Citation

Maresca G, Bonanno C, Veneziani I, Buono VL, Latella D, Quartarone A, Marino S, Formica C. J. Clin. Med. 2024; 13(5).

Copyright

(Copyright © 2024, MDPI: Multidisciplinary Digital Publishing Institute)

DOI

10.3390/jcm13051432

PMID

38592693

PMCID

PMC10931953

Abstract

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a genetic autosomal dominant disorder that affects both the central and peripheral nervous systems. Children and adolescents with NF1 commonly experience neuropsychological, motor, and behavioral deficits. The cognitive profile hallmark of this disorder includes visuospatial and executive function impairments. These cognitive disorders may persist into adulthood. This study aims to analyze previous research studies that have described cognitive dysfunctions in adults with NF1. The purpose of this analysis is to review the neuropsychological and psychological assessment methods used.

METHODS: A total of 327 articles were identified based on the search terms in their titles and abstracts. The evaluation was conducted by scrutinizing each article's title, abstract, and text.

RESULTS: Only 16 articles were found to be eligible for inclusion based on the pre-defined criteria. The selected studies primarily focus on the development of diagnostic protocols for individuals with NF1.

CONCLUSIONS: The management of NF1 disease requires a multidisciplinary approach to address symptoms, preserve neurological functions, and ensure the best possible quality of life. However, cognitive impairment can negatively affect psychological well-being. This study suggested that cognitive functions in NF1 patients were not tested using specific measures, but rather were evaluated through intelligence scales. Additionally, the findings revealed that there is no standardized neuropsychological assessment for adults with NF1. To address this gap, it would be helpful to create a specific neuropsychological battery to study cognitive function in NF1 patients during clinical studies. This battery could also serve as a tool to design models for cognitive rehabilitation by using reliable and sensitive measures of cognitive outcomes.

Language: en

Keywords

cognitive impairment; executive functions; neurofibromatosis Type 1; neuropsychological assessment; neurorehabilitation; visuospatial functions