Di Stasi, Martina (2022) The role of UBOs in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis. [Tesi di dottorato]

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Item Type: Tesi di dottorato
Resource language: English
Title: The role of UBOs in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis
Creators:
Creators
Email
Di Stasi, Martina
martinadistasi@live.it
Date: 10 December 2022
Number of Pages: 18
Institution: Università degli Studi di Napoli Federico II
Department: Scienze Biomediche Avanzate
Dottorato: Scienze biomorfologiche e chirurgiche
Ciclo di dottorato: 35
Coordinatore del Corso di dottorato:
nome
email
Cuocolo, Alberto
UNSPECIFIED
Tutor:
nome
email
Elefante, Andrea
UNSPECIFIED
Date: 10 December 2022
Number of Pages: 18
Keywords: Neurofibromatosis; UBOs; MRI
Settori scientifico-disciplinari del MIUR: Area 06 - Scienze mediche > MED/37 - Neuroradiologia
Area 06 - Scienze mediche > MED/38 - Pediatria generale e specialistica
Date Deposited: 16 Dec 2022 18:24
Last Modified: 09 Apr 2025 14:10
URI: http://www.fedoa.unina.it/id/eprint/14683

Collection description

Introduction: Cognitive impairment is described in 80% of NF1 children, with a general lowering of one standard deviation in IQ scores, and language disabilities found in about 50% of cases. Given their prevalence, UBOs have been hypothesized to be related with cognitive dysfunction and extensively indagated in literature, with conflicting results. Given this background, we tried to investigate the relation between UBOs’ volume, cognitive and language impairment. Materials and Methods: We retrospectively recruited 21 NF1 children: intellectual functioning and language abilities were assessed with WISC IV. MRI data were acquired on the same scanner. Axial TSE T2-weighted and FLAIR images were used for the UBOs segmentation. The presence and extent of OPG were evaluated. UBOs volumes’ differences between cognitively affected and preserved patients, and between subjects with or without language impairment were tested via General Linear Model analyses. As previous data suggested an association between OPG and UBOs, we investigated if a similar feature was present in our group. Volume disparities evaluated on FLAIR or T2-weighted images were verified via paired t test. RESULTS: We found a significantly higher lesional volumes when segmentation was obtained on FLAIR images. When probing possible differences between cognitively affected and preserved patients, we failed to find significant differences. No differences occurred between patients with or without language impairment and with and without OPG. Given the available literature, we hypothesized that cognitive impairment and language deficit might be related to pervasive abnormal connectivity and corroborated the hypothesis that UBOs don’t play a significant role in determining the neurocognitive profile

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