Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

References

• Alonso-Coello, P., Irfan, A., Solà, I., Gich, I., Delgado-Noguera, M., Rigau, D., … Schunemann, H. (2010). The quality of clinical practice guidelines over the last two decades: A systematic review of guideline appraisal studies. Quality & Safety in Health Care, 19(6), e58. doi:10.1136/qshc.2010.042077
   PubMedGoogle Scholar
• American Speech-Language-Hearing Association. (n.d.). Assessing the Evidence. Retrieved from: https://web.archive.org/web/20181022010841/https://www.asha.org/Research/EBP/Assessing-the-Evidence/
   Google Scholar
• Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23(2), 185–188. doi:10.1038/13810
   PubMed Web of Science ®Google Scholar
• Bartolotta, T. E., & Remshifski, P. A. (2013). Coaching communication partners: A preliminary investigation of communication intervention during mealtime in Rett syndrome. Communication Disorders Quarterly, 34(3), 162–171. doi:10.1177/1525740112453165
   Web of Science ®Google Scholar
• Bartolotta, T. E., Zipp, G. P., Simpkins, S. D., & Glazewski, B. (2011). Communication skills in girls with Rett Syndrome. Focus on Autism and Other Developmental Disabilities, 26(1), 15–24. doi:10.1177/1088357610380042
   Web of Science ®Google Scholar
• Baxter, S., Enderby, P., Evans, P., & Judge, S. (2012). Barriers and facilitators to the use of high-technology augmentative and alternative communication devices: A systematic review and qualitative synthesis.International Journal of Language & Communication Disorders, 47(2), 115–129. doi:10.1111/j.1460-6984.2011.00090.x
   Google Scholar
• Beukelman, D. R., & Mirenda, P. (2013). Augmentative and alternative communication: Supporting children and adults with complex communication needs. Baltimore, MD: Brookes.
   Google Scholar
• Brady, N. C., Bruce, S., Goldman, A., Erickson, K., Mineo, B., Ogletree, B. T., … Wilkinson, K. (2016). Communication services and supports for individuals with severe disabilities: Guidance for assessment and intervention. American Journal on Intellectual and Developmental Disabilities, 121(2), 121–138. doi:10.1352/1944-7558-121.2.121
   PubMedGoogle Scholar
• Byiers, B. J., Dimian, A., & Symons, F. J. (2014). Functional communication training in Rett syndrome: A preliminary study. American Journal on Intellectual and Developmental Disabilities, 119(4), 340–350. doi:10.1352/1944-7558-119.4.340
   PubMedGoogle Scholar
• Byiers, B., & Symons, F. (2012). Issues in estimating developmental level and cognitive function in Rett Syndrome. International Review of Research in Developmental Disabilities, 43, 147–185. doi:10.1016/B978-0-12-398261-2.00004-0
   Web of Science ®Google Scholar
• Byiers, B., & Symons, F. (2013). The need for unbiased cognitive assessment in Rett syndrome: Is eye tracking the answer? Developmental Medicine and Child Neurology, 55(4), 301–302. doi:10.1111/dmcn.12088
   PubMed Web of Science ®Google Scholar
• Didden, R., Korzilius, H., Smeets, E., Green, V. A., Lang, R., Lancioni, G. E., & Curfs, L. M. (2010). Communication in individuals with Rett syndrome: An assessment of forms and functions. Journal of Developmental and Physical Disabilities, 22(2), 105–118. doi:10.1007/s10882-009-9168-2
   PubMed Web of Science ®Google Scholar
• Dietz, A., Quach, W., Lund, S. K., & McKelvey, M. (2012). AAC assessment and clinical-decision making: The impact of experience. Augmentative and Alternative Communication, 28(3), 148–159. doi:10.3109/07434618.2012.704521
   PubMed Web of Science ®Google Scholar
• Djukic, A., & McDermott, M. V. (2012). Social preferences in Rett syndrome. Pediatric Neurology, 46(4), 240–242. doi:10.1016/j.pediatrneurol.2012.01.011
   PubMed Web of Science ®Google Scholar
• Downs, J., Bergman, A., Carter, P., Anderson, A., Palmer, G. M., Roye, D., … Leonard, H. (2009). Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine, 34(17), E607–E617. doi:10.1097/BRS.0b013e3181a95ca4
   PubMed Web of Science ®Google Scholar
• Eccles, M. P., Grimshaw, J. M., Shekelle, P., Schunemann, H. J., & Woolf, S. (2012). Developing clinical practice guidelines: Target audiences, identifying topics for guidelines, guideline group composition and functioning and conflicts of interest. Implementation Science, 7, 60. doi:10.1186/1748-5908-7-60
   PubMed Web of Science ®Google Scholar
• Fehr, S., Bebbington, A., Nassar, N., Downs, J., Ronen, G. M., Klerk de, N., & Leonard, H. (2011). Trends in the diagnosis of Rett syndrome in Australia. Pediatric Research, 70(3), 313–319. doi:10.1203/PDR.0b013e3182242461
   PubMed Web of Science ®Google Scholar
• Guyatt, G. H., Oxman, A. D., Vist, G. E., Kunz, R., Falck-Ytter, Y., Alonso-Coello, P., & Schünemann, H. J. (2008). GRADE: An emerging consensus on rating quality of evidence and strength of recommendations. BMJ (Clinical Research ed.), 336(7650), 924–926. doi:10.1136/bmj.39489.470347.AD
   PubMed Web of Science ®Google Scholar
• Haywood, H., & Lidz, C. (2007). Dynamic assessment in practice: Clinician and educational applications. New York: Cambridge University Press.
