548
Views
15
CrossRef citations to date
0
Altmetric
Research Article

Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review

, , , , &
Pages 485-501 | Received 23 Jul 2019, Accepted 11 Oct 2019, Published online: 31 Oct 2019

References

  • Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee H-S, Lane JB, Barrish JO, Annese F, et al. Rett syndrome diagnostic criteria: lessons from the natural history study. Ann Neurol. 2010;68:951–55. doi:10.1002/ana.22154.
  • 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;23:185–88. doi:10.1038/13810.
  • Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8:61–65. doi:10.1002/mrdd.10020.
  • Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, Tarquinio DC. Rett syndrome: crossing the threshold to clinical translation. Trends Neurosci. 2016;39:100–13. doi:10.1016/j.tins.2015.12.008.
  • Hagberg B, Witt-Engerström I, Opitz JM, Reynolds JF. Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet. 1986;25:47–59. doi:10.1002/ajmg.1320250506.
  • Kerr AM, Stephenson JBP, Opitz JM, Reynolds JF. A study of the natural history of rett syndrome in 23 girls. Am J Med Genet. 1986;25:77–83. doi:10.1002/ajmg.1320250509.
  • Naidu S, Murphy M, Moser HW, Rett A, Opitz JM, Reynolds JF. Rett syndrome - natural history in 70 cases. Am J Med Genet. 1986;25:61–72. doi:10.1002/ajmg.1320250507.
  • Monteiro CB, Savelsbergh GJ, Smorenburg AR, Graciani Z, Torriani-Pasin C, de Abreu LC, Valenti VE, Kok F. Quantification of functional abilities in rett syndrome: a comparison between stages III and IV. Neuropsychiatr Dis Treat. 2014;10:1213–22. doi:10.2147/NDT.S57333.
  • Downs J, Stahlhut M, Wong K, Syhler B, Bisgaard A-M-M, Jacoby P, Leonard H. Validating the rett syndrome gross motor scale. PLoS One. 2016;11:0147–555. doi:10.1371/journal.pone.0147555.
  • Lotan M, Merrick J, Kandel I, Morad M. Aging in persons with rett syndrome: an updated review. Sci World J. 2010;10:778–87. doi:10.1100/tsw.2010.79.
  • Percy A. Rett syndrome: coming to terms with treatment. Adv Neurosci. 2014;2014:1–20. doi:10.1155/2014/345270.
  • Stahlhut M, Downs J, Leonard H, Bisgaard A-M-M, Nordmark E. Building the repertoire of measures of walking in rett syndrome. Disabil Rehabil. 2017;39:1926–31. doi:10.1080/09638288.2016.1212280.
  • Lee JYL, Leonard H, Piek JP, Downs J. Early development and regression in rett syndrome. Clin Genet. 2013;84:572–76. doi:10.1111/cge.12110.
  • 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;68:944–50. doi:10.1002/ana.22124.
  • Lane JB, Lee SH, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, et al. Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurol. 2011;77:1812–18. doi:10.1212/WNL.0b013e3182377dd2.
  • Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017;13:37–51. doi:10.1038/nrneurol.2016.186.
  • Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Gross motor profile in rett syndrome as determined by video analysis. Neuropediat. 2008;39:205–10. doi:10.1055/s-0028-1104575.
  • Lotan M, Rett Syndrome B-ZB. A review with emphasis on clinical characteristics and intervention. Sci World J. 2006;6:1517–41. doi:10.1100/tsw.2006.249.
  • Humphreys P, Barrowman N. the incidence and evolution of parkinsonian rigidity in Rett syndrome: a pilot study. Can J Neurol Sci. 2016;43:567–73. doi:10.1017/cjn.2016.8.
  • Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 2008;84:971–76. doi:10.1111/j.1651-2227.1995.tb13809.x.
  • Smeets EEJ, Pelc K, Dan B. Rett syndrome. Mol Syndr. 2011;2:113–27. doi:10.1159/000337637.
  • 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;70:20–25. doi:10.1016/j.pediatrneurol.2017.01.032.
  • 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:13–18. doi:10.1002/ajmg.a.34367.
  • Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson, A., Pineda, M., Zeev, B.B., Bahi-Buisson, N, et al. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet. 2010;47:242–48. doi:10.1136/jmg.2009.072553.
  • Colvin L, Leonard H, De Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. J Med Genet. 2004;41:25–30.
  • 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. Neurol. 2008;70:1313–21.
  • Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, De Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE. et al. Investigating genotype–phenotype relationships in Rett syndrome using an international data set. Neurol. 2008;70:868–75.
  • Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J. et al. Genotype and early development in Rett syndrome: the value of international data. Brain Dev. 2005;27:S59–68.
  • Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. Altered attainment of developmental milestones influences the age of diagnosis of Rett syndrome. J Child Neurol. 2011;26:980–87. doi:10.1177/0883073811401396.
  • Lotan M, Hanks S. Physical therapy intervention for individuals with Rett syndrome. Scie W J. 2006;6:1314–38. doi:10.1100/tsw.2006.187.
  • Hutton B, Salanti G, Caldwell DM, Chaimani A, Schmid CH, Cameron C, Ioannidis JP, Straus S, Thorlund K, Jansen JP. et al. The PRISMA extension statement for reporting of systematic reviews incorporating network meta-analyses of health care interventions: checklist and explanations. Ann Intern Med. 2015;162:777–84. doi:10.7326/M14-2385.
  • Moher D, Liberati A, Tetzlaff J, Altman DG, Group TP. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 2009:6. doi:10.1371/journal.pmed.1000097.
  • Barnes KV, Coughlin FR, O’Leary HM, Bruck N, Bazin GA, Beinecke EB, Walco AC, Cantwell NG, Kaufmann WE. Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales. J Neurodev Disord. 2015;7:30. doi:10.1186/s11689-015-9127-4.
  • Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H. The phenotype associated with a large deletion on MECP2. Eur J Hum Genet. 2012;20:921–27. doi:10.1038/ejhg.2012.34.
  • Borst HE, Townend GS, van Eck M, Smeets E, van Den Berg MMM, Laan A, Curfs, L.M. Abnormal foot position and standing and walking ability in Rett syndrome: an exploratory study. J Dev Phys Disabil. 2018;30:281–95. doi:10.1007/s10882-017-9585-6.
  • Cianfaglione R, Clarke A, Kerr M, Hastings RPP, Oliver C, Felce D. Ageing in Rett syndrome. J Intellect Disabil Res. 2016;60:182–90. doi:10.1111/jir.12228.
  • Cianfaglione R, Clarke A, Kerr M, Hastings RP, Oliver C, Felce D. A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health. Am J Med Genet A. 2015;167:1493–500. doi:10.1002/ajmg.a.37027.
  • Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev Med Child Neurol. 2010;52:817–23. doi:10.1111/j.1469-8749.2010.03636.x.
  • Downs J, Leonard H, Hill K. Initial assessment of the stepwatch activity monitor to measure walking activity in Rett syndrome. Disabil Rehabil. 2012;34:1010–15. doi:10.3109/09638288.2011.630773.
  • Downs J, Leonard H, Jacoby P, Brisco L, Baikie G, Hill K. Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders. Disabil Rehabil. 2015;37:1992–96. doi:10.3109/09638288.2014.993436.
  • Downs J, Leonard H, Wong K, Newton N, Hill K. Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome. Dev Med Child Neurol. 2017;59:605–11. doi:10.1111/dmcn.13398.
  • Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, De Klerk N, Leonard H. Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. Orphanet J Rare Dis. 2018;13:3. doi:10.1186/s13023-017-0752-8.
  • 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;29:369–74. doi:10.1097/BPO.0b013e3181a53b41.
  • Fabio RA, Colombo B, Russo S, Cogliati F, Masciadri M, Foglia S, Antonietti A, Tavian D. Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale. Res Dev Disabil. 2014;35:2976–86. doi:10.1016/j.ridd.2014.07.031.
  • Foley K-R-R, 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;26:1237–45. 2012;158 A:340–50. doi:10.1002/ajmg.a.34418. doi:10.1177/0883073811402688.
  • Halbach NS, Smeets EE, van Den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet Part A. 2012;158(2):340–50.
  • Iias IU, Dipaola M, Michi M, Marzegan A, Volkmann J, Rodocanachi Roidi ML, Frigo CA, Cavallari P. Gait initiation in children with Rett syndrome. PLoS One. 2014;9:92736. doi:10.1371/journal.pone.0092736.
  • Krebs HI, Peltz AR, Berkowe J, Angacian G, Cortes M, Edwards D. Robotic biomarkers in RETT Syndrome: evaluating stiffness. Proc IEEE RAS EMBS Int Conf Biomed Robot Biomechatr. 2016:680–84. doi:10.1109/BIOROB.2016.7523704.
