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Gepubliceerd in: Journal of Autism and Developmental Disorders 9/2007

01-10-2007 | Original Paper

Development of a Video-based Evaluation Tool in Rett Syndrome

Auteurs: S. Fyfe, J. Downs, O. McIlroy, B. Burford, J. Lister, S. Reilly, C. L. Laurvick, C. Philippe, M. Msall, W. E. Kaufmann, C. Ellaway, H. Leonard

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 9/2007

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Abstract

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT.
Literatuur
go back to reference Baranek, G. T. (1999). Autism during infancy: A retrospective video analysis of sensory-motor and social behaviors at 9–12 months of age. Journal of Autism and Developmental Disorders, 29(3), 213–224. PubMedCrossRef Baranek, G. T. (1999). Autism during infancy: A retrospective video analysis of sensory-motor and social behaviors at 9–12 months of age. Journal of Autism and Developmental Disorders, 29(3), 213–224. PubMedCrossRef
go back to reference Bumin, G., Uyanik, M., Kayihan, H., Duger, T., & Topcu, M. (2002). The effect of hand splints on stereotypic hand behavior in Rett’s syndrome. Turkish Journal of Pediatrics, 44(1), 25–29. PubMed Bumin, G., Uyanik, M., Kayihan, H., Duger, T., & Topcu, M. (2002). The effect of hand splints on stereotypic hand behavior in Rett’s syndrome. Turkish Journal of Pediatrics, 44(1), 25–29. PubMed
go back to reference Burd, L., Cook, J., & Randall, T. (1990). The hand apraxia scale. Perceptual and Motor Skills, 70, 219–224. PubMedCrossRef Burd, L., Cook, J., & Randall, T. (1990). The hand apraxia scale. Perceptual and Motor Skills, 70, 219–224. PubMedCrossRef
go back to reference Burford, B. (1988). Action cycles: Rhythmic actions for engagement with children and young people with profound mental handicap. European Journal of Special Needs Education, 3(4), 189–206. CrossRef Burford, B. (1988). Action cycles: Rhythmic actions for engagement with children and young people with profound mental handicap. European Journal of Special Needs Education, 3(4), 189–206. CrossRef
go back to reference Burford, B., Kerr, A. M., & Macleod, H. A. (2003). Nurse recognition of early deviation in development in home videos of infants with Rett disorder. Journal of Intellectual Disability Research, 47(Pt 8), 588–596. PubMedCrossRef Burford, B., Kerr, A. M., & Macleod, H. A. (2003). Nurse recognition of early deviation in development in home videos of infants with Rett disorder. Journal of Intellectual Disability Research, 47(Pt 8), 588–596. PubMedCrossRef
go back to reference Burford, B., & Trevarthen, C. (1997). Evoking communication in Rett-syndrome—comparisons with conversations and games in mother–infant interaction. European Child and Adolescent Psychiatry, 6(Suppl. 1), 26–30. PubMed Burford, B., & Trevarthen, C. (1997). Evoking communication in Rett-syndrome—comparisons with conversations and games in mother–infant interaction. European Child and Adolescent Psychiatry, 6(Suppl. 1), 26–30. PubMed
go back to reference Cass, H., Reilly, S., Owen, L., Wisbeach, A., Weekes, L., Slonims, V., et al. (2003). Findings from a multidisciplinary clinical case series of females with Rett syndrome. Developmental Medicine and Child Neurology, 45(5), 325–337. PubMedCrossRef Cass, H., Reilly, S., Owen, L., Wisbeach, A., Weekes, L., Slonims, V., et al. (2003). Findings from a multidisciplinary clinical case series of females with Rett syndrome. Developmental Medicine and Child Neurology, 45(5), 325–337. PubMedCrossRef
go back to reference Charman, T., Neilson, T. C., Mash, V., Archer, H., Gardiner, M. T., Knudsen, G. P., et al. (2005). Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome. European Journal of Human Genetics, 13(10), 1121–1130. PubMedCrossRef Charman, T., Neilson, T. C., Mash, V., Archer, H., Gardiner, M. T., Knudsen, G. P., et al. (2005). Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome. European Journal of Human Genetics, 13(10), 1121–1130. PubMedCrossRef
