Biomaterial Database

Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment. 2021

R Battini, and S Lenzi, and S Lucibello, and D Chieffo, and F Moriconi, and P Cristofani, and S Bulgheroni, and F Cumbo, and M Pane, and G Baranello, and P Alfieri, and G Astrea, and G Cioni, and S Vicari, and E Mercuri

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 341/ ABC, Calambrone, Pisa 56128, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Via Savi10, 56126 Pisa, Italy. Electronic address: rbattini@fsm.unipi.it.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009483	Neuropsychological Tests	Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.	Aphasia Tests,Cognitive Test,Cognitive Testing,Cognitive Tests,Memory for Designs Test,Neuropsychological Testing,AX-CPT,Behavioral Assessment of Dysexecutive Syndrome,CANTAB,Cambridge Neuropsychological Test Automated Battery,Clock Test,Cognitive Function Scanner,Continuous Performance Task,Controlled Oral Word Association Test,Delis-Kaplan Executive Function System,Developmental Neuropsychological Assessment,Hooper Visual Organization Test,NEPSY,Neuropsychologic Tests,Neuropsychological Test,Paced Auditory Serial Addition Test,Repeatable Battery for the Assessment of Neuropsychological Status,Rey-Osterrieth Complex Figure,Symbol Digit Modalities Test,Test of Everyday Attention,Test, Neuropsychological,Tests, Neuropsychological,Tower of London Test,Neuropsychologic Test,Test, Cognitive,Testing, Cognitive,Testing, Neuropsychological,Tests, Cognitive
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002531	Cerebellum	The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.	Cerebella,Corpus Cerebelli,Parencephalon,Cerebellums,Parencephalons
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D056344	Executive Function	A set of cognitive functions that controls complex, goal-directed thought and behavior. Executive function involves multiple domains, such as CONCEPT FORMATION, goal management, cognitive flexibility, INHIBITION control, and WORKING MEMORY. Impaired executive function is seen in a range of disorders, e.g., SCHIZOPHRENIA; and ADHD.	Executive Control,Executive Controls,Executive Functions,Function, Executive,Functions, Executive