Building the repertoire of measures of walking in Rett syndrome

References

• Fehr S, Bebbington A, Nassar N, et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res. 2011;70:313–319.
   PubMed Web of Science ®Google Scholar
• Ellaway C, Christodoulou J. Rett syndrome: clinical characteristics and recent genetic advances. Disabil Rehabil. 2001;23:98–106.
   PubMed Web of Science ®Google Scholar
• Hagberg B, Aicardi J, Dias K, et al. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol. 1983;14:471–479.
   PubMed Web of Science ®Google Scholar
• Bisgaard AM, Schonewolf-Greulich B, Ravn K, et al. Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012. Eur J Paediatr Neurol. 2015;19:679–687.
   PubMed Web of Science ®Google Scholar
• Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944–950.
   PubMed Web of Science ®Google Scholar
• Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–188.
   PubMed Web of Science ®Google Scholar
• Cuddapah VA, Pillai RB, Shekar KV, et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014;51:152–158.
   PubMed Web of Science ®Google Scholar
• Anderson A, Wong K, Jacoby P, et al. 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.
   PubMed Web of Science ®Google Scholar
• Tarquinio DC, Hou W, Neul JL, et al. The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatr Neurol. 2015;53:402–411.
   PubMed Web of Science ®Google Scholar
• Cass H, Reilly S, Owen L, et al. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol. 2003;45:325–337.
   PubMed Web of Science ®Google Scholar
• Downs JA, Bebbington A, Jacoby P, et al. Gross motor profile in Rett syndrome as determined by video analysis. Neuropediatrics. 2008;39:205–210.
   PubMed Web of Science ®Google Scholar
• Draheim CC, Williams DP, McCubbin JA. Prevalence of physical inactivity and recommended physical activity in community-based adults with mental retardation. Ment Retard. 2002;40:436–444.
   PubMedGoogle Scholar
• King G, Law M, King S, et al. A conceptual model of the factors affecting the recreation and leisure participation of children with disabilities. Phys Occup Ther Pediatr. 2003;23:63–90.
   PubMedGoogle Scholar
• Epstein A, Leonard H, Davis E, et al. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. Am J Med Genet A. 2016;170:645–653.
   PubMed Web of Science ®Google Scholar
• Downs J, Leonard H, Jacoby P, et al. Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders. Disabil Rehabil. 2015;37:1992–1996.
   PubMed Web of Science ®Google Scholar
• Downs J, Stahlhut M, Wong K, et al. Validating the Rett syndrome gross motor scale. PLoS One. 2016;11:e0147555. doi: 10.1371/journal.pone.0147555.
   PubMed Web of Science ®Google Scholar
• Lor L, Hill K, Jacoby P, et al. A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome. Dev Med Child Neurol. 2015;57:1137–1142.
   PubMed Web of Science ®Google Scholar
• Nasuti G, Stuart-Hill L, Temple VA. The six-minute walk test for adults with intellectual disability: a study of validity and reliability. J Intellect Dev Disabil. 2013;38:31–38.
   PubMed Web of Science ®Google Scholar
• Thompson P, Beath T, Bell J, et al. 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;50:370–376.
   PubMed Web of Science ®Google Scholar
• Maher CA, Williams MT, Olds TS. The six-minute walk test for children with cerebral palsy. Int J Rehabil Res. 2008;31:185–188.
   PubMed Web of Science ®Google Scholar
• Upton CJ, Tyrrell JC, Hiller EJ. Two minute walking distance in cystic fibrosis. Arch Dis Child. 1988;63:1444–1448.
   PubMed Web of Science ®Google Scholar
• Brooks D, Parsons J, Tran D, et al. The two-minute walk test as a measure of functional capacity in cardiac surgery patients. Arch Phys Med Rehabil. 2004;85:1525–1530.
   PubMed Web of Science ®Google Scholar
• Connelly DM, Thomas BK, Cliffe SJ, et al. Clinical utility of the 2-minute walk test for older adults living in long-term care. Physiother Can. 2009;61:78–87.
   PubMed Web of Science ®Google Scholar
• Kosak M, Smith T. Comparison of the 2-, 6-, and 12-minute walk tests in patients with stroke. J Rehabil Res Dev. 2005;42:103–107.
