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Neuropsychological development

Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
Andrea M Byrne, Tal Schechter, Robyn Westmacott
We report the neuropsychological profile of a 6-year-old girl with Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency disorder associated with thrombocytopenia, eczema, recurrent infections, and malignancy. Wiskott-Aldrich syndrome occurs almost exclusively in males and is extremely rare in females, with no known research focused on cognitive and academic functioning in this population. Our patient was referred due to concerns about her memory and academic functioning. She had a history of progressive thrombocytopenia and hematopoietic stem cell transplantation at age 15 months...
March 2018: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
Nicholas I Bradfield, Kathryn A Ellis, Greg Savage, Paul Maruff, Samantha Burnham, David Darby, Nicola T Lautenschlager, Ralph N Martins, Colin L Masters, Stephanie R Rainey-Smith, Joanne Robertson, Christopher Rowe, Michael Woodward, David Ames
BACKGROUND: Given the long preclinical disease course of Alzheimer disease (AD) pathology, novel treatments may be more efficacious if administered before the emergence of dementia. Thus, accurate prediction of who will develop AD dementia is of key importance in selecting individuals for trials of treatment and may become crucial for future selection of patients for therapy. METHODS: As part of the Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing, 901 individuals who did not have dementia were recruited...
March 20, 2018: Alzheimer Disease and Associated Disorders
Chengwu Yang, Kent E Vrana
Background : Psychometric instruments such as the Repeated Battery for the Assessment of Neuropsychological Status (RBANS) are commonly used under conditions for which they were not developed or validated. They may then generate troublesome data that could conceal potential findings. Methods : Based on a previously published refinement of the RBANS, we reanalyzed the data on 303 patients from two National Institutes of Health (NIH) trails in Parkinson's disease and contrasted the results using the original versus refined scores...
March 20, 2018: Healthcare (Basel, Switzerland)
S Barlati, G Deste, M Gregorelli, A Vita
BACKGROUND: Schizophrenia and autism spectrum disorder (ASD) are currently conceptualized as distinct disorders. However, the relationship between these two disorders has been revisited in recent years due to evidence that they share phenotypic and genotypic expressions. This study aimed to identify ASD traits in patients with schizophrenia, and to define their demographic, psychopathological, cognitive and functional correlates. METHOD: Seventy-five schizophrenia patients (20 females, mean age 42 ± 12) were evaluated with the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R)...
March 20, 2018: Psychological Medicine
Ben Chen, Xiaomei Zhong, Naikeng Mai, Qi Peng, Zhangying Wu, Cong Ouyang, Weiru Zhang, Wanyuan Liang, Yujie Wu, Sha Liu, Lijian Chen, Yuping Ning
Background: Late-life depression patients are at a high risk of developing Alzheimer's disease, and diminished olfactory identification is an indicator in early screening for Alzheimer's disease in the elderly. However, whether diminished olfactory identification is associated with risk of developing Alzheimer's disease in late-life depression patients remains unclear. Methods: One hundred and twenty-five late-life depression patients, 50 Alzheimer's disease patients, and 60 normal controls were continuously recruited...
March 15, 2018: International Journal of Neuropsychopharmacology
Arantzazu Zabala, Monika Salgueiro, Oihane Sáez-Atxukarro, Javier Ballesteros, Guillermo Ruiz-Irastorza, Rafael Segarra
OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease. Its most prevalent manifestation is neuropsychiatric SLE (NP-SLE), which is characterized by increased involvement of the nervous system, with relevant symptoms, such as marked cognitive deficits, which are directly involved in subsequent functional disability. The objective of this study is to identify and compare the profile of cognitive deficits in patients with NP-SLE and patients with non-neuropsychiatric SLE (nonNP-SLE) by means of a systematic review and meta-analysis...
March 19, 2018: Journal of the International Neuropsychological Society: JINS
Jeffrey A Leibowitz, Brandi K Ormerod
A large proportion of Gulf War Veterans suffer from Gulf War Illness (GWI) - a devastating chronic disorder characterized by heterogeneous fatigue, pain and neuropsychological symptoms. In their recent Brain, Behavior and Immunity publication entitled "Curcumin Treatment Leads to Better Cognitive and Mood Function in a Model of Gulf War Illness with Enhanced Neurogenesis, and Alleviation of Inflammation and Mitochondrial Dysfunction in the Hippocampus", Kodali and colleagues (2018) report that the polyphenol curcumin improves cognition and mood in a rat model of GWI, potentially by increasing the expression of antioxidant genes and by reversing the effects of chronic combined acetylcholinesterase inhibitor exposure on neuroinflammation, mitochondrial respiration and hippocampal neurogenesis...
