Linked Life Data

17433680

Source:http://linkedlifedata.com/resource/pubmed/id/17433680

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2007-5-28
pubmed:abstractText
The objective of this study was to assess the cognitive profile in the childhood-onset form of myotonic dystrophy (DM1). We carried out a general cognitive abilities study on 36 patients (6-18 years). Results of Full Scale IQ , VIQ (Verbal IQ) and PIQ (Performance IQ) measures are discussed in terms of global cognitive impairment depending on the (CTG)n repeat size and the transmitting parent's sex. The results highlighted a negative correlation between the CTG repeat size and cognitive function: (1) 55% of the subjects (20/34) presented large CTG expansion (mean=761) correlated with significant extensive cognitive deficits (mean Full Scale IQ=56) in both intelligence scales (verbal and non-verbal); most of them exhibited DM1 maternal transmission. (2) In the case of smaller expansion (mean=527), 38% of the subjects exhibited a subnormal intelligence (mean Full Scale IQ=86) but performed poorly on subtests evaluating attention/memory function and presented a severe deficit in visuospatial and/or visuo-constructive skills. Most of these children had paternal transmission but a few had an affected mother.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
451-8
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?
pubmed:affiliation
Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Pitié-Salpêtriére, 47-83, Boulevard de l'Hôpital, 75651, Paris Cedex 13, France. nathalie.angeard@paris5.sorbonne.fr
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't