RETT SYNDROOM

Rett syndroom is een zeldzame neurologische ontwikkelingsstoornis die in de meeste gevallen veroorzaakt wordt door een spontane mutatie in het gen dat codeert voor Methyl-CpG-bindend Proteïne 2 (MECP2). Het komt bij meisjes voor in ongeveer 1 op 10-12.000 geboortes en is bij jongens veel zeldzamer. Kenmerkend is de schijnbaar bijna normale ontwikkeling in de eerste maanden na de geboorte, gevolgd door een periode van stagnatie en regressie, met verlies van aangeleerde vaardigheden zoals spraak en zinvol handgebruik en met ontwikkeling van stereotypische handbewegingen. Bijkomende kenmerken kunnen zijn: een verstoord bewegingspatroon en afwijkende spierspanning (dystonie, dyspraxie, ataxie), een verstoorde ademhaling, cardiovasculaire problemen, maag-darm problemen, epilepsie en niet-epileptische aanvallen, skeletafwijkingen zoals vervorming van de wervelkolom (scoliose en/of kyfose) en verminderde botdichtheid, slaapstoornissen, toegenomen prikkelbaarheid en verandering in affect of stemming. Rett syndroom is levenslang en kan de levensduur beperken. Het is geen degeneratieve aandoening; velen leven tot in volwassenheid en tonen daarbij vermogen tot leren en herkrijgen of verkrijgen vaardigheden na de regressiefase. 

Het vermogen, of onvermogen, om succesvol te communiceren met mensen in de omgeving en om onafhankelijk en autonoom te functioneren in de maatschappij heeft grote impact op de kwaliteit van leven en het ervaren welzijn. Van alle aspecten van de aandoening, die mensen met Rett syndroom en hun familie ervaren, wordt beperking in communicatie vaak gezien als éénvan de grootste uitdagingen. 

The ability, or lack of ability, to interact successfully with people around oneself and to function as an independent and autonomous communicator in society has a major impact on quality of life and on participation and well-being. Of all the aspects of Rett syndrome that individuals and families experience, difficulties in communication are often rated as one of the biggest challenges.

Publicaties

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.

Townend GS, Bartolotta TE, Urbanowicz A, Wandin H, Curfs LMG. (In press). Development of consensus-based guidelines for managing communication in individuals with Rett syndrome. Augmentative and Alternative Comm

de Breet, L. H., Townend, G. S., Curfs, L. M., Kingma, H., Smeets, E. E., Lucieer, F., 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.

Ehrhart, F., Willighagen, E., Kutmon, M., Van Hoften, M., Sangani, N. B., Curfs, L., & Evelo, C. (2019). History of rare diseases and their genetic causes-a data driven approach. BioRxiv, 595819.

Ehrhart, F., Coort, S. L., Eijssen, L., Cirillo, E., Smeets, E. E., Bahram Sangani, N., Evelo, C.T., & Curfs, L. M. (2019). Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes. The World Journal of Biological Psychiatry, 1-14.

Miller, R. A., Ehrhart, F., Eijssen, L. M., Slenter, D. N., Curfs, L. M., Evelo, C. T., Willighagen, E.L., & Kutmon, M. (2019). Beyond pathway analysis: Identification of active subnetworks in Rett syndrome. Frontiers in genetics, 10, 59.

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LMG. Rett syndrome- biological pathways leading from MECP2 to disorder phenotypes. Orphanet Journal of Rare Diseases. 2016; 11(1):158.

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LMG. New insights in Rett syndrome using pathway analysis for transcriptomics data. Wiener Medizinische Wochenschrift. 2016;166(11-12): 346-52.

Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs LMG (2016). Neurophysiology versus clinical genetics in Rett syndrome: a multicenter study. American Journal of Medical Genetics A, 170(9):2301-9.

Townend GS, Marschik PB, Smeets E, van de Berg R, van den Berg M, Curfs LMG. 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. 2016; 28:101-112.

