Clinical trial NCT05488938 - References

Rett Syndrome — Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application

Citation(s)

•   Ager S, Downs J, Fyfe S, Leonard H
  Parental experiences of scoliosis management in Rett syndrome. Disabil Rehabil. 2009;31(23):1917-24. doi: 10.1080/09638280902846392.
•   Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H
  Predictors of scoliosis in Rett syndrome. J Child Neurol. 2006 Sep;21(9):809-13. doi: 10.1177/08830738060210091501.
•   Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY
  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810.
•   Armstrong RA
  When to use the Bonferroni correction. Ophthalmic Physiol Opt. 2014 Sep;34(5):502-8. doi: 10.1111/opo.12131. Epub 2014 Apr 2.
•   Barney CC, Merbler AM, Quest K, Byiers BJ, Wilcox GL, Schwantes S, Roiko SA, Feyma T, Beisang A, Symons FJ
  A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery. Paediatr Anaesth. 2017 Mar;27(3):290-299. doi: 10.1111/pan.13066. Epub 2017 Feb 8.
•   Bassett GS, Tolo VT
  The incidence and natural history of scoliosis in Rett syndrome. Dev Med Child Neurol. 1990 Nov;32(11):963-6. doi: 10.1111/j.1469-8749.1990.tb08118.x.
•   Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H
  Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976). 2009 Aug 1;34(17):E607-17. doi: 10.1097/BRS.0b013e3181a95ca4.
•   Downs J, Torode I, Ellaway C, Jacoby P, Bunting C, Wong K, Christodoulou J, Leonard H
  Family satisfaction following spinal fusion in Rett syndrome. Dev Neurorehabil. 2016;19(1):31-7. doi: 10.3109/17518423.2014.898107. Epub 2014 Apr 11.
•   Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, Jacoby P, Thomson MR, Izatt MT, Askin GN, McPhee BI, Bridge C, Cundy P, Leonard H
  The Natural History of Scoliosis in Females With Rett Syndrome. Spine (Phila Pa 1976). 2016 May;41(10):856-63. doi: 10.1097/BRS.0000000000001399.
•   Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Izatt MT, Askin GN, Mcphee BI, Cundy P, Leonard H; Rett syndrome spinal fusion group
  Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study. Dev Med Child Neurol. 2016 Jun;58(6):632-8. doi: 10.1111/dmcn.12984. Epub 2015 Dec 11.
•   Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H
  Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. J Pediatr Orthop. 2009 Jun;29(4):369-74. doi: 10.1097/BPO.0b013e3181a53b41.
•   Fabio RA, Martinazzoli C, Antonietti A
  Development and standardization of the "RARS"(Rett Assessment Rating Scale). Life Span Disabil 2005; 8(2): 257-81.
•   Ferrari A, Ferrara C, Balugani M, Sassi S
  Severe scoliosis in neurodevelopmental disabilities: clinical signs and therapeutic proposals. Eur J Phys Rehabil Med. 2010 Dec;46(4):563-80.
•   Fombonne E, Simmons H, Ford T, Meltzer H, Goodman R
  Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health. Int Rev Psychiatry. 2003 Feb-May;15(1-2):158-65. doi: 10.1080/0954026021000046119.
•   Hagberg B, Witt-Engerstrom I
  Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl. 1986;1:47-59. doi: 10.1002/ajmg.1320250506.
•   Haleem S, Nnadi C
  Scoliosis: a review. Paediatr Child Health (Oxford) 2018; 28(5): 209-17. doi:10.1016/j.paed.2018.03.007.
•   Harrison DJ, Webb PJ
  Scoliosis in the Rett syndrome: natural history and treatment. Brain Dev. 1990;12(1):154-6. doi: 10.1016/s0387-7604(12)80200-2.
•   Huang TJ, Lubicky JP, Hammerberg KW
  Scoliosis in Rett syndrome. Orthop Rev. 1994 Dec;23(12):931-7.
•   Karimi MT, Rabczuk T
  Scoliosis conservative treatment: A review of literature. J Craniovertebr Junction Spine. 2018 Jan-Mar;9(1):3-8. doi: 10.4103/jcvjs.JCVJS_39_17.
•   Kerr AM, Webb P, Prescott RJ, Milne Y
  Results of surgery for scoliosis in Rett syndrome. J Child Neurol. 2003 Oct;18(10):703-8. doi: 10.1177/08830738030180101201.
•   Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
  Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
•   Kotwicki T, Jozwiak M
  Conservative management of neuromuscular scoliosis: personal experience and review of literature. Disabil Rehabil. 2008;30(10):792-8. doi: 10.1080/09638280801889584.
•   Larsson EL, Aaro S, Ahlinder P, Normelli H, Tropp H, Oberg B
  Long-term follow-up of functioning after spinal surgery in patients with Rett syndrome. Eur Spine J. 2009 Apr;18(4):506-11. doi: 10.1007/s00586-008-0876-6. Epub 2009 Jan 23.
•   Lidstrom J, Stokland E, Hagberg B
  Scoliosis in Rett syndrome. Clinical and biological aspects. Spine (Phila Pa 1976). 1994 Jul 15;19(14):1632-5. doi: 10.1097/00007632-199407001-00013.
•   Logan SW, Huang HH, Stahlin K, Galloway JC
