Literature DB >> 3434724

The hands, and the mind, pre- and post-regression, in Rett syndrome.

A M Kerr1, J Montague, J B Stephenson.   

Abstract

Forty girls with Rett syndrome were included in a study of behaviour, with particular regard to the hands, before, during and after regression. Data was taken from examination of each girl, and in some cases from detailed developmental histories given by parents, and films taken before, during and after regression. The important findings are shown in two tables and described. Pre-regression abnormalities included hypotonia, jerky incoordination, an excess of patting or waving activity and involuntary movements which included alternate opening and closing of the fingers and twisting of wrists or arms. Hand use did not progress beyond the ten- to twelve-month stage. Language did not develop beyond the stage of one word utterances. When well-developed, the stereotyped hand movements were simple and clumsy, consisting of tapping, rubbing and clasping, with the hand moved as a unit. Before regression hands were usually separate, during regression usually together and thereafter with increasing age inclined to separate again. Voluntary hand use was observed when girls were relaxed and strongly motivated, particularly during musical interactions. The characteristic abnormalities of behaviour in pre-regression Rett syndrome, and hand behaviour in later childhood should allow earlier and more accurate diagnosis.

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Year:  1987        PMID: 3434724     DOI: 10.1016/s0387-7604(87)80070-0

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  11 in total

1.  Describing the phenotype in Rett syndrome using a population database.

Authors:  L Colvin; S Fyfe; S Leonard; T Schiavello; C Ellaway; N De Klerk; J Christodoulou; M Msall; H Leonard
Journal:  Arch Dis Child       Date:  2003-01       Impact factor: 3.791

2.  Neurophysiological observations on corticospinal projections to the upper limb in subjects with Rett syndrome.

Authors:  J A Eyre; A M Kerr; S Miller; M C O'Sullivan; V Ramesh
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-10       Impact factor: 10.154

3.  A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.

Authors:  Maria C N Marchetto; Cassiano Carromeu; Allan Acab; Diana Yu; Gene W Yeo; Yangling Mu; Gong Chen; Fred H Gage; Alysson R Muotri
Journal:  Cell       Date:  2010-11-12       Impact factor: 41.582

4.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Authors:  Laila Robertson; Sonĵa E Hall; Peter Jacoby; Carolyn Ellaway; Nick de Klerk; Helen Leonard
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-03-05       Impact factor: 3.568

Review 5.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

6.  Brief report: cognitive and adaptive functioning in 28 girls with Rett syndrome.

Authors:  A Perry; N Sarlo-McGarvey; C Haddad
Journal:  J Autism Dev Disord       Date:  1991-12

7.  Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Authors:  Marisela E Dy; Jeff L Waugh; Nutan Sharma; Heather O'Leary; Kush Kapur; Alissa M D'Gama; Mustafa Sahin; David K Urion; Walter E Kaufmann
Journal:  Pediatr Neurol       Date:  2017-06-02       Impact factor: 3.372

8.  Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: a potential therapy for Rett syndrome.

Authors:  Chia-Ho Pan; Shihjen Tsai
Journal:  Med Sci Monit       Date:  2012-01

9.  Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Authors:  Jennifer L Stallworth; Marisela E Dy; Caroline B Buchanan; Chin-Fu Chen; Alexandra E Scott; Daniel G Glaze; Jane B Lane; David N Lieberman; Lindsay M Oberman; Steven A Skinner; Aubin E Tierney; Gary R Cutter; Alan K Percy; Jeffrey L Neul; Walter E Kaufmann
Journal:  Neurology       Date:  2019-05-03       Impact factor: 9.910

10.  Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.

Authors:  Christa Einspieler; Peter B Marschik; Wanderley Domingues; Victor B Talisa; Katrin D Bartl-Pokorny; Thomas Wolin; Jeff Sigafoos
Journal:  J Dev Phys Disabil       Date:  2014-04
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