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

被引：21

作者：

Battini, R. ^{[1
,2
]}

Lenzi, S. ^{[1
]}

Lucibello, S. ^{[3
,4
]}

Chieffo, D. ^{[3
,4
]}

Moriconi, F. ^{[3
,4
]}

Cristofani, P. ^{[1
]}

Bulgheroni, S. ^{[5
]}

Cumbo, F. ^{[6
]}

Pane, M. ^{[3
,4
]}

Baranello, G. ^{[5
]}

Alfieri, P. ^{[6
]}

Astrea, G. ^{[1
]}

Cioni, G. ^{[1
,2
]}

Vicari, S. ^{[6
,7
]}

Mercuri, E. ^{[3
,4
]}

机构：

[1] IRCCS Fdn Stella Maris, Dept Dev Neurosci, Viale Tirreno 341-ABC, I-56128 Pisa, Italy

[2] Univ Pisa, Dept Clin & Expt Med, Via Savi10, I-56126 Pisa, Italy

[3] Catholic Univ, Pediat Neurol Unit, Largo Agostino Gemelli 8, Rome, Italy

[4] Policlin Univ Gemelli, Nemo Ctr, Largo Agostino Gemelli 8, Rome, Italy

[5] Fdn IRCCS Ist Neurol Carlo Besta, Dev Neurol Div, Via Celoria 11, Milan, Italy

[6] IRCCS Bambino Gesu Childrens Hosp, Dept Neurol & Psychiat Sci, Child & Adolescent Neuropsychiat Unit, Piazza St Onofrio 4, I-00165 Rome, Italy

[7] Catholic Univ, Dept Life Sci & Publ Hlth, Largo Agostino Gemelli 8, Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2021年 / 31卷 / 04期

关键词：

Duchenne muscular dystrophy (DMD); Neuropsychological profile; Executive functions; Working memory; Cerebellum; VERBAL WORKING-MEMORY; EXECUTIVE FUNCTION; CHILDREN; LOCALIZATION; INHIBITION;

D O I：

10.1016/j.nmd.2021.01.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：319 / 327

页数：9

共 48 条

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