Results 81 to 90 of about 2,296,312 (307)

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Augmentative and Alternative Communication : AAC, 2020
Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with ...
G. Townend, T. Bartolotta, A. Urbanowicz, Helena Wandin, L. Curfs   +4 more
semanticscholar   +1 more source

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database

Journal of Neurodevelopmental Disorders
Background With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population.
Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre   +10 more
doaj   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome

Journal of Medical Genetics, 2020
Background Rett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome.
M. S. Carroll, J. Ramirez, D. Weese-Mayer   +2 more
semanticscholar   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Challenges Affecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome: A Qualitative Case Study

International Journal of Environmental Research and Public Health, 2020
Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources.
Javier Güeita-Rodríguez, Pilar Famoso-Pérez, Jaime Salom-Moreno, P. Carrasco-Garrido, Jorge Pérez-Corrales, D. Palacios-Ceña   +5 more
semanticscholar   +1 more source

Rett Syndrome; Diagnostic Criteria

Pediatric Neurology Briefs, 1988
Diagnostic criteria for Rett Syndrome are proposed by the International Rett Syndrome Association and the Centers for Disease Control, Koger Center, F-37, Atlanta, GA.
J Gordon Millichap
doaj   +1 more source

Functional Recovery with Electro-Acupuncture Stimulation in an Mecp2-Knockout Rat Model of Rett Syndrome

Engineering, 2022
Rett syndrome is a progressive neurodevelopmental disorder that lacks effective treatments. Although deep-brain stimulation can alleviate some symptoms in Rett model mice, this interventional manipulation requires deliberate surgical operations. Here, we
Yanhong Sun, Zhifang Chen, Yi Xu, Yuefang Zhang, Zhilei Ge, Chenglie Lin, Yi Zhou, Fangfei Zhao, Meiling Yan, Xinyi Liu, Ying Zhu, Jimin Gao, Hongyi Li, Lihua Wang, Jun Hu, Zilong Qiu, Chunhai Fan   +16 more
doaj   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source