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 manifesting very soon after birth. Videos of 22 Rett cases were assessed carefully for movements, posture, and behavior during the first 6 mo of life. All signs that deviated from the normal standard were recorded meticulously. Special attention was paid to the face, the hands, and body movements. A detailed analysis clearly demonstrated an abnormal quality of general movements (100%), tongue protrusion (62%), postural stiffness (58%), asymmetric eye opening and closing (56%), abnormal finger movements (52%), hand stereotypies (42%), bursts of abnormal facial expressions (42%), bizarre smile (32%), tremor (28%), and stereotyped body movements (15%). Our study is the first to apply specific standardized measures of early spontaneous movements to Rett infants, proving conclusively that the disorder is manifested within the first months of life. Although not necessarily specific, the signs that we have observed will be of value in alerting clinicians to the possibility of the diagnosis at an early stage, when intervention is likely to be most effective.
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Abbreviations
- MECP2:
-
methyl-CpG-binding protein 2 gene
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Acknowledgements
We are grateful to Diana Eastbourne-Ludlam, vision therapist (Portland, OR, USA) for a second opinion on the asymmetry of eye opening and closing, to Prof. Arend Bos, Neonatologist (University Hospital Groningen, the Netherlands) for providing a third opinion in assessing the quality of fidgety movements in the infant for whom interscorer agreement was lacking, and to Peter B. Marschik, Ph.D. student, for assistance in preparing the manuscript.
We extend our sincere gratitude to the families who provided us with the videotapes that we analyzed for this article. Their good will and cooperation made this work possible.
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This study was supported partly by the General Movement Trust. A.M.K.'s work has been supported by the Scottish, UK, and International Rett Associations.
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Einspieler, C., Kerr, A. & Prechtl, H. Is the Early Development of Girls with Rett Disorder Really Normal?. Pediatr Res 57, 696–700 (2005). https://doi.org/10.1203/01.PDR.0000155945.94249.0A
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DOI: https://doi.org/10.1203/01.PDR.0000155945.94249.0A
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