Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2007 Jun;17(6):451-8. Epub 2007 Apr 12.

Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?

Author information

1
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

Abstract

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.

PMID:
17433680
DOI:
10.1016/j.nmd.2007.02.012
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center