Attention deficit hyperactivity disorder and cognitive function in duchenne muscular dystrophy: Phenotype-genotype correlation

Marika Pane, Maria Elena Lombardo, Paolo Alfieri, Adele D'Amico, Flaviana Bianco, Gessica Vasco, Giorgia Piccini, Maria Mallardi, Domenico M. Romeo, Valeria Ricotti, Alessandra Ferlini, Francesca Gualandi, Stefano Vicari, Enrico Bertini, Angela Berardinelli, Eugenio Mercuri

Research output: Contribution to journalArticle

54 Citations (Scopus)

Abstract

Objectives: 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. Study design: 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.

Original languageEnglish
JournalJournal of Pediatrics
Volume161
Issue number4
DOIs
Publication statusPublished - Oct 2012

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Duchenne Muscular Dystrophy
Genetic Association Studies
Attention Deficit Disorder with Hyperactivity
Cognition
Intellectual Disability
Exons
Dystrophin
Mutation
Wechsler Scales
Aptitude
Genetic Promoter Regions
Protein Isoforms
Parents
Brain

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Attention deficit hyperactivity disorder and cognitive function in duchenne muscular dystrophy : Phenotype-genotype correlation. / Pane, Marika; Lombardo, Maria Elena; Alfieri, Paolo; D'Amico, Adele; Bianco, Flaviana; Vasco, Gessica; Piccini, Giorgia; Mallardi, Maria; Romeo, Domenico M.; Ricotti, Valeria; Ferlini, Alessandra; Gualandi, Francesca; Vicari, Stefano; Bertini, Enrico; Berardinelli, Angela; Mercuri, Eugenio.

In: Journal of Pediatrics, Vol. 161, No. 4, 10.2012.

Research output: Contribution to journalArticle

Pane, Marika ; Lombardo, Maria Elena ; Alfieri, Paolo ; D'Amico, Adele ; Bianco, Flaviana ; Vasco, Gessica ; Piccini, Giorgia ; Mallardi, Maria ; Romeo, Domenico M. ; Ricotti, Valeria ; Ferlini, Alessandra ; Gualandi, Francesca ; Vicari, Stefano ; Bertini, Enrico ; Berardinelli, Angela ; Mercuri, Eugenio. / Attention deficit hyperactivity disorder and cognitive function in duchenne muscular dystrophy : Phenotype-genotype correlation. In: Journal of Pediatrics. 2012 ; Vol. 161, No. 4.
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AU - D'Amico, Adele

AU - Bianco, Flaviana

AU - Vasco, Gessica

AU - Piccini, Giorgia

AU - Mallardi, Maria

AU - Romeo, Domenico M.

AU - Ricotti, Valeria

AU - Ferlini, Alessandra

AU - Gualandi, Francesca

AU - Vicari, Stefano

AU - Bertini, Enrico

AU - Berardinelli, Angela

AU - Mercuri, Eugenio

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N2 - Objectives: 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. Study design: 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.

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