{"title":"Long-term bumetanide administration altered behavioral pattern in mosaic Down's Syndrome: A case report.","authors":"Zeinab Gharaylou, Lida Shafaghi, Seyed Khalil Pestehei, Mahmoudreza Hadjighassem","doi":"10.1080/21622965.2021.2007481","DOIUrl":null,"url":null,"abstract":"<p><p>The behavioral phenotypes emerge from cognitive architecture comprising attention, executive functions, and primary communication skills that all have shown remarkable deficits in Down's Syndrome (DS). These states arise from the proper functional interactions of the contributing neurotransmission and neuromodulation systems and other coding platforms. Gamma-aminobutyric acid (GABA) is an integral part of the neural interaction and regulation networks that its reverse action leads to broad detrimental consequences. This inhibitory substance needs an appropriate balance of co-transporters that largely shape the ionic milieu. Bumetanide, a specific NKCC1 inhibitor used for an eighteen-month interval, showed promising effects in restoring some behavior deficits in a fourteen-year-old boy diagnosed with genetically confirmed mosaic Down's Syndrome.</p>","PeriodicalId":8047,"journal":{"name":"Applied Neuropsychology: Child","volume":"12 1","pages":"88-95"},"PeriodicalIF":1.4000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Applied Neuropsychology: Child","FirstCategoryId":"102","ListUrlMain":"https://doi.org/10.1080/21622965.2021.2007481","RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
The behavioral phenotypes emerge from cognitive architecture comprising attention, executive functions, and primary communication skills that all have shown remarkable deficits in Down's Syndrome (DS). These states arise from the proper functional interactions of the contributing neurotransmission and neuromodulation systems and other coding platforms. Gamma-aminobutyric acid (GABA) is an integral part of the neural interaction and regulation networks that its reverse action leads to broad detrimental consequences. This inhibitory substance needs an appropriate balance of co-transporters that largely shape the ionic milieu. Bumetanide, a specific NKCC1 inhibitor used for an eighteen-month interval, showed promising effects in restoring some behavior deficits in a fourteen-year-old boy diagnosed with genetically confirmed mosaic Down's Syndrome.
期刊介绍：
Applied Neuropsychology: Child publishes clinical neuropsychological articles concerning assessment, brain functioning and neuroimaging, neuropsychological treatment, and rehabilitation in children. Full-length articles and brief communications are included. Case studies of child patients carefully assessing the nature, course, or treatment of clinical neuropsychological dysfunctions in the context of scientific literature, are suitable. Review manuscripts addressing critical issues are encouraged. Preference is given to papers of clinical relevance to others in the field. All submitted manuscripts are subject to initial appraisal by the Editor-in-Chief, and, if found suitable for further considerations are peer reviewed by independent, anonymous expert referees. All peer review is single-blind and submission is online via ScholarOne Manuscripts.
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