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1.
J Neuropsychiatry Clin Neurosci ; 35(3): 228-235, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36999250

RESUMEN

OBJECTIVE: Personality changes have often been reported among people with Parkinson's disease (PD); however, no studies have investigated the associations between personality traits, cognitive function, and specific motor symptoms. In this study, the investigators assessed whether particular personality traits were associated with specific motor subtypes of PD (e.g., tremor-dominant and akinetic-rigid phenotypes) and whether frontal-executive functions were associated with personality traits among patients with a specific motor phenotype. METHODS: Forty-one people with PD and 40 healthy control participants were enrolled in the study. All participants underwent assessments of cognitive and psychological function and personality traits. The study was conducted in Italy. RESULTS: Tremor-dominant symptoms occurred among 20 (48.8%) people with PD, whereas 21 (51.2%) patients exhibited akinetic-rigid symptoms. Multivariate analyses of variance revealed that participants with akinetic-rigid PD demonstrated significantly poorer performance on frontal-executive tests compared with those with tremor-dominant PD. Moreover, those with akinetic-rigid PD exhibited more psychopathological symptoms and higher neuroticism and introversion compared with those with tremor-dominant PD. Correlations revealed that among participants with akinetic-rigid PD, psychopathological symptoms and neuroticism and introversion personality traits were associated with frontal-executive dysfunction, whereas among those with tremor-dominant PD, no significant associations were found between personality traits and cognitive abilities. CONCLUSIONS: These findings suggest that specific personality and frontal-executive profiles are associated with the akinetic-rigid motor subtype of PD, thus helping to refine the different clinical manifestations of PD. A better understanding of the psychological, personality, and cognitive mechanisms in PD could also help to develop more targeted treatments.


Asunto(s)
Disfunción Cognitiva , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Temblor/etiología , Neuroticismo , Introversión Psicológica , Disfunción Cognitiva/complicaciones
2.
Int Psychogeriatr ; 35(11): 623-632, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36714990

RESUMEN

OBJECTIVES: Neuropsychiatric symptoms are common in subjects with MCI and associated with higher risk of progression to AD. The cognitive and neuroanatomical correlates of neuropsychiatric symptoms in MCI have not been fully elucidated. In this study, we sought to evaluate the association between neuropsychiatric symptoms, cognitive function, regional tau deposition, and brain volumes in MCI subjects. METHODS: A total of 233 MCI and 305 healthy comparisons were selected from the ADNI-3 cohort. All the subjects underwent a comprehensive neuropsychological assessment, volumetric MR brain scan, and Flortaucipir PET for in vivo assessment of regional tau deposition. Prevalence of neuropsychiatric symptoms was evaluated by means of the NPI questionnaire. Multivariate analyses of variance were used to detect differences in cognitive and imaging markers in MCI subjects with and without neuropsychiatric symptoms. RESULTS: 61.4% MCI subjects showed at least one neuropsychiatric symptom, with the most prevalent ones being depression (26.1%), irritability (23.6%), and sleep disturbances (23.6%). There was a significant effect of neuropsychiatric symptoms on cognitive tests of frontal and executive functions. MCI subjects with neuropsychiatric symptoms showed reduced brain volumes in the orbitofrontal and posterior cingulate cortices, while no effects were detected on regional tau deposition. Posterior cingulate cortex volume was the only predictor of global neuropsychiatric burden in this MCI population. CONCLUSIONS: Neuropsychiatric symptoms occur early in the AD trajectory and are mainly related to defects of control executive abilities and to the reduction of gray matter volume in the orbitofrontal and posterior cingulate cortices. A better understanding of the cognitive and neuroanatomical mechanisms of neuropsychiatric symptoms in MCI could help develop more targeted and efficacious treatment alternatives.


Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Trastornos del Sueño-Vigilia , Humanos , Enfermedad de Alzheimer/psicología , Disfunción Cognitiva/diagnóstico , Función Ejecutiva , Trastornos del Sueño-Vigilia/complicaciones , Pruebas Neuropsicológicas
3.
Support Care Cancer ; 30(8): 7021-7030, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35585203

RESUMEN

PURPOSE: The current cross-sectional study had three objectives: (1) to assess the prevalence of depression and demoralization in a sample of prostate cancer (PCa) patients; (2) to examine whether masculine self-esteem and depression were associated with demoralization; and (3) to evaluate the role of resilience as a factor buffering the effects of masculine self-esteem and depression on demoralization. METHODS: 197 PCa patients aged 48 to 79 years (M = 67.19; SD = 6.83) answered questions about masculine self-esteem, depression, resilience, and demoralization. An ANOVA was conducted to examine whether the association between demoralization and depressive symptoms was linear. A chi-square test was calculated to determine differences between depression and demoralization. Finally, a hierarchical multiple linear regression analysis with interaction terms was conducted to examine the associations between masculine self-esteem, depression, resilience, and demoralization. RESULTS: Depression scores increased linearly with demoralization severity, but demoralization scores were higher than depression scores (21.3% vs. 15.2%). Lower scores on masculine self-esteem and higher scores on depressive symptoms were associated with greater demoralization. Resilience significantly moderated the association between masculine self-esteem and demoralization, but not between depression and demoralization. CONCLUSION: Assessment of depression, masculine self-esteem, resilience, and demoralization in the clinical setting is critical for improving the mental health status of PCa patients.


Asunto(s)
Desmoralización , Neoplasias de la Próstata , Estudios Transversales , Depresión/epidemiología , Depresión/etiología , Depresión/psicología , Humanos , Masculino , Neoplasias de la Próstata/psicología , Autoimagen
4.
Neurol Sci ; 43(9): 5403-5410, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35751711

RESUMEN

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with progressive loss of upper and lower motor neurons. Non-motor-symptoms, such as cognitive, emotional, autonomic, and somatosensory alterations, have been also described. Interoception represents the link between the body and brain, since it refers to the ability to consciously perceive the physical condition of the inner body, including one's heartbeat (i.e., interoceptive sensitivity, IS). OBJECTIVES: To evaluate IS in ALS patients by means of a well-established task: the heartbeat perception task. Moreover, we evaluated possible correlations between IS and neuropsychological, affective, and disease-related characteristics. METHODS: Fifty-five ALS patients (mean-age = 60.3 ± 12.5 years; mean disease-duration = 20.9 ± 18.8 months) and 41 caregivers (CG) underwent the heartbeat perception task and an extensive evaluation of motor, cognitive, body awareness, affective, and emotion domains. RESULTS: ALS patients showed lower IS than CG (0.68 ± 0.24 vs 0.82 ± 0.16; p = 0.003). Significant correlations were found between IS and self-reported measures of alexithymia (subscale of Toronto Alexithymia scale-20 "difficulties in describing feelings"; rho = - .391, p = .003) and interoceptive awareness (subscale of Multidimensional assessment of interoceptive awareness "not worrying about pain"; rho = .405, p = .002). No significant differences were found on questionnaires for depression and anxiety between patients with ALS and their caregivers (p > .05). CONCLUSIONS: ALS patients show reduced interoceptive sensitivity that is associated with poorer ability to describe feelings and with lower focalization on pain, regardless of cognitive and motor impairment. Alteration of interoception may represent a specific behavioural sign within the spectrum of emotion processing deficits described in ALS patients.


Asunto(s)
Esclerosis Amiotrófica Lateral , Interocepción , Anciano , Esclerosis Amiotrófica Lateral/complicaciones , Concienciación/fisiología , Emociones/fisiología , Frecuencia Cardíaca/fisiología , Humanos , Interocepción/fisiología , Persona de Mediana Edad , Dolor
5.
Cogn Behav Neurol ; 35(4): 247-254, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36149396

RESUMEN

BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small-vessel disease that is characterized by a wide range of neurologic and neuropsychological impairments. Constructional impairments have been reported in some cases but have never been assessed systematically. OBJECTIVE: To evaluate constructional abilities and their cognitive and neural correlates in nondemented individuals with CADASIL. METHOD: Thirty individuals with CADASIL who were not affected by clinically relevant cognitive deterioration and 30 healthy controls (HC) underwent an extensive cognitive assessment and paper-and-pencil visuoconstructional tasks in order to detect constructional impairments. Performance on the visuoconstructional tasks was correlated with the cognitive assessment scores and with quantitative indices of regional gray matter atrophy (obtained via FreeSurfer image analysis) and white matter involvement. RESULTS: The individuals with CADASIL achieved significantly lower scores on the cognitive assessment compared with the HC. Poor visuoconstructional abilities were observed in seven (23.3%) of the individuals with CADASIL when performing the copy drawing task and in nine (30%) when performing the Rey Complex Figure Test. Logistic regression revealed that visuoconstructional impairments were significantly associated with scores on the Frontal Assessment Battery and the Attentional Matrices Test. Morphometric results revealed that scores on the visuoconstructional tasks were related to gray matter atrophy of the left frontal lobe and right parietal lobe. CONCLUSION: Impairments on visuoconstructional tasks are quite common in individuals with CADASIL, even in the lack of clinically relevant cognitive deterioration, and are critically related to frontal and parietal atrophy.