March 13, 2018: Brain, Behavior, and Immunity
J M G van Bergen, X Li, F C Quevenco, A F Gietl, V Treyer, R Meyer, A Buck, P A Kaufmann, R M Nitsch, P C M van Zijl, C Hock, P G Unschuld
The accumulation of β-amyloid plaques is a hallmark of Alzheimer's disease (AD), and recently published data suggest that increased brain iron burden may reflect pathologies that synergistically contribute to the development of cognitive dysfunction. While preclinical disease stages are considered most promising for therapeutic intervention, the link between emerging AD-pathology and earliest clinical symptoms remains largely unclear. In the current study we therefore investigated local correlations between iron and β-amyloid plaques, and their possible association with cognitive performance in healthy older adults...
March 13, 2018: NeuroImage
Sakshi Chopra, Harsimarpreet Kaur, Ravindra M Pandey, Ashima Nehra
Background: Due to the paucity of quick, cognitive screening tools available in India that are independent of cultural and educational influences, a 6-item paper and pencil test, covering areas of memory, executive functioning, attention, and visuospatial ability domains - the Neuropsychological Evaluation Screening Tool (NEST) was developed. Aim and Method: NEST was administered to 84 healthy controls to analyze, revise, and review items. In the second phase, 408 patients, above 16 years of age, with their educational level ranging from being illiterate to having greater than 25 years of education, with various neurological and psychiatric conditions were independently administered NEST, Hindi Mental State Examination (HMSE), and a detailed cognitive evaluation using PGI Memory Scale (PGIMS)...
March 2018: Neurology India
R Sheelakumari, C Kesavadas, V S Lekha, Sunitha Justus, P Sankara Sarma, Ramshekhar Menon
Context: Annually 10-12% of patients with mild cognitive impairment (MCI) are likely to progress to Alzheimer's Disease (AD). The morphometric profile in stable non-converters has not been adequately characterized. Aims: To determine the structural differences between amnestic MCI and early AD using volumetric magnetic resonance imaging (MRI) and its correlation with neuropsychological test performances. Settings and Design: This was a hospital-based case-control study...
March 2018: Neurology India
Iris Gorny, Kristina Krause, Anita Albert, Sabrina Schneider, Leona Möller, Lena Habermehl, Adam Strzelczyk, Felix Rosenow, Anke Hermsen, Susanne Knake, Katja Menzler
Objectives: The German socio-demographic estimation scale was developed by Jahn et al. (1) to quickly predict premorbid global cognitive functioning in patients. So far, it has been validated in healthy adults and has shown a good correlation with the full and verbal IQ of the Wechsler Adult Intelligence Scale (WAIS) in this group. However, there are no data regarding its use as a bedside test in epilepsy patients. Methods: Forty native German speaking adult patients with refractory epilepsy were included...
2018: Frontiers in Neurology
Damiano Terenzi, Raffaella I Rumiati, Mauro Catalan, Lucia Antonutti, Giovanni Furlanis, Paolo Garlasco, Paola Polverino, Claudio Bertolotti, Paolo Manganotti, Marilena Aiello
BACKGROUND: Parkinson's disease (PD) patients who are treated with dopamine replacement therapy are at risk of developing impulse control disorders (ICDs) (such as gambling, binge eating, and others). According to recent evidence, compulsive reward seeking in ICDs may arise from an excessive attribution of incentive salience (or 'wanting') to rewards. OBJECTIVES: In this study, we tested this hypothesis in patients with PD who developed binge eating (BE). METHODS: Patients with BE, patients without BE, and healthy controls performed different experimental tasks assessing food liking and wanting...
March 9, 2018: Parkinsonism & related Disorders
Cristina Caciolo, Paolo Alfieri, Giorgia Piccini, Maria Cristina Digilio, Francesca Romana Lepri, Marco Tartaglia, Deny Menghini, Stefano Vicari
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. METHODS: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D...
