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1.
Clin Neuropsychol ; : 1-24, 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38627918

ABSTRACT

Objective: Digital provision of cognitive tests like the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) has the potential to significantly increase access to important assessments. However, limited empirical evidence exists for the equivalence of telehealth and face-to-face administration. Presently test publishers recommend not administering subtests with stimulus materials that require manipulation via telehealth. Therefore, this study evaluated the equivalence of a telehealth administration procedure of the WAIS-IV with face-to-face administration. Method: A randomized repeated measures design included a sample of N = 28 participants with typical cognitive functioning, predominantly female (61%), aged 21 years (SD = 3.65), and identified as Australian (79%). Results: Our analysis showed that the point estimates of mean differences for indices and subtests (except PSI and Symbol Search) between face-to-face and telehealth applications were smaller than the smallest effect size of interest (SESOI). Analysis of 90% CIs around the mean difference showed the PRI Index and subtests Vocabulary, Information, and Arithmetic were statistically equivalent, while FSIQ, VCI, FRI, WMI indices, and other seven subtests were not statistically equivalent. For Null Hypothesis Significance Tests, the indices and all subtests were not significantly different from zero. Conclusions: These findings show a telehealth administration of the WAIS-IV provides scores similar to those collected in face-to-face administration, and observed differences were smaller than the difference expected due to measurement error. However, psychologists are cautioned not to solely rely on test scores when formulating outcomes but use clinical judgement with awareness of potential (albeit small) errors introduced by telehealth testing.


This article evaluates whether the Wechsler Adult Intelligence Scale, Fourth Edition, administered in an online format produces equivalent results to the traditional face-to-face administration of the test. The findings provided evidence of equivalence since differences between these administration methods (i.e. face-to-face vs. online format) were not meaningful. Guidelines are provided regarding how psychologists can use the test in a telehealth context, to continue cognitive evaluations for individuals with limited access to face-to-face health services.

2.
Soa Chongsonyon Chongsin Uihak ; 34(4): 275-282, 2023 Oct 01.
Article in English | MEDLINE | ID: mdl-37841480

ABSTRACT

Objectives: This study aimed to identify the psychiatric comorbidity status of adult patients diagnosed with attention-deficit hyperactivity disorder (ADHD) and determine the impact of comorbidities on neuropsychological outcomes in ADHD. Methods: The study participants were 124 adult patients with ADHD. Clinical psychiatric assessments were performed by two boardcertified psychiatrists in accordance with the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. All participants were assessed using the Mini-International Neuropsychiatric Interview Plus version 5.0.0 to evaluate comorbidities. After screening, neuropsychological outcomes were assessed using the Comprehensive Attention Test (CAT) and the Korean version of the Wechsler Adult Intelligence Scale, Fourth Edition (K-WAIS-IV). Results: Mood disorders (38.7%) were the most common comorbidity of ADHD, followed by anxiety (18.5%) and substance use disorders (13.7%). The ADHD with comorbidities group showed worse results on the Perceptual Organization Index and Working Memory Index sections of the K-WAIS than the ADHD-alone group (p=0.015 and p=0.024, respectively). In addition, the presence of comorbidities was associated with worse performance on simple visual commission errors in the CAT tests (p=0.024). Conclusion: These findings suggest that psychiatric comorbidities are associated with poor neuropsychological outcomes in adult patients with ADHD, highlighting the need to identify comorbidities in these patients.

3.
Mult Scler Relat Disord ; 70: 104492, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36587484

ABSTRACT

BACKGROUND: Cognitive impairment is common in people living with neuromyelitis optica spectrum disease (NMOSD) and multiple sclerosis (MS). However, there is little published data on intelligence quotient (IQ) in NMOSD patients. Therefore, we performed the present study to compare IQ scores across NMOSD, MS, and control groups. METHOD: In this cross-sectional study, 49 NMOSD (30 with positive aquaporin4 antibody), 41 MS, and 20 control individuals were recruited. The IQ score for each person was measured using Wechsler Adult Intelligence Scale-Revised (WAIS-R). Participants were reported on eleven scores of subsets, verbal IQ (VIQ), performance IQ (PIQ), and full score IQ (FSIQ). RESULT: The scores of FSIQ, VIQ, PIQ, vocabulary, similarities, and digit-symbol in NMOSD and MS individuals were lower than the control group. Relative to control, NMOSD patients reported a lower score of information. We found no difference between NMOSD and MS groups, except in vocabulary and similarities. No significant difference between seropositive and seronegative NMOSD groups was observed except for the information and block design. In NMOSD group, a greater EDSS score was associated with decreased scores of FSIQ, VIQ, and PIQ. Being employed and being married were associated with greater scores of VIQ and PIQ, respectively. In both NMOSD and MS groups, advanced education was associated with increased scores of FSIQ and VIQ. CONCLUSION: Our study showed decreased IQ scores in NMOSD and MS. Further studies are required to examine intellectual quotient in people with NMOSD and MS.


Subject(s)
Multiple Sclerosis , Neuromyelitis Optica , Adult , Humans , Cross-Sectional Studies , Intelligence Tests , Intelligence
4.
Front Psychol ; 13: 853641, 2022.
Article in English | MEDLINE | ID: mdl-35756256

ABSTRACT

Background: Complex Regional Pain Syndrome (CRPS) is a clinical syndrome composed of chronic pain, motor impairment, and autonomic dysfunction, usually affecting a limb. Although CRPS seems to be a peripheral disorder, it is accompanied by parietal alterations leading to body schema impairments (the online representations of the body). Impairments to body structural description (the topographical bodily map) were not assessed systematically in CRPS. A patient we encountered with severe disruption to her bodily structural description led us to study this domain further. Aims: To document aberrant body structural description in subjects with CRPS using an object assembly task. Methods: Body Schema Study: 6 subjects with CRPS-I and six age and sex-matched healthy controls completed visual puzzles taken from WAIS-III and WAIS-R. The puzzles were either related to the human body or non-human body objects. Mann-Whitney U-tests were performed to compare groups' performances. Results: The CRPS group received relatively lower scores compared to controls for human body objects (u = 3, p < 0.05), whereas the non-human object scoring did not reveal significant differences between groups (u = 9, p > 0.05). Conclusion: CRPS subjects suffer from impaired body structural description, taking the form of body parts disassembly and body parts discontinuity. This impairment can serve as a nidus for aberrant psychological representation of the body.

5.
Clin Transl Radiat Oncol ; 33: 7-14, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34988299

ABSTRACT

BACKGROUND: Posterior fossa tumors represent two thirds of brain tumors in children. Although progress in treatment has improved survival rates over the past few years, long-term memory impairments in survivors are frequent and have an impact on academic achievement. The hippocampi, cerebellum and cerebellar-cortical networks play a role in several memory systems. They are affected not only by the location of the tumor itself