Duchenne muscular dystrophy (DMD) is associated with lack of dystrophin, a structural component of the muscular cell membrane. Dystrophin appears to have also a role as signaling molecule and a brain localization. Cognitive and learning deficits are seen in approximately 30–50% of DMD, with a major impairment in verbal domains still largely uncharacterized. We compared neuropsychological and literacy performances in six ambulatory, school-aged DMD patients with 12 age- and sex-matched children with developmental dyslexia (DD). Among others, the neuropsychological protocol included WISC-III, reading, writing, and comprehension tests, rapid automatic naming (RAN), working memory, and verbal and semantic fluency tests. Only six of 12 children with DD had a history of language delay (LDD). DMD patients and DD controls presented normal IQ values. All DMD were more impaired than controls with no LDD on most verbal measures including phonological working memory. DMD also shared with the selected DD population a low speed in RAN tests and impaired performances on working-memory tests. Preliminary observations confirm that DMD patients are at risk for learning problems with a specific deficit in the speed of lexical access. Difficulties in written language could also stem from a sub-optimal functioning of phonological working-memory. It is helpful to identify such profile in order to offer more appropriate educational measures warranting better performances at school.
Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population
CIONI, GIOVANNI;Battini R.
2011-01-01
Abstract
Duchenne muscular dystrophy (DMD) is associated with lack of dystrophin, a structural component of the muscular cell membrane. Dystrophin appears to have also a role as signaling molecule and a brain localization. Cognitive and learning deficits are seen in approximately 30–50% of DMD, with a major impairment in verbal domains still largely uncharacterized. We compared neuropsychological and literacy performances in six ambulatory, school-aged DMD patients with 12 age- and sex-matched children with developmental dyslexia (DD). Among others, the neuropsychological protocol included WISC-III, reading, writing, and comprehension tests, rapid automatic naming (RAN), working memory, and verbal and semantic fluency tests. Only six of 12 children with DD had a history of language delay (LDD). DMD patients and DD controls presented normal IQ values. All DMD were more impaired than controls with no LDD on most verbal measures including phonological working memory. DMD also shared with the selected DD population a low speed in RAN tests and impaired performances on working-memory tests. Preliminary observations confirm that DMD patients are at risk for learning problems with a specific deficit in the speed of lexical access. Difficulties in written language could also stem from a sub-optimal functioning of phonological working-memory. It is helpful to identify such profile in order to offer more appropriate educational measures warranting better performances at school.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.