Publications
On this page you will find a list of publications (articles, books, book chapters etc.) that have been authored or co-authored by one or more members of the Rett UK Communication and Education team, all relating to Rett syndrome, and its communication challenges, needs and potential.
Where possible, links to the original publications and their downloads are included. Many are open access which means you are free to download them by using the live link (shown in pink). For any that are not open access, you will need an institutional log-in or personal subscription to access the full article. In case of difficulties accessing any articles, please contact Gill Townend to discuss options for getting a copy ([email protected]).
• Ward C, Chiat S, Townend GS. (2021). A comparison of formal and informal methods for assessing language and cognition in children with Rett syndrome. Research in Developmental Disabilities. 114, 103961. doi: 10.1016/j.ridd.2021.103961
• Townend GS, Bartolotta TE, Urbanowicz A, Wandin H, Curfs LMG. (2020). Development of consensus-based guidelines for managing communication in individuals with Rett syndrome. Augmentative and Alternative Communication. 36(2), 71-81. doi: 10.1080/07434618.2020.1785009
• Townend GS, Bartolotta TE, Urbanowicz A, Wandin H, Curfs LMG. (2020). Rett syndrome communication guidelines: a handbook for therapists, educators and families. Rett Expertise Centre Netherlands-GKC, Maastricht, NL, and Rettsyndrome.org, Cincinatti, OH.
• Townend G.S. (2019). Rett syndrome: Recognizing the communication challenges, needs and potential of individuals living with a rare disease. ProefschriftMaken, Maastricht. doi: 10.26481/dis.20190704gt
• Smeets EE, Townend GS, Curfs LMG. (2019). Rett syndrome and developmental regression. Neuroscience and Biobehavioral Reviews. 104,100-1. doi: 10.1016/j.neubiorev.2019.06.038
• Zhang D, Bedogni F, Boterberg S, Camfield C, Camfield P, Charman T, Curfs L,…Townend GS...and Marschik PB. (2019). Towards a consensus on developmental regression. Neuroscience and Biobehavioral Reviews. 107, 3-5. doi: 10.1016/j.neubiorev.2019.08.014.
• De Breet L, Townend GS, Curfs LMG, Kingma H, Smeets E, Widdershoven J, van de Berg R. (2019). Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography. European Journal of Paediatric Neurology, 23(2), 262-269. doi: 10.1016/j.ejpn.2018.12.003
• Townend GS, van de Berg R, De Breet L, Hiemstra M, Wagter L, Smeets E, Widdershoven J, Kingma H, Curfs LMG. (2018). Oculomotor function in individuals with Rett syndrome. Pediatric Neurology, 88, 48-58. doi: 10.1016/j.pediatrneurol.2018.08.022
• Townend GS, Ehrhart F, van Kranen HJ, Wilkinson M, Jacobsen A, Roos M, Willighagen EL, van Enckevort D, Evelo CT, Curfs LMG. (2018). MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databases. Human Mutation. 39(9), 914–924. doi: 10.1002/humu.23542
• Borst HE, Townend GS, van Eck M, Smeets E, van den Berg, M, Laan A, Curfs LMG. (2018). Abnormal foot position and standing and walking ability in Rett syndrome: an exploratory study. Journal of Developmental and Physical Disabilities. 30(2), 281-195. doi: 10.1007/s10882-017-9585-6
• Marschik PB, Lemcke S, Einspieler C, Zhang D, Bölte S, Townend GS, Lauritsen M. (2018). Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach. Developmental Neurorehabilitation. 21(1), 68-72. doi: 10.1080/17518423.2017.1323970
• Townend GS, Marschik PB, Kaufmann W, Fabio RA, Sigafoos J, Curfs LMG. (2017). Cognition, Behaviour and Communication. In Kaufmann WE. (ed.) Rett Syndrome. Chapter 6, 50-61. London: MacKeith Press.
• Williams K, Keeley T, Malmenäs M, Phelps H, Jordan P, Anand R, Kaminsky S, Bartolotta T, Curfs L, Kaufmann W, Mariotti O, Neul J, Nues P, Percy AK, Sharma G, Townend G. (2017). Burden of disease in Rett syndrome: a qualitative analysis and development of a conceptual model. Value in Health, 20(5), A226-A226.
• Townend GS, Smeets E, Marschik PB, Curfs LMG. (2016). Communication in Individuals with Rett Syndrome: What we know now and what we have yet to find out. Wiener Medizinische Wochenschrift. 166(11): 371-374. doi:10.1007/s10354-016-0489-3
• Townend GS, Marschik PB, Smeets E, van de Berg R, van den Berg M, Curfs LMG. (2016). Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands. Journal of Developmental and Physical Disabilities. 28: 101-12. doi: 10.1007/s10882-015-9455-z
• Townend GS, Bartl-Pokorny KD, Sigafoos J, Curfs LMG, Bolte S, Poustka L, Einspieler C, Marschik PB. (2015). Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life. Research in Developmental Disabilities. 43-44: 80-6. doi: 10.1016/j.ridd.2015.06.008
• Townend GS, Smeets E, van Waardenburg D, van der Stel R, van den Berg M, van Kranen HJ, Curfs LMG. (2015). Rett syndrome and the role of national parent associations within a European context. Rare Diseases and Orphan Drugs. 2(2): 17-26.
• Townend GS, van Kranen HJ, van der Stel R, van den Berg M, Smeets E, van Waardenburg D, Curfs LMG. (2015). Rett Syndrome as a Rare Disease: A European Perspective. Public Health Genomics. 18(4): 233-6. doi: 10.1159/000381139