  • Lor L, Hill K, Jacoby P, Leonard H, Downs J. A validation study of a modified Bouchard activity record that extends the concept of “uptime” to Rett syndrome. Dev Med Child Neurol. 2015;57:1137–42. doi:10.1111/dmcn.12838.
  • Lotan M, Schenker R, Wine J, Downs J. The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study. Dev Neurorehabil. 2012;15:19–25. doi:10.3109/17518423.2011.629374.
  • Mansour L, El Sobky E, Mohamed SM, Marzouk H, Tarek LA. Genotype-phenotype relationship among Egyptian children with Rett syndrome. J Egypt Public Health Assoc. 2015;90:133–37. doi:10.1097/01.EPX.0000469901.73624.7a.
  • Pidcock FS, Salorio C, Bibat G, Swain J, Scheller J, Shore W, Naidu S. Functional outcomes in Rett syndrome. Brain Dev. 2016;38:76–81. doi:10.1016/j.braindev.2015.06.005.
  • Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F. Rett syndrome: a wide clinical and autonomic picture. Orphanet J Rare Dis. 2016;11:132. doi:10.1186/s13023-016-0499-7.
  • Riise R, Brox JI, Sorensen R, Skjeldal OH. Spinal deformity and disability in patients with Rett syndrome. Dev Med Child Neurol. 2011;53:653–57. doi:10.1111/j.1469-8749.2011.03935.x.
  • 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. 2018. doi:10.1111/dmcn.14109.
  • Schönewolf-Greulich B, Stahlhut M, Larsen JL, Syhler B, Bisgaard A-M. Functional abilities in aging women with Rett syndrome - the Danish cohort. Disabil Rehabil. 2017;39:911–18. doi:10.3109/09638288.2016.1170896.
  • Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Rett syndrome and long-term disorder profile. Am J Med Genet Part A. 2009;149:199–205. doi:10.1002/ajmg.a.32491.
  • Stahlhut M, Downs J, Aadahl M, Leonard H, Bisgaard A-MA-M, Nordmark E. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome. Disabil Rehabil. 2017;41:1–9. doi:10.1080/09638288.2017.1381181.
  • Stahlhut M, Hill K, Bisgaard A-M-M, Jensen AK, Andersen M, Leonard H, Downs J. Measurement of sedentary behaviors or “Downtime” in Rett syndrome. J Child Neurol. 2017;32:1009–13. doi:10.1177/0883073817728861.
  • Tay G, Graham HK, Leonard H, Reddihough D, Baikie G. Hip displacement and scoliosis in Rett syndrome - screening is required. Dev Med Child Neurol. 2010;52:93–98. doi:10.1111/j.1469-8749.2009.03359.x.
  • Urbanowicz A, Downs J, Bebbington A, Jacoby P, Girdler S, Leonard H. Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Res Autism Spectr Disord. 2011;5:722–32. doi:10.1016/j.rasd.2010.08.006.
  • Vignoli A, Fabio RA, La Briola F, Giannatiempo S, Antonietti A, Maggiolini S, Canevini MP. Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome. Epilepsy Behav. 2010;17:489–96. doi:10.1016/j.yebeh.2010.01.024.
  • Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C. et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev. 2001;23:208–11. doi:10.1016/s0387-7604(01)00193-0.
  • 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;88:38–43. doi:10.1136/adc.88.1.38.
  • Sparrow SS, Balla DA, Cicchetti DV. The vineland adaptive behavior scales. Circle Pines, (MN): American Guidance Service. 1984.
  • Uniform Data System for Medical Rehabilitation. The WeeFIM II ® Clinical guide version 6.4. Buffalo (NY); 2016.
  • Fabio RA, Martinazzoli C, Antonietti A. Costruzione e standardizzazione dello strumento “RARS”(Rett assessment rating scale). Ciclo Evol Disabil. 2005;8:257–81.
  • Bohannon RW, Smith MB. Interrater reliability of a modified ashworth scale of muscle spasticity. Phys Ther. 1987;67:206–07. doi:10.1093/ptj/67.2.206.
  • Lotan M, Isakov E, Merrick J. Improving functional skills and physical fitness in children with Rett syndrome. J Intellect Disabil Res. 2004;48:730–35. doi:10.1111/j.1365-2788.2003.00589.x.
  • Haley SM. Paediatric evaluation of disability inventory (PEDI): development, standardization and administration manual. Boston (MA): PEDI Research Group; 1992.
