We are happy to share this section as a joint effort of our Scientific Advisory Board to bring the latest scientific knowledge closer to human language. Thus, for every article shared here you will find a short and simple lay summary, provided either by the authors of the articles, or some short reviews by our SAB of recently published articles of other authors, as well as a link to an original article.
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Living with Rett syndrome: therapies, communication, movement and more
The Impact of Eye-gaze Controlled Computer on Communication and Functional Independence in Children and Young People with Complex Needs – A Multicenter Intervention Study. By Borgestig M., Al Khatib I., Masayko S., Hemmingsson H. (2021)
Aided language modelling, responsive communication and eye-gaze technology as communication intervention for adults with Rett syndrome: three experimental single case studies. By H. Wandin, P. Lindberg, K. Sonnander. (2021)
A comparison of formal and informal methods for assessing language and cognition in children with Rett syndrome. By Callie Ward, Shula Chiat, Gillian S. Townend. (2021)
Development of consensus-based guidelines for managing communication of individuals with Rett syndrome. By Gillian S. Townend, Theresa E. Bartolotta, Anna Urbanowicz, Helena Wandin and Leopold M.G. Curfs. (2020)
Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: Protocol for a waitlist randomised controlled trial. By Jenny Downs, Meir Lotan, Cochavit Elefant, Helen Leonard, Kingsley Wong, Nicholas Buckley, Michelle Stahlhut. (2020)
Eye-Gaze Control Technology as Early Intervention for a Non-Verbal Young Child with High Spinal Cord Injury: A Case Report. By Helena Hemmingsson, Gunnar Ahlsten, Helena Wandin, Patrik Rytterström and Maria Borgestig. (2018)
The Time is Now: The Need for an Intensive, Appropriate Individual Intervention for Individuals with Rett Syndrome. By Nissanholtz-Gannot R, Zigdon A, Lotan M. (2015)
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome. By Edilene Siqueira, Aida Obiols-Guardia, Olga C. Jorge-Torres, Cristina Oliveira-Mateos, Marta Soler, Deepthi Ramesh-Kumar, Fernando Setién, Daniëlle van Rossum, Ainhoa Pascual-Alonso, Clara Xiol, Cristina Ivan, Masayoshi Shimizu, Judith Armstrong, George A. Calin, R. Jeroen Pasterkamp, Manel Esteller, and Sonia Guil. (2022)
Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice. By Yann Ehinger, Julie Bruyère, Nicolas Panayotis, Yah-Se Abada, Emilie Borloz, Valérie Matagne, Chiara Scaramuzzino, Hélène Vitet, Benoit Delatour, Lydia Saidi, Laurent Villard, Frédéric Saudou, Jean-Christophe Roux. (2020)
Sleep problems in Rett syndrome animal models: A systematic review. By Xinyan Zhang, Jian-Sheng Lin, Karen Spruyt. (2020)
Potent hERG channel inhibition by Sarizotan, an investigative treatment for Rett syndrome. By Hongwei Cheng, Chunyun Du, Yihong Zhang, Andrew F. James, Christopher E. Dempsey, Ana P. Abdala, Jules C. Hancox. (2019)
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice. By Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D. Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A. Sánchez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, and Manel Esteller (2018)