   Google Scholar
• Holmqvist, E., Thunberg, G., & Peny Dahlstrand, M. (2018). Gaze-controlled communication technology for children with severe multiple disabilities: Parents and professionals’ perception of gains, obstacles, and prerequisites. Assistive Technology: The Official Journal of RESNA, 30(4), 201–208. doi:10.1080/10400435.2017.1307882
   PubMed Web of Science ®Google Scholar
• Institute of Medicine Committee to Advise the Public Health Service on Clinical Practice Guidelines. (1990). M. J. Field & K. N. Lohr (Eds.), Clinical Practice Guidelines: Directions for a New Program. Washington (DC): National Academies Press (US).
   Google Scholar
• Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., … Downs, J. (2016). Clinical guidelines for management of bone health in Rett Syndrome based on expert consensus and available evidence. PLoS One, 11(2), e0146824doi:10.1371/journal.pone.0146824
   PubMed Web of Science ®Google Scholar
• Judge, S., & Townend, G. (2013). Perceptions of the design of voice output communication aids. International Journal of Language & Communication Disorders, 48(4), 366–381. doi:10.1111/1460-6984.12012
   PubMed Web of Science ®Google Scholar
• Kredo, T., Bernhardsson, S., Machingaidze, S., Young, T., Louw, Q., Ochodo, E., & Grimmer, K. (2016). Guide to clinical practice guidelines: The current state of play. International Journal for Quality in Health Care: Journal of the International Society for Quality in Health Care, 28(1), 122–128. doi:10.1093/intqhc/mzv115
   PubMed Web of Science ®Google Scholar
• Lancioni, G. E., Singh, N. N., O’Reilly, M. F., Sigafoos, J., Boccasini, A., La Martire, M. L., … Sacco, V. (2014). Microswitch-aided programs for a woman with Rett syndrome and a boy with extensive neuro-motor and intellectual disabilities. Journal of Developmental and Physical Disabilities, 26(2), 135–143. doi:10.1007/s10882-013-9349-x
   Web of Science ®Google Scholar
• Laurvick, C. L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., … Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. The Journal of Pediatrics, 148(3), 347–352. doi:10.1016/j.jpeds.2005.10.037
   PubMed Web of Science ®Google Scholar
• Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., … Downs, J. (2013). Assessment and management of nutrition and growth in Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition, 57(4), 451–460. doi:10.1097/MPG.0b013e31829e0b65
   PubMed Web of Science ®Google Scholar
• Light, J., & McNaughton, D. (2014). Communicative competence for individuals who require augmentative and alternative communication: A new definition for a new era of communication? Augmentative and Alternative Communication, 30(1), 1–18. doi:10.3109/07434618.2014.885080
   PubMed Web of Science ®Google Scholar
• Mei, C., Anderson, V., Waugh, M. C., Cahill, L., & Morgan, A. T. (2018). Evidence- and consensus-based guidelines for the management of communication and swallowing disorders following pediatric traumatic brain injury. The Journal of Head Trauma Rehabilitation, 33(5), 326–341. doi:10.1097/htr.0000000000000366
   PubMed Web of Science ®Google Scholar
• Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., … Percy, A. K. (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944–950. doi:10.1002/ana.22124
   PubMed Web of Science ®Google Scholar
• Neul, J. L., Lane, J. B., Lee, H.-S., Geerts, S., Barrish, J. O., Annese, F., … Percy, A. K. (2014). Developmental delay in Rett syndrome: Data from the natural history study. Journal of Neurodevelopmental Disorders, 6(1), 20. doi:10.1186/1866-1955-6-20
   PubMed Web of Science ®Google Scholar
• Reichow, B., George-Puskar, A., Lutz, T., Smith, I. C., & Volkmar, F. R. (2015). Brief report: Systematic review of Rett syndrome in males. Journal of Autism and Developmental Disorders, 45(10), 3377–3383. doi:10.1007/s10803-015-2519-1
   PubMed Web of Science ®Google Scholar
