Early development and regression in Rett syndrome

Authors

  • JYL Lee,

    1. School of Psychology and Speech Pathology and Curtin Health Innovation Research Institute, Curtin University, Perth, Australia
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  • H Leonard,

    Corresponding author
    1. Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia
    • Corresponding author: Dr Helen Leonard, Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia 6872, Australia.

      Tel.: +61 08 9489 7790;

      fax: +61 08 9489 7700;

      e-mail: hleonard@ichr.uwa.edu.au

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  • JP Piek,

    1. School of Psychology and Speech Pathology and Curtin Health Innovation Research Institute, Curtin University, Perth, Australia
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  • J Downs

    1. Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia
    2. School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University, Perth, Australia
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  • Each of the authors has no conflict of interest to report.

Abstract

This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.

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