Asunto(s)
CADASIL , Leucoencefalopatías , Adulto , Humanos , CADASIL/diagnóstico por imagen , CADASIL/patología , Infarto Cerebral , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/patología , Lóbulo Frontal , Atrofia/patología , Imagen por Resonancia Magnética
6.
Neurol Sci ; 41(12): 3633-3641, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32462388

RESUMEN

OBJECTIVE: Timed neuropsychological tests do not take into account physical impairment during scoring procedures. Dysarthria and upper limb impairment can be easily measured with the PATA rate test (PRT) and the nine-hole pegboard test (9HPT). We recently validated a normalization method for timed neuropsychological tests using the PRT and 9HPT (p9NORM). We now validate the p9NORM in Parkinson's disease (Yarnall et al. Neurology 82(4):308-316; 2014) and multiple system atrophy (MSA). METHODS: We enrolled twenty-six patients with PD, eighteen patients with MSA, and fifteen healthy controls (HC). p9NORM was applied to patients with abnormal PRT and/or 9HPT. All subjects were tested with a comprehensive neuropsychological battery. RESULTS: No differences emerged in demographics across groups: (PD: mean age ± SD 66 ± 8; education 9 ± 4 years; MSA: age 60 ± 8; education 10 ± 4 years; HC: age 61 ± 12; education 9 ± 4 years). In MSA patients, the scores on the trail making test (TMT-A p = 0.003; TMT-B p = 0.018), attentional matrices (AM; p = 0.042), and symbol digit modalities test (SDMT p = 0.027) significantly differed following application of p9NORM. In PD patients, the TMT-A (p < 0.001), TMT-B (p = 0.001), and AM (p = 0.001) differed after correction. PD and MSA showed cognitive impairment relative to HC performance. When comparing MSA with PD, the SDMT, AM, and fluencies were similar. TMT-A and -B raw scores were different between groups (p = 0.006; p = 0.034), but these differences lost significance after p9NORM corrections (p = 0.100; p = 0.186). CONCLUSIONS: We confirm that the p9NORM can be successfully used in both PD and MSA patients, as it mitigates the impact of disability on timed tests, resulting in a more accurate analysis of cognitive domains.


Asunto(s)
Disfunción Cognitiva , Atrofia de Múltiples Sistemas , Enfermedad de Parkinson , Anciano , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Humanos , Persona de Mediana Edad , Atrofia de Múltiples Sistemas/complicaciones , Atrofia de Múltiples Sistemas/diagnóstico , Pruebas Neuropsicológicas , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Prueba de Secuencia Alfanumérica
7.
J Int Neuropsychol Soc ; 24(5): 437-444, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29198249

RESUMEN

OBJECTIVES: Alzheimer's disease (AD) patients may show the Closing-in (CI), a tendency to reproduce figures close to or superimposed on the model. AD patients with CI might manifest reduced functional independence compared to AD patients without CI, but no study directly assessed if CI can hamper common daily living activities. To address this issue here we investigated whether AD patients with CI veer their walking trajectory toward irrelevant objects more often than AD patients without CI. METHODS: Fifty AD individuals, and 20 age- and education-matched healthy adults, underwent a graphic copying task to detect CI and a newly developed walking task to assess the tendency to veer toward irrelevant objects and to bump into them. All participants also completed a comprehensive neuropsychological battery to assess dementia severity; impairments in frontal/executive, visuo-spatial, visuo-constructional, and memory domains; and functional independence in daily living activities. RESULTS: Graphic CI occurred in 34/50 (68%) AD patients (AD-CI group) who achieved significantly lower scores on frontal/executive abilities, and daily living functioning than AD individuals not showing CI. Most AD-CI patients (20/34; 58.8%) also showed at least one veering error in the walking task. Participants with CI and veering errors showed significantly poorer performance on Stroop test, and lower level of functional independence than AD individuals with CI in isolation. CONCLUSIONS: CI on graphic tasks can identify difficulties in walking and in complying with everyday activities in AD patients. These observations demonstrate the value of assessing CI in copying tasks. (JINS, 2018, 24, 437-444).