• Renieri, A., Mari, F., Mencarelli, M. A., Scala, E., Ariani, F., Longo, I., … Zappella, M. (2009). Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain & Development, 31(3), 208–216. doi:10.1016/j.braindev.2008.04.007
   PubMed Web of Science ®Google Scholar
• Romski, M., & Sevcik, R. A. (2005). Augmentative communication and early intervention: Myths and realities. Infants & Young Children, 18(3), 174–185. doi:10.1097/00001163-200507000-00002
   Web of Science ®Google Scholar
• Romski, M., Sevcik, R. A., Barton-Hulsey, A., & Whitmore, A. S. (2015). Early intervention and AAC: What a difference 30 years makes. Augmentative and Alternative Communication, 31(3), 181–202. doi:10.3109/07434618.2015.1064163
   PubMed Web of Science ®Google Scholar
• Sandelowski, M. (2000). Whatever happened to qualitative description? Research in Nursing & Health, 23(4), 334–340. doi:10.1002/1098-240X(200008)23:4 < 334::AID-NUR9 > 3.0.CO;2-G
   PubMed Web of Science ®Google Scholar
• Schönewolf-Greulich, B., Stahlhut, M., Larsen, J. L., Syhler, B., & Bisgaard, A. (2017). Functional abilities in aging women with Rett syndrome – the Danish cohort. Disability and Rehabilitation, 39(9), 911–918. doi:10.3109/09638288.2016.1170896
   PubMed Web of Science ®Google Scholar
• Scottish Intercollegiate Guidelines Network (SIGN). (2015). SIGN 50: A guideline developer’s handbook. Edinburgh: SIGN.
   Google Scholar
• Sejersen, T., Giovane, C.D., Filippini, G., Leo, C.G., Meerpohl, J., Mincarone, P., Minozzi, S., Sabina, S., Schünemann, H.J., Senecat, J., Taruscio, D., & Panos, G. (2014). Methodology for production of best practice guidelines for rare diseases. Rare Diseases and Orphan Drugs, 1, 10–19.
   Google Scholar
• Shekelle, P., Woolf, S., Grimshaw, J. M., Schunemann, H. J., & Eccles, M. P. (2012). Developing clinical practice guidelines: Reviewing, reporting, and publishing guidelines; updating guidelines; and the emerging issues of enhancing guideline implementability and accounting for comorbid conditions in guideline development. Implementation Science, 7, 62. doi:10.1186/1748-5908-7-62
   PubMed Web of Science ®Google Scholar
• Sigafoos, J., Green, V. A., Schlosser, R., O’eilly, M. F., Lancioni, G. E., Rispoli, M., & Lang, R. (2009). Communication intervention in Rett syndrome: A systematic review. Research in Autism Spectrum Disorders, 3(2), 304–318. doi:10.1016/j.rasd.2008.09.006
   Web of Science ®Google Scholar
• Simacek, J., Reichle, J., & McComas, J. J. (2016). Communication intervention to teach requesting through aided AAC for two learners with Rett syndrome. Journal of Developmental and Physical Disabilities, 28(1), 59–81. doi:10.1007/s10882-015-9423-7
   Web of Science ®Google Scholar
• Stasolla, F., & Caffò, A. O. (2013). Promoting adaptive behaviors by two girls with Rett syndrome through a microswitch-based program. Research in Autism Spectrum Disorders, 7(10), 1265–1272. doi:10.1016/j.rasd.2013.07.010
   Web of Science ®Google Scholar
• Stasolla, F., De Pace, C., Damiani, R., Di Leone, A., Albano, V., & Perilli, V. (2014). Comparing PECS and VOCA to promote communication opportunities and to reduce stereotyped behaviors by three girls with Rett syndrome. Research in Autism Spectrum Disorders, 8(10), 1269–1278. doi:10.1016/j.rasd.2014.06.009
   Web of Science ®Google Scholar
• Stasolla, F., Perilli, V., Di Leone, A., Damiani, R., Albano, V., Stella, A., & Damato, C. (2015). Technological aids to support choice strategies by three girls with Rett syndrome. Research in Developmental Disabilities, 36, 36–44. doi:10.1016/j.ridd.2014.09.017
   PubMed Web of Science ®Google Scholar
• Townend, G. S., Kaufmann, W. E., Marschik, P. B., Fabio, R. A., Sigafoos, J., & Curfs, L. M. G. (2017). Cognition, communication and behavior in individuals with Rett Syndrome. In W. E. Kaufmann (Ed.), Rett syndrome (1st ed., p. 50–61). London: Mac Keith Press.