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.

Townend GS, Bartl-Pokorny KD, Sigafoos J, Curfs LMG, Bölte 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.

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(1):17-26.

Halbach (2013). Clinical Management of Rett Syndrome (proefschrift).

Halbach NSJ, Smeets EEJ, Steinbusch C, Maaskant MA, van Waardenburg D & Curfs LMG (2012). Aging in Rett syndrome; a longitudinal study. Clinical Genetics, 84(3): 223-9.

Halbach NSJ, Smeets EEJ, Bierau J, Keularts IMLW, Plasqui G, Julu POO, Witt Engerström I, Bakker J, Curfs LMG (2012). Altered carbon dioxide metabolism and creatine abnormalities in Rett Syndrome. Journal of Inherited Metabolic Diseases Reports, 3, 117-124.

Halbach NSJ, Smeets EEJ, van den Braak N, van Roozendaal KEP, Blok RMJ, Schrander-Stumpel CTRM, Frijns JP, Maaskant MA & Curfs LMG (2012). Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet A. 158A (2), 340-50.

Smeets EEJ, Pelc K & Dan B (2012). Rett syndrome. Molecular Syndromology, 2 (3-5), 113-127.

Giesbers S, Didden R, Radstaake M, Korzilius H, von Gontard A, Lang R, Smeets EEJ & Curfs LMG. Incontinence in individuals with Rett syndrome; a comparative study. Journal of Developmental and Physical Disabilities, 24 (3), 287-300.

Smeets EEJ, Chenault M, Curfs LMG, Schrander-Stumpel CT & Frijns JP (2009). Rett syndrome and long-term disorder profile. American Journal of Medical Genetics A. 149A(2): 199-205.

Halbach, N.S.J., Smeets, E.E.J., Schrander-Stumpel, C.T.R.M.,, Maaskant, M.A., Van Schrojenstein Lantman-de Valk H.M.J., Curfs, L.M.G. (2008) Ageing in people with specific genetic syndromes: Rett Syndrome. American Journal of Medical Genetics A, 146A: 1925-32.

 

Abstracts

Smeets EEJ, Thiry P, Halbach NSJ, van Waardenburg DA & Curfs LMG (2014). Rett syndrome and older age. Journal of Applied Research in Intellectual Disabilities, 27(4), 309.

van Waardenburg DA, Smeets EEJ, Halbach NSJ & Curfs LMG. Growth faltering and osteoporosis in Rett syndrome. Journal of Applied Research in Intellectual Disabilities, 27(4), 309.

Halbach NSJ, Smeets EEJ, Schrander-Stumpel CTRM, Maaskant MA, Curfs LMG (2010). Ageing in people with specific genetic syndromes: Rett syndrome. Journal of Applied Research in Intellectual Disabilities, 23 (5): 410.

Halbach NSJ, Smeets EEJ, Bierau J, Keuls I, Julu POO, Witt Engerström I, Hansen S, Apartopopoulos F, Engerstrom B, Pini G, Delamont R, Bakker J, Curfs LMG (2010). A systematic metabolic approach to the evaluation of nutrition in rett syndrome. Journal of Applied Research in Intellectual Disabilities, 23 (5), 475.

Al-Rawas S, Delamont R, Witt Engerström I, Hansen S, Apartopoulus F, Smeets EEJ, Curfs LMG, Pini I, Juli POO, Halbach NSJ, Bigoni S (2010), 23 (5), 475.

