Early neurodevelopmental assessment in Duchenne muscular dystrophy

Marika Pane, Roberta Scalise, Angela Berardinelli, Grazia D'Angelo, Valeria Ricotti, Paolo Alfieri, Isabella Moroni, Louise Hartley, Maria Carmela Pera, Giovanni Baranello, Michela Catteruccia, Tiziana Casalino, Domenico Marco Romeo, Alessandra Graziano, Claudia Gandioli, Flaviana Bianco, Elena Stacy Mazzone, Maria Elena Lombardo, Mariacristina Scoto, Serena SivoConcetta Palermo, Francesca Gualandi, Maria Pia Sormani, Alessandra Ferlini, Enrico Bertini, Francesco Muntoni, Eugenio Maria Mercuri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

40 Citazioni (Scopus)


The aim of this study was to assess neurodevelopmental profile in young boys affected by Duchenne muscular dystrophy and to establish the correlation between neurodevelopmental findings, and the type and site of mutations. A structured neurodevelopmental assessment (Griffiths Scale of Mental Development) was performed in 81 DMD boys before the age of four years (range: 7-47 months). The mean total DQ was 87 (SD 15.3). Borderline DQ (between 70 and 84) was found in 32% and DQ below 70 in 12.3% of the patients. Children with mutations upstream or in exon 44 had higher DQ than those with mutations downstream exon 44 which are associated with involvement of dystrophin isoforms expressed at high levels in brain. The difference was significant for total and individual subscale DQ with the exception of the locomotor subscale. Items, such as ability to run fast, or getting up from the floor consistently failed in all children, irrespective of the age or of the site of mutation. Our results help to understand the possible different mechanisms underlying the various aspects of neurodevelopmental delay, suggesting that the involvement of brain dystrophin isoforms may cause a delay in the maturation of coordination and dexterity.
Lingua originaleEnglish
pagine (da-a)451-455
Numero di pagine5
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2013


  • Child, Preschool
  • Chromosome Mapping
  • Dystrophin
  • Early Diagnosis
  • Exons
  • Humans
  • Infant
  • Male
  • Muscular Dystrophy, Duchenne
  • Mutation
  • Protein Isoforms


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