Results 31 to 40 of about 3,757,153 (283)

Oral Manifestations of Rett Syndrome—A Systematic Review

International Journal of Environmental Research and Public Health, 2021
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as ...
S. Mahdi, Hafsa Abrar Jafri, R. Allana, F. Amenta, Mariam Khawaja, S. Qasim   +5 more
semanticscholar   +1 more source

Rett syndrome

Indian Journal of Psychiatry, 2005
Rett syndrome is a rare, progressive, neurodevelopmental disorder that has been reported only in the girl child. We describe the case of a 6.9-year-old girl with Rett syndrome. She had normal development till the age of 2 years. However, over the next 4-5 months, she lost her acquired, purposeful hand skills; expressive and receptive language; and ...
Sitholey, Prabhat, Agarwal, Vivek, Srivastava, Rohit   +2 more
openaire   +5 more sources

Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease

Case Reports in Dentistry, 2022
Rett syndrome is a neurodevelopmental genetic X-linked disorder. It is predominantly found in females with a prevalence rate of 1 : 9000. Rett syndrome patients are usually healthy the first months of their lives.
Wisam Al-Hathlol, Raed Bokhari, Nada Alzahrani, Elaf Alkuwaiti   +3 more
doaj   +1 more source

Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists [PDF]

, 2014
Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Newman-Tancredi, Adrian, John M Bissonnette, Bissonnette, John, Ana P. Abdala, Ana Paula Abdala, John M. Bissonnette, Adrian eNewman-Tancredi, Adrian Newman-Tancredi, Abdala, Ana Paula   +8 more
core   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Leonard, Helen, Zappella, M., Angus J. Clarke, Bailey, Mark E. S., Daniel G. Glaze, Clarke, A.J., Zappella, Michele, Kaufmann, Walter E., Neul, J.L., null Jeffrey L. Neul, John Christodoulou, N. Carolyn Schanen, Christodoulou, John, Percy, Alan K., Leonard, H., Michele Zappella, Walter E. Kaufmann, Mark E. S. Bailey, Neul, Jeffrey L., Kaufmann, W.E., RENIERI, ALESSANDRA, Schanen, N. Carolyn, Glaze, Daniel G., Bailey, M.E., Clarke, Angus John, Helen Leonard, Bailey, M.E.S., Bahi Buisson, N., Christodoulou, J., Peter Huppke, Percy, A.K., Bahi-Buisson, N., null null, RettSearch Consortium, MARI, FRANCESCA, Renieri, A., Alessandra Renieri, Nadia Bahi-Buisson, Bahi-Buisson, Nadia, Alan K. Percy, Huppke, Peter, Clarke, Angus J., Glaze, D.G., Schanen, N.C., Huppke, P.   +44 more
core   +1 more source

Comparison of evoked potentials across four related developmental encephalopathies

Journal of Neurodevelopmental Disorders, 2023
Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking.
Joni N. Saby, Sarika U. Peters, Timothy A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh   +12 more
doaj   +1 more source

R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Clinical Pathology, 2022
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +1 more source

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
C. Fu, D. Armstrong, E. Marsh, D. Lieberman, K. Motil, R. Witt, S. Standridge, P. Nues, J. Lane, T. Dinkel, Monica Coenraads, J. von Hehn, Mary D. Jones, K. Hale, B. Suter, D. Glaze, Jeffrey L. Neul, A. Percy, T. Benke   +18 more
semanticscholar   +1 more source

Rett Syndrome [PDF]

, 2022
The purpose of this paper is to explore the causes, characteristics, and interventions associated with Rett ...
Boyd, Susan V.
core   +1 more source

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

The Scientific World Journal, 2006
Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.
Meir Lotan, Bruria Ben-Zeev
doaj   +1 more source