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Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Ekstrom, Anne-Berit; Hakenas-Plate, Louise; Tulinius, Mar and Wentz, Elisabet LU (2009) In Developmental Medicine & Child Neurology 51(12). p.982-990
Abstract
Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo-21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital... (More)
Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo-21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full-scale IQ (FSIQ; r(s)=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (r(s)=-0.63, p < 0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (r(s)=0.95, p < 0.01) and childhood DM1 groups (r(s)=0.92, p < 0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Developmental Medicine & Child Neurology
volume
51
issue
12
pages
982 - 990
publisher
John Wiley & Sons
external identifiers
  • wos:000271465700012
  • scopus:73349092445
ISSN
0012-1622
DOI
10.1111/j.1469-8749.2009.03300.x
language
English
LU publication?
yes
id
be00a88e-601c-4bac-94a0-65eb8a396105 (old id 1520782)
date added to LUP
2009-12-28 09:07:03
date last changed
2017-12-17 03:23:39
@article{be00a88e-601c-4bac-94a0-65eb8a396105,
  abstract     = {Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo-21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full-scale IQ (FSIQ; r(s)=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (r(s)=-0.63, p &lt; 0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (r(s)=0.95, p &lt; 0.01) and childhood DM1 groups (r(s)=0.92, p &lt; 0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.},
  author       = {Ekstrom, Anne-Berit and Hakenas-Plate, Louise and Tulinius, Mar and Wentz, Elisabet},
  issn         = {0012-1622},
  language     = {eng},
  number       = {12},
  pages        = {982--990},
  publisher    = {John Wiley & Sons},
  series       = {Developmental Medicine & Child Neurology},
  title        = {Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms},
  url          = {http://dx.doi.org/10.1111/j.1469-8749.2009.03300.x},
  volume       = {51},
  year         = {2009},
}