TY - JOUR
T1 - Language Development in Preschool Duchenne Muscular Dystrophy Boys
AU - Chieffo, Daniela Pia Rosaria
AU - Moriconi, Federica
AU - Mastrilli, Ludovica
AU - Lino, Federica
AU - Brogna, Claudia
AU - Coratti, Giorgia
AU - Altobelli, Michela
AU - Massaroni, Valentina
AU - Norcia, Giulia
AU - Ferraroli, Elisabetta
AU - Lucibello, Simona
AU - Pane, Marika
AU - Mercuri, Eugenio Maria
PY - 2022
Y1 - 2022
N2 - Background: the present study aims to assess language in preschool-aged Duchenne muscular dystrophy (DMD) boys with normal cognitive quotients, and to establish whether language difficulties are related to attentional aspects or to the involvement of brain dystrophin isoforms. Methods: 20 children aged between 48 and 72 months were assessed with language and attention assessments for preschool children. Nine had a mutation upstream of exon 44, five between 44 and 51, four between 51 and 63, and two after exon 63. A control group comprising 20 age-matched boys with a speech language disorder and normal IQ were also used. Results: lexical and syntactic comprehension and denomination were normal in 90% of the boys with Duchenne, while the articulation and repetition of long words, and sentence repetition frequently showed abnormal results (80%). Abnormal results were also found in tests assessing selective and sustained auditory attention. Language difficulties were less frequent in patients with mutations not involving isoforms Dp140 and Dp71. The profile in Duchenne boys was different form the one observed in SLI with no cognitive impairment. Conclusion: The results of our observational cross-sectional study suggest that early language abilities are frequently abnormal in preschool Duchenne boys and should be assessed regardless of their global neurodevelopmental quotient.
AB - Background: the present study aims to assess language in preschool-aged Duchenne muscular dystrophy (DMD) boys with normal cognitive quotients, and to establish whether language difficulties are related to attentional aspects or to the involvement of brain dystrophin isoforms. Methods: 20 children aged between 48 and 72 months were assessed with language and attention assessments for preschool children. Nine had a mutation upstream of exon 44, five between 44 and 51, four between 51 and 63, and two after exon 63. A control group comprising 20 age-matched boys with a speech language disorder and normal IQ were also used. Results: lexical and syntactic comprehension and denomination were normal in 90% of the boys with Duchenne, while the articulation and repetition of long words, and sentence repetition frequently showed abnormal results (80%). Abnormal results were also found in tests assessing selective and sustained auditory attention. Language difficulties were less frequent in patients with mutations not involving isoforms Dp140 and Dp71. The profile in Duchenne boys was different form the one observed in SLI with no cognitive impairment. Conclusion: The results of our observational cross-sectional study suggest that early language abilities are frequently abnormal in preschool Duchenne boys and should be assessed regardless of their global neurodevelopmental quotient.
KW - Duchenne muscular dystrophy
KW - auditory attention
KW - dystrophin isoforms
KW - language development
KW - visual attention
KW - Duchenne muscular dystrophy
KW - auditory attention
KW - dystrophin isoforms
KW - language development
KW - visual attention
UR - http://hdl.handle.net/10807/216604
U2 - 10.3390/brainsci12091252
DO - 10.3390/brainsci12091252
M3 - Article
SN - 2076-3425
VL - 12
SP - 1252
EP - 1252
JO - Brain Sciences
JF - Brain Sciences
ER -