go back to reference Cohen, J. (1960). A coefficient of agreement for nomina scales. Educational and Psychological Measurement, 20, 37–46. CrossRef Cohen, J. (1960). A coefficient of agreement for nomina scales. Educational and Psychological Measurement, 20, 37–46. CrossRef
go back to reference Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., De Klerk, N., et al. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38–43. PubMedCrossRef Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., De Klerk, N., et al. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38–43. PubMedCrossRef
go back to reference Colvin, L., Leonard, H., de Klerk, N., Davis, M., Weaving, L., Williamson, S., et al. (2004). Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics, 41(1), 25–30. PubMedCrossRef Colvin, L., Leonard, H., de Klerk, N., Davis, M., Weaving, L., Williamson, S., et al. (2004). Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics, 41(1), 25–30. PubMedCrossRef
go back to reference Demeter, K. (2000). Assessing the developmental level in Rett syndrome: An alternative approach? European Child and Adolescent Psychiatry, 9(3), 227–233. PubMedCrossRef Demeter, K. (2000). Assessing the developmental level in Rett syndrome: An alternative approach? European Child and Adolescent Psychiatry, 9(3), 227–233. PubMedCrossRef
go back to reference Einspieler, C., Kerr, A. M., & Prechtl, H. F. (2005a). Abnormal general movements in girls with Rett disorder: The first four months of life. Brain and Development, 27(Suppl. 1), S8–S13. CrossRef Einspieler, C., Kerr, A. M., & Prechtl, H. F. (2005a). Abnormal general movements in girls with Rett disorder: The first four months of life. Brain and Development, 27(Suppl. 1), S8–S13. CrossRef
go back to reference Einspieler, C., Kerr, A. M., & Prechtl, H. F. (2005b). Is the early development of girls with Rett disorder really normal? Pediatric Research, 57(5 Pt 1), 696–700. CrossRef Einspieler, C., Kerr, A. M., & Prechtl, H. F. (2005b). Is the early development of girls with Rett disorder really normal? Pediatric Research, 57(5 Pt 1), 696–700. CrossRef
go back to reference Foster, S. L., & Mash, E. J. (1999). Assessing social validity in clinical treatment research: Issues and procedures. Journal of Consulting Clinical Psychology, 67(3), 308–319. CrossRef Foster, S. L., & Mash, E. J. (1999). Assessing social validity in clinical treatment research: Issues and procedures. Journal of Consulting Clinical Psychology, 67(3), 308–319. CrossRef
go back to reference Glaze, D. G., Schultz, R. J., & Frost, J. D. (1998). Rett-syndrome—characterization of seizures versus non-seizures. Electroencephalography and Clinical Neurophysiology, 106(1), 79–83. PubMedCrossRef Glaze, D. G., Schultz, R. J., & Frost, J. D. (1998). Rett-syndrome—characterization of seizures versus non-seizures. Electroencephalography and Clinical Neurophysiology, 106(1), 79–83. PubMedCrossRef
go back to reference Hagberg, B., Hanefeld, F., Percy, A., & Skjeldal, O. (2002). An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. European Journal of Paediatric Neurology, 6(5), 293–297. PubMedCrossRef Hagberg, B., Hanefeld, F., Percy, A., & Skjeldal, O. (2002). An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. European Journal of Paediatric Neurology, 6(5), 293–297. PubMedCrossRef
go back to reference Hodapp, R. M., Evans, D. W., & Ward, B. A. (1989). Communicative interaction between teachers and children with severe handicaps. Mental Retardation, 27(6), 388–395. PubMed Hodapp, R. M., Evans, D. W., & Ward, B. A. (1989). Communicative interaction between teachers and children with severe handicaps. Mental Retardation, 27(6), 388–395. PubMed
go back to reference Jones, O. H. M. (1977). Mother–child communication with pre-linguistic down’s syndrome and normal infants. London: Academic. Jones, O. H. M. (1977). Mother–child communication with pre-linguistic down’s syndrome and normal infants. London: Academic.
