Article

Kaufmann, W. E. ORCID: https://orcid.org/0000-0002-8561-8453, Percy, A. K., Neul, J. L., Downs, J., Leonard, H., Nues, P., Sharma, G. D., Bartolotta, T. E., Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Curfs, L. M. G., Mariotti, O., Buda, C., O’Leary, H. M., Oberman, L. M., Vogel-Farley, V., Barnes, K. V. and Missling, C. U. (2024) Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey. Orphanet Journal of Rare Diseases, 19. 296. ISSN 1750-1172 doi: https://doi.org/10.1186/s13023-024-03313-8

Ward, C., Chiat, S. ORCID: https://orcid.org/0000-0002-8981-8153 and Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046 (2021) A comparison of formal and informal methods for assessing language and cognition in children with Rett syndrome. Research in Developmental Disabilities, 114. 103961. ISSN 08914222 doi: https://doi.org/10.1016/j.ridd.2021.103961

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Bartolotta, T. E. ORCID: https://orcid.org/0000-0003-2730-0815, Urbanowicz, A. ORCID: https://orcid.org/0000-0002-7909-4526, Wandin, H. ORCID: https://orcid.org/0000-0003-0002-7142 and Curfs, L. M.G. ORCID: https://orcid.org/0000-0001-9154-1395 (2020) Development of consensus-based guidelines for managing communication of individuals with Rett syndrome. Augmentative and Alternative Communication, 36 (2). pp. 71-81. ISSN 0743-4618 doi: https://doi.org/10.1080/07434618.2020.1785009

de Breet, L. H.M., Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Curfs, L. M.G., Kingma, H. ORCID: https://orcid.org/0000-0001-9880-8224, Smeets, E. E.J., Lucieer, F., Widdershoven, J. and 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). pp. 262-269. ISSN 1532-2130 doi: https://doi.org/10.1016/j.ejpn.2018.12.003

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, van de Berg, R., de Breet, L. H.M., Hiemstra, M., Wagter, L. ORCID: https://orcid.org/0000-0003-4312-8314, Smeets, E., Widdershoven, J., Kingma, H. and Curfs, L. M.G. (2018) Oculomotor function in individuals with Rett Syndrome. Pediatric Neurology, 88. pp. 48-58. ISSN 08878994 doi: https://doi.org/10.1016/j.pediatrneurol.2018.08.022

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Ehrhart, F. ORCID: https://orcid.org/0000-0002-7770-620X, van Kranen, H. J. ORCID: https://orcid.org/0000-0001-7777-3245, Wilkinson, M. ORCID: https://orcid.org/0000-0001-6960-357X, Jacobsen, A. ORCID: https://orcid.org/0000-0003-4818-2360, Roos, M. ORCID: https://orcid.org/0000-0002-8691-772X, Willighagen, E. L., van Enckevort, D. ORCID: https://orcid.org/0000-0002-2440-3993, Evelo, C. T. ORCID: https://orcid.org/0000-0002-5301-3142 and Curfs, L. M. G. ORCID: https://orcid.org/0000-0001-9154-1395 (2018) MECP2 variation in Rett syndrome-an overview of current coverage of genetic and phenotype data within existing databases. Human Mutation, 39. pp. 914-924. ISSN 1098-1004 doi: https://doi.org/10.1002/humu.23542

Borst, H. E., Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, van Eck, M., Smeets, E., van den Berg, M., Laan, A. and Curfs, L. M. G. (2018) Abnormal foot position and standing and walking ability in Rett Syndrome: an exploratory study. Journal of Developmental and Physical Disabilities, 30 (2). pp. 281-295. ISSN 1573-3580 doi: https://doi.org/10.1007/s10882-017-9585-6

Marschik, P. B., Lemcke, S., Einspieler, C., Zhang, D., Bölte, S., Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046 and Lauritsen, M. B. (2018) Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach. Developmental Neurorehabilitation, 21 (1). pp. 68-72. ISSN 1751-8423 doi: https://doi.org/10.1080/17518423.2017.1323970

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Marschik, P. B., Smeets, E., van de Berg, R., van den Berg, M. and Curfs, L. M.G. (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 (1). pp. 101-112. ISSN 1573-3580 doi: https://doi.org/10.1007/s10882-015-9455-z

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Bartl-Pokorny, K. D., Sigafoos, J., Curfs, L. M.G., Bölte, S., Poustka, L., Einspieler, C. and Marschik, P. B. (2015) Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life. Research in Developmental Disabilities, 43-44. pp. 80-86. ISSN 08914222 doi: https://doi.org/10.1016/j.ridd.2015.06.008

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, van Kranen, H. J., van der Stel, R., van den Berg, M., Smeets, E., van Waardenburg, D. and Curfs, L. M.G. (2015) Rett Syndrome as a rare disease: a European perspective. Public Health Genomics, 18 (4). pp. 233-236. ISSN 1662-8063 doi: https://doi.org/10.1159/000381139

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Smeets, E., van Waardenburg, D., van der Stel, R., van den Berg, M., van Kranen, H. J. and Curfs, L. M. G. (2015) Rett syndrome and the role of national parent associations within a European context. Rare Diseases and Orphan Drugs: An International Journal of Public Health, 2 (2). pp. 17-26.

Judge, S. and Townend, G. ORCID: https://orcid.org/0000-0002-5448-9046 (2013) Perceptions of the design of voice output communication aids. International Journal of Language & Communication Disorders, 48 (4). pp. 366-381. ISSN 1460-6984 doi: https://doi.org/10.1111/1460-6984.12012

Book or Report Section

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Bartolotta, T. E., Urbanowicz, A., Wandin, H. and Curfs, L. M.G. (2017) Cognition, communication and behavior in individuals with Rett Syndrome. In: Kaufmann, W. E., Percy, A., Clarke, A., Leonard, H. and Naidu, S. (eds.) Rett Syndrome. Mac Keith Press. ISBN 9781909962835

Book

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046, Bartolotta, T. E., Urbanowicz, A., Wandin, H. and Curfs, L. M. G. (2020) Rett Syndrome communication guidelines: a handbook for therapists, educators and families. Rett Expertise Centre Netherlands, Maastricht.

Thesis

Townend, G. S. ORCID: https://orcid.org/0000-0002-5448-9046 (2019) Rett Syndrome: recognising the communication challenges, needs and potential of individuals living with a rare disease. PhD thesis, Maastricht University. doi: https://doi.org/10.26481/dis.20190704gt (ISBN: 9789463803953)