Results 41 to 50 of about 2,296,312 (307)

Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study

Digital Health, 2023
Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders.
Miroslava Migovich, Akshith Ullal, Cary Fu, Sarika U Peters, Nilanjan Sarkar   +4 more
doaj   +1 more source

Deficiency of GABAergic synaptic inhibition in the Kölliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome [PDF]

, 2015
Life threatening breathing irregularity and central apnoeas are highly prevalent in children suffering from Rett syndrome. Abnormalities in inhibitory synaptic transmission have been associated with the physiopathology of this syndrome, and may underlie ...
Abdala, Ana Paula, Bissonnette, John M., Dutschmann, Mathias, Paton, Julian F R, Toward, Marie A.   +4 more
core   +2 more sources

Consensus guidelines on managing Rett syndrome across the lifespan

BMJ Paediatrics Open, 2020
Background Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance
Cary Fu, Dallas Armstrong, E. Marsh, David Lieberman, K. Motil, R. Witt, S. Standridge, P. Nues, J. Lane, T. Dinkel, Monica Coenraads, Jana von Hehn, Mary D. Jones, K. Hale, B. Suter, D. Glaze, Jeffrey Neul, A. Percy, T. Benke   +18 more
semanticscholar   +1 more source

Rett Syndrome. Guidelines for Individual Intervention

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome.
Meir Lotan
doaj   +1 more source

Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers

Frontiers in Neurology, 2022
BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene.
Silvia Leoncini, Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice, Claudio De Felice   +11 more
doaj   +1 more source

Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome [PDF]

, 2017
Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills.
Bahey, Noha G., Bailey, Mark E.S., Cobb, Stuart R., Edgar, Julia M., Gadalla, Kamal K.E., McGonigal, Rhona   +5 more
core   +1 more source

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

Frontiers in Cell and Developmental Biology, 2020
Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology,
A. Gomes, Tiago G Fernandes, S. Vaz, Teresa P. Silva, E. Bekman, S. Xapelli, S. Duarte, M. Ghazvini, J. Gribnau, A. Muotri, C. Trujillo, A. Sebastião, J. Cabral, M. M. Diogo   +13 more
semanticscholar   +1 more source

Osteoporosis in Rett Syndrome: A Study on Normal Values

The Scientific World Journal, 2006
Osteoporosis is the reduction of calcium density in bones, usually evident in postmenopausal females, yet the tendency for osteoporosis can also be identified at a young age, especially in patients with chronic diseases, disabilities, and on chronic ...
Lilit Zysman, Meir Lotan, Bruria Ben-Zeev   +2 more
doaj   +1 more source

Movement disorders and syndromic autism: a systematic review [PDF]

, 2019
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown.
Bell, L., Hare, D. J., Wittkowski, A.
core   +2 more sources

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

iScience, 2022
Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez   +17 more
doaj   +1 more source