Costanzo Floriana, Alfieri Paolo, Caciolo Cristina, Bergonzini Paola, Perrino Francesca, Zampino Giuseppe, Leoni Chiara, Menghini Deny, Digilio Maria Cristina, Tartaglia Marco, Vicari Stefano, Carlesimo Giovanni Augusto
Child and Adolescent Psychiatric Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Brain Sci. 2021 Jan 29;11(2):169. doi: 10.3390/brainsci11020169.
Noonan syndrome (NS) and the clinically related NS with multiple lentiginous (NMLS) are genetic conditions characterized by upregulated RAS mitogen activated protein kinase (RAS-MAPK) signaling, which is known to impact hippocampus-dependent memory formation and consolidation. The aim of the present study was to provide a detailed characterization of the recognition memory of children and adolescents with NS/NMLS. We compared 18 children and adolescents affected by NS and NMLS with 22 typically developing (TD) children, matched for chronological age and non-verbal Intelligence Quotient (IQ), in two different experimental paradigms, to assess familiarity and recollection: a Process Dissociation Procedure (PDP) and a Task Dissociation Procedure (TDP). Differences in verbal skills between groups, as well as chronological age, were considered in the analysis. Participants with NS and NSML showed reduced recollection in the PDP and impaired associative recognition in the TDP, compared to controls. These results indicate poor recollection in the recognition memory of participants with NS and NSML, which cannot be explained by intellectual disability or language deficits. These results provide evidence of the role of mutations impacting RAS-MAPK signaling in the disruption of hippocampal memory formation and consolidation.
努南综合征（NS）以及临床上与之相关的多发性雀斑样痣努南综合征（NMLS）是遗传性疾病，其特征为RAS丝裂原活化蛋白激酶（RAS-MAPK）信号上调，已知该信号会影响海马体依赖性记忆的形成和巩固。本研究的目的是详细描述患有NS/NMLS的儿童和青少年的识别记忆。我们将18名受NS和NMLS影响的儿童和青少年与22名发育正常（TD）的儿童进行比较，这些儿童在年龄和非语言智商（IQ）上相匹配，采用两种不同的实验范式来评估熟悉度和回忆：过程分离程序（PDP）和任务分离程序（TDP）。分析中考虑了组间语言技能差异以及年龄。与对照组相比，患有NS和NSML的参与者在PDP中回忆减少，在TDP中联想识别受损。这些结果表明，患有NS和NSML的参与者在识别记忆中的回忆较差，这不能用智力残疾或语言缺陷来解释。这些结果为影响RAS-MAPK信号的突变在破坏海马体记忆形成和巩固中的作用提供了证据。
