title: Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.
abstract: Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of < 70 was seen in 27%; learning disability in 44%, intellectual disability in 19%; attention-deficit/hyperactivity disorder in 32%; autism spectrum disorders in 15%; and anxiety in 27%. Mutations affecting Dp260 isoform and 5'untranslated region of Dp140 were observed in 60% with learning disability, 50% intellectual disability, 77% with autism spectrum disorders, and 94% with anxiety. No statistically significant correlation was noted between comorbidities and dystrophin isoforms; however, there is a trend of cumulative loss of dystrophin isoforms with declining full-scale IQ. Enhanced psychology testing to include both cognitive and neurobehavioral disorders is recommended for all individuals with Duchenne muscular dystrophy.
authors: Department of Paediatrics, Division of Developmental Paediatrics, University of Toronto, Toronto, ON, Canada Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
authors: Rudaina
authors: R
authors: Banihani
authors: Department of Paediatrics, Division of Developmental Paediatrics, University of Toronto, Toronto, ON, Canada Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
authors: Sharon
authors: S
authors: Smile
authors: Departments of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
authors: Grace
authors: G
authors: Yoon
authors: Biostatistics, Design and Analysis Division, Child Health Evaluative Sciences Research Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada Dalla Lana School of Public Health, Department of Biostatistics, University of Toronto, Toronto, ON, Canada.
authors: Annie
authors: A
authors: Dupuis
authors: Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
authors: Maureen
authors: M
authors: Mosleh
authors: Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
authors: Andrea
authors: A
authors: Snider
authors: Department of Paediatrics, Division of Developmental Paediatrics, University of Toronto, Toronto, ON, Canada Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada lmcadam@hollandbloorview.ca.
authors: Laura
authors: L
authors: McAdam
mesh_terms: D002648:Child; D002675:Child, Preschool; D003071:Cognition; D015897:Comorbidity; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D007223:Infant; D007360:Intelligence / Q000235:genetics; D007361:Intelligence Tests; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology / Q000235:genetics / Q000523:psychology*; D009154:Mutation; D009483:Neuropsychological Tests; D015995:Prevalence; D020033:Protein Isoforms; D012189:Retrospective Studies
chemical_list: D016189:Dystrophin; D020033:Protein Isoforms
keywords: Dp140 isoform; Dp71 isoforms; Duchenne muscular dystrophy; behavioral and developmental disorders; cognitive impairment