title: Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?
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.
authors: 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
authors: Nathalie
authors: N
authors: Angeard
authors: Marcela
authors: M
authors: Gargiulo
authors: Aurélia
authors: A
authors: Jacquette
authors: Hélène
authors: H
authors: Radvanyi
authors: Bruno
authors: B
authors: Eymard
authors: Delphine
authors: D
authors: Héron
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D003071:Cognition; D003072:Cognition Disorders / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics; D050173:Genes, Y-Linked / Q000235:genetics; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000503:physiopathology*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases