The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis

• Published in: Acta neurologica Belgica 2024-02, Vol.124 (1), p.223-230
• Main Authors: Di Stasi, Martina, Cocozza, Sirio, Buccino, Sara, Paolella, Chiara, Di Napoli, Linda, D’Amico, Alessandra, Melis, Daniela, Ugga, Lorenzo, Villano, Gianmichele, Ruocco, Manuel, Scala, Iris, Brunetti, Arturo, Elefante, Andrea
• Format: Article
• Language: English
• Subjects: Adolescent; Biomedical and Life Sciences; Biomedicine; Brain - diagnostic imaging; Child; Child, Preschool; Cognition; Humans; Language Development Disorders; Magnetic Resonance Imaging - methods; Medicine/Public Health; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnostic imaging; Neurology; Neuroradiology; Neurosciences; Original; Original Article; Retrospective Studies
• ISSN: 0300-9009; 2240-2993
• DOI: 10.1007/s13760-023-02381-0

Purpose Cognitive impairment is described in 80% of Neurofibromatosis type 1 (NF1) patients. Brain focal areas of T2w increased signal intensity on MRI, the so-called Unidentified Bright Objects (UBOs) have been hypothesized to be related to cognitive dysfunction, although conflicting results are available in literature. Here, we investigated the possible relation between UBOs’ volume, cognitive impairment, and language disability in NF1 patients. Material and methods In this retrospective study, clinical and MRI data of 21 NF1 patients (M/F = 12/9; mean age 10.1 ± 4.5) were evaluated. Brain intellectual functioning and language abilities were assessed with specific scales, while the analyzed MRI sequences included axial 2D-T2-weighted and FLAIR sequences. These images were used independently for UBOs segmentation with a semiautomatic approach and obtained volumes were normalized for biparietal diameters to take into account for brain volume. Possible differences in terms of normalized UBOs volumes were probed between cognitively affected and preserved patients, as well as between subjects with or without language impairment. Results Patients cognitively affected were not different in terms of UBOs volume compared to those preserved ( p  = 0.35 and p  = 0.30, for T2-weighted and FLAIR images, respectively). Similarly, no differences were found between patients with and without language impairment ( p  = 0.47 and p  = 0.40, for the two sequences). Conclusions The relation between UBOs and cognition in children with NF1 has been already investigated in literature, although leading to conflicting results. Our study expands the current knowledge, showing a lack of correlation between UBOs volume and both cognitive impairment and language disability in NF1 patients.