Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

References

• 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. Nature Genet 1999;23:185–8
   PubMed Web of Science ®Google Scholar
• Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010;68:944–50
   PubMed Web of Science ®Google Scholar
• Leonard H, Fyfe S, Leonard S, Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. Disabil Rehabil 2001;23:107–17
   PubMed Web of Science ®Google Scholar
• Bao XH, Downs J, Wong K, et al. Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol 2013;55:553–8
   PubMed Web of Science ®Google Scholar
• Leonard H, Ravikumara M, Baikie G, et al. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr 2013;57:451–60
   PubMed Web of Science ®Google Scholar
• Ager S, Fyfe S, Christodoulou J, et al. Predictors of scoliosis in Rett syndrome. J Child Neurol 2006;21:809–13
   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;39:205–10
   PubMed Web of Science ®Google Scholar
• Bebbington A, Anderson A, Ravine D, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008;70:868–75
   PubMed Web of Science ®Google Scholar
• Foley KR, Downs J, Bebbington A, et al. 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
   PubMed Web of Science ®Google Scholar
• Samaco RC, Neul JL. Complexities of Rett syndrome and MeCP2. J Neurosci 2011;31:7951–9
   PubMed Web of Science ®Google Scholar
• Chapleau CA, Lane J, Pozzo-Miller L, Percy AK. Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives. Curr Clin Pharmacol 2013;8:358–69
   PubMedGoogle Scholar
• Van Remoortel H, Giavedoni S, Raste Y, et al. Validity of activity monitors in health and chronic disease: a systematic review. Int J Behav Nutr Phys Act 2012;9:84
   PubMed Web of Science ®Google Scholar
• Capio CM, Sit CH, Abernethy B. Physical activity measurement using MTI (actigraph) among children with cerebral palsy. Arch Phys Med Rehabil 2010;91:1283–90
   PubMed Web of Science ®Google Scholar
• Tweedy SM, Trost SG. Validity of accelerometry for measurement of activity in people with brain injury. Med Sci Sports Exerc 2005;37:1474–80
   PubMed Web of Science ®Google Scholar
• Chastin SF, Baker K, Jones D, et al. The pattern of habitual sedentary behavior is different in advanced Parkinson's disease. Mov Disord 2010;25:2114–20
   PubMed Web of Science ®Google Scholar
• Bergman RJ, Bassett DR Jr, Muthukrishnan S, Klein DA. Validity of 2 devices for measuring steps taken by older adults in assisted-living facilities. J Phys Act Health 2008;5:S166–75
   PubMed Web of Science ®Google Scholar
• Ng LWC, Jenkins S, Hill K. Accuracy and responsiveness of the stepwatch activity monitor and ActivPAL in patients with COPD when walking with and without a rollator. Disabil Rehabil 2012;34:1317–22
   PubMed Web of Science ®Google Scholar
• Algase DL, Beattie ER, Leitsch SA, Beel-Bates CA. Biomechanical activity devices to index wandering behavior in dementia. Am J Alzheimers Dis Other Demen 2003;18:85–92
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Downs J, Bebbington A, Woodhead H, et al. Early determinants of fractures in Rett syndrome. Pediatrics 2008;121:540–6
   PubMed Web of Science ®Google Scholar
• Bland JM, Altman DG. Applying the right statistics: analyses of measurement studies. Ultrasound Obstet Gynecol 2003;22:85–93
   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;19:231–40
   PubMed Web of Science ®Google Scholar
• Weikert M, Motl RW, Suh Y, et al. Accelerometry in persons with multiple sclerosis: measurement of physical activity or walking mobility? J Neurol Sci 2010;290:6–11
   PubMed Web of Science ®Google Scholar
• Feito Y, Bassett DR, Thompson DL. Evaluation of activity monitors in controlled and free-living environments. Med Sci Sports Exerc 2012;44:733–41
   PubMed Web of Science ®Google Scholar
• Simoneau GG. Kinesiology of walking. St Louis: Mosby; 2002
   Google Scholar
• De Vries SI, Van Hirtum HW, Bakker I, et al. Validity and reproducibility of motion sensors in youth: a systematic update. Med Sci Sports Exerc 2009;41:818–27
   PubMed Web of Science ®Google Scholar
• Busse ME, van Deursen RW, Wiles CM. Real-life step and activity measurement: reliability and validity. J Med Eng Technol 2009;33:33–41
   PubMedGoogle Scholar
• Dahlgren G, Carlsson D, Moorhead A, et al. Test-retest reliability of step counts with the ActivPAL device in common daily activities. Gait Posture 2010;32:386–90
   PubMed Web of Science ®Google Scholar
• Bowden MG, Behrman AL. Step Activity Monitor: accuracy and test-retest reliability in persons with incomplete spinal cord injury. J Rehabil Res Dev 2007;44:355–62
   PubMed Web of Science ®Google Scholar
• McDonald CM, Widman LM, Walsh DD, et al. Use of step activity monitoring for continuous physical activity assessment in boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil 2005;86:802–8
   PubMed Web of Science ®Google Scholar
• Haeuber E, Shaughnessy M, Forrester LW, et al. Accelerometer monitoring of home- and community-based ambulatory activity after stroke. Arch Phys Med Rehabil 2004;85:1997–2001
   PubMed Web of Science ®Google Scholar
• Fehr S, Bebbington A, Nassar N, et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 2011;70:313–19
   PubMed Web of Science ®Google Scholar
• Freilinger M, Bebbington A, Lanator I, et al. Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Dev Med Child Neurol 2010;52:962–5
   PubMed Web of Science ®Google Scholar
• Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002;8:61–5
   PubMedGoogle Scholar
• World Health Organization. International classification of functioning, disability and health: ICF. Geneva: World Health Organization; 2001
   Google 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