Asunto(s)
Enfermedad de Alzheimer/fisiopatología , Caminata , Actividades Cotidianas , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Pruebas de Estado Mental y Demencia , Persona de Mediana Edad , Pruebas Neuropsicológicas , Test de Stroop
8.
J Geriatr Psychiatry Neurol ; 31(3): 149-157, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29764282

RESUMEN

Animal-assisted therapy (AAT) includes a set of nonpharmacological interventions aimed at improving human health through the use of trained or untrained animals. In recent decades, AAT has been trialed for different neurological and psychiatric disorders. In patients with dementia, interaction with animals seems to have a positive influence on aggressiveness and anxiety and to ameliorate quality of life and relationship skills. In psychiatric patients, AAT seems to increase motivation and self-esteem, improve prosocial conduct, and decrease behavioral problems. The aim of this study is to review the literature on AAT for elderly people with dementia and psychiatric disorders. Other fields of possible application for AAT are suggested.


Asunto(s)
Terapia Asistida por Animales , Demencia/terapia , Calidad de Vida , Esquizofrenia/terapia , Anciano , Animales , Trastornos de Ansiedad/psicología , Trastornos de Ansiedad/terapia , Demencia/psicología , Humanos , Masculino , Psicología del Esquizofrénico
9.
Exp Brain Res ; 234(10): 2935-43, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27324085

RESUMEN

Motor simulation implies that the same motor representations involved in action execution are re-enacted during observation or imagery of actions. Neurofunctional data suggested that observation of letters or abstract paintings can elicit simulation of writing or drawing gestures. We performed four behavioural experiments on right-handed healthy participants to test whether observation of a static and complex geometrical figure implies re-enactment of drawing actions. In Experiment 1, participants had to observe the stimulus without explicit instruction (observation-only condition), while performing irrelevant finger tapping (motor dual task), or while articulating irrelevant verbal material (verbal dual task). Delayed drawing of the stimulus was less accurate in the motor dual-task (interfering with simulation of hand actions) than in verbal dual-task and observation-only conditions. In Experiment 2, delayed drawing in the observation only was as accurate as when participants encoded the stimulus by copying it; in both conditions, accuracy was higher than when participants were instructed to observe the stimulus to recall it later verbally (observe to recall), thus being discouraged from engaging motor simulation. In Experiment 3, delayed drawing was as accurate in the observation-only condition as when participants imagined copying the stimulus; accuracy in both conditions was higher than in the observe-to-recall condition. In Experiment 4, in the observe-only condition participants who observed the stimulus with their right arm hidden behind their back were significantly less accurate than participants who had their left arm hidden. These findings converge in suggesting that mere observation of a geometrical stimulus can activate motor simulation and re-enactment of drawing actions.


Asunto(s)
Imaginación , Recuerdo Mental/fisiología , Movimiento/fisiología , Desempeño Psicomotor/fisiología , Adulto , Análisis de Varianza , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Observación , Estimulación Luminosa , Tiempo de Reacción , Adulto Joven
10.
J Int Neuropsychol Soc ; 21(1): 1-7, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25399546

RESUMEN

Environmental dependency (ED) phenomena, including utilization behavior and imitation behavior, are clinical manifestations typically observed in patients with the behavioral variant of fronto-temporal dementia (bvFTD), who may also show the closing-in (CI) phenomenon. Here, we explored the neuropsychological correlates of ED and CI in bvFTD, and the association of ED with CI to clarify the mechanisms underlying these clinical manifestations. Thirty-one bvFTD patients underwent a wide cognitive assessment in addition to special tasks to detect occurrence of CI and ED phenomena. Both ED and CI phenomena were present in more than half of the sample. Logistic regression analyses revealed that both ED and CI phenomena were significantly associated with poor scores on frontal neuropsychological tests. Although ED and CI often co-occurred, 3/12 patients with CI did not show ED, and 5/18 patients with ED did not show CI. A logistic regression model showed that the presence of ED was not significantly associated to CI. CI and ED are associated to progressive derangement of frontal functions in bvFTD. However, specific frontal dysfunctions might explain the occurrence of either phenomenon in isolation.


