The aim of the study was to re-assess neuropsychological profile in a group of boys with Duchenne muscular dystrophy without intellectual disability and neuropsychiatric disorder three years apart from a previous evaluation, to establish possible changes over time. We were also interested in defining more in detail correlation between genotype and neuropsychological phenotype. Thirty-three of the previous 40 subjects (mean age at follow up: 10 years and 7 months) agreed to participate in the follow up study and to perform the new assessment. The results confirm a typical neuropsychological profile, with difficulty in the manipulation of stored information, poor abstract reasoning and planning capacity and impulsiveness, supporting the involvement of a cerebellar striatal cortical network for these children. The more detailed description of subgroups of subjects, according to the real expression of Dp140, let to reveal possible genotype-neuropsychological phenotype correlations, and a more general neuropsychological impairment emerged in boys without Dp140 expression.(c) 2021 Elsevier B.V. All rights reserved.

Battini, R., Lenzi, S., Lucibello, S., Chieffo, D. P. R., Moriconi, F., Cristofani, P., Bulgheroni, S., Cumbo, F., Pane, M., Baranello, G., Alfieri, P., Astrea, G., Cioni, G., Vicari, S., Mercuri, E. M., Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment, <<NEUROMUSCULAR DISORDERS>>, 2021; 31 (4): 319-327. [doi:10.1016/j.nmd.2021.01.011] [https://hdl.handle.net/10807/244180]

Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment

Battini, Roberta;Lucibello, Simona;Chieffo, Daniela Pia Rosaria;Pane, Marika;Baranello, Giovanni;Vicari, Stefano;Mercuri, Eugenio Maria
2021

Abstract

The aim of the study was to re-assess neuropsychological profile in a group of boys with Duchenne muscular dystrophy without intellectual disability and neuropsychiatric disorder three years apart from a previous evaluation, to establish possible changes over time. We were also interested in defining more in detail correlation between genotype and neuropsychological phenotype. Thirty-three of the previous 40 subjects (mean age at follow up: 10 years and 7 months) agreed to participate in the follow up study and to perform the new assessment. The results confirm a typical neuropsychological profile, with difficulty in the manipulation of stored information, poor abstract reasoning and planning capacity and impulsiveness, supporting the involvement of a cerebellar striatal cortical network for these children. The more detailed description of subgroups of subjects, according to the real expression of Dp140, let to reveal possible genotype-neuropsychological phenotype correlations, and a more general neuropsychological impairment emerged in boys without Dp140 expression.(c) 2021 Elsevier B.V. All rights reserved.
2021
Inglese
Battini, R., Lenzi, S., Lucibello, S., Chieffo, D. P. R., Moriconi, F., Cristofani, P., Bulgheroni, S., Cumbo, F., Pane, M., Baranello, G., Alfieri, P., Astrea, G., Cioni, G., Vicari, S., Mercuri, E. M., Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment, <<NEUROMUSCULAR DISORDERS>>, 2021; 31 (4): 319-327. [doi:10.1016/j.nmd.2021.01.011] [https://hdl.handle.net/10807/244180]
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