Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study.

Abstract:

AIM:To conduct a longitudinal follow-up of the development of global cognitive abilities and adaptive skills in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1). METHOD:Fifty-one participants (29 males, 22 females, mean age 19y 5mo, SD 4y 11mo, range 10y 10mo-28y 11mo) were divided into severe congenital (n=16), mild congenital (n=17), and childhood DM1 (n=18) subgroups. The average time between the first and second assessments was 7 years 8 months. Adaptive skills were evaluated using the Vineland Adaptive Behavior Scales and global cognitive functioning using Wechsler scales. RESULTS:There was no statistically significant decline in cognitive abilities and adaptive behaviour. A tendency of decline regarding the level of intellectual disability was found in the congenital DM1 groups but not in the childhood group. In the congenital DM1 groups, the gap in relation to typically developing peers in cognitive and adaptive functioning increased. Predictors of change over time in adaptive skills were age and current level of intellectual disability: individuals with severe intellectual disability and younger individuals deteriorated the most. However, when raw scores were compared, no actual regression in adaptive functioning was found. INTERPRETATION:The participants had not lost any important adaptive skills. Greater cognitive and adaptive development was found in the childhood group than in the congenital groups. WHAT THIS PAPER ADDS:There is no absolute decline in cognitive and adaptive abilities in individuals with congenital and childhood myotonic dystrophy type 1. Pace of development is slow in comparison with normative data. The childhood group tended to show greater cognitive and adaptive development than the congenital groups. :FUNCIONAMIENTO COGNITIVO Y ADAPTATIVO EN LA INFANCIA Y FORMAS CONGÉNITAS DE DISTROFIA MIOTÓNICA TIPO 1: UN ESTUDIO LONGITUDINAL: OBJETIVO: Realizar un seguimiento longitudinal del desarrollo de las capacidades cognitivas globales y las habilidades de adaptación en individuos con formas congénitas e infantiles de distrofia miotónica tipo 1 (DM1). MÉTODO: Cincuenta y un participantes (29 varones, 22 mujeres, edad media 19 y 5 meses, SD 4 años y 11 meses, rango 10 años y 10 meses y 28 años y 11 meses) se dividieron en congénitos graves (n = 16), congénitos leves (n = 17) y DM infantil 1 (n = 18). El tiempo promedio entre la primera y la segunda evaluación fue de 7 años y 8 meses. Las habilidades adaptativas se evaluaron utilizando las escalas de comportamiento adaptativo de Vineland y el funcionamiento cognitivo global utilizando escalas de Wechsler. RESULTADOS: No hubo una disminución estadísticamente significativa en las capacidades cognitivas y el comportamiento adaptativo. Se encontró una tendencia de disminución con respecto al nivel de discapacidad intelectual en los grupos de DM1 congénitos, pero no en el grupo de la infancia. En los grupos de DM1 congénitos, la brecha en relación con los compañeros de desarrollo típico en el funcionamiento cognitivo y adaptativo aumentó. Los factores predictivos del cambio a lo largo del tiempo en las habilidades de adaptación fueron la edad y el nivel actual de discapacidad intelectual: las personas con discapacidad intelectual grave y las personas más jóvenes se deterioraron más. Sin embargo, cuando se compararon las puntuaciones brutas, no se encontró una regresión real en el funcionamiento adaptativo. INTERPRETACIÓN: Los participantes no habían perdido ninguna habilidad adaptativa importante. Se encontró mayor desarrollo cognitivo y adaptativo en el grupo infantil que en los grupos congénitos. :FUNCIONAMENTO COGNITIVO E ADAPTATIVO EM FORMAS CONGÊNITAS INFANTIS DA DISTROFIA MIOTÔNICA TIPO 1: UM ESTUDO LONGITUDINAL: OBJETIVO: Conduzimos um acompanhamento longitudinal do desenvolviemtno de capacidades cognitivas globais e capacidades adaptativas em indivíduos com formas congênitas e da infantis da distrofia miotônica tipo 1 (DM1). MÉTODO: Cinquenta e um participantes (29 do sexo masculino, 22 do sexo feminino, média de idade 19a 5m, DP 4a 11m, variação 10a 10m-28a 11m) foram divididos em DM1 congênita severa (n=16), congênita leve (n=17), e da infância (n=18). O tempo médio entre a primeira e a segunda avaliação foi 7 anos e 8 meses. Capacidades adaptativas foram avaliadas usando as Escalas Vineland de Comportamento Adaptativo, e as escalas Wechsler de funcionamento cognitivo global. RESULTADOS: Não houve declínio estatisticamente significativo nas capacidades cognitivas e comportamento adaptativo. Uma tendência de declínio no nível de incapacidade intelectual foi encontrado nos grupos de DM1congênita, mas não no grupo da infância. Nos grupos com DM1 congênita, a distância em relação aos pares com desenvolvimento típico no funcionamento cognitivo e adaptativo aumentou. Preditores de mudança com o passar do tempo nas habilidades adaptativas foram a idade e o nível atual de incapacidade intelectual: indivíduos com incapacidade intelectual severa e indivíduos mais jovens deterioraram mais. No entanto, quando as pontuações brutas foram comparadas, nenhuma regressão real no funcionamento adaptativo foi encontrada. INTERPRETAÇÃO: Os participantes não perderam nenhuma habilidade adaptativa importante. Maior desenvolvimento cognitivo e adaptativo foi encontrado no grupo da infância comparado aos grupos congênitos.

journal_name

Dev Med Child Neurol

authors

Lindeblad G,Kroksmark AK,Ekström AB

doi

10.1111/dmcn.14161

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

1214-1220

issue

10

eissn

0012-1622

issn

1469-8749

journal_volume

61

pub_type

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