Neuropsychological profile in parents of adult phenylketonuria patients.

Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e., patients' parents) were described with low verbal intelligence quotient, but no study systematically investigated cognitive functions in PKU parents. To obtain a neuropsychological profile in heterozygotes, we compared cognitive performance of heterozygotes and healthy controls (HC) on cognitive battery. Twelve heterozygotes and 14 HCs underwent standardized neuropsychological tasks assessing frontal/executive functions, memory, and visuospatial abilities. No significant difference between heterozygotes and HC was found on demographic aspects. Heterozygotes performed worse than HC on immediate verbal recall, on test assessing set-shifting, divided attention, and sensitivity to processing speed. No difference was found on the remaining cognitive tests.In conclusions, we observed less efficient control/executive functions in heterozygotes when compared to HCs. Further studies in large sample of heterozygotes should be performed to confirm our results.

Assessment of apathy minimising the effect of motor dysfunctions in Parkinson's disease: a validation study of the dimensional apathy scale.

PURPOSE: Apathy is associated with motor symptoms in Parkinson's disease (PD); therefore, its evaluation could be influenced by motor disability. The Dimensional Apathy Scale (DAS) evaluates apathy excluding confounding effects of motor symptoms. The present study had three major aims: (a) to explore the psychometric properties of the DAS in non-demented PD patients; (b) to determine an optimal cut-off score of the DAS to identify apathetic PD patients; and (c) to determine a specific apathy profile in PD patients as compared to healthy controls (HC). METHODS: One hundred and seven PD patients and 100 HC completed the DAS. To explore convergent and divergent validity of the DAS in PD, patients underwent the Apathy Evaluation Scale and tools for assessing depressive symptoms, anxiety and cognition. Clinical aspects were recorded. Receiver operating characteristic curve analyses were carried out to estimate the optimal cut-off score to identify clinically significant apathy. RESULTS: The DAS scores showed high internal consistency and good evidence for convergent and discriminant validity. Maximum discrimination between apathetic and non-apathetic patients was obtained with a cut-off score of 28.5 (total score range: 0-72 with higher score indicating more severe apathy). Comparison between PD and HC groups revealed significant differences on total DAS, behavioural/cognitive initiation and emotional subscales. CONCLUSIONS: The DAS is a valid and reliable tool to assess multidimensional apathy in PD, independently of severity of motor symptoms. Reduced initiation of thought and behaviour and emotional blunting characterised PD patients, without confounding effects of motor disability.

Edinburgh Cognitive and Behavioural ALS Screen (ECAS)-Italian version: regression based norms and equivalent scores.

Cognitive assessment for individuals with Amyotrophic Lateral Sclerosis (ALS) can be difficult because of frequent occurrence of difficulties with speech, writing, and drawing. The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is a recent multi-domain neuropsychological screening tool specifically devised for this purpose, and it assesses the following domains: executive functions, social cognition, verbal fluency and language (ALS-specific), but also memory and visuospatial abilities (Non-ALS specific). ECAS total score ranges from 0 (worst performance) to 136 (best performance). Moreover, a brief caregiver interview provides an assessment of behaviour changes and psychotic symptoms usually associated with ALS patients. The aim of the present study was to provide normative values for ECAS total score and sub-scores in a sample of Italian healthy subjects. Two hundred and seventy-seven Italian healthy subjects (151 women and 126 men; age range 30-79 years; educational level from primary school to university) underwent ECAS and Montreal Cognitive Assessment (MoCA). Multiple linear regression analysis revealed that age and education significantly influenced performance on ECAS total score and sub-scale scores. From the derived linear equation, a correction grid for raw scores was built. Inferential cut-off scores were estimated using a non-parametric technique and equivalent scores (ES) were computed. Correlation analysis showed a good significant correlation between adjusted ECAS total scores with adjusted MoCA total scores (r rho = 0.669, p < 0.0001). The present study provided normative data for the ECAS in an Italian population useful for both clinical and research purposes.

