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Articles

Medical Issues in Adults with Rett Syndrome – A National Survey

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Pages 106-112 | Received 29 Jan 2019, Accepted 16 Jul 2019, Published online: 25 Jul 2019

References

  • GBD 2017 Mortality Collaborators. Global, regional, and national age-sex-specific mortality and life expectancy, 1950–2017: a systematic analysis for the global burden of disease study 2017. Lancet. 2018;392(10159):1684–735. doi:10.1016/s0140-6736(18)31891-9.
  • Carter G, Jancar J. Mortality in the mentally handicapped: a 50 year survey at the Stoke Park group of hospitals (1930–1980). J Ment Defic Res. 1983;27:143–56.
  • Glover G, Williams R, Heslop P, Oyinlola J, Grey J. Mortality in people with intellectual disabilities in England. J Intellect Disabil Res. 2017;61(1):62–74. doi:10.1111/jir.12314.
  • Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, Leonard H. Trends in the diagnosis of rett syndrome in Australia. Pediatr Res. 2011;70(3):313–19. doi:10.1203/PDR.0b013e3182242461.
  • Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: a review of the epidemiology. J Pediatr. 2006;148(3):347–52. doi:10.1016/j.jpeds.2005.10.037.
  • Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944–50. doi:10.1002/ana.22124.
  • Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014;51(3):152–58. doi:10.1136/jmedgenet-2013-102113.
  • Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1966;116:723–26.
  • Freilinger M, Bebbington A, Lanator I, De Klerk N, Dunkler D, Seidl R, Leonard H, Ronen GM. Survival with rett syndrome: comparing rett’s original sample with data from the Australian rett syndrome database. Dev Med Child Neurol. 2010;52(10):962–65. doi:10.1111/j.1469-8749.2010.03716.x.
  • Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The changing face of survival in rett syndrome and MECP2-related disorders. Pediatr Neurol. 2015;53(5):402–11. doi:10.1016/j.pediatrneurol.2015.06.003.
  • Halbach NS, Smeets EE, Steinbusch C, Maaskant MA, van Waardenburg D, Curfs LM. Aging in rett syndrome: a longitudinal study. Clin Genet. 2013;84(3):223–29. doi:10.1111/cge.12063.
  • Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017;140(Pt 2):306–18. doi:10.1093/brain/aww302.
  • Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E. Epilepsy in classic rett syndrome: course and characteristics in adult age. Epilepsy Res. 2018;145:134–39. doi:10.1016/j.eplepsyres.2018.06.012.
  • Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55(3):292–98. doi:10.1097/MPG.0b013e31824b6159.
  • Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, et al. The course of awake breathing disturbances across the lifespan in rett syndrome. Brain Dev. 2018;40(7):515–29. doi:10.1016/j.braindev.2018.03.010.
  • Cass H, Reilly S, Owen L, Wisbeach A, Weekes L, Slonims V, Wigram T, Charman T. Findings from a multidisciplinary clinical case series of females with rett syndrome. Dev Med Child Neurol. 2003;45:325–37.
  • Anderson A, Wong K, Jacoby P, Downs J, Leonard H. Twenty years of surveillance in rett syndrome: what does this tell us? Orphanet J Rare Dis. 2014;9:87. doi:10.1186/1750-1172-9-87.
  • Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. Medical care of adolescents and women with rett syndrome: an Italian study. Am J Med Genet A. 2012;158a(1):13–18. doi:10.1002/ajmg.a.34367.
  • Juliusson PB, Roelants M, Eide GE, Moster D, Juul A, Hauspie R, Waaler PE, Bjerknes R. Growth references for Norwegian children. Tidsskr Nor Laegeforen. 2009;129(4):281–86. doi:10.4045/tidsskr.09.32473.
  • ILAE Commission Report. The epidemiology of the epilepsies: future directions. International league against epilepsy. Epilepsia. 1997;38(5):614–18.
  • Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, et al. Social impairments in rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res. 2012;56(3):233–47. doi:10.1111/j.1365-2788.2011.01404.x.
  • Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Describing the phenotype in rett syndrome using a population database. Arch Dis Child. 2003;88(1):38–43. doi:10.1136/adc.88.1.38.
  • Schonewolf-Greulich B, Stahlhut M, Larsen JL, Syhler B, Bisgaard AM. Functional abilities in aging women with rett syndrome - the danish cohort. Disabil Rehabil. 2017;39(9):911–18. doi:10.3109/09638288.2016.1170896.
  • Foley KR, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann WE, Leonard H. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. J Child Neurol. 2011;26(10):1237–45. doi:10.1177/0883073811402688.
  • Stahlhut M, Downs J, Aadahl M, Leonard H, Bisgaard AM, Nordmark E. Patterns of sedentary time and ambulatory physical activity in a danish population of girls and women with rett syndrome. Disabil Rehabil. 2017:1–9. doi:10.1080/09638288.2017.1381181.
  • Andrews J, Leonard H, Hammond GC, Girdler S, Rajapaksa R, Bathgate K, Downs J. Community participation for girls and women living with rett syndrome. Disabil Rehabil. 2014;36(11):894–99. doi:10.3109/09638288.2013.813083.
  • Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, Jacoby P, Thomson MR, Izatt MT, Askin GN, et al. The natural history of scoliosis in females with rett syndrome. Spine (Phila Pa 1976). 2016;41(10):856–63. doi:10.1097/brs.0000000000001399.
  • Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, 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):E607–617. doi:10.1097/BRS.0b013e3181a95ca4.
  • Stahlhut M Healthenhancing participation in girls and women with rett syndrome - a balancing act. [dissertation] Lund (Sweden): Lund University, Faculty of Medicine; 2018.
  • Jacobsen K, Viken A, von Tetzchner S. Rett syndrome and ageing: a case study. Disabil Rehabil. 2001;23:160–66.
  • MacKay J, Leonard H, Wong K, Wilson A, Downs J. Respiratory morbidity in rett syndrome: an observational study. Dev Med Child Neurol. 2018;60(9):951–57. doi:10.1111/dmcn.13726.
  • de Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J. Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ. 2007;85(9):660–67. doi:10.2471/blt.07.043497.
  • Reilly S, Cass H. Growth and nutrition in rett syndrome. Disabil Rehabil. 2001;23:118–28.
  • Thommessen M, Kase BF, Heiberg A. Growth and nutrition in 10 girls with rett syndrome. Acta Paediatr. 1992;81:686–90.
  • Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, et al. Assessment and management of nutrition and growth in rett syndrome. J Pediatr Gastroenterol Nutr. 2013;57(4):451–60. doi:10.1097/MPG.0b013e31829e0b65.
  • Camilleri M, Ford AC, Mawe GM, Dinning PG, Rao SS, Chey WD, Simren M, Lembo A, Young-Fadok TM, Chang L. Chronic constipation. Nat Rev Dis Primers. 2017;3:17095. doi:10.1038/nrdp.2017.95.
  • Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, et al. Epilepsy and the natural history of rett syndrome. Neurology. 2010;74(11):909–12. doi:10.1212/WNL.0b013e3181d6b852.
  • Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of rett syndrome. Acta Paediatr. 2001;90:34–39.
  • Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol. 1994;11:5–11.

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