Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.
Dev Med Child Neurol
; 51(12): 982-90, 2009 Dec.
Article
em En
| MEDLINE
| ID: mdl-19459914
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adaptação Psicológica
/
Transtornos Globais do Desenvolvimento Infantil
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Cognição
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Expansão das Repetições de Trinucleotídeos
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Deficiências da Aprendizagem
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Distrofia Miotônica
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Dev Med Child Neurol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Suécia