ELA COG: estudo da cognição em indivíduos com Esclerose Lateral Amiotrófica

Abstract

Amyotrophic lateral sclerosis (ALS) is a rare condition characterized by the impairment of both lower and upper motor neurons. The disease progresses with weakness and atrophy, along with dysfunctions in ventilatory and swallowing functions. It has an estimated incidence of 2 cases per 100,000 inhabitants per year, with about 95% of cases being sporadic and only 5% showing familial inheritance. While its motor manifestations are well-known, non-motor signs and symptoms have not yet been widely studied. Objectives: This study aims to investigate the presence and profile of cognitive impairment in individuals with ALS in both sporadic and familial forms, its correlation with disease progression, and the impact of the disease on patients' quality of life. Methods: This is an observational, crosssectional, controlled study based on primary data. ALS patients over 18 years old, without a prior diagnosis of dementia, were investigated. A sociodemographic questionnaire and a neuropsychological assessment battery were administered, including the following instruments: ALS Cognitive Behavioral Screen (ALSCBS), semantic verbal fluency test, phonemic verbal fluency test, digit span subtest from the Wais III scale, Hopkins Verbal Learning Test-Revised (HVLT-R), five-point test, MiniMental State Examination (MMSE), and social cognition/theory of mind tests Faux Pas and Theory of Mind – 15 (ToM-15). Functionality was assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALS-FRS-R), and the impact of ALS on quality of life was measured by the Short Form Health Survey – 36. Results and discussion: Twenty-two ALS patients and twenty-four healthy controls were recruited. Among the patients, 9 (40.9%) had the sporadic form and 13 (59.1%) had the familial form. The impairment in quality of life was significant only in aspects related to functional capacity, with the two other items with the lowest scores being limitations due to physical aspects and emotional aspects. Significant differences were observed in MMSE and ALSCBS scores between the ALS and control groups, with worse scores associated with the ALS group, and these differences were more evident among those with the familial form when compared to controls. Digit span, HVLT-R (total recall), fivepoint test, and ALSCBS were inversely related to ALS-FRS-R scores, indicating greater cognitive impairment with greater functional impairment related to ALS. For social cognition/theory of mind, significant differences were observed between the ALS and control groups, with these being more clearly associated with the familial ALS group for Faux Pas sub-scores: intention comprehension, false beliefs, empathy, and total score. Significant differences were also observed in the ability to detect false beliefs using the ToM-15 test. Conclusions: Individuals with ALS tend to show alterations in multiple cognitive domains, not all directly related to functional decline. Cognitive impairment was more pronounced in individuals with the familial form compared to the sporadic form, and there is evidence that social cognition impairment may occur early in the disease in this population. The aspects of quality of life most impacted were limitations due to physical and emotional aspects related to ALS.