Article

Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric
disorders. The aim of the study was to characterize the DMD neuropsychiatric
profile fully and to explore underlying genotype/phenotype associations. METHOD: One hundred and thirty males with DMD (mean age 9y 10mo, range 5-17y) in four
European centres were included and completed IQ assessment and a
neurodevelopmental-screening questionnaire. Of these, 87 underwent comprehensive
neuropsychiatric assessment using structured diagnostic interview and
parent-reported questionnaires. RESULTS: The overall mean score on the
neurodevelopmental questionnaire was significantly abnormal compared with the
general population of children (p<0.001). On average, intelligence was below the
population mean, with intellectual disability observed in 34 males (26%).
Autistic spectrum disorder was identified in 18 (21%), hyperactivity in 21 (24%),
and inattention in 38 (44%). Clinical levels of internalizing and externalizing
problems were observed in 21 (24%) and 13 (15%) respectively. Over a third of
males scored more than two measures of emotional, behavioural, or
neurodevelopmental problems. Males with mutations at the 3' end of the DMD gene
affecting all protein isoforms had higher rates of intellectual disability and
clusters of symptoms. INTERPRETATION:
Males with DMD are at very high risk of
neuropsychiatric disturbance, and this risk appears to increase with mutations at
the 3' end of the gene. Patterns of symptom clusters suggest a DMD
neuropsychiatric syndrome, which may require prompt evaluation and early
intervention.
CI - (c) 2015 Mac Keith Press.

Langue : ANGLAIS