Assessment of apathy independent of physical disability: validation of the Dimensional Apathy Scale in Italian healthy sample.

Apathy is well described in neurodegenerative diseases characterized by motor disability; therefore, assessment of apathy avoiding possible confounding effects of motor impairments is necessary in neurological diseases. Recently, the Dimensional Apathy Scale (DAS) was developed to assess apathy as multifaceted construct, independent of physical disability. We developed the Italian version of the Dimensional Apathy Scale (I-DAS) and explored its psychometric properties in a sample of 309 healthy individuals. Participants also completed Apathy Evaluation Scale, Beck Depression Inventory-II and Addenbrooke's Cognitive Examination-Revised. The I-DAS showed high internal consistency, good convergent and divergent validity. The I-DAS had a three-factor structure, such as the original scale. The I-DAS scored was significantly correlated with individuals' education, but not with age or gender. We, therefore, computed correction factor for education and provided percentile distribution of the adjusted scores to identify individuals with high levels of apathy. The I-DAS showed good psychometric properties and can be a valid and reliable tool to assess multidimensional apathy.

Meta-Analysis of Personality Traits in Alzheimer's Disease: A Comparison with Healthy Subjects.

BACKGROUND: The role of specific personality traits as factor risks of Alzheimer's disease (AD) has been consistently found, whereas personality traits specifically related to AD (after the diagnosis) have not been outlined yet. OBJECTIVE: A meta-analysis of published studies was performed to determine whether AD patients have a distinctive personality trait profile compared to healthy subjects (HC), similar to or different from a premorbid personality profile consistently reported in previous studies. METHODS: A systematic literature search was performed using PsycInfo (PROQUEST), PubMed, and Scopus. The meta-analysis pooled results from primary studies using Hedges' g unbiased approach. RESULTS: The meta-analysis included 10 primary studies and revealed that, when the personality was evaluated by informant-rated measures, AD patients had significantly higher levels of Neuroticism, lower levels of Openness, Agreeableness, Conscientiousness, and Extraversion than HCs. When the personality was evaluated by self-rated measures, the results obtained from informants were confirmed for Neuroticism, Openness, and Extraversion but not for Agreeableness and Conscientiousness where AD patients and HCs achieved similar scores. CONCLUSIONS: The meta-analysis revealed that high Neuroticism and low Openness and Extraversion are distinctive personality traits significantly associated with a diagnosis of AD when evaluated both self-rated and informant-rated measures. This personality trait profile is similar to premorbid one, which contributes to development of AD over time. Therefore, our findings indirectly support the idea of specific premorbid personality traits as harbingers of AD.

Personality and Parkinson's disease: A meta-analysis.

INTRODUCTION: Personality changes are considered pre-motor features of Parkinson's disease (PD). Cross-sectional studies revealed that PD patients were more introvert, apprehensive, and cautious than healthy subjects (HS), whereas other studies failed to disclose these behavioural traits. Some studies found mixed results concerning Novelty Seeking (NS) and Harm Avoidance (HA) profiles in PD patients. To better clarify the personality profile in PD we performed a meta-analysis on studies exploring such topic according to both Cloninger's Psychobiological Model (PM) and Big Five Model (BFM) METHODS: The meta-analysis included 17 studies evaluating the personality in PD patients compared with HS. The outcomes were the dimensions of the temperament and character of the PM and personality traits of BFM. Effect sizes from data reported in the primary studies were computed using Hedges'g unbiased approach. Heterogeneity among the studies and publication bias were assessed. Meta-regressions were conducted with age at evaluation, gender, schooling, and type of personality trait tools as moderators. RESULTS: As for PM, PD patients scored higher on HA and lower on NS than HS. No difference was found on Reward Dependence, Perseverance/Persistence and on character level. As for BFM, higher levels of Neuroticism, but lower levels of Openness and Extraversion were associated with PD. DISCUSSION: The personality profile in PD is characterized by high Neuroticism and HA, and by low Openness, Extraversion and NS. The personality profile delineated in the present study on PD patients seems to reflect the premorbid one and might contribute to development and persistence of affective disorders.