  • Trovato MK, Bradley E, Slomine BS, Salorio CF, Christensen JR, Suskauer SJ. The physical abilities and mobility scale (PAMS): reliability and validity in children receiving inpatient brain injury rehabilitation. Arch Phys Med Rehabil. 2013;94:1335–41. doi:10.1016/j.apmr.2012.12.004.
  • Pini G, Congiu L, Zappella M, Bonuccelli U, Romanelli AM. PBZ (Pini, Bonuccelli, Zappella): scala italiana per la valutazione clinica nella sindrome di Rett. Aut Dist Svil. 2016;14.
  • Mahoney FI, Barthel DW. Functional evaluation: the Barthel index: a simple index of independence useful in scoring improvement in the rehabilitation of the chronically ill. Md State Med J. 1965;14.
  • Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The functional mobility scale (FMS). J Pediatr Orthop. 2004;24:514–20.
  • Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE. et al. Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord. 2007;37:1636–46. doi:10.1007/s10803-006-0293-9.
  • Russell DJ, Rosenbaum PL, Cadman DT, Gowland C, Hardy S, Jarvis S. The gross motor function measure: a means to evaluate the effects of physical therapy. Dev Med Child Neurol. 2008;31:341–52. doi:10.1111/j.1469-8749.1989.tb04003.x.
  • Avery LM, Russell DJ, Raina PS, Walter SD, Rosenbaum PL. Rasch analysis of the gross motor function measure: validating the assumptions of the rasch model to create an interval-level Measure. Arch Phys Med Rehabil. 2003;84:697–705. doi:10.1016/S0003-9993(02)04896-7.
  • Schönewolf-Greulich B, Stahlhut M, Larsen JL, Syhler B, Bisgaard AM. Functional abilities in aging women with Rett syndrome–the Danish cohort. Disabil Rehabil. 2017;39:911–18. doi:10.3109/09638288.2016.1170896.
  • World Health Organization. International classification of functioning, disability and health: ICF. World Health Organization; 2001.
  • 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. doi:10.1016/j.pediatrneurol.2019.03.005.
  • Bouchard C, Tremblay A, Leblanc C, Lortie G, Savard R, Thériault G. A method to assess energy expenditure in children and adults. Am J Clin Nutr. 1983;37:461–67. doi:10.1093/ajcn/37.3.461.
  • Leung W, Siebert EA, Yun J. Measuring physical activity with accelerometers for individuals with intellectual disability: A systematic review. Res Dev Disabil. 2017;67:60–70. doi:10.1016/J.RIDD.2017.06.001.
  • Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, et al. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet. 2003;40:52. doi:10.1136/jmg.40.5.e52.
  • De Felice C, Ciccoli L, Leoncini S, Signorini C, Rossi M, Vannuccini L, Guazzi G, Latini G, Comporti M, Valacchi G, et al. Systemic oxidative stress in classic Rett syndrome. Free Radic Biol Med. 2009;47(4):440–48. doi:10.1016/j.freeradbiomed.2009.05.016.
  • Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J. Genotype and early development in Rett syndrome: the value of international data. Brain Dev. 2005;27:S59–S68.
  • Biering-Sørensen F, Nielsen JB, Klinge K. Spasticity-assessment: a review. Spinal Cord. 2006;44:708–22. doi:10.1038/sj.sc.3101928.
  • Clopton N, Dutton J, Featherston T, Grigsby A, Mobley J, Melvin J. Interrater and intrarater reliability of the modified ashworth scale in children with hypertonia. Pediatr Phys Ther. 2005;17:268–74. doi:10.1097/01.pep.0000186509.41238.1a.
  • Meseguer-Henarejos A-B, Sánchez-Meca J, López-Pina J-A, Carles-Hernández R. Inter- and intra-rater reliability of the Modified Ashworth Scale: a systematic review and meta-analysis. Eur J Phys Rehabil Med. 2018;54:576–90. doi:10.23736/S1973-9087.17.04796-7.
  • Pandyan AD, Johnson GR, Price CIM, Curless RH, Barnes MP, Rodgers H. A review of the properties and limitations of the Ashworth and modified Ashworth Scales as measures of spasticity. Clin Rehabil. 1999;13:373–83. doi:10.1191/026921599677595404.
  • Ammann‐Reiffer C, Bastiaenen CHG, Van Hedel HJA. Measuring change in gait performance of children with motor disorders: assessing the functional mobility scale and the gillette functional assessment questionnaire walking scale. Dev Med Child Neurol. 2019;61:717–24. doi:10.1111/dmcn.14071.
