کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081030 1189364 2007 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment?
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment?
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 17, Issue 6, June 2007, Pages 451-458
نویسندگان
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