Asunto(s)
Trastornos del Conocimiento/etiología , Demencia Frontotemporal/complicaciones , Demencia Frontotemporal/psicología , Trastornos de la Percepción/etiología , Medio Social , Percepción Espacial/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Distribución de Chi-Cuadrado , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Conducta Imitativa/fisiología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Destreza Motora/fisiología , Pruebas Neuropsicológicas , Escalas de Valoración Psiquiátrica
12.
Cogn Neuropsychol ; 31(4): 350-66, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24593311

RESUMEN

Mirror writing is a striking behaviour that is common in children and can reemerge in adults following brain damage. Skilled deliberate mirror writing has also been reported, but only anecdotally. We provide the first quantitative study of skilled deliberate mirror writing. K.B. can write forward or backward, vertically upright or inverted, with the hands acting alone or simultaneously. K.B. is predominantly left handed, but writes habitually with his right hand. Of his writing formats, his left hand mirror writing is by far the most similar in style to his normal handwriting. When writing bimanually, he performs better when his two hands make mirror-symmetrical movements to write opposite scripts than if they move in the same direction to write similar scripts. He has no special facility for reading mirrored text. These features are consistent with prior anecdotal cases and support a motor basis for K.B.'s ability, according to which his skilled mirror writing results from the left hand execution of a low-level motor program for a right hand abductive writing action. Our methods offer a novel framework for investigating the sharing of motor representations across effectors.


Asunto(s)
Lateralidad Funcional , Escritura Manual , Adolescente , Adulto , Femenino , Lateralidad Funcional/fisiología , Humanos , Masculino , Lectura
13.
Front Endocrinol (Lausanne) ; 15: 1389014, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38686200

RESUMEN

Introduction: The adipokines leptin and adiponectin have been associated with atherosclerosis and the risk of cerebral infarcts. Pre-clinical studies, however, suggest a protective role against ischemic brain damage. In this study we analyzed the relationship between serum leptin and adiponectin levels and the onset or progression of brain infarcts in subjects with mild cognitive impairment (MCI) and Alzheimer's disease (AD). Methods: All data were extracted from the ADNI database. The final population included 566 subjects, with 58 healthy controls, 396 MCI and 112 AD. All patients with available serum leptin and adiponectin levels at baseline were selected. Demographics, neuropsychological test results, CSF biomarkers, regional brain metabolism with FDG-PET data and the number of brain infarcts on longitudinal MRI scans were extracted. Results: Leptin levels were significantly lower in patients with MCI than controls at baseline, while adiponectin levels were not different between the groups. Multivariate logistic regression analysis at baseline for the presence of brain infarcts showed a predictive value for leptin but not for adiponectin. Multivariate longitudinal analysis showed that age was the only significant predictor of brain infarcts development at 15-year follow-up, while serum leptin and adiponectin levels did not play a role in this population. Discussion: The evidence on the pathogenetic or protective role of adipokines on ischemic brain damage is mixed. In this MCI and AD population, serum leptin and adiponectin were not associated with the development of brain infarcts; therefore, these results do not support the use of adipokines as biomarkers of cerebrovascular pathology in this population.


Asunto(s)
Adiponectina , Enfermedad de Alzheimer , Biomarcadores , Infarto Encefálico , Disfunción Cognitiva , Leptina , Humanos , Adiponectina/sangre , Enfermedad de Alzheimer/sangre , Disfunción Cognitiva/sangre , Disfunción Cognitiva/etiología , Masculino , Leptina/sangre , Femenino , Anciano , Estudios Longitudinales , Biomarcadores/sangre , Infarto Encefálico/sangre , Infarto Encefálico/diagnóstico por imagen , Infarto Encefálico/complicaciones , Anciano de 80 o más Años , Imagen por Resonancia Magnética , Estudios de Casos y Controles , Persona de Mediana Edad
14.
J Int Neuropsychol Soc ; 19(7): 802-8, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23701672

RESUMEN

Closing-in (CI) refers to copying drawings near to or superimposed on the original model, and is often observed in Alzheimer's disease (AD) patients. Contrasting hypotheses have been suggested to explain CI, but no prospective study has directly verified these interpretations. We evaluated the role of frontal/executive versus visuo-spatial impairments in a prospective sample of AD patients, and also explored whether different types of CI are related to specific neuropsychological tasks. We enrolled 64 AD patients who underwent copying tasks and an extensive neuropsychological assessment of visuo-spatial and visuo-constructional skills, frontal/executive abilities and anterograde memory. AD patients with CI showed more severe impairment on frontal/executive functions than AD patients without CI. Moreover, the tendency to produce copies superimposed on the model was selectively associated with poor inhibitory control for irrelevant responses. On this basis, we suggest that different CI phenomena could be ascribed to distinctive frontal/executive defects.