  • Rossier P, Wade DT. Validity and reliability comparison of 4 mobility measures in patients presenting with neurologic impairment. Arch Phys Med Rehabil. 2001;82:9–13. doi:10.1053/APMR.2001.9396.
  • Bohannon RW, Wang Y-C, Gershon RC. Two-Minute Walk Test Performance by Adults 18 to 85 Years: normative Values, Reliability, and Responsiveness. Arch Phys Med Rehabil. 2015;96:472–77. doi:10.1016/J.APMR.2014.10.006.
  • Connelly DM, Thomas BK, Cliffe SJ, Perry WM, Smith RE. Clinical utility of the 2-minute walk test for older adults living in long-term care. Physiother Can. 2009;61:78–87. doi:10.3138/physio.61.2.78.
  • Sparrow SS. Vineland adaptive behavior scales. Encycl Clin Neuropsychol. 2011;1:2618–21.
  • 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;56:233–47. doi:10.1111/j.1365-2788.2011.01404.x.
  • Fabio RA, Caprì T, Lotan M, Towey GE, Martino G. Motor abilities are related to the specific genotype in Rett syndrome. In Urbano KV, editor. Advances in genetics research. Vol. 18. New York:Nova Science Publisher; 2018;18.
  • Govender P, Joubert RWE. Evidence-based clinical algorithm for hypotonia assessment: to pardon the errs. Occup Ther Int. 2018;2018:1–7. doi:10.1155/2018/8967572.
  • Morley D, Selai C, Thompson A. The self-report Barthel Index: preliminary validation in people with Parkinson’s disease. Eur J Neurol. 2012;19:927–29. doi:10.1111/j.1468-1331.2011.03592.x.
  • Dalla Pietra, Savio K, Reggiani M, Monaco F, Leone MA. Validity and reliability of the Barthel index administered by telephone. Stroke. 2011;42(7):2077–79. doi:10.1161/STROKEAHA.111.613521.
  • Quinn TJ, Langhorne P, Stott DJ. Barthel index for stroke trials. Stroke. 2011;42:1146–51. doi:10.1161/STROKEAHA.110.598540.
  • Duffy L, Gajree S, Langhorne P, Stott DJ, Quinn TJ. Reliability (inter-rater agreement) of the Barthel index for assessment of stroke survivors: systematic review and meta-analysis. Stroke. 2013;44:462–68.
  • Hartigan I, O’Mahony D. The Barthel index: comparing inter-rater reliability between nurses and doctors in an older adult rehabilitation unit. Appl Nurs Res. 2011;24:e1–7.
  • Carroll DD, Courtney-Long EA, Stevens AC, Sloan ML, Lullo C, Visser SN, Fox MH, Armour BS, Campbell VA, Brown DR, et al. Vital signs: disability and physical activity–United States, 2009–2012. MMWR Morb Mortal Wkly Rep. 2014;63:407–13.
  • Haley SM, Fragala-Pinkham MA. Interpreting change scores of tests and measures used in physical therapy. Phys Ther. 2006;86:735–43. doi:10.1093/ptj/86.5.735.
  • Gioia GA, Isquith PK, Guy SC, Kenworthy L. Test review behavior rating inventory of executive function. Child Neuropsychology. 2000;6(3):235–38. doi:10.1076/chin.6.3.235.3152.
  • Thompson P, Beath T, Bell J, Jacobson G, Phair T, Salbach NM, Wright FV. Test-retest reliability of the 10-metre fast walk test and 6-minute walk test in ambulatory school-aged children with cerebral palsy. Dev Med Child Neurol. 2008;50:370–76. doi:10.1111/j.1469-8749.2008.02048.x.
  • Podsiadlo D, Richardson S. The Timed“Up & Go”: a test of basic functional mobility for Frail Elderly persons. J Am Geriatr Soc. 1991;39:142–48. doi:10.1111/j.1532-5415.1991.tb01616.x.
  • Fabio RA, Giannatiempo S, Caprì T. Attention and identification of the same and the similar visual stimuli in Rett syndrome. Life Span Disabil. 2019;22:113–27.
  • Fabio RA, Caprì T, Nucita A, Iannizzotto G, Mohammadhasani N. Eye gaze digital games to improve motivational and attentional ability in Rett syndrome. J Spec Educ Reh. 2018;19(3–4):105–26. doi:10.19057/jser.2019.43
  • Fabio RA, Gangemi A, Caprì T, Budden S, Falzone A. Neurophysiological and cognitive effects of transcranial direct current stimulation in three girls with Rett syndrome with chronic language impairments. Res Dev Disabil. 2018;76:76–87. doi:10.1016/j.ridd.2018.03.008.
