Sleep disturbance in Angelman syndrome patients
Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70–80% of patients with...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03154-5 |
| _version_ | 1797219600100753408 |
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| author | Song Qu Junyi Wang Xingying Guan Cui Song Yanyan Wang |
| author_facet | Song Qu Junyi Wang Xingying Guan Cui Song Yanyan Wang |
| author_sort | Song Qu |
| collection | DOAJ |
| description | Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70–80% of patients with AS and has a serious impact on the lives of patients and their families. Although clinical studies and animal model studies have provided some clues, recent research into sleep disorders in the context of AS is still very limited. It is generally accepted that there is an interaction between neurodevelopment and sleep; however, there is no recognized mechanism for sleep disorders in AS patients. Accordingly, there are no aetiologically specific clinical treatments for AS-related sleep disorders. The most common approaches involve ameliorating symptoms through methods such as behavioural therapy and symptomatic pharmacotherapy. In recent years, preclinical and clinical studies on the targeted treatment of AS have emerged. Although precision therapy for restoring the UBE3A level and the function of its signalling pathways is inevitably hindered by many remaining obstacles, this approach has the potential to address AS-related sleep disturbance. |
| first_indexed | 2024-04-24T12:36:13Z |
| format | Article |
| id | doaj.art-7299588a6dab4ba9819237544c11401a |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-24T12:36:13Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-7299588a6dab4ba9819237544c11401a2024-04-07T11:30:37ZengBMCOrphanet Journal of Rare Diseases1750-11722024-04-011911810.1186/s13023-024-03154-5Sleep disturbance in Angelman syndrome patientsSong Qu0Junyi Wang1Xingying Guan2Cui Song3Yanyan Wang4Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University)Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University)Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University)Department of Endocrinology and Genetic Metabolism Disease, Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of PediatricsDepartment of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University)Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70–80% of patients with AS and has a serious impact on the lives of patients and their families. Although clinical studies and animal model studies have provided some clues, recent research into sleep disorders in the context of AS is still very limited. It is generally accepted that there is an interaction between neurodevelopment and sleep; however, there is no recognized mechanism for sleep disorders in AS patients. Accordingly, there are no aetiologically specific clinical treatments for AS-related sleep disorders. The most common approaches involve ameliorating symptoms through methods such as behavioural therapy and symptomatic pharmacotherapy. In recent years, preclinical and clinical studies on the targeted treatment of AS have emerged. Although precision therapy for restoring the UBE3A level and the function of its signalling pathways is inevitably hindered by many remaining obstacles, this approach has the potential to address AS-related sleep disturbance.https://doi.org/10.1186/s13023-024-03154-5Angelman syndromeSleep disturbanceImprinting disorder |
| spellingShingle | Song Qu Junyi Wang Xingying Guan Cui Song Yanyan Wang Sleep disturbance in Angelman syndrome patients Orphanet Journal of Rare Diseases Angelman syndrome Sleep disturbance Imprinting disorder |
| title | Sleep disturbance in Angelman syndrome patients |
| title_full | Sleep disturbance in Angelman syndrome patients |
| title_fullStr | Sleep disturbance in Angelman syndrome patients |
| title_full_unstemmed | Sleep disturbance in Angelman syndrome patients |
| title_short | Sleep disturbance in Angelman syndrome patients |
| title_sort | sleep disturbance in angelman syndrome patients |
| topic | Angelman syndrome Sleep disturbance Imprinting disorder |
| url | https://doi.org/10.1186/s13023-024-03154-5 |
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