 

Internationale & nationale presentaties – webinars

Documentatie

CONGRES, WORKSHOP & WEBINAR PRESENTATIES 2020

INTERNATIONALE PRESENTATIES – WEBINARS
• 11 mei 2020, Facebook Live webcast, Rettsyndrome.org: Intervention strategies for developing communication skills, part III. (Dr. Gillian Townend & Prof. Theresa Bartolotta, Monmouth University, USA)
• 4 mei 2020, Facebook Live webcast, Rettsyndrome.org: Intervention strategies for developing communication skills, part II. (Dr. Gillian Townend & Prof. Theresa Bartolotta, Monmouth University, USA)
• 27 april 2020, Facebook Live webcast, Rettsyndrome.org: Intervention strategies for developing communication skills, part I. (Dr. Gillian Townend & Prof. Theresa Bartolotta, Monmouth University, USA)
• 30 maart 2020, Facebook Live webcast, Rettsyndrome.org: Communication engagement strategies. (Dr. Gillian Townend & Prof. Theresa Bartolotta, Monmouth University, USA)

INTERNATIONALE PRESENTATIES – VOORDRACHTEN 2020
• 3 maart 2020, Rett Syndrome Education Day, Odense, Denmark
– Dr. Gillian Townend: Assessment of receptive language and cognition in individuals with Rett syndrome.
– Dr. Gillian Townend: Rett syndrome communication guidelines – a handbook for therapists, educators and families.
– Drs. Hanneke Borst: Rett syndrome and physical therapy in the Netherlands.

NATIONALE PRESENTATIES – WEBINARS 2020
• 30 april 2020, webinar – Netwerk Rett syndroom & Logopedie en UK Network for Speech & Language Therapists working with people with Rett syndrome: Reading Avenue (Gill Townend & Gerna Scholte met Tina Voizey, Tobii Dynavox, USA)
• 15 april 2020, webinar – Netwerk Rett syndroom & Logopedie: Lees Ontwikkeling en Spelling (LOeS) werkwijze (Gill Townend & Gerna Scholte met Loes Theunissen, Sint Maartenskliniek, NL)
• 2 april 2020, webinar – Netwerk Rett syndroom & Logopedie en UK Network for Speech & Language Therapists working with people with Rett syndrome: Comprehensive Literacy Instruction for Beginning Conventional Learners: Translating Theory into Practice (Gill Townend & Gerna Scholte met Maureen Donnelly, Tobii Dynavox, USA)
• 6 maart 2020, webinar – Netwerk Rett syndroom & Logopedie en UK Network for Speech & Language Therapists working with people with Rett syndrome: Comprehensive Literacy Instruction for Emergent Learners: Translating Theory into Practice (Gill Townend, Gerna Scholte & Callie Ward met Maureen Donnelly, Tobii Dynavox, USA)
• 19 februari 2020, webinar – Netwerk Rett syndroom & Logopedie en UK Network for Speech & Language Therapists working with people with Rett syndrome: Why is Literacy Critical in AAC? (Gill Townend, Gerna Scholte & Callie Ward met opname van dr. Karen Erickson, Center for Literacy and Disability Studies, Chapel Hill, USA)

NATIONALE PRESENTATIES – WORKSHOPS 2020
• 31 januari 2020, multidisciplinaire studiedag voor ouders en professionals – Samenwerking in Teams: Hoe zet je als team de eerste stappen in Ondersteunde Communicatie? (geleid door Gill Townend & Hanneke Borst)

INTERNATIONALE PRESENTATIES – VOORDRACHTEN 2019
• 27 & 28 september 2019, 6th European Rett Syndrome conference, Tampere, Finland
– Dr. Gillian Townend: Assessing underlying skills of individuals with Rett syndrome
– Dr. Gillian Townend: Organiser of Country Updates session for European Rett Associations (participation of 26 countries with 29 posters)
• 10 september 2019, Communication Matters Conference, Leeds, UK
– Dr. Gillian Townend: International guidelines for management of communication in individuals with Rett syndrome.
• 25 april 2019, Faculty and students of Speech-Language Pathology Department, Monmouth University, NJ, USA
– Gillian Townend: Speech-language pathology & AAC services and support for people with physical and/or intellectual disabilities – a European perspective.
• 30 maart 2019, Congres georganiseerd door Caritas Education Center for Social Services – ‘Augmentative and Alternative Communication’, St. Petersburg, USSR
– Gillian Townend: International Guidelines for the Management of Communication in Individuals with Rett Syndrome. (video opname)