  • Fabio RA, Magaudda C, Caprì T, Towey G, Martino G. Choice behavior in Rett syndrome, the consistency parameter. Life Span Disab. 2018;21:47–62.
  • Badley EM, Rasooly I, Webster GK. Relative importance of musculoskeletal disorders as a cause of chronic health problems, disability, and health care utilization: findings from the 1990 Ontario health survey. J Rheumatol. 1994;21:505–14.
  • Lee P, Helewa A, Smythe HA, Bombardier C, Goldsmith CH. Epidemiology of musculoskeletal disorders (complaints) and related disability in Canada. J Rheumatol. 1985;12:1169–73.
  • March L, Smith EUR, Hoy DG, Cross MJ, Sanchez-Riera L, Blyth F, Buchbinder R, Vos T, Woolf AD. Burden of disability due to musculoskeletal (MSK) disorders. Best Pract Res Clin Rheumatol. 2014;28:353–66. doi:10.1016/j.berh.2014.08.002.
  • Hoy DG, Smith E, Cross M, Sanchez-Riera L, Blyth FM, Buchbinder R, Woolf AD, Driscoll T, Brooks P, March LM. Reflecting on the global burden of musculoskeletal conditions: lessons learnt from the global burden of disease 2010 study and the next steps forward. Ann Rheum Dis. 2015;74:4–7. doi:10.1136/annrheumdis-2014-205393.
  • Marasini D, Quatto P, Ripamonti E. Assessing the inter-rater agreement through weighted indexes. Stat Met Med Res. 2016;25:2611–33.
  • Marasini D, Quatto P, Ripamonti E. The ordinal inter-rater agreement for the evaluation of university courses. Stat Applic. 2014;12:5–16.
  • Zapf A, Castell S, Morawietz L, Karch A. Measuring inter-rater reliability for nominal data which coefficients and confidence intervals are appropriate? BMC Med Res Methodol. 2016;16:93–104.
  • Fabio RA, Martino G, Caprì T, Giacchero R, Giannatiempo S, La Briola F, Banderali G, Canevini MP, Vignoli A. Long chain poly-unsaturated fatty acid supplementation in Rett syndrome: a randomized placebo-controlled trial. Asi J Clin Nutrit. 2018;10:37–46. doi:10.3923/ajcn.2018.37.46.
  • Lotan M, Barmatz C. Hydrotherapy for a young child with Rett syndrome. Review of the literature and a case study. Int J Disabil Hum Dev. 2009;8:349–58. doi:10.1515/IJDHD.2009.8.4.349.
  • Elefant C, Lotan M. Organizing the sensory system of individuals with Rett syndrome through music. F N R E J. 2011;1:561–70.
  • Hanks SB. Motor disabilities in the rett syndrome and physical therapy strategies. Brain Dev. 1990;12:157–61. doi:10.1016/S0387-7604(12)80201-4.
  • Fabio RA, Caprì T, Buzzai C, Pittalà V, Gangemi A. Auditory and visual oddball paradigm evaluated through P300 in five girls with Rett syndrome. Neuroquantology. 2019;17:40–49. doi:10.14704/nq.2019.17.07.2591.
  • Gangemi A, Caprì T, Fabio RA, Puggioni P, Falzone AM, Martino G. Transcranial direct current stimulation (tDCS) and cognitive empowerment for the functional recovery of diseases with chronic impairment and genetic etiopathogenesis. In: Urbano KV, editor. Advances in genetics research. Vol. 18. New York:Nova Science Publisher; 2018;18.
  • Slomine B. Functional independence measure for children. Encycl Clin Neuropsychol. 2011:1113–15. doi:10.1007/978-0-387-79948-3_1607.
  • Msall ME, DiGaudio K, Rogers BT, LaForest S, Catanzaro NL, Campbell J, Wilczenski F, Duffy LC. The functional independence measure for children (WeeFIM). Clin Pediatr. 1994;33:421–30. doi:10.1177/000992289403300708.
  • Castelli I, Antonietti A, Fabio RA, Lucchini B, Marchetti A. Do rett syndrome persons possess theory of mind? Some evidence from not-treated girls. Life Span Disab. 2013;16(2):157–168.
  • Fabio RA, Giannatiempo S, Oliva P, Murdaca AM. The Increase of Attention in Rett Syndrome: A Pre–Test/Post-Test Research Design. J Dev Phys Disabil. 2011;23(2):99–111.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.