Literature DB >> 14641806

Nurse recognition of early deviation in development in home videos of infants with Rett disorder.

B Burford1, A M Kerr, H A Macleod.   

Abstract

BACKGROUND: In the genetic Rett disorder (RD), infants make some progress then suffer a dramatic developmental regression, usually before 2 years of age. Home videos, taken before the problems are recognized, offer an objective source for detecting early signs.
METHODS: Thirty-six health visitors and midwives were invited to view brief examples from home videos of a cohort of 14 infants with RD and 11 control infants with normal development in the first year of life, and to indicate, by pressing a button, points in the recordings which aroused their suspicion of developmental deviation. They were then invited to comment on their selection. The participants were blind as to whether any individual example showed an infant with normal development or one with some form of developmental disturbance.
RESULTS: From the first month of life and throughout the first year, infants with RD received more button presses than controls (46%, 361 out of 778 viewings) in comparison with the control group (12%, 67 of 558). The consistent nature of the health professionals' comments made possible their categorization under four headings: appearance, posture, movement and contact. In the first month of life, the hand postures of infants with RD received particular comment from midwives (23 out of 37 comments overall on posture).
CONCLUSIONS: The present study strongly suggests the presence of early signs of developmental deviation in infants with RD, although, in most cases, formal developmental screening procedures have failed to detect these before the ages of 12 or 18 months.

Entities:  

Mesh:

Year:  2003        PMID: 14641806     DOI: 10.1046/j.1365-2788.2003.00476.x

Source DB:  PubMed          Journal:  J Intellect Disabil Res        ISSN: 0964-2633


  12 in total

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3.  Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

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Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

4.  Early socio-communicative forms and functions in typical Rett syndrome.

Authors:  Katrin D Bartl-Pokorny; Peter B Marschik; Jeff Sigafoos; Helen Tager-Flusberg; Walter E Kaufmann; Tobias Grossmann; Christa Einspieler
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5.  Clinical presentation of Rett syndrome in relation to quality of life and family functioning.

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6.  Rett syndrome molecular diagnosis and implications in genetic counseling.

Authors:  M Noruzinia; M T Akbari; M Ghofrani; H Sheikhha
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7.  Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

Authors:  Peter B Marschik; Christa Einspieler; Jeff Sigafoos
Journal:  Res Dev Disabil       Date:  2011-11-24

8.  Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome.

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Journal:  Neurobiol Dis       Date:  2014-04-24       Impact factor: 5.996

9.  Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome.

Authors:  Florian B Pokorny; Katrin D Bartl-Pokorny; Christa Einspieler; Dajie Zhang; Ralf Vollmann; Sven Bölte; Markus Gugatschka; Björn W Schuller; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2018-03-15

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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