Asunto(s)
Enfermedad de Alzheimer/fisiopatología , Función Ejecutiva/fisiología , Lóbulo Frontal/fisiopatología , Desempeño Psicomotor/fisiología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Inhibición Psicológica , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Estudios Prospectivos , Percepción Espacial/fisiología
15.
Blood Rev ; 62: 101118, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37544828

RESUMEN

In clinical medicine, shared decision making (SDM) is a well-recognized strategy to enhance engagement of both patients and clinicians in medical decisions. The success of liver-directed gene therapy (GT) to transform severe congenital haemophilia A (HA) from an incurable to a curable disease has launched a shift beyond current standards of treatment. However, GT acceptance remains low in the community of HA persons. We argue for both persons with haemophilia (PWH) and specialists in HA care including clinicians, as needing SDM-oriented educational programs devoted to GT. Here, we provide an ad hoc outline to implement education to SDM and tailor clinician information on GT to individual PWHs. Based on routine key components of SDM: patient priorities; recommendations based on individual risk reduction; adverse effects; drug-drug interactions; alternatives to GT; and ongoing re-assessment of the objectives as risk factors (and individual priorities) change, this approach is finalized to exploit efficacious communication.


Asunto(s)
Toma de Decisiones Conjunta , Hemofilia A , Humanos , Hemofilia A/genética , Hemofilia A/terapia , Toma de Decisiones , Objetivos , Terapia Genética , Hígado
16.
Acta Neurol Belg ; 123(1): 221-226, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36609835

RESUMEN

BACKGROUND: Mutations of the Glucocerebrosidase (GBA) gene are the most common genetic risk factor yet discovered for Parkinson's Disease (PD), being found in about 5-14% of Caucasian patients. OBJECTIVE: We aimed to assess motor and non-motor symptoms (NMS) in patients with GBA-related PD (GBA-PD) in comparison with idiopathic PD (iPD) subjects using standardized and validated scales. METHODS: Eleven (4 M, 7 F) patients with GBA-PD and 22 iPD patients, selected from the same cohort and matched for gender, age, and disease duration, were enrolled. The disease severity was assessed by Unified Parkinson's Disease Rating Scale-section III, gait disorder and falls by Freezing of Gait Questionnaire, and motor fluctuations by Wearing off questionnaire. NMS were evaluated using the following scales: Mini-Mental State Examination and extended neuropsychological battery, if required, Non-Motor Symptoms Scale, SCOPA-AUT Questionnaire, Apathy Evaluation Scale, Beck Depression Inventory, Epworth Sleepiness Scale, Restless Legs Syndrome Rating Scale, REM Sleep Behavior Disorder Screening Questionnaire, and Questionnaire for Impulsive-Compulsive Disorders in Parkinson's disease. RESULTS: GBA-PD patients showed a more severe and rapidly progressive disease, and more frequent positive family history for PD, akinetic-rigid phenotype, postural instability, dementia, and psychosis in comparison to iPD. Two of three subjects carrying L444P mutation presented with early dementia. We also found a higher occurrence of fatigue, diurnal sleepiness, and intolerance to heat/cold in the carriers group. CONCLUSIONS: Our results confirm that NMS and a more severe and faster disease course more frequently occur among GBA-PD patients in comparison to iPD.


