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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-08-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2020.00770/full |
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| author | Gary A. Heiman Jessica Rispoli Christine Seymour James F. Leckman James F. Leckman Robert A. King Thomas V. Fernandez Thomas V. Fernandez |
| author_facet | Gary A. Heiman Jessica Rispoli Christine Seymour James F. Leckman James F. Leckman Robert A. King Thomas V. Fernandez Thomas V. Fernandez |
| author_sort | Gary A. Heiman |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T04:33:26Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-11T04:33:26Z |
| publishDate | 2020-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-635205f6c1384757a1fef77c028314b92022-12-22T01:20:49ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-08-011110.3389/fneur.2020.00770534273Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic CounselingGary A. Heiman0Jessica Rispoli1Christine Seymour2James F. Leckman3James F. Leckman4Robert A. King5Thomas V. Fernandez6Thomas V. Fernandez7Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, United StatesDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, United StatesDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, United StatesChild Study Center, Yale University School of Medicine, New Haven, CT, United StatesDepartment of Psychiatry, Yale University School of Medicine, New Haven, CT, United StatesChild Study Center, Yale University School of Medicine, New Haven, CT, United StatesChild Study Center, Yale University School of Medicine, New Haven, CT, United StatesDepartment of Psychiatry, Yale University School of Medicine, New Haven, CT, United StatesBackground: 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.https://www.frontiersin.org/article/10.3389/fneur.2020.00770/fullTourette disorderchronic tic disordersgenetic counselingrecurrence risk estimategenetic |
| spellingShingle | Gary A. Heiman Jessica Rispoli Christine Seymour James F. Leckman James F. Leckman Robert A. King Thomas V. Fernandez Thomas V. Fernandez Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling Frontiers in Neurology Tourette disorder chronic tic disorders genetic counseling recurrence risk estimate genetic |
| 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 | Tourette disorder chronic tic disorders genetic counseling recurrence risk estimate genetic |
| url | https://www.frontiersin.org/article/10.3389/fneur.2020.00770/full |
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