Clinimetrics of the cognitive section of the Italian ALS Cognitive Behavioral Screen (ALS-CBS™).

BACKGROUND: The present study aimed at (1) providing further validity and reliability evidence for the Italian version of the cognitive section of the ALS Cognitive Behavioral Screen (ALS-CBS™) and (2) testing its diagnostics within an Italian ALS cohort, as well as at (3) exploring its capability to discriminate patients from healthy controls (HCs). METHODS: N = 293 non-demented ALS patients were administered the cognitive sections of the ALS-CBS™ and Edinburgh Cognitive and Behavioural ALS Screen (ECAS). N = 96 HCs demographically matched with N = 96 patients were also administered the cognitive section of the ALS-CBS™. In patients, factorial and construct validity, internal reliability, and diagnostics against a defective score on the cognitive section of the ECAS were tested. Case-control discrimination was assessed via a logistic regression. RESULTS: ALS-CBS™ cognitive subscales were underpinned by a simple, unidimensional structure, internally reliable (McDonald's ω = 0.74), and mostly related with ECAS executive and fluency scores (rs = 0.54-0.71). Both raw and age- and education-adjusted scores on the cognitive section of the ALS-CBS™ accurately detected ECAS-defined cognitive impairment (AUC = 0.80 and .88, respectively), yielding optimal error-based, information-based and unitary diagnostics. A cut-off of < 15.374 was identified on adjusted scores. The test was able to discriminate patients from HCs (p < 0.001). DISCUSSION: The cognitive section of the Italian ALS-CBS™ is a valid, reliable, and diagnostically sound ALS-specific screener for detecting frontotemporal, executive-/attentive-based cognitive inefficiency in non-demented ALS patients, being also able to discriminate them from normotypical individuals.

Taste changes in amyotrophic lateral sclerosis and effects on quality of life.

The primary aim of the study is to evaluate possible taste changes in a cohort of amyotrophic lateral sclerosis patients (pALS) with dysphagia, focusing on eventual psychological and quality of life (QoL) implications. The second aim is to evaluate the changes of QoL following the use of a specific device that provides food flavour. Thirty-two ALS patients were recruited and divided into two groups: subjects feeding only through enteral tube (ET) and subjects still eating by oral way (OW). A specific set of questionnaires was selected and adapted to investigate possible changes of taste and the impact on psychological status and QoL. Moreover, a specific device that provides food flavours in a safety manner was applied to all patients. We found a perceived reduction of taste in ALS patients, in particular in the ET group. All patients showed a strong interest in the preservation of taste, and its loss negatively related to their QoL. The use of the flavour device improved the perceived QoL showing no side effects, even in the ET group. For the first time, our study revealed changes in taste perception in a cohort of ALS patients and the negative consequences that these changes have on psychological status and QoL. Furthermore, the positive effects of the device used to provide flavours suggest a possible rehabilitative effect, which should be better evaluated and confirmed in further studies.

The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden.

PURPOSE: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort. MATERIALS AND METHODS: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects. RESULTS: The Italian translation of the FSHD-HI and its subscales were highly relevant to patients, had a high internal consistency (Cronbach's Alpha = 0.90), optimal test-retest reliability (ICC= 0.95), and was significantly associated with motor function, respiratory function, and QoL assessments. CONCLUSIONS: Overall, the Italian FSHD-HI is a valid and well-suited measurement of the multi-dimensional aspects of disease burden in FSHD patients.

Facioscapulohumeral muscular dystrophy (FSHD) negatively impacts the quality of life and increases the disease burden.It is important for the clinical community to have a valid instrument that can serially measure a patient's perception of their multifactorial disease burden in FSHD.The Facioscapulohumeral Muscular Dystrophy ­ Health Index (FSHD-HI) is a valid instrument that allows patients to provide their perspective regarding their current health state.FSHD-HI-IT provides a valid option for measuring multifactorial disease burden in Italian patients with FSHD during clinical trials.

Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients.

BACKGROUND: The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBS™) in an Italian cohort of non-demented ALS patients. METHODS: ALS-CBS™ and ECAS scores of 293 ALS patients without frontotemporal dementia were retrospectively retrieved. Concurrent validity of the ALS-CBS™ towards the ECAS was tested by covarying for demographics, disease duration and severity, presence of C9orf72 hexanucleotide repeat expansion and behavioural features. A linear-smoothing equipercentile equating (LSEE) model was employed to derive ALS-CBS™-to-ECAS cross-walks. Gaps in LSEE-based estimation were managed via a linear regression-based equating approach. Equivalence between empirical and derived ECAS scores was tested via a two-one-sided test (TOST) procedure for the dependent sample. RESULTS: The ALS-CBS™ predicted the ECAS (ß = 0.75), accounting for the vast majority of its variance (60% out of an R2 = 0.71). Consistently, a strong, one-to-one linear association between ALS-CBS™ and ECAS scores was detected (r = 0.84; R2 = 0.73). The LSEE was able to estimate conversions for the full range of the ALS-CBS™, except for raw scores equal to 1 and 6 - for whom a linear equating-based equation was derived. Empirical ECAS scores were equivalent to those derived with both methods. DISCUSSION: Italian practitioners and researchers have been herewith provided with valid, straightforward cross-walks to estimate the ECAS based on ALS-CBS™ scores in non-demented ALS patients. Conversions herewith provided will help avoid cross-sectional/longitudinal inconsistencies in test adoption within research, and possibly clinical, settings.

A preliminary comparison between ECAS and ALS-CBS in classifying cognitive-behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients.

To define the presence and type of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS), different screening tools have been created. Currently, the most used screening tests are the Edinburgh cognitive and behavioural ALS screen (ECAS) and the ALS cognitive behavioural screen (ALS-CBS). The objective of this study was to compare the ability of ECAS and ALS-CBS in classifying non-demented ALS patients according to Strong criteria. One-hundred and fifty-four in- and out-patients with an age > 18 and a definite or probable ALS diagnosis were recruited between September 2019 and February 2020 at NeMO Clinical Centre and at Istituto Auxologico Italiano in Milan and underwent the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and the ALS Cognitive Behavioural Screen (ALS-CBS). Exclusion criteria involved patients with a diagnosis of FTD, with a severe cognitive deterioration and/or an important behavioural impairment, with a significant psychiatric disorder or with the co-presence of another significant illness. The distribution of patients according to Strong criteria was different for ECAS and ALS-CBS and the degree of agreement between the two tests in terms of Cohen's Kappa coefficient resulted equal to 0.2047 with a 95% confidence limits interval between 0.1122 and 0.2973. This study for the first time compares the ability of ECAS and ALS-CBS in stratifying ALS patients. Further studies will be conducted to better understand the reasons underlying the differences between these two tests in classifying the different subtypes of fronto-temporal dysfunction in ALS.

Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire.

Background: The present investigation aimed at testing the psychometrics and diagnostics of the Italian version of the Caregiver Behavioral Questionnaire (CBQ) from the ALS Cognitive Behavioral Screen (ALS-CBS™), as well as its case-control discrimination, in a cohort of non-demented patients with ALS. Methods: The caregivers of N = 265 non-demented patients with ALS and N = 99 healthy controls (HCs) were administered the CBQ and the Edinburgh Cognitive and Behavioural ALS Screen-Carer Interview (ECAS-CI). For N = 98 patients, an in-depth behavioural/psychopathological assessment via the Frontal Behavioural Inventory (FBI), the Dimensional Apathy Scale (DAS), the State and Trait Anxiety Inventory-Form Y (STAI-Y), and the Beck Depression Inventory (BDI) was also available. Factorial and construct validity, internal reliability, and diagnostics against an abnormal ECAS-CI score were tested in patients. Case-control discrimination was explored through logistic regression. Results: The CBQ was internally reliable (McDonald's ω = 0.90) and underpinned by a simple, unidimensional structure; it converged with ECAS-CI, FBI, and DAS scores and diverged from STAI-Y and BDI ones. A cutoff of ≤ 33 accurately detected abnormal ECAS-CI scores (AUC = 0.85), yielding optimal error- and information-based diagnostics. The CBQ was independent of demographic and disease-related variables and discriminated patients from HCs (p < 0.001). Discussion: The Italian version of the CBQ from the ALS-CBS™ is a valid, reliable, diagnostically sound, and feasible screener for detecting frontotemporal-like behavioural changes in non-demented patients with ALS. Its adoption is thus recommended within clinical practice and research in the view of providing preliminary information on whether the administration of more extensive behavioural instruments is needed.

