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IFC (Editorial Board)
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CO2
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Preface
The following papers were invited during a three-day workshop at the Swedish Rett center in June 2003. This beautiful situation among the lakes and mountains of northern Sweden provided an ideal envir...
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Yoshiko Nomura,
Alison Kerr,
Ingegerd Witt Engerström
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S1
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Perturbations in the development of infants with Rett disorder and the implications for early diagnosis
Abstract: The gene discovery in Rett disorder has opened the way for the development of clinical intervention. Initial recognition of affected infants will depend on observation by clinicians and the ...
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Bronwen Burford
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S3-S7
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Abnormal general movements in girls with Rett disorder: The first four months of life
Abstract: An apparently normal early development was one of the initial criteria for classical Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder man...
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Christa Einspieler,
Alison M. Kerr,
Heinz F.R. Prechtl
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S8-S13
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Rett syndrome from a family perspective: The Swedish Rett Center survey
Abstract: The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Re...
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Gunilla Larsson,
Britta Lindström,
Ingegerd Witt Engerström
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S14-S19
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Predictive value of the early clinical signs in Rett disorder
Abstract: The British Isles Survey for Rett has registered 1159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examination...
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Alison M. Kerr,
Robin J. Prescott
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S20-S24
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Disorganized rhythm and synchrony: Early signs of autism and Rett syndrome
Abstract: We interpret early age-related developments in intentions and socially responsive behaviour with data from home videos of infants who later develop autism or Rett syndrome. Detailed evidence...
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Colwyn Trevarthen,
Stuart Daniel
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S25-S34
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| Review article |
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Early behavior characteristics and sleep disturbance in Rett syndrome
Abstract: This paper reviews the early features of Rett syndrome (RTT). The behavioral characteristics of RTT were analyzed retrospectively by taking history and asking about early infancy behaviors. ...
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Yoshiko Nomura
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S35-S42
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Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
Abstract: We have investigated whether brainstem assessment using the NeuroScope could be used for objective and quantitative monitoring of early development and later progress in Rett syndrome. Brain...
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Peter O.O. Julu,
Ingegerd Witt Engerström
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S43-S53
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| Review article |
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Early motor disturbances in Rett syndrome and its pathophysiological importance
Abstract: Assessment of the development of motor function of Rett syndrome (RTT) revealed hypotonia with failure of crawling and disturbance in skillful hand manipulation are shown as early motor sign...
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Masaya Segawa
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S54-S58
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Genotype and early development in Rett syndrome: The value of international data
Abstract: Background: Rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mutations in the MECP2 gene. Originally the syndrome was characterised as having a normal pr...
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Helen Leonard,
Hannah Moore,
Mary Carey,
Susan Fyfe,
Sonj Hall,
Laila Robertson,
Xi Ru Wu,
Xinhua Bao,
Hong Pan,
John Christodoulou,
Sarah Williamson,
Nick de Klerk
et al.
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S59-S68
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| Case report |
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Clinical profile of a male with Rett syndrome
Abstract: We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-a...
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Sarojini S. Budden,
Heather C. Dorsey,
Robert D. Steiner
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S69-S71
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| Review article |
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Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain?
Abstract: The mutated gene for Rett syndrome, MECP2, has now been identified in ninety percent of cases. Molecular biologists are immersed in the study of this gene's biology determining how its mutat...
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Dawna Duncan Armstrong
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S72-S76
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MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution
Abstract: Most cases of Rett syndrome (RTT) are associated with mutations of the transcriptional regulator MeCP2. On the basis of molecular structure, ontogeny, and subcellular and regional distributi...
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Walter E. Kaufmann,
Michael V. Johnston,
Mary E. Blue
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S77-S87
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| Review article |
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Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment
Abstract: Rett syndrome is a neurological disorder resulting from an X-linked dominant mutation. It is characterized by a variety of physical and perceptual disabilities, resulting in a need for const...
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Meir Lotan,
Michele Shapiro
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S88-S94
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Music therapy as a tool for assessing hand use and communicativeness in children with Rett Syndrome
Abstract: A six-year-old girl with Rett syndrome was assessed in a multi-disciplinary specialist therapy clinic and aspects of her responsiveness and developmental potential were found in the music th...
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Tony Wigram,
Margaret Lawrence
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S95-S96
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Learning ability in children with Rett syndrome
Abstract: The purpose of this article is to present results of a research study examining learning ability in individuals with Rett syndrome. The material for this article was drawn from a more extens...
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Cochavit Elefant,
Tony Wigram
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S97-S101
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