Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone +8 more
wiley +1 more source
Percived ethical misconduct: a survey of Neuropsychology professionals in Mexico
International Journal of Psychological Research, 2016 Objective: To evaluate the frequency of perceived ethical misconduct in the practice of neuropsychology in Mexico. Method: One hundred fourteen psychologists answered a survey which assessed perceptions of ethical misconduct in four areas of ...
Paola Fonseca +7 more
doaj
What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome [PDF]
, 2003 The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules.
Karmiloff-Smith, Annette +1 more
core +3 more sources
Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders
Annals of Neurology, EarlyView.Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall +6 more
wiley +1 more source
Visual Acuity does not Moderate Effect Sizes of Higher-Level Cognitive Tasks. [PDF]
, 2016 Background/study contextDeclining visual capacities in older adults have been posited as a driving force behind adult age differences in higher-order cognitive functions (e.g., the "common cause" hypothesis of Lindenberger & Baltes, 1994, Psychology ...
Allen, Philip A +3 more
core +2 more sources
Turning Slowly Predicts Future Diagnosis of Parkinson's Disease: A Decade‐Long Longitudinal Analysis
Annals of Neurology, EarlyView.Objective Wearable technology allows accurate measurement of turning while walking, with cross‐sectional studies indicating that difficulty turning presents even in preclinical phases of Parkinson's disease. The aim of our study was to quantify rate of change of turning performance in a cohort of older adults, and test whether turning decline can ...
Morad Elshehabi +9 more
wiley +1 more source
A validation study of appropriate phonological verbal fluency stimulus letters for use with Croatian speaking individuals [Fonološka verbalna fluentnost na hrvatskom uzorku: primjena testa, izbor podražaja i norme] [PDF]
, 2011 The aim of this study is to determine the word frequency for all thirty letters of the Croatian alphabet and to collect normative data for the letter fluency task in Croatian speakers.
Folnegović Šmalc, Vera +5 more
core
Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11
Annals of Neurology, EarlyView.Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles +7 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl +10 more
wiley +1 more source
Wykorzystanie technologii wirtualnej rzeczywistości w psychologii klinicznej
Annales Universitatis Paedagogicae Cracoviensis. Studia de Cultura, 2018 This paper will analyse the usage of virtual reality (VR) technology in clinical psychology especially neuropsychology. VR has emerged few years ago as a potentially efficient method of providing general and specialty psychological health.
Łucja Cyranek
doaj +1 more source