Rett Syndrome and the Role of National Parent Associations within a European Context

Gillian Townend, Eric Smeets, Dick van Waardenburg, Rob van der Stel, Mariёlle van den Berg, Henk van Kranen, Leopold Curfs


Rett syndrome (RTT) is a rare neurodevelopmental disorder arising from a genetic mutation on the X chromosome. In recent years there has been an increasing focus in Europe on developing links, both within and between countries, between researchers, clinicians, therapists, individuals with RTT and their families or caregivers in order to maximise approaches towards treatment and long-term-management of the disorder. This paper seeks to place RTT, especially the support of families living with RTT, in a European context. It explores the important role played by both the national Rett Parent Associations and the Rett Expertise Centres that exist in many of the member states of the European Union and places the contribution of both within the context of European policy on rare diseases.


Rett syndrome; parent associations; centres of expertise; European Union; European policy; rare diseases

Full Text:



Fehr, S., et al., Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res, 2011. 70(3): p. 313-9.

Bienvenu, T., et al., The incidence of Rett syndrome in France. Pediatr Neurol, 2006. 34(5): p. 372-5.

Laurvick, C.L., et al., Rett syndrome in Australia: a review of the epidemiology. J Pediatr, 2006. 148(3): p. 347-52.

Leonard, H., C. Bower, and D. English, The prevalence and incidence of Rett syndrome in Australia. European Child & Adolescent Psychiatry, 1997. 6(Suppl 1): p. 8-10.

Samaco, R.C., et al., A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet, 2008. 17(12): p. 1718-27.

Hoffbuhr, K.C., et al., Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev, 2002. 8(2): p. 99-105.

Erlandson, A., et al., MECP2 mutation screening in Swedish classical Rett syndrome females. Eur Child Adolesc Psychiatry, 2001. 10(2): p. 117-21.

Zoghbi, H.Y.Y., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics, 1999. 23(2): p. 185-8.

Urbanowicz, A., et al., Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. Am J Med Genet A, 2014.

Neul, J.L., et al., Developmental delay in Rett syndrome: data from the natural history study. J Neurodev Disord, 2014. 6(1): p. 20.

Neul, J.L., et al., Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology, 2008. 70(16): p. 1313-21.

Bebbington, A., et al., Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology, 2008. 70: p. 868-875.

Temudo, T., et al., Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain Dev, 2011. 33(1): p. 69-76.

Temudo, T., et al., Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Mov Disord, 2008. 23(10): p. 1384-90.

Charman, T., et al., Regression in individuals with Rett syndrome. Brain & Development, 2002. 24(5): p. 281-283.

Smeets, E.E., K. Pelc, and B. Dan, Rett Syndrome. Mol Syndromol, 2012. 2(3-5): p. 113-127.

Hagberg, B., Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev, 2002. 8(2): p. 61-5.

Lee, J., et al., Early development and regression in Rett syndrome. Clin Genet, 2013.

Cass, H., et al., Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol, 2003. 45: p. 325-337.

Neul, J.L., et al., Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol, 2010. 68(6): p. 944-50.

Anderson, A., et al., Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet J Rare Dis, 2014. 9: p. 87.

Halbach, N.S., et al., Aging in Rett syndrome: a longitudinal study. Clin Genet, 2013. 84(3): p. 223-9.

Freilinger, M., et al., Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Dev Med Child Neurol, 2010. 52(10): p. 962-5.

Kirby, R.S., et al., Longevity in Rett Syndrome: Analysis of the North American Database. The Journal of Pediatrics, 2010. 156(1): p. 135-138.e1.

Guy, J., et al., Reversal of neurological defects in a mouse model of Rett syndrome. Science, 2007. 315(5815): p. 1143-7.

Garg, S.K., et al., Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci, 2013. 33(34): p. 13612-20.

Katz, D.M., et al., Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech, 2012. 5(6): p. 733-45.

Cobb, S., J. Guy, and A. Bird, Reversibility of functional deficits in experimental models of Rett syndrome. Biochem Soc Trans, 2010. 38(2): p. 498-506.

Ricceri, L., B. De Filippis, and G. Laviola, Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches. Behav Pharmacol, 2008. 19(5-6): p. 501-17.

Wandin, H., P. Lindberg, and K. Sonnander, Communication intervention in Rett syndrome: a survey of speech language pathologists in Swedish health services. Disabil Rehabil, 2014: p. 1-10.

Bartolotta, T.E. and P.A. Remshifski, Coaching communication partners: A preliminary investigation of communication intervention during mealtime in Rett syndrome. Communication Disorders Quarterly, 2013. 34(3): p. 162-171.

Sigafoos, J., et al., Communication intervention in Rett syndrome: A systematic review. Research in Autism Spectrum Disorders, 2009. 3(2): p. 304-318.

Elefant, C., Music therapy for individuals with Rett syndrome. International Journal on Disability and Human Development, 2009. 8(4): p. 359-368.

Lariviere, J., Exploring options for access: enhancing communication and learning for girls with Rett syndrome. Technology Special Interest Section Quarterly, 2007. 17(4): p. 1-4.

Lotan, M., Alternative therapeutic intervention for individuals with Rett syndrome. ScientificWorldJournal, 2007. 7: p. 698-714.

Lotan, M., Assistive technology and supplementary treatment for individuals with Rett syndrome. ScientificWorldJournal, 2007. 7: p. 903-48.

Lotan, M., E. Isakov, and J. Merrick, Improving functional skills and physical fitness in children with Rett syndrome. J Intellect Disabil Res, 2004. 48(Pt 8): p. 730-5.

Downs, J., et al., Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976), 2009. 34(17): p. E607-17.

Leonard, H., et al., Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr, 2013. 57(4): p. 451-60.

Townend, G.S., et al., Rett Syndrome as a Rare Disease: A European Perspective. Public Health Genomics, 2015 Apr 14. [Epub ahead of print] DOI: 10.1159/000381139

Grillo, E., et al., Rett networked database: an integrated clinical and genetic network of Rett syndrome databases. Hum Mutat, 2012. 33(7): p. 1031-6.

Louise, S., et al., InterRett, a model for international data collection in a rare genetic disorder. Res Autism Spectr Disord, 2009. 3(3).

Fyfe, S., et al., InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. J Child Neurol, 2003. 18(10): p. 709-13.

Christodoulou, J., et al., RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat, 2003. 21(5): p. 466-72.

Leonard, H., et al., Genotype and early development in Rett syndrome: the value of international data. Brain Dev, 2005. 27 Suppl 1: p. S59-S68.

Bao, X., et al., Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol, 2013. 55(6): p. 553-8.

Carter, P., et al., Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov. Disord., 2010. 25: p. 282-288.

Gilissen, C., et al., Genome sequencing identifies major causes of severe intellectual disability. Nature, 2014. 511(7509): p. 344-7.

Veltman, J.A. and H.G. Brunner, De novo mutations in human genetic disease. Nat Rev Genet, 2012. 13(8): p. 565-75.