title: Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
abstract: OBJECTIVE
  To assess attention deficit hyperactivity disorder (ADHD) in boys affected by Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities and genetic findings.
  
  
  METHODS
  Boys with DMD (n = 103; 4-17 years of age, mean: 12.6) were assessed using a cognitive test (Wechsler scales). Assessment of ADHD was based on the Diagnostic Statistical Manual, Fourth Edition, Text Revision criteria and on the long version of the Conners Parents and Teachers Rating Scales.
  
  
  RESULTS
  ADHD was found in 33 of the 103 boys with DMD. Attention problems together with hyperactivity (17/33) or in isolation (15/33) were more frequent than hyperactivity alone, which was found in 1 patient. Intellectual disability (ID) was found in 27/103 (24.6%). Sixty-two of the 103 boys had no ID and no ADHD, 9 had ID but no ADHD, 14 had ADHD but no ID, and 18 had both. ADHD occurred more frequently in association with mutations predicted to affect Dp140 expression (exon 45-55) and in those with mutations predicted to affect all dystrophin product, including Dp71 (ie, those that have promoter region and specific first exon between exons 62 and 63 but were also relatively frequent).
  
  
  CONCLUSIONS
  Our results suggest that ADHD is a frequent feature in DMD. The risk of ADHD appears to be higher in patients carrying mutations predicted to affect dystrophin isoforms expressed in the brain and are known to be associated with higher risk of cognitive impairment.
authors.affiliation: Department of Pediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Lombardo
authors.forename: Paolo
authors.initials: P
authors.lastname: Alfieri
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Flaviana
authors.initials: F
authors.lastname: Bianco
authors.forename: Gessica
authors.initials: G
authors.lastname: Vasco
authors.forename: Giorgia
authors.initials: G
authors.lastname: Piccini
authors.forename: Maria
authors.initials: M
authors.lastname: Mallardi
authors.forename: Domenico M
authors.initials: DM
authors.lastname: Romeo
authors.forename: Valeria
authors.initials: V
authors.lastname: Ricotti
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Angela
authors.initials: A
authors.lastname: Berardinelli
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D003072:Cognition Disorders / Q000453:epidemiology; D015897:Comorbidity; D016189:Dystrophin / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011446:Prospective Studies; D020033:Protein Isoforms
chemical_list: D016189:Dystrophin; D020033:Protein Isoforms