INTERNATIONALE PRESENTATIES – WEBINARS 2019
• 15 oktober 2019, Rett Ed Webinar, Rettsyndrome.org: Newly-published communication guidelines for Rett. (Dr. Gillian Townend & Prof. Theresa Bartolotta, Monmouth University, USA)

NATIONALE PRESENTATIES – WEBINARS 2019
• 8 november 2019, webinar – Netwerk Rett syndroom & Logopedie en Netwerk Rett syndroom & Fysiotherapie: Ouder worden met Rett (Dr. E. Smeets met Dr. Gill Townend, Gerna Scholte & Hanneke Borst)
• 5 september 2019, webinar – Netwerk Rett syndroom & Logopedie en UK Network for Speech & Language Therapists working with people with Rett syndrome: Addressing complex communication needs of individuals with Rett syndrome via telehealth (Dr. Gill Townend & Gerna Scholte met Dr. Jennifer McComas, University of Minnesota, USA)
• januari – maart 2019, webinar-serie over oogbesturing– Netwerk Rett syndroom & Logopedie
– 1 maart, KMD Create (Gerna Scholte met Jasper Harmsen, KMD)
– 22 februari, Mind Express & ALOHA 1 & 2 (Gill Townend & Gerna Scholte met Mandy Diepeveen, Ans Kilkens, Loes Theunissen & Hanny Weersink, Sint Maartenskliniek)
– 15 februari, Grid 3 & Super Core (Gill Townend & Gerna Scholte)
– 8 februari, PODD in Mind Express (Gerna Scholte)
– 1 februari, Communicator 5 (Gerna Scholte)
– 18 januari, Snap + Core First (Gill Townend & Gerna Scholte)
– 11 januari, Een overzicht van beschikbare hardware, software & leveranciers (Gill Townend & Gerna Scholte)

NATIONALE PRESENTATIES – WORKSHOPS 2019
• 11 oktober 2019, studiedag – Netwerk Rett syndroom & Logopedie (geleid door Dr. Gill Townend)
• 14 juni 2019, multidisciplinaire studiedag voor professionals – Samenwerking in Teams: Hoe zet je als team de eerste stappen in Ondersteunde Communicatie? (geleid door Gill Townend, Gerna Scholte & Hanneke Borst)
• 15 maart 2019, studiedag – Netwerk Rett syndroom & Logopedie (geleid door Gill Townend)

 

Internationale & nationale presentaties – voordrachten

Smeets EEJ, Thiry P, Halbach NSJ, van Waardenburg DA & Curfs LMG (2014). Rett syndrome and older age. IASSIDD Europe Regional Congress, Vienna, Austria, 14-17 July 2014.

van Waardenburg DA, Smeets EEJ, Halbach NSJ & Curfs LMG. Growth faltering and osteoporosis in Rett syndrome. IASSIDD Europe Regional Congress, Vienna, Austria, 14-17 July 2014.

Halbach NSJ. Altered carbin dioxide metabolism and creatine abnormalities in rett syndrome. 2nd European Rett Syndrome Congres (2010). Edinburgh, Schotland.

Halbach NSJ. Altered carbon dioxide metabolism and creatine abnormalities in Rett syndrome. 3rd IASSID Conference (2010). Rome , Italië.

Halbach NSJ. Ageing in Rett syndrome. 3rd IASSID Conference (2010) Rome, Italië.

Halbach NSJ. Ageing in Rett syndrome. 6th World Rett Syndrome Congress (2008). Parijs, Frankrijk.

