Computational cognitive modeling and validation of Dp140 induced alteration of working memory in Duchenne Muscular Dystrophy.

Scientific Reports
Rahul TyagiAkshay Anand

Abstract

Duchenne Muscular Dystrophy has emerged as a model to assess cognitive domains. The DMD gene variant location and its association with variable degrees of cognitive impairment necessitate identification of a common denominator. Computer architectures provide a framework to delineate the mechanisms involved in the cognitive functioning of the human brain. Copy number variations in the 79 exons of DMD gene were screened in 84 DMD subjects by Multiplex Ligation-dependent Probe Amplification (MLPA). DMD subjects were categorized based on the presence or absence of DP140 isoform. The cognitive and neuropsychological assessments were carried out as per inclusion criteria using standard scales. Instance-based learning theory (IBLT) based on the partial matching process was developed to mimic Stroop Color and Word Task (SCWT) performance on Adaptive Control of Thought-Rational (ACT-R) cognitive architecture based on IBLT. Genotype-phenotype correlation was conducted based on the mutation location in DMD gene. Assessment of specific cognitive domains in DP140 - ve group corresponded to the involvement of multiple brain lobes including temporal (verbal and visual learning and memory), parietal (visuo-conceptual and visuo-constructive abi...Continue Reading

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Citations

Sep 24, 2021·Pflügers Archiv : European journal of physiology·Kay Ohlendieck, Dieter Swandulla

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Software Mentioned

IBLT
R
NET
STROOP
coffalyser
ACT
SPSS

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