go back to reference Kaplan, E. L., & Meier, P. (1958). Nonparametric estimation from incomplete observations. Journal of the American Statistical Association, 53, 457–481. CrossRef Kaplan, E. L., & Meier, P. (1958). Nonparametric estimation from incomplete observations. Journal of the American Statistical Association, 53, 457–481. CrossRef
go back to reference Koman, L. A., Mooney, J. F., 3rd, Smith, B. P., Goodman, A., & Mulvaney, T. (1994). Management of spasticity in cerebral palsy with botulinum-A toxin: Report of a preliminary, randomized, double-blind trial. Journal of Pediatric Orthopaedics, 14(3), 299–303. Koman, L. A., Mooney, J. F., 3rd, Smith, B. P., Goodman, A., & Mulvaney, T. (1994). Management of spasticity in cerebral palsy with botulinum-A toxin: Report of a preliminary, randomized, double-blind trial. Journal of Pediatric Orthopaedics, 14(3), 299–303.
go back to reference Laurvick, C. L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., et al. (2006). Rett syndrome in Australia: A review of the epidemiology. Journal of Pediatrics, 148(3), 347–352. PubMedCrossRef Laurvick, C. L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., et al. (2006). Rett syndrome in Australia: A review of the epidemiology. Journal of Pediatrics, 148(3), 347–352. PubMedCrossRef
go back to reference Leonard, H., Bower, C., & English, D. (1997). The prevalence and incidence of Rett syndrome in Australia. European Journal of Child and Adolescent Psychiatry, 6(Suppl. 1), 8–10. Leonard, H., Bower, C., & English, D. (1997). The prevalence and incidence of Rett syndrome in Australia. European Journal of Child and Adolescent Psychiatry, 6(Suppl. 1), 8–10.
go back to reference Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Weaving, L., Williamson, S., et al. (2003). Patients with the R133C mutation: Is their phenotype different from Rett syndrome patients with other mutations? Journal of Medical Genetics, 40(5), e52. PubMedCrossRef Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Weaving, L., Williamson, S., et al. (2003). Patients with the R133C mutation: Is their phenotype different from Rett syndrome patients with other mutations? Journal of Medical Genetics, 40(5), e52. PubMedCrossRef
go back to reference Maestro, S., Muratori, F., Barbieri, F., Casella, C., Cattaneo, V., Cavallaro, M. C., et al. (2001). Early behavioral development in autistic children: The first 2 years of life through home movies. Psychopathology, 34(3), 147–152. PubMedCrossRef Maestro, S., Muratori, F., Barbieri, F., Casella, C., Cattaneo, V., Cavallaro, M. C., et al. (2001). Early behavioral development in autistic children: The first 2 years of life through home movies. Psychopathology, 34(3), 147–152. PubMedCrossRef
go back to reference Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2002). The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, 43(8), 1099–1110. PubMedCrossRef Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2002). The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, 43(8), 1099–1110. PubMedCrossRef
go back to reference Mount, R. H., Hastings, R. P., Reilly, S., Cass, H., & Charman, T. (2001). Behavioural and emotional features in Rett syndrome. Disability and Rehabilitation, 23(3–4), 129–138. PubMed Mount, R. H., Hastings, R. P., Reilly, S., Cass, H., & Charman, T. (2001). Behavioural and emotional features in Rett syndrome. Disability and Rehabilitation, 23(3–4), 129–138. PubMed
go back to reference Msall, M. E., DiGaudio, K., Rogers, B. T., LaForest, S., Catanzaro, N. L., Campbell, J., et al. (1994). The functional independence measure for children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities. Clinical Pediatrics (Phila), 33(7), 421–430. CrossRef Msall, M. E., DiGaudio, K., Rogers, B. T., LaForest, S., Catanzaro, N. L., Campbell, J., et al. (1994). The functional independence measure for children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities. Clinical Pediatrics (Phila), 33(7), 421–430. CrossRef
go back to reference Newson, J., & Newson, E. (1975). Intersubjectivity and the transmission of culture. Bulletin of the British Psychological Society, 28, 437–446. Newson, J., & Newson, E. (1975). Intersubjectivity and the transmission of culture. Bulletin of the British Psychological Society, 28, 437–446.
