Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1520782
- author
- Ekstrom, Anne-Berit ; Hakenas-Plate, Louise ; Tulinius, Mar and Wentz, Elisabet LU
- organization
- publishing date
- 2009
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Developmental Medicine & Child Neurology
- volume
- 51
- issue
- 12
- pages
- 982 - 990
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- wos:000271465700012
- scopus:73349092445
- ISSN
- 0012-1622
- DOI
- 10.1111/j.1469-8749.2009.03300.x
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: The VĂ¥rdal Institute (016540000)
- id
- be00a88e-601c-4bac-94a0-65eb8a396105 (old id 1520782)
- date added to LUP
- 2016-04-01 11:55:33
- date last changed
- 2022-04-20 23:52:42
@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 < 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.}}, 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 Inc.}}, 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}}, doi = {{10.1111/j.1469-8749.2009.03300.x}}, volume = {{51}}, year = {{2009}}, }