Rett syndrome is an increasingly diagnosed syndrome in young children who appear normal at birth and develop normally until 6 to 18 months of age, when developmental milestones fail to be reached. The syndrome appears only in girls and therefore it is thought to be an X-linked dominant trait that is lethal in the male. This is a case report and literature review of anesthesia in a child with Rett syndrome.
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Spec Care Dentist
January 2025
Department of Head & Neck Surgery, Singapore General Hospital, Singapore, Republic of Singapore.
The cases of head and neck cancer among persons with intellectual disability (PWID) are infrequently reported and therefore poorly understood. PWID often face increased barriers of access to healthcare, which can be further compounded when faced with a cancer diagnosis. This report presents the case of a 34-year-old Chinese female patient with Rett syndrome and intellectual disability, presenting with two primary cancers of the tongue and the trachea.
View Article and Find Full Text PDFJ Intellect Dev Disabil
March 2024
Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
Background: Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
Methods: Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability of parental time. Qualitative responses were analysed using thematic analysis.
Biomed Pharmacother
January 2025
College of Veterinary Medicine, Konkuk University, 120, Neungdong-ro, Gwangjin-gu, Seoul 05029, Republic of Korea. Electronic address:
Rett syndrome (RTT) is a neurological disorder caused by a mutation in the X-linked methyl-CpG binding protein 2 (MECP2), leading to cognitive and motor skill regression. Therapeutic strategies aimed at increasing brain-derived neurotrophic factor (BDNF) levels have been reported; however, BDNF treatment has limitations, including the inability to penetrate the blood-brain barrier, a short half-life, and potential for adverse effects when administered via intrathecal injection, necessitating novel therapeutic approaches. In this study, we focused on the adenosine A receptor (AR), which modulates BDNF and its downstream pathways, and investigated the therapeutic potential of CGS21680, an AR agonist, through in vitro and in vivo studies using R106W RTT model.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Divisions of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes.
View Article and Find Full Text PDFJ Prev Alzheimers Dis
January 2025
Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA. Electronic address:
Background: There are no approved oral disease-modifying treatments for Alzheimer's disease (AD).
Objectives: The objective of this study was to assess efficacy and safety of blarcamesine (ANAVEX®2-73), an orally available small-molecule activator of the sigma-1 receptor (SIGMAR1) in early AD through restoration of cellular homeostasis including autophagy enhancement.
Design: ANAVEX2-73-AD-004 was a randomized, double-blind, placebo-controlled, 48-week Phase IIb/III trial.
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