Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment?
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...
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| Published in | Neuromuscular disorders : NMD Vol. 17; no. 6; pp. 451 - 458 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier B.V
01.06.2007
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0960-8966 1873-2364 |
| DOI | 10.1016/j.nmd.2007.02.012 |
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| 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. |
|---|---|
| AbstractList | 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. 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. 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. 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.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. |
| Author | Gargiulo, Marcela Angeard, Nathalie Radvanyi, Hélène Héron, Delphine Eymard, Bruno Jacquette, Aurélia |
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| Keywords | Myotonic dystrophy Childhood-onset form Transmitting parent’s sex (CTG) n Cognitive impairment |
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| Snippet | 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... 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... |
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| SubjectTerms | (CTG) n Adolescent Age of Onset Child Childhood-onset form Cognition Cognition Disorders - genetics Cognitive impairment Female Genes, X-Linked - genetics Genes, Y-Linked - genetics Humans Intelligence - genetics Learning Disorders - genetics Male Myotonic dystrophy Myotonic Dystrophy - genetics Myotonic Dystrophy - physiopathology Myotonin-Protein Kinase Neurology Protein-Serine-Threonine Kinases - genetics Transmitting parent’s sex Trinucleotide Repeat Expansion - genetics Trinucleotide Repeats - genetics |
| Title | Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment? |
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