go back to reference Palisano, R., Rosenbaum, P., Walter, S., Russell, D., Wood, E. P., & Galuppi, B. (1997). Development and reliability of a system to classify gross motor function in children with cerebral palsy. Developmental Medicine and Child Neurology, 39, 214–223. PubMedCrossRef Palisano, R., Rosenbaum, P., Walter, S., Russell, D., Wood, E. P., & Galuppi, B. (1997). Development and reliability of a system to classify gross motor function in children with cerebral palsy. Developmental Medicine and Child Neurology, 39, 214–223. PubMedCrossRef
go back to reference Portney, L. G., & Watkins, M. P. (2000). Foundations of clinical research: Applications to practice (2nd ed.). Upper Saddle River: Prentice Hall Health. Portney, L. G., & Watkins, M. P. (2000). Foundations of clinical research: Applications to practice (2nd ed.). Upper Saddle River: Prentice Hall Health.
go back to reference Reilly, S., Skuse, D., & Wolke, D. (2000). Schedule for oral motor assessment. London: Whurr Publishers Ltd. Reilly, S., Skuse, D., & Wolke, D. (2000). Schedule for oral motor assessment. London: Whurr Publishers Ltd.
go back to reference Robertson, L., Hall, S., Jacoby, P., Ellaway, C., De Klerk, N., & Leonard, H. (2006). The association between behaviour and genotype in Rett syndrome using the Australian Rett Syndrome Database. American Journal of Medical Genetics—Part B Neuropsychiatrics, 141(2), 177–183. CrossRef Robertson, L., Hall, S., Jacoby, P., Ellaway, C., De Klerk, N., & Leonard, H. (2006). The association between behaviour and genotype in Rett syndrome using the Australian Rett Syndrome Database. American Journal of Medical Genetics—Part B Neuropsychiatrics, 141(2), 177–183. CrossRef
go back to reference Schaffer, H. R. (1997). Studies in mother–infant interaction. London: Academic. Schaffer, H. R. (1997). Studies in mother–infant interaction. London: Academic.
go back to reference StataCorp (2005). Stata statistical software. College Station: Stata Corporation. StataCorp (2005). Stata statistical software. College Station: Stata Corporation.
go back to reference Stenbom, Y., Tonnby, B., & Hagberg, B. (1998). Lamotrigine in Rett syndrome—treatment experience from a pilot study. European Child and Adolescent Psychiatry, 7(1), 49–52. PubMedCrossRef Stenbom, Y., Tonnby, B., & Hagberg, B. (1998). Lamotrigine in Rett syndrome—treatment experience from a pilot study. European Child and Adolescent Psychiatry, 7(1), 49–52. PubMedCrossRef
go back to reference Trevarthen, C. (1974). The psychobiology of speech development. Language and Brain: Developmental Aspects. Neurosciences Research Program Bulletin, 12, 570–585. Trevarthen, C. (1974). The psychobiology of speech development. Language and Brain: Developmental Aspects. Neurosciences Research Program Bulletin, 12, 570–585.
go back to reference Turnbull, A. P., Friesen, B. J., & Ramirez, C. (1998). Participatory action research as a model for conducting family research. Research and Practice for Persons with Disabilities, 23(3), 178–188. Turnbull, A. P., Friesen, B. J., & Ramirez, C. (1998). Participatory action research as a model for conducting family research. Research and Practice for Persons with Disabilities, 23(3), 178–188.
go back to reference Umansky, R., Watson, J. S., Colvin, L., Fyfe, S., Leonard, S., de Klerk, N., et al. (2003). Hand preference, extent of laterality, and functional hand use in Rett syndrome. Journal of Child Neurology, 18(7), 481–487. PubMedCrossRef Umansky, R., Watson, J. S., Colvin, L., Fyfe, S., Leonard, S., de Klerk, N., et al. (2003). Hand preference, extent of laterality, and functional hand use in Rett syndrome. Journal of Child Neurology, 18(7), 481–487. PubMedCrossRef
go back to reference Umansky, R., Watson, J. S., Hoffbuhr, K., Painter, K. M., Devaney, J., & Hoffman, E. (2001). Social facilitation of object-oriented hand use in a Rett syndrome variant girl: Implications for partial preservation of an hypothesized specialized cerebral network. Journal of Developmental and Behavioral Pediatrics, 22(2), 119–122. PubMed Umansky, R., Watson, J. S., Hoffbuhr, K., Painter, K. M., Devaney, J., & Hoffman, E. (2001). Social facilitation of object-oriented hand use in a Rett syndrome variant girl: Implications for partial preservation of an hypothesized specialized cerebral network. Journal of Developmental and Behavioral Pediatrics, 22(2), 119–122. PubMed
go back to reference Weaving, L. S., Ellaway, C. J., Gecz, J., & Christodoulou, J. (2005). Rett syndrome: Clinical review and genetic update. Journal of Medical Genetics, 42(1), 1–7. PubMedCrossRef Weaving, L. S., Ellaway, C. J., Gecz, J., & Christodoulou, J. (2005). Rett syndrome: Clinical review and genetic update. Journal of Medical Genetics, 42(1), 1–7. PubMedCrossRef
go back to reference Weaving, L. S., Williamson, S. L., Bennetts, B., Davis, M., Ellaway, C. J., Leonard, H., et al. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics, 118A(2), 103–114. CrossRefPubMed Weaving, L. S., Williamson, S. L., Bennetts, B., Davis, M., Ellaway, C. J., Leonard, H., et al. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics, 118A(2), 103–114. CrossRefPubMed
go back to reference Wetherby, A., & Prizant, B. (2002). Communication and symbolic behavior scales developmental profile—research edition. Baltimore: Paul H. Brookes. Wetherby, A., & Prizant, B. (2002). Communication and symbolic behavior scales developmental profile—research edition. Baltimore: Paul H. Brookes.
go back to reference Wright, M., Van Der Linden, M. L., Kerr, A. M., Burford, B., Arrowsmith, G., & Middleton, R. L. (2003). Motion analysis of stereotyped hand movements in Rett syndrome. Journal of Intellectual Disability Research, 47(2), 85–89. PubMedCrossRef Wright, M., Van Der Linden, M. L., Kerr, A. M., Burford, B., Arrowsmith, G., & Middleton, R. L. (2003). Motion analysis of stereotyped hand movements in Rett syndrome. Journal of Intellectual Disability Research, 47(2), 85–89. PubMedCrossRef
go back to reference Yasuhara, A., & Sugiyama, Y. (2001). Music therapy for children with Rett syndrome. Brain and Development, 23(Suppl. 1), S82–S84. PubMedCrossRef Yasuhara, A., & Sugiyama, Y. (2001). Music therapy for children with Rett syndrome. Brain and Development, 23(Suppl. 1), S82–S84. PubMedCrossRef
Metagegevens
Titel
Development of a Video-based Evaluation Tool in Rett Syndrome
Auteurs
S. Fyfe
J. Downs
O. McIlroy
B. Burford
J. Lister
S. Reilly
C. L. Laurvick
C. Philippe
M. Msall
W. E. Kaufmann
C. Ellaway
H. Leonard
Publicatiedatum
01-10-2007
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 9/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0293-9

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