   PubMed Web of Science ®Google Scholar
• Bohannon RW, Bubela D, Magasi S, et al. Comparison of walking performance over the first 2 minutes and the full 6 minutes of the six-minute walk test. BMC Res Notes. 2014;7:269. doi: 10.1186/1756-0500-7-269.
   PubMedGoogle Scholar
• Graham HK, Harvey A, Rodda J, et al. The functional mobility scale (FMS). J Pediatr Orthop. 2004;24:514–520.
   PubMed Web of Science ®Google Scholar
• Harvey AR, Morris ME, Graham HK, et al. Reliability of the functional mobility scale for children with cerebral palsy. Phys Occup Ther Pediatr. 2010;30:139–149.
   PubMed Web of Science ®Google Scholar
• Rasmussen H, Kliim-Due M, Kircheiner A, et al. Translation and pilot-testing of the functional mobility scale to describe functional mobility in children with cerebral palsy. National Physiotherapy Conference 2012 Mar 22–24; Odense, Denmark [In Danish].
   Google Scholar
• Hoffer MM, Feiwell E, Perry R, et al. Functional ambulation in patients with myelomeningocele. J Bone Joint Surg Am. 1973;55:137–148.
   PubMed Web of Science ®Google Scholar
• Vogel LC, Mendoza MM, Schottler JC, et al. Ambulation in children and youth with spinal cord injuries. J Spinal Cord Med. 2007;30:S158–S164.
   PubMed Web of Science ®Google Scholar
• Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313–1321.
   PubMed Web of Science ®Google Scholar
• Haley SM, Coster WJ, Ludlow LH, et al. Pediatric evaluation of disability inventory (PEDI). Version 1. Development, standardization and administration manual. Boston (MA): New England Center Hospital; 1992.
   Google Scholar
• Stahlhut M, Christensen J, Aadahl M. Applicability and intrarespondent reliability of the pediatric evaluation of disability inventory in a random Danish sample. Pediatr Phys Ther. 2010;22:161–169.
   PubMed Web of Science ®Google Scholar
• Stahlhut M, Gard G, Aadahl M, et al. Discriminative validity of the Danish version of the pediatric evaluation of disability inventory (PEDI). Phys Occup Ther Pediatr. 2011;31:78–89.
   PubMed Web of Science ®Google Scholar
• Weir JP. Quantifying test-retest reliability using the intraclass correlation coefficient and the SEM. J Strength Cond Res. 2005;19:231–240.
   PubMed Web of Science ®Google Scholar
• Lavay B, Reid G, Cressler-Chaviz M. Measuring the cardiovascular endurance of persons with mental retardation: a critical review. Exerc Sport Sci Rev. 1990;18:263–290.
   PubMedGoogle Scholar
• Noonan V, Dean E. Submaximal exercise testing: clinical application and interpretation. Phys Ther. 2000;80:782–807.
   PubMed Web of Science ®Google Scholar
• Sandroff BM, Pilutti LA, Dlugonski D, et al. Comparing two conditions of administering the six-minute walk test in people with multiple sclerosis. Int J MS Care. 2014;16:48–54.
   PubMedGoogle Scholar
• Casey AF, Wang X, Osterling K. Test-retest reliability of the 6-minute walk test in individuals with Down syndrome. Arch Phys Med Rehabil. 2012;93:2068–2074.
   PubMed Web of Science ®Google Scholar
• Marr C, Leonard H, Torode I, et al. Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences. Child Care Health Dev. 2015;41:1000–1009.
   PubMed Web of Science ®Google Scholar
• Bohannon RW, Wang YC, Gershon RC. Two-minute walk test performance by adults 18 to 85 years: normative values, reliability, and responsiveness. Arch Phys Med Rehabil. 2015;96:472–477.
   PubMed Web of Science ®Google Scholar
• de Vet HC, Terwee CB, Ostelo RW, et al. Minimal changes in health status questionnaires: distinction between minimally detectable change and minimally important change. Health Qual Life Outcomes. 2006;4:54. doi: 10.1186/1477-7525-4-54.
   PubMed Web of Science ®Google Scholar