 

Internationale presentaties – posterpresentaties

Hansen S, Julu POO, Witt Engerström I, Apartopoulus D, Delamont RS, Smeets EEJ, Curfs LMG, Pini G, Bigoni S, Halbach NSJ. Brainstem autonomic abnormality causes attacks that mimic clinical seizures. 28th International Epilepsy Congress (2009) Boedapest, Hongarije.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Ageing in people with specific genetic syndromes: Rett syndrome. Kennismarkt (2009). Ijsselstein, Nederland.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Ageing in people with specific genetic syndromes: Rett syndrome. NVHG voorjaarssymposium (2009). Veldhoven, Nederland.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Rosias P, Curfs LM. Wat als meisjes met het Rett syndroom ouder worden? NVK congres (2008). Veldhoven, Nederland.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Ageing in Rett syndrome, David W. Smith Workshop (2007). Williamsburg, USA.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Ageing in Rett syndrome. 18th European Meeting on Dysmorphology (2007). Strasbourg, France.

 

Nederlandse publicaties

Halbach NS, Smeets E, Bierau J, Keularts I, Bakker J, Curfs L (2012). Het Rett-syndroom ontrafeld. Katern (kenniskatern bij Markant), 8, 12-15.

Halbach NS. Syndromen en veroudering: Het rett syndroom. Focus op onderzoek: symposium ‘syndroomspecifieke veroudering’ (2007). Amsterdam, Nederland.

 

Posters

Halbach NSJ, Smeets EEJ, Steinbusch C, Maaskant MA, van Waardenburg DA & Curfs LMG. Ageing in Rett Syndrome: a longitudinal study. 7th World Rett Syndrome (2012). New Orleans, USA.

Hansen S, Julu POO, Witt Engerström I, Apartopoulus F, Delamont RS, Smeets EEJ, Curfs LMG, Pini G, Bigoni S & Halbach N. Brainstem autonomic abnormality causes attacks that mimic clinical seizures. 7th World Rett Syndrome Congress (2012). New Orleans, USA.

Pini G, Bigoni S, Ferlini A, Carturan S, Baldi J, Felloni B, Scusa MF, Di Marco P, Julu POO, Witt Engerström I, Hansen S, Apartopoulus F, Engerström B, Delamont RS, Smeets EEJ, Curfs LMG, Berardinelli A, Orcesi S, Romanelli A, Bianchi F & Zappella M. Congenital variant of Rett syndrome; clinical and autonomic description of 7 causes. 7th World Rett Syndrome Congress (2012). New Orleans, USA.

Halbach NSJ, Smeets EEJ, Bierau J, Keularts I, Julu POO, Witt Engerström I, Engerström B, Hansen S, Apartopoulus F, Pini G, Bigoni S, Delamont RS, Bakker J & Curfs LMG. A systematic metabolic approach to the evaluation of nutrition in rett syndrome according to the cardiorespiratory phenotype in Dutch rett girls. 7th World Rett Syndrome Congress (2012). New Orleans, USA.

Pini G, Bigoni S, Ferlini A, Neri M, Gualandi F, Baldi I, Felloni B, Scusa MF, Di Marco P, Julu POO, Witt Engerström I, Hansen S, Apartopoulus F, Engerström B, Delamont RS, Smeets EEJ, Curfs LMG, Ariani F, Romanelli A, Bianchi F & Zappella M. Description of an Italian population of 117 people with rett syndrome. 7th World Rett Syndrome Congress (2012). New Orleans, USA.

Julu POO, Engerström B, Witt Engerström I, Hansen S, Apartopoulus F, Halbach NSJ, Smeets EEJ, Pini G, Bigoni S, Delamont RS, Al-Rawas S & Curfs LMG (2012). 7th World Rett Syndrome Congress (2012). New Orleans, USA.

Julu Poo, Hansen S, Smeets EEJ, Witt Engerström I, Delamont RS, Apartopoulus F, Pini G, Bigoni S & Curfs LMG. Brainstem autonomic influence on corticol epileptiform activity: evidence of a relationship to oxygenation. 7th World Rett Syndrome Congress (2012). New Orleans, USA.