  Modified ride-on car for mobility and socialization: single-case study of an infant with Down syndrome. Pediatr Phys Ther. 2014 Winter;26(4):418-26. doi: 10.1097/PEP.0000000000000070.
•   Lotan M, Downs J, Elefant C
  A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown. Dev Neurorehabil. 2021 Aug;24(6):429-434. doi: 10.1080/17518423.2021.1914762. Epub 2021 Apr 15.
•   Lotan M, Ippolito E, Favetta M, Romano A
  Skype Supervised, Individualized, Home-Based Rehabilitation Programs for Individuals With Rett Syndrome and Their Families - Parental Satisfaction and Point of View. Front Psychol. 2021 Sep 16;12:720927. doi: 10.3389/fpsyg.2021.720927. eCollection 2021.
•   Lotan M, Merrick J, Carmeli E
  Managing scoliosis in a young child with Rett syndrome: a case study. ScientificWorldJournal. 2005 Mar 29;5:264-73. doi: 10.1100/tsw.2005.33.
•   Mehta J, Gibson M
  The treatment of neuromuscular scoliosis. Current Orthopaedics. 2003; 17(4): 313-21. doi:10.1016/S0268-0890(03)00002-1.
•   Mount RH, Charman T, Hastings RP, Reilly S, Cass H
  The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry. 2002 Nov;43(8):1099-110. doi: 10.1111/1469-7610.00236.
•   Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG
  Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 Apr 15;70(16):1313-21. doi: 10.1212/01.wnl.0000291011.54508.aa. Epub 2008 Mar 12.
•   Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium
  Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.
•   Olafsson Y, Saraste H, Al-Dabbagh Z
  Brace treatment in neuromuscular spine deformity. J Pediatr Orthop. 1999 May-Jun;19(3):376-9.
•   Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG
  Profiling scoliosis in Rett syndrome. Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f.
•   Pini G, Milan M, Zappella M
  Rett syndrome in northern Tuscany (Italy): family tree studies. Clin Genet. 1996 Dec;50(6):486-90. doi: 10.1111/j.1399-0004.1996.tb02718.x.
•   Riise R, Brox JI, Sorensen R, Skjeldal OH
  Spinal deformity and disability in patients with Rett syndrome. Dev Med Child Neurol. 2011 Jul;53(7):653-7. doi: 10.1111/j.1469-8749.2011.03935.x. Epub 2011 Apr 18.
•   Roberts SB, Tsirikos AI
  Factors influencing the evaluation and management of neuromuscular scoliosis: A review of the literature. J Back Musculoskelet Rehabil. 2016 Nov 21;29(4):613-623. doi: 10.3233/BMR-160675.
•   Rocos B, Zeller R
  Correcting Scoliosis in Rett Syndrome. Cureus. 2021 Jun 3;13(6):e15411. doi: 10.7759/cureus.15411. eCollection 2021 Jun.
•   Rodocanachi Roidi ML, Isaias IU, Cozzi F, Grange F, Scotti FM, Gestra VF, Gandini A, Ripamonti E
  A New Scale to Evaluate Motor Function in Rett Syndrome: Validation and Psychometric Properties. Pediatr Neurol. 2019 Nov;100:80-86. doi: 10.1016/j.pediatrneurol.2019.03.005. Epub 2019 Mar 16.
•   Rodocanachi Roidi ML, Isaias IU, Cozzi F, Grange F, Scotti FM, Gestra VF, Gandini A, Ripamonti E
  Motor function in Rett syndrome: comparing clinical and parental assessments. Dev Med Child Neurol. 2019 Aug;61(8):957-963. doi: 10.1111/dmcn.14109. Epub 2018 Nov 26.
•   Romano A, Capri T, Semino M, Bizzego I, Di Rosa G, Fabio RA
  Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review. Dev Neurorehabil. 2020 Nov;23(8):485-501. doi: 10.1080/17518423.2019.1680761. Epub 2019 Oct 31.
•   Romano A, Di Rosa G, Tisano A, Fabio RA, Lotan M
  Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home. Disabil Rehabil. 2022 Oct;44(20):5898-5908. doi: 10.1080/09638288.2021.1949398. Epub 2021 Jul 20.
•   Romano A, Ippolito E, Risoli C, Malerba E, Favetta M, Sancesario A, Lotan M, Moran DS
  Intensive Postural and Motor Activity Program Reduces Scoliosis Progression in People with Rett Syndrome. J Clin Med. 2022 Jan 22;11(3):559. doi: 10.3390/jcm11030559.
•   Skjeldal OH, von Tetzchner S, Aspelund F, Herder GA, Lofterld B
  Rett syndrome: geographic variation in prevalence in Norway. Brain Dev. 1997 Jun;19(4):258-61. doi: 10.1016/s0387-7604(97)00572-x.
•   SOSORT guideline committee; Weiss HR, Negrini S, Rigo M, Kotwicki T, Hawes MC, Grivas TB, Maruyama T, Landauer F
  Indications for conservative management of scoliosis (guidelines). Scoliosis. 2006 May 8;1:5. doi: 10.1186/1748-7161-1-5.
•   Westerlund LE, Gill SS, Jarosz TS, Abel MF, Blanco JS
  Posterior-only unit rod instrumentation and fusion for neuromuscular scoliosis. Spine (Phila Pa 1976). 2001 Sep 15;26(18):1984-9. doi: 10.1097/00007632-200109150-00008.

An Intensive Anti-Scoliosis Postural Intervention Supported by an Application for Individuals With Rett Syndrome

Details for clinical trial NCT05488938