Results 41 to 50 of about 2,462,658 (261)

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

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

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

Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with rett syndrome:a case report [PDF]

, 2009
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects females. The spinal curve in patients with Rett syndrome is typically a long C curve of a neuromuscular type. As the onset of the
Misawa, Haruo, Nakanishi, Kazuo, Nishida, Keiichiro, Ozaki, Toshifumi, Sugimoto, Yoshihisa, Takigawa, Tomoyuki, Tanaka, Masato   +6 more
core   +2 more sources

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

Multisystem comorbidities in classic Rett syndrome: a scoping review

BMJ Paediatrics Open, 2020
Background Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers.
Cary Fu, Dallas Armstrong, E. Marsh, David Lieberman, K. Motil, R. Witt, S. Standridge, J. Lane, T. Dinkel, Mary D. Jones, K. Hale, B. Suter, D. Glaze, Jeffrey Neul, A. Percy, T. Benke   +15 more
semanticscholar   +1 more source

Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. [PDF]

, 2019
Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. Complete loss of MECP2 function in males causes congenital encephalopathy, neurodevelopmental arrest, and early lethality.
Carromeu, Cassiano, Freitas, Beatriz CG, Ghosh, Anirvan, Hu, Xindao, Kim, Jean J, Lavallée-Adam, Mathieu, Miller, Meghan T, Muotri, Alysson R, Savas, Jeffrey N, Yates, John R   +9 more
core   +2 more sources