Asunto(s)
Glucosilceramidasa , Enfermedad de Parkinson , Humanos , Demencia , Trastornos Neurológicos de la Marcha/genética , Glucosilceramidasa/genética , Mutación , Enfermedad de Parkinson/genética , Somnolencia
17.
Front Psychol ; 14: 1112287, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36968705

RESUMEN

Background: Personality's investigation has always been characterized as a central area of research for psychology, such that it was established in the 1920s as an autonomous scientific-disciplinary field. Identifying and observing the people's typical ways of "being in the world" has made possible to define the predictability of a pattern of behavioral responses related both to the possession of distinct characteristics of the agent subject and to specific environmental situations. In the actual scientific landscape, there is a strand of research that makes a description of personality through methodologies and indicators not usually used by psychology, but scientifically validated through standardized procedures. Such studies seem to be significantly increasing and reflect the emerging need to have to consider the human being in his or her complexity, whose existential and personal dimensions can no longer be traced to classification systems that are divorced from the epochal reference. Objective: In this review, attention is focused on highlighting publications in the literature that have included the use of unconventional methods in the study of nonpathological personality, based on the Big Five theoretical reference model. To better understand human nature, an alternative based on evolutionary and interpersonal theory is presented. Design: Online databases were used to identify papers published 2011-2022, from which we selected 18 publications from different resources, selected according to criteria established in advance and described in the text. A flow chart and a summary table of the articles consulted have been created. Results: The selected studies were grouped according to the particular method of investigation or description of personality used. Four broad thematic categories were identified: bodily and behavioral element; semantic analysis of the self-descriptions provided; integrated-type theoretical background; and use of machine learning methods. All articles refer to trait theory as the prevailing epistemological background. Conclusion: This review is presented as an initial attempt to survey the production in the literature with respect to the topic and its main purpose was to highlight how the use of observational models based on aspects previously considered as scientifically uninformative (body, linguistic expression, environment) with respect to personality analysis proves to be a valuable resource for drawing up more complete personality profiles that are able to capture more of the complexity of the person. What has emerged is a rapidly expanding field of study.

18.
J Neurol ; 270(11): 5408-5417, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37462754

RESUMEN

BACKGROUND: Progressive cognitive decline is an inevitable feature of Huntington's disease (HD) but specific criteria and instruments are still insufficiently developed to reliably classify patients into categories of cognitive severity and to monitor the progression of cognitive impairment. METHODS: We collected data from a cohort of 180 positive gene-carriers: 33 with premanifest HD and 147 with manifest HD. Using a specifically developed gold-standard for cognitive status we classified participants into those with normal cognition, those with mild cognitive impairment, and those with dementia. We administered the Parkinson's Disease-Cognitive Rating Scale (PD-CRS), the MMSE and the UHDRS cogscore at baseline, and at 6-month and 12-month follow-up visits. Cutoff scores discriminating between the three cognitive categories were calculated for each instrument. For each cognitive group and instrument we addressed cognitive progression, sensitivity to change, and the minimally clinical important difference corresponding to conversion from one category to another. RESULTS: The PD-CRS cutoff scores for MCI and dementia showed excellent sensitivity and specificity ratios that were not achieved with the other instruments. Throughout follow-up, in all cognitive groups, PD-CRS captured the rate of conversion from one cognitive category to another and also the different patterns in terms of cognitive trajectories. CONCLUSION: The PD-CRS is a valid and reliable instrument to capture MCI and dementia syndromes in HD. It captures the different trajectories of cognitive progression as a function of cognitive status and shows sensitivity to change in MCI and dementia.


Asunto(s)
Disfunción Cognitiva , Enfermedad de Huntington , Enfermedad de Parkinson , Humanos , Enfermedad de Huntington/complicaciones , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/genética , Pruebas Neuropsicológicas , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Disfunción Cognitiva/psicología , Cognición , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico
20.
Riv Psichiatr ; 57(6): 291-298, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36503943

RESUMEN

BACKGROUND: Personality traits are patterns of thoughts, feelings and actions that are usually assessed by means of psychometric questionnaires. In the present study we described the Phenomenological Personality Factor (PPF), a short questionnaire assessing the personality traits, taking into account the different interpretative models of personality. METHODS: A sample of 554 healthy subjects (357 female; 197 males) aged 18-60 years were enrolled. Each participant was required to complete PPF, by indicating the presence/absence of the individual personality trait, and the Italian version of the Affective Neuroscience Personality Scale (ANPS). RESULTS: The principal component analysis showed that seven factors explained the 35.07% of the total variance. Moreover, the correlation analysis revealed that the PPF components were significantly and positively associated with the ANPS scales. CONCLUSIONS: Our findings suggest that the PPF is a useful questionnaire to assess the personality traits, and the adaptive functioning, in healthy individuals.


Asunto(s)
Trastornos de la Personalidad , Personalidad , Masculino , Humanos , Femenino , Psicometría , Emociones , Análisis de Componente Principal
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