs can severely impact the quality of life of individuals with these disorders. Objectives: The genetic architecture of CTDs is complex and heterogeneous, involving a myriad of genetic variants. Thus, providing familial recurrence risks is based on empirical recurrence risk estimates rather than genetic testing. Because empiric recurrence risks for CTDs have not been published, the purpose of this study is to calculate and report these recurrence risks estimates. Methods: Based on population prevalence and increased risk to different relatives from a large population-based family study, we calculated the empiric recurrent risk estimate for each relative type (full sibling, parents, offspring, all first-degree, and all second-degree). Results: The recurrence risk estimate for CTDs in first-degree relatives is 29.9% [95% confidence interval (CI) = 23.2–38.5%]. The risk is higher in males, 33.7% (95% CI = 26.2–43.3%), than females, 24.3% (95% CI = 18.9–31.3%). Conclusions: Given the complex, heterogeneous genetic architecture of CTDs, individuals concerned about recurrence risk should be referred to genetic counseling. Such counseling should include discussion of the derivation and limitations of these empiric recurrence risk estimates, including the upper and lower limits of the range of risk.
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spelling pubmed-74321372020-08-25 Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling Heiman, Gary A. Rispoli, Jessica Seymour, Christine Leckman, James F. King, Robert A. Fernandez, Thomas V. Front Neurol Neurology Background: Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family studies indicate that TD strongly aggregates within families and that other chronic tic disorders are biologically related such that studies typically combine them into any chronic tic disorder (CTD). Because of stigma, bullying, and comorbidity with other neuropsychiatric disorders, CTDs can severely impact the quality of life of individuals with these disorders. Objectives: The genetic architecture of CTDs is complex and heterogeneous, involving a myriad of genetic variants. Thus, providing familial recurrence risks is based on empirical recurrence risk estimates rather than genetic testing. Because empiric recurrence risks for CTDs have not been published, the purpose of this study is to calculate and report these recurrence risks estimates. Methods: Based on population prevalence and increased risk to different relatives from a large population-based family study, we calculated the empiric recurrent risk estimate for each relative type (full sibling, parents, offspring, all first-degree, and all second-degree). Results: The recurrence risk estimate for CTDs in first-degree relatives is 29.9% [95% confidence interval (CI) = 23.2–38.5%]. The risk is higher in males, 33.7% (95% CI = 26.2–43.3%), than females, 24.3% (95% CI = 18.9–31.3%). Conclusions: Given the complex, heterogeneous genetic architecture of CTDs, individuals concerned about recurrence risk should be referred to genetic counseling. Such counseling should include discussion of the derivation and limitations of these empiric recurrence risk estimates, including the upper and lower limits of the range of risk. Frontiers Media S.A. 2020-08-11 /pmc/articles/PMC7432137/ /pubmed/32849224 http://dx.doi.org/10.3389/fneur.2020.00770 Text en Copyright © 2020 Heiman, Rispoli, Seymour, Leckman, King and Fernandez. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Heiman, Gary A.
Rispoli, Jessica
Seymour, Christine
Leckman, James F.
King, Robert A.
Fernandez, Thomas V.
Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title_full Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title_fullStr Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title_full_unstemmed Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title_short Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
title_sort empiric recurrence risk estimates for chronic tic disorders: implications for genetic counseling
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432137/
https://www.ncbi.nlm.nih.gov/pubmed/32849224
http://dx.doi.org/10.3389/fneur.2020.00770
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