   Google Scholar
• Townend, G. S., Marschik, P. B., Smeets, E., van de Berg, R., van den Berg, M., & 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, 101–112. doi:10.1007/s10882-015-9455-z
   PubMed Web of Science ®Google Scholar
• Townend, G. S., Smeets, E., van Waardenburg, D., van der Stel, R., van den Berg, M., van Kranen, H. J., & Curfs, L. M. G. (2015). Rett syndrome and the role of national parent associations within a European context. Rare Diseases and Orphan Drugs, 2, 17–26.
   Google Scholar
• Tuffrey-Wijne, I., McLaughlin, D., Curfs, L., Dusart, A., Hoenger, C., McEnhill, L., … Oliver, D. (2016). Defining consensus norms for palliative care of people with intellectual disabilities in Europe, using Delphi methods: A White Paper from the European Association of Palliative Care. Palliative Medicine, 30(5), 446–455. doi:10.1177/0269216315600993
   PubMed Web of Science ®Google Scholar
• Urbanowicz, A., Downs, J., Girdler, S., Ciccone, N., & Leonard, H. (2015). Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. American Journal of Medical Genetics. Part A, 167A(2), 354–362. doi:10.1002/ajmg.a.36871
   PubMed Web of Science ®Google Scholar
• Urbanowicz, A., Downs, J., Girdler, S., Ciccone, N., & Leonard, H. (2016). An exploration of the use of eye gaze and gestures in females with Rett syndrome. Journal of Speech, Language, and Hearing Research, 59(6), 1373–1383. doi:10.1044/2015_jslhr-l-14-0185
   PubMed Web of Science ®Google Scholar
• Urbanowicz, A., Leonard, H., Girdler, S., Ciccone, N., & Downs, J. (2016). Parental perspectives on the communication abilities of their daughters with Rett syndrome. Developmental Neurorehabilitation, 19(1), 17–25. doi:10.3109/17518423.2013.879940
   PubMed Web of Science ®Google Scholar
• Waggoner, J., Carline, J. D., & Durning, S. J. (2016). Is there a consensus on consensus methodology? Descriptions and recommendations for future consensus research. Academic Medicine: Journal of the Association of American Medical Colleges, 91(5), 663–668. doi:10.1097/acm.0000000000001092
   PubMed Web of Science ®Google Scholar
• Wandin, H., Lindberg, P., & Sonnander, K. (2015). Communication intervention in Rett syndrome: A survey of speech language pathologists in Swedish health services. Disability and Rehabilitation, 37(15), 1324–1333. doi:10.3109/09638288.2014.962109
   PubMed Web of Science ®Google Scholar
• Woolf, S. H., Grol, R., Hutchinson, A., Eccles, M., & Grimshaw, J. (1999). Clinical guidelines: Potential benefits, limitations, and harms of clinical guidelines. BMJ (Clinical Research ed.), 318(7182), 527–530. doi:10.1136/bmj.318.7182.527
   PubMed Web of Science ®Google Scholar
• Woolf, S., Schunemann, H. J., Eccles, M. P., Grimshaw, J. M., & Shekelle, P. (2012). Developing clinical practice guidelines: Types of evidence and outcomes; values and economics, synthesis, grading, and presentation and deriving recommendations. Implementation Science, 7, 61. doi:10.1186/1748-5908-7-61
   PubMed Web of Science ®Google Scholar
• World Health Organization. (2001). International Classification of Functioning, Disability and Health. Who: Geneva.
   Google Scholar