Literature DB >> 2653342

Rett syndrome: clinical peculiarities, diagnostic approach, and possible cause.

B A Hagberg1.   

Abstract

The presentation and diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the "classic" form of this disorder, variability of phenotype exemplified by atypical patients is also examined. Characteristic peculiar manifestations of the condition are compiled from the author's personal experiences over a 28 year period. Speculations and ideas are presented on possible alternative causative mechanisms in an attempt to explain the origin of this disorder.

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Year:  1989        PMID: 2653342     DOI: 10.1016/0887-8994(89)90031-3

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  11 in total

Review 1.  Rett syndrome and the MECP2 gene.

Authors:  T Webb; F Latif
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

2.  Clinical profile of five patients with Rett syndrome and literature review.

Authors:  Riaz Ahmed
Journal:  Oman Med J       Date:  2007-10

3.  CSF beta-endorphin levels in patients with infantile autism.

Authors:  S Nagamitsu; T Matsuishi; T Kisa; H Komori; M Miyazaki; T Hashimoto; Y Yamashita; E Ohtaki; H Kato
Journal:  J Autism Dev Disord       Date:  1997-04

4.  Survey of adolescents with severe intellectual handicap.

Authors:  J C Asthana; S Sinha; J S Haslam; H M Kingston
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

5.  Rett syndrome-like hand-washing, developmental arrest and autistic symptoms in two Italian girls.

Authors:  Michele Zappella
Journal:  Eur Child Adolesc Psychiatry       Date:  1994-01       Impact factor: 4.785

Review 6.  Polyneuropathies in paediatrics.

Authors:  B Hagberg
Journal:  Eur J Pediatr       Date:  1990-02       Impact factor: 3.183

7.  Speech and motor disturbances in Rett syndrome.

Authors:  V M Bashina; N V Simashkova; V V Grachev; N L Gorbachevskaya
Journal:  Neurosci Behav Physiol       Date:  2002 Jul-Aug

Review 8.  Is Rett syndrome a subtype of pervasive developmental disorders?

Authors:  L Y Tsai
Journal:  J Autism Dev Disord       Date:  1992-12

9.  Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2.

Authors:  Tugba G Kucukkal; Emil Alexov
Journal:  Comput Math Methods Med       Date:  2015-04-05       Impact factor: 2.238

10.  Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV.

Authors:  Carlos Bm Monteiro; Geert Jp Savelsbergh; Ana Rp Smorenburg; Zodja Graciani; Camila Torriani-Pasin; Luiz Carlos de Abreu; Vitor E Valenti; Fernando Kok
Journal:  Neuropsychiatr Dis Treat       Date:  2014-07-03       Impact factor: 2.570

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