Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

Abstract

The goal of the current investigation was to examine adaptive behavior and cognitive skills in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscular weakness and concomitant cognitive deficits. Previous studies have documented specific language deficits in older children with DMD, but there are limited data on younger children. Twenty children with DMD who were between 3 and 6 years old and 20 unaffected family control children were recruited. Parents completed questionnaires relating to development and adaptive functioning, while children completed neuropsychological testing. Results of paired t tests indicate that children with DMD are rated as delayed relative to familial controls on measures of adaptive functioning, as assessed by the Vineland Adaptive Behavior Scales. Furthermore, children with DMD exhibit impairments on multiple measures of cognition, including measures of receptive language, expressive language, visuo-spatial skills, fine-motor skills, attention, and memory skills. Across all domains examined, the young children with DMD performed more poorly than their familial controls. These deficits appear to be more generalized than those reported in older children with this disorder. Dystrophin, a missing protein product, is hypothesized to be responsible for these cognitive and behavioral impairments. (JINS, 2008, 14, 853-861.)

The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: Application in Brazilian research with control children and adults with neurological disorders.

“…Duchenne muscular dystrophy is an X-linked form of muscular dystrophy characterized by progressive skeletal muscle weakness and irreversible degeneration (Cyrulnik et al, 2008). It is caused by mutations in the dystrophin gene.…”

Motor Learning In Duchenne Muscular Dystrophy - A Literature Review

“…Cyrulnik, S. E. et al (2008) [30] aimed to investigate the adaptive behavior and cognitive skills in children with DMD. Previous studies have documented specific language deficits in older children with DMD, but there are few data on younger children.…”

Tempo de movimento em função do nível de dificuldade na Distrofia Muscular de Duchenne

“…Ao refletir sobre os tipos de ações do dia a dia, percebe-se que é importante ter a capacidade de realizar tarefas dentro de um limite de tempo determinado e com algum nível de acurácia, como pegar um objeto ou mesmo teclar um texto no computador e para isso o indivíduo deve recrutar com sucesso os recursos de controle sensório-motor para conseguir um movimento com acurácia confiável e eficiência energética. Entretanto, quando um feedback apropriado é fornecido, as pessoas ainda podem fazer enormes melhorias no desempenho, ou seja, podem tornar-se mais rápidas, mais precisas, ou ambos (Elliott et al, 2010;Ashworth-Beaumont e Nowicky, 2013 As alterações musculares e deficiências em áreas centrais responsáveis pelo controle do movimento na DMD (Mehler, 2000;Anderson et al, 2002;Uchikawa et al, 2004;Cyrulnik et al, 2008) Os ítens relacionados com a função distal fornecem informações úteis sobre habilidades, que refletem a função necessária para usar um 'joystick' da cadeira de rodas, um computador com mouse ou tela sensível ao toque (Mazzone et al, 2012).…”

“…Além disso, a distrofina está presente em muitas regiões do cérebro, incluindo o córtex cerebral, hipocampo e cerebelo e há evidências de que a ausência da distrofina no SNC produz alterações significativas na função neural (Lidov et al, 1990;Mehler, 2000;Anderson et al, 2002;Cyrulnik et al, 2008).…”