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.
| Original language | English |
|---|---|
| Pages (from-to) | 451-455 |
| Number of pages | 5 |
| Journal | Neuromuscular Disorders |
| Volume | 23 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2013 |
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Keywords
- Cognitive
- Duchenne muscular dystrophy
- Griffiths Mental Scales
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Genetics(clinical)
- Neurology
Cite this
Early neurodevelopmental assessment in Duchenne muscular dystrophy. / Pane, Marika; Scalise, Roberta; Berardinelli, Angela; D'Angelo, Grazia; Ricotti, Valeria; Alfieri, Paolo; Moroni, Isabella; Hartley, Louise; Pera, Maria Carmela; Baranello, Giovanni; Catteruccia, Michela; Casalino, Tiziana; Romeo, Domenico M.; Graziano, Alessandra; Gandioli, Claudia; Bianco, Flaviana; Mazzone, Elena Stacy; Lombardo, Maria Elena; Scoto, Mariacristina; Sivo, Serena; Palermo, Concetta; Gualandi, Francesca; Sormani, Maria Pia; Ferlini, Alessandra; Bertini, Enrico; Muntoni, Francesco; Mercuri, Eugenio.
In: Neuromuscular Disorders, Vol. 23, No. 6, 06.2013, p. 451-455.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early neurodevelopmental assessment in Duchenne muscular dystrophy
AU - Pane, Marika
AU - Scalise, Roberta
AU - Berardinelli, Angela
AU - D'Angelo, Grazia
AU - Ricotti, Valeria
AU - Alfieri, Paolo
AU - Moroni, Isabella
AU - Hartley, Louise
AU - Pera, Maria Carmela
AU - Baranello, Giovanni
AU - Catteruccia, Michela
AU - Casalino, Tiziana
AU - Romeo, Domenico M.
AU - Graziano, Alessandra
AU - Gandioli, Claudia
AU - Bianco, Flaviana
AU - Mazzone, Elena Stacy
AU - Lombardo, Maria Elena
AU - Scoto, Mariacristina
AU - Sivo, Serena
AU - Palermo, Concetta
AU - Gualandi, Francesca
AU - Sormani, Maria Pia
AU - Ferlini, Alessandra
AU - Bertini, Enrico
AU - Muntoni, Francesco
AU - Mercuri, Eugenio
PY - 2013/6
Y1 - 2013/6
N2 - 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.
AB - 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.
KW - Cognitive
KW - Duchenne muscular dystrophy
KW - Griffiths Mental Scales
UR - http://www.scopus.com/inward/record.url?scp=84878623285&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84878623285&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2013.02.012
DO - 10.1016/j.nmd.2013.02.012
M3 - Article
C2 - 23535446
AN - SCOPUS:84878623285
VL - 23
SP - 451
EP - 455
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 6
ER -