title: Early neurodevelopmental assessment in Duchenne muscular dystrophy.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.forename: Roberta
authors.initials: R
authors.lastname: Scalise
authors.forename: Angela
authors.initials: A
authors.lastname: Berardinelli
authors.forename: Grazia
authors.initials: G
authors.lastname: D'Angelo
authors.forename: Valeria
authors.initials: V
authors.lastname: Ricotti
authors.forename: Paolo
authors.initials: P
authors.lastname: Alfieri
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Louise
authors.initials: L
authors.lastname: Hartley
authors.forename: Maria Carmela
authors.initials: MC
authors.lastname: Pera
authors.forename: Giovanni
authors.initials: G
authors.lastname: Baranello
authors.forename: Michela
authors.initials: M
authors.lastname: Catteruccia
authors.forename: Tiziana
authors.initials: T
authors.lastname: Casalino
authors.forename: Domenico M
authors.initials: DM
authors.lastname: Romeo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Graziano
authors.forename: Claudia
authors.initials: C
authors.lastname: Gandioli
authors.forename: Flaviana
authors.initials: F
authors.lastname: Bianco
authors.forename: Elena Stacy
authors.initials: ES
authors.lastname: Mazzone
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Lombardo
authors.forename: Mariacristina
authors.initials: M
authors.lastname: Scoto
authors.forename: Serena
authors.initials: S
authors.lastname: Sivo
authors.forename: Concetta
authors.initials: C
authors.lastname: Palermo
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Sormani
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D016189:Dystrophin / Q000235:genetics*; D042241:Early Diagnosis; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics
chemical_list: D016189:Dystrophin; D020033:Protein Isoforms