title: Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.
authors.affiliation: Department of Paediatrics, Northern Alvsborg County Hospital, Trollhättan, Sweden. anne-berit.ekstrom@vgregion.se
authors.forename: Anne-Berit
authors.initials: AB
authors.lastname: Ekström
authors.forename: Louise
authors.initials: L
authors.lastname: Hakenäs-Plate
authors.forename: Már
authors.initials: M
authors.lastname: Tulinius
authors.forename: Elisabet
authors.initials: E
authors.lastname: Wentz
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D016009:Chi-Square Distribution; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000235:genetics / Q000523:psychology; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000150:complications* / Q000235:genetics / Q000523:psychology; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics / Q000523:psychology; D011594:Psychometrics; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014888:Wechsler Scales; D055815:Young Adult