Ocular Involvement Occurs Frequently at All Stages of Amyotrophic Lateral Sclerosis: Preliminary Experience in a Large Italian Cohort.

BACKGROUND AND PURPOSE: The study aimed to obtain optometric findings of amyotrophic lateral sclerosis (ALS) patients in different stages of the disease, and to determine the relation between ocular data and ALS-related features; that is, functional and cognitive impairment and staging. METHODS: The optometric protocol included tests of the ocular motility [broad-H test and Northeastern State University College of Optometry (NSUCO) test], near point of convergence (NPC), error refraction, best-corrected visual acuity, and binocular visual alignment, and an ocular symptoms questionnaire. The functional measures included the Amyotrophic Lateral Sclerosis Functional Rating Scale-revised (ALSFRS-r) and Milano-Torino staging (MiToS), and cognitive impairment was assessed using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS). Demographic and clinical features were also collected, including whether the patients used an eye-tracking communication device (ETCD). RESULTS: Two-hundred consecutive ALS patients (median age of 64 years, 118 males and 82 females) in different stages of disease were recruited. Nearly 70% of patients reported at least one ocular symptom, and the use of an ETCD was found to be significantly related to the presence of most symptoms. Moreover, the severely symptomatic group was characterized by significantly lower ALSFRS-r total and subscale scores, and higher MiToS. Abnormal NPC values were significantly related to lower ALSFRS-r total and bulbar-subscale scores. Patients with acceptable NSUCO test values exhibited significantly higher ECAS scores. CONCLUSIONS: The presence of ocular alteration in patients in different stages of ALS supports the idea that this is a multisystem disorder and emphasizes the importance of optometric evaluations in multidisciplinary assessments to address ocular impairment early in the disease process.

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts. Internal consistency in an additional 98 patients (24 children, 74 adults) was also excellent (Cronbach's alpha = 0.93 and 0.91 respectively). In children the highest level of disease burden was generated from lower limb dysfunction and fatigue as well as their perception of decreased performance in social situations. Most patients in the adult cohort were sitters and complained of problems with upper limb functions as well as of fatigue. The SMAHI-IT was also able to differentiate between SMA types according to diseases severity. The results of our study demonstrate that the SMAHI can be considered a marker of disease-specific burden in patients with SMA with a high test-retest reliability and internal validity in Italian patients aged 12 and older.

Unraveling Moral Reasoning in Amyotrophic Lateral Sclerosis: How Emotional Detachment Modifies Moral Judgment.

In the last decade, scientific literature provided solid evidence of cognitive deficits in amyotrophic lateral sclerosis (ALS) patients and their effects on end-life choices. However, moral cognition and judgment are still poorly investigated in this population. Here we aimed at evaluating both socio-cognitive and socio-affective components of moral reasoning in a sample of 28 ALS patients. Patients underwent clinical and neuropsychological evaluation including basic cognitive and social cognition measures. Additionally, we administered an experimental task including moral dilemmas, with instrumental and incidental conditions. Patients' performances were compared with a control group [healthy control (HC)], including 36 age-, gender-, and education-matched healthy subjects. Despite that the judgment pattern was comparable in ALS and HC, patients resulted less prone to carry out a moral transgression compared to HC. Additionally, ALS patients displayed higher levels of moral permissibility and lower emotional arousal, with similar levels of engagement in both instrumental and incidental conditions. Our findings expanded the current literature about cognitive deficits in ALS, showing that in judging moral actions, patients may present non-utilitarian choices and emotion flattening. Such a decision-making profile may have relevant implications in applying moral principles in real-life situations and for the judgment of end-of-life treatments and care in clinical settings.