March 13, 2018: Molecular Genetics & Genomic Medicine
Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli
Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease...
March 13, 2018: Neurological Sciences
Janette L Vardy, Haryana Mary Dhillon, Gregory R Pond, Corrinne Renton, Stephen J Clarke, Ian F Tannock
Background: Inflammation promotes the development of malignancy, while a variety of systemic markers of inflammation predict for worse cancer outcomes including recurrence and survival. Here, we evaluate the prognostic impact of cytokine concentrations, full blood count (FBC) differential ratios, cognitive function and fatigue on survival in patients with localised colorectal cancer (CRC). Patients and methods: Data are from a prospective longitudinal study comparing cognitive function and fatigue in patients with CRC who did (n=173) and did not (n=116) receive adjuvant/neoadjuvant chemotherapy...
2018: ESMO Open
Akhgar Ghassabian, Paul S Albert, Mady Hornig, Edwina Yeung, Sara Cherkerzian, Risë B Goldstein, Stephen L Buka, Jill M Goldstein, Stephen E Gilman
Gestational inflammation may contribute to brain abnormalities associated with childhood neuropsychiatric disorders. Limited knowledge exists regarding the associations of maternal cytokine levels during pregnancy with offspring neurocognitive development. We assayed the concentrations of five cytokines (interleukin (IL)-6, IL-1β, IL-8, tumor necrosis factor alpha (TNF-α), and IL-10) up to four times in the 2nd and 3rd trimesters of pregnancy using stored prenatal sera from 1366 participants in the New England Family Study (enrollment 1959-1966)...
March 13, 2018: Translational Psychiatry
Louis Sass, Juan P Borda, Luis Madeira, Elizabeth Pienkos, Barnaby Nelson
The self-disorder model offers a unifying way of conceptualizing schizophrenia's highly diverse symptoms (positive, negative, disorganized), of capturing their distinctive bizarreness, and of conceiving their longitudinal development. These symptoms are viewed as differing manifestations of an underlying disorder of ipseity or core-self: hyper-reflexivity/diminished-self-presence with accompanying disturbances of "grip" or "hold" on reality. Recent revision to this phenomenological theory, in particular distinguishing primary-vs-secondary factors, offers a bio-pheno-social model that is consistent with recent empirical findings and offers several advantages: (1) It helps account for the temporal variations of the symptoms or syndrome, including longitudinal progression, but also the shorter-term, situationally reactive, and sometimes defensive or quasi-intentional variability of symptom-expression that can occur in schizophrenia (consistent with understanding some aspects of ipseity-disturbance as dynamic and mutable, involving shifting attitudes or experiential orientations)...
February 5, 2018: Schizophrenia Bulletin
Nerisa Banaj, Federica Piras, Fabrizio Piras, Valentina Ciullo, Mariangela Iorio, Claudia Battaglia, Donatella Pantoli, Giuseppe Ducci, Gianfranco Spalletta
The brain structural correlates of cognitive and psychopathological symptoms within the active phase in severely psychotic schizophrenic inpatients have been rarely investigated. Twenty-eight inpatients with a DSM-5 diagnosis of Schizophrenia (SZ), admitted for acute psychotic decompensation, were assessed through a comprehensive neuropsychological and psychopathological battery. All patients underwent a high-resolution T1-weighted magnetic resonance imaging investigation. Increased psychotic severity was related to reduced grey matter volumes in the medial portion of the right superior frontal cortex, the superior orbitofrontal cortex bilaterally and to white matter volume reduction in the medial portion of the left superior frontal area...
June 2018: Schizophrenia Research. Cognition
Nuria Mendoza Laiz, Sagrario Del Valle Díaz, Natalia Rioja Collado, Javier Gomez-Pilar, Roberto Hornero
BACKGROUND: Dementia is a disease that is constantly evolving in older people. Its diverse symptoms appear with varying degrees of severity affecting the daily life of those who suffer from it. The rate in which dementia progresses depends on different aspects of the treatment, chosen to try to control and slow down the development of the illness. OBJECTIVE: The aim of this study is to assess the effectiveness of cognitive training through a Brain Computer Interface (BCI) and the NeuronUp platform in two age groups whose MMSE is between 18-23 MCI (mild dementia)...
2018: Restorative Neurology and Neuroscience
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