Personality in Parkinson's disease: Clinical, behavioural and cognitive correlates.

Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward sources ("novelty seeking") and avoidance behaviour ("harm avoidance") present before motor features. The functional correlates underlying the personality changes described in PD, implicate dysfunction of meso-cortico-limbic and striatal circuits. As disease progresses, the imbalance of neurotransmitter systems secondary to degenerative processes, along with dopamine replacement therapy, can produce a reversal of behaviours and an increase in reward seeking, laying the foundations for the emergence of the impulse control disorders. Personality disorders can be interpreted, therefore, as the result of individual susceptibility arising from intrinsic degenerative processes and individual personality features, in combination with extrinsic factors such as lifestyle, PD motor dysfunction and drug treatment. For a better understanding of personality disorders observed in PD and their relationship with the prodromal stage of the disease, prospective clinical studies are needed that correlate different personality profiles with other disease progression markers. Here, we review previous studies investigating the clinical, cognitive and behavioural correlates of personality traits in PD patients.

Impact of anxiety, apathy and reduced functional autonomy on perceived quality of life in Parkinson's disease.

INTRODUCTION: Parkinson's disease (PD) is characterized by a wide spectrum of non-motor symptoms that may impact negatively on the activities of the patient's daily life and reduce Health-related quality of life (HRQoL). The present study explored the impact of specific non-motor symptoms on the HRQoL in PD. METHODS: Eighty-four outpatients underwent the Montreal Cognitive Assessment (MoCA) assessing global functioning and several questionnaires to assess depression, apathy, impulse control disorders (ICD), anxiety, anhedonia and functional impact of cognitive impairment. The perceived QoL was assessed by Parkinson's Disease Questionnaire (PDQ-8). The PD sample was divided into patients with high and low HRQoL around the median of PDQ-8 and compared on clinical features, cognitive and neuropsychiatric variables. A linear regression analysis, in which the global functioning, apathy, depression, anxiety, anhedonia, ICD and the functional autonomy scores were entered as independent variables and PDQ-8 score as dependent variable, was applied. RESULTS: Patients with lower HRQoL were more depressed, apathetic, anxious and showed more severe reduction of functional autonomy and global functioning than patients with high HRQoL. The regression analysis revealed that higher level of anxiety, executive apathy and more reduced functional autonomy were significantly associated with higher score on PDQ-8. CONCLUSIONS: The finding indicated that anxiety, apathy associated with impaired planning, attention and organization (i.e., executive apathy evaluated by the Dimensional Apathy Scale) and reduced functional autonomy contribute significantly to reduce the HRQoL in PD. Therefore, early identification and management of these neuropsychiatric symptoms should be relevant to preserve HRQoL in PD.

Rouleau version of the Clock Drawing Test: age- and education-adjusted normative data from a wide Italian sample.

OBJECTIVE: The Clock Drawing Test (CDT) is widely used as a screening tool for discriminating cognitively normal individuals from patients with mild dementia. The aim of present study was to provide normative values for a 10-point quantitative scoring system proposed by Rouleau and colleagues (1992), including CDT total score and subscales score assessing representation of clock face (RC), layout of numbers (LN), and position of hands (PH), in a large sample of Italian healthy individuals. METHOD: Eight hundred and seventy-two Italian healthy participants (483 women; age range 20-94 years) with educational level from primary school to university underwent CDT and Mini Mental State Examination (MMSE). RESULTS: Multiple linear regression analysis revealed that age and education significantly influenced CDT total score and its subscale scores. Moreover, a significant effect of gender was found only in RC subscale. From the derived linear equation, a correction grid for raw scores was built. Inferential cut-off values were estimated using a non-parametric technique and equivalent scores (ES) were computed. Correlation analysis showed a weakly significant correlation between adjusted CDT total score and adjusted MMSE scores. CONCLUSIONS: The present study provided normative data for the Rouleau and colleagues version of CDT in an Italian sample, useful for clinical and research purposes.