Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations

Developmental Medicine and Child Neurology - Tập 58 Số 1 - Trang 77-84 - 2016
Valeria Ricotti1, William Mandy2, Mariacristina Scoto1, Marika Pane3, Nicolas Deconinck4,5, Sonia Messina6, Eugenio Mercuri3,1, David Skuse2, Francesco Muntoni1
1Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
2Behavioural and Brain Sciences Unit, UCL Institute of Child Health, London, UK
3Department of Paediatric Neurology, Catholic University, Rome, Italy
4Department of Paediatric Neurology NMRC Universitair Ziekenhuis Gent Gent Belgium
5Paediatric Neurology Department Hôpital Universitaire des Enfants Reine Fabiola Universite Libre de Bruxelles Brussels Belgium
6Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy

Tóm tắt

AimDuchenne 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.MethodOne 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.ResultsThe 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.InterpretationMales 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.

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Developmental Medicine and Child Neurology

Tập 58 Số 1

77-84

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