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

Neuromuscul Disord. 2007 Jun;17(6):451-8. doi: 10.1016/j.nmd.2007.02.012. Epub 2007 Apr 12.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Child
  • Cognition
  • Cognition Disorders / genetics*
  • Female
  • Genes, X-Linked / genetics
  • Genes, Y-Linked / genetics
  • Humans
  • Intelligence / genetics
  • Learning Disabilities / genetics
  • Male
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / physiopathology*
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases / genetics
  • Trinucleotide Repeat Expansion / genetics
  • Trinucleotide Repeats / genetics

Substances

  • DMPK protein, human
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases