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Long-Term Bumetanide Administration Altered Behavioral Pattern in Mosaic Down’S Syndrome: A Case Report Publisher Pubmed



Gharaylou Z1, 2 ; Shafaghi L1 ; Pestehei SK3 ; Hadjighassem M1, 4
Authors
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Authors Affiliations
  1. 1. Department of Neuroscience and Addiction Studies, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Shefa Neuroscience Research Center, Tehran, Iran
  3. 3. Department of Anesthesiology, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Brain and Spinal Cord Injury Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Applied Neuropsychology: Child Published:2023


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. © 2021 Taylor & Francis Group, LLC.