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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.
Ann Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
View Article and Find Full Text PDFAssessing Experiences With Trofinetide for Rett Syndrome: Interviews With Caregivers of Participants in Clinical Trials.
Clin Ther
January 2025
Acadia Pharmaceuticals, Inc., San Diego, California. Electronic address:
Purpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder that mainly affects girls and women. Trofinetide is approved for the treatment of RTT in adults and children aged ≥2 years. To gain insight into experiences with RTT and effects of trofinetide treatment at different stages of RTT, interviews with caregivers of individuals with RTT were conducted upon their exit from the open-label trofinetide trials.
View Article and Find Full Text PDFEnvironmental Enrichment and Epigenetic Changes in the Brain: From the Outside to the Deep Inside.
Subcell Biochem
January 2025
Facultad de Medicina y Ciencia, Universidad San Sebastián, Santiago, Chile.
The brain plays a vital role in maintaining homeostasis and effective interaction with the environment, shaped by genetic and environmental factors throughout neurodevelopment and maturity. While genetic components dictate initial neurodevelopment stages, epigenetics-specifically neuroepigenetics-modulates gene expression in response to environmental influences, allowing for brain adaptability and plasticity. This interplay is particularly evident in neuropathologies like Rett syndrome and CDKL5 deficiency syndrome, where disruptions in neuroepigenetic processes underline significant cognitive and motor impairments.
View Article and Find Full Text PDFTwo Head and Neck Cancers in an Adult With Intellectual Disability and Rett Syndrome: A Case Report.
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 PDFDown syndrome or Rett syndrome in the family: Parental reflections on sibling experience.
J 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.
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