Clinical manifestations and stages of Rett syndrome - PubMed (original) (raw)

Review

Clinical manifestations and stages of Rett syndrome

Bengt Hagberg. Ment Retard Dev Disabil Res Rev. 2002.

Abstract

The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed.

Copyright 2002 Wiley-Liss, Inc.

PubMed Disclaimer

Similar articles

• Rett females: patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up.
  Hagberg B, Romell M. Hagberg B, et al. Neuropediatrics. 2002 Dec;33(6):324-6. doi: 10.1055/s-2002-37083. Neuropediatrics. 2002. PMID: 12571789
• The Rett condition--broad clinical variability--a case report over three decades.
  Hagberg B. Hagberg B. Neuropediatrics. 1995 Apr;26(2):83-4. doi: 10.1055/s-2007-979730. Neuropediatrics. 1995. PMID: 7566460
• [Clinical and molecular genetic findings in four girls with Rett syndrome].
  Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V. Deutscher K, et al. Klin Padiatr. 2002 Sep-Oct;214(5):291-4. doi: 10.1055/s-2002-34016. Klin Padiatr. 2002. PMID: 12235545 German.
• Rett syndrome: a comprehensive review of the literature.
  Perry A. Perry A. Am J Ment Retard. 1991 Nov;96(3):275-90. Am J Ment Retard. 1991. PMID: 1756032 Review.
• [Rett syndrome as a hodogenesis disorder].
  Narbona J. Narbona J. Rev Neurol. 1999 Jan 1-15;28(1):97-101. Rev Neurol. 1999. PMID: 10101775 Review. Spanish.

Cited by

• A Severity Comparison between Italian and Israeli Rett Syndrome Cohorts.
  Romano A, Lotan M, Fabio RA. Romano A, et al. Diagnostics (Basel). 2023 Nov 6;13(21):3390. doi: 10.3390/diagnostics13213390. Diagnostics (Basel). 2023. PMID: 37958286 Free PMC article.
• Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs.
  Leoncini S, De Felice C, Signorini C, Zollo G, Cortelazzo A, Durand T, Galano JM, Guerranti R, Rossi M, Ciccoli L, Hayek J. Leoncini S, et al. Oxid Med Cell Longev. 2015;2015:421624. doi: 10.1155/2015/421624. Epub 2015 Jul 8. Oxid Med Cell Longev. 2015. PMID: 26236424 Free PMC article.
• The major form of MeCP2 has a novel N-terminus generated by alternative splicing.
  Kriaucionis S, Bird A. Kriaucionis S, et al. Nucleic Acids Res. 2004 Mar 19;32(5):1818-23. doi: 10.1093/nar/gkh349. Print 2004. Nucleic Acids Res. 2004. PMID: 15034150 Free PMC article.
• Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
  Xiol C, Heredia M, Pascual-Alonso A, Oyarzabal A, Armstrong J. Xiol C, et al. Int J Mol Sci. 2021 Sep 26;22(19):10375. doi: 10.3390/ijms221910375. Int J Mol Sci. 2021. PMID: 34638716 Free PMC article. Review.
• Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.
  Marr C, Leonard H, Torode I, Downs J. Marr C, et al. Child Care Health Dev. 2015 Nov;41(6):1000-9. doi: 10.1111/cch.12243. Epub 2015 Mar 9. Child Care Health Dev. 2015. PMID: 25752500 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Wiley

• Other Literature Sources

  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information