Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cogni...
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| Format: | Article |
| Language: | English |
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BMC
2022-05-01
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| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-022-09432-2 |
| _version_ | 1818210342237372416 |
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| author | Caroline B. Buchanan Jennifer L. Stallworth Aubin E. Joy Rebekah E. Dixon Alexandra E. Scott Arthur A. Beisang Timothy A. Benke Daniel G. Glaze Richard H. Haas Peter T. Heydemann Mary D. Jones Jane B. Lane David N. Lieberman Eric D. Marsh Jeffrey L. Neul Sarika U. Peters Robin C. Ryther Steve A. Skinner Shannon M. Standridge Walter E. Kaufmann Alan K. Percy |
| author_facet | Caroline B. Buchanan Jennifer L. Stallworth Aubin E. Joy Rebekah E. Dixon Alexandra E. Scott Arthur A. Beisang Timothy A. Benke Daniel G. Glaze Richard H. Haas Peter T. Heydemann Mary D. Jones Jane B. Lane David N. Lieberman Eric D. Marsh Jeffrey L. Neul Sarika U. Peters Robin C. Ryther Steve A. Skinner Shannon M. Standridge Walter E. Kaufmann Alan K. Percy |
| author_sort | Caroline B. Buchanan |
| collection | DOAJ |
| description | Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cognitive impairment and limited expressive language. This study aims to describe the frequency of anxiety-like behavior and anxiolytic treatments along with associated clinical features in individuals with RTT. Methods Parental reports and medication logs provided data from 1380 females with RTT participating in two iterations of the multicenter U.S. RTT Natural History Study (RNHS) from 2006 to 2019. Results Most participants with RTT (77.5%) had at least occasional anxious or nervous behavior. Anxiety was reported to be the most troublesome concern for 2.6%, and within the top 3 concerns for 10.0%, of participants in the second iteration. Parents directly reported treatment for anxious or nervous behavior in 16.6% of participants in the second iteration with most reporting good control of the behavior (71.6%). In the medication logs of both RNHS iterations, the indication of anxiety was listed for a similar number of participants (15% and 14.5%, respectively). Increased use of anxiolytics and selective serotonin reuptake inhibitors (SSRIs) was related to more frequent anxiety-like behaviors (P < 0.001), older age (P < 0.001), and mild MECP2 variants (P = 0.002). Conclusion Anxiety-like behavior is frequent at all ages and is a significant parental concern in RTT. Older individuals and those with mild MECP2 variants are more likely to be treated with medications. Better diagnosis and treatment of anxiety in RTT should be a goal of both future studies and clinical care. Trial registration NCT00299312 and NCT02738281 |
| first_indexed | 2024-12-12T05:15:05Z |
| format | Article |
| id | doaj.art-8aae0854010443cb93ccd08bb6de4fed |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-12-12T05:15:05Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-8aae0854010443cb93ccd08bb6de4fed2022-12-22T00:36:48ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552022-05-0114111110.1186/s11689-022-09432-2Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history studyCaroline B. Buchanan0Jennifer L. Stallworth1Aubin E. Joy2Rebekah E. Dixon3Alexandra E. Scott4Arthur A. Beisang5Timothy A. Benke6Daniel G. Glaze7Richard H. Haas8Peter T. Heydemann9Mary D. Jones10Jane B. Lane11David N. Lieberman12Eric D. Marsh13Jeffrey L. Neul14Sarika U. Peters15Robin C. Ryther16Steve A. Skinner17Shannon M. Standridge18Walter E. Kaufmann19Alan K. Percy20Greenwood Genetic CenterGreenwood Genetic CenterGreenwood Genetic CenterGreenwood Genetic CenterGreenwood Genetic CenterGillette Children’s HospitalChildren’s Hospital Colorado, University of Colorado at DenverBaylor College of MedicineRady Children’s Hospital-San Diego, University of CaliforniaRush University Medical CenterUCSF Benioff Children’s Hospital of OaklandCivitan International Research Center, University of Alabama at BirminghamBoston Children’s Hospital, Harvard Medical SchoolChildren’s Hospital of Philadelphia, Perelman School of Medicine at the University of PennsylvaniaVanderbilt Kennedy Center, Vanderbilt University Medical CenterVanderbilt Kennedy Center, Vanderbilt University Medical CenterWashington University School of Medicine in St. LouisGreenwood Genetic CenterDivision of Neurology, Cincinnati Children’s Hospital Medical CenterUniversity of South Carolina School of MedicineCivitan International Research Center, University of Alabama at BirminghamAbstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cognitive impairment and limited expressive language. This study aims to describe the frequency of anxiety-like behavior and anxiolytic treatments along with associated clinical features in individuals with RTT. Methods Parental reports and medication logs provided data from 1380 females with RTT participating in two iterations of the multicenter U.S. RTT Natural History Study (RNHS) from 2006 to 2019. Results Most participants with RTT (77.5%) had at least occasional anxious or nervous behavior. Anxiety was reported to be the most troublesome concern for 2.6%, and within the top 3 concerns for 10.0%, of participants in the second iteration. Parents directly reported treatment for anxious or nervous behavior in 16.6% of participants in the second iteration with most reporting good control of the behavior (71.6%). In the medication logs of both RNHS iterations, the indication of anxiety was listed for a similar number of participants (15% and 14.5%, respectively). Increased use of anxiolytics and selective serotonin reuptake inhibitors (SSRIs) was related to more frequent anxiety-like behaviors (P < 0.001), older age (P < 0.001), and mild MECP2 variants (P = 0.002). Conclusion Anxiety-like behavior is frequent at all ages and is a significant parental concern in RTT. Older individuals and those with mild MECP2 variants are more likely to be treated with medications. Better diagnosis and treatment of anxiety in RTT should be a goal of both future studies and clinical care. Trial registration NCT00299312 and NCT02738281https://doi.org/10.1186/s11689-022-09432-2Rett syndromeNatural history studiesAnxietyAnti-anxiety agentsMethyl-CpG-binding protein 2 |
| spellingShingle | Caroline B. Buchanan Jennifer L. Stallworth Aubin E. Joy Rebekah E. Dixon Alexandra E. Scott Arthur A. Beisang Timothy A. Benke Daniel G. Glaze Richard H. Haas Peter T. Heydemann Mary D. Jones Jane B. Lane David N. Lieberman Eric D. Marsh Jeffrey L. Neul Sarika U. Peters Robin C. Ryther Steve A. Skinner Shannon M. Standridge Walter E. Kaufmann Alan K. Percy Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study Journal of Neurodevelopmental Disorders Rett syndrome Natural history studies Anxiety Anti-anxiety agents Methyl-CpG-binding protein 2 |
| title | Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study |
| title_full | Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study |
| title_fullStr | Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study |
| title_full_unstemmed | Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study |
| title_short | Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study |
| title_sort | anxiety like behavior and anxiolytic treatment in the rett syndrome natural history study |
| topic | Rett syndrome Natural history studies Anxiety Anti-anxiety agents Methyl-CpG-binding protein 2 |
| url | https://doi.org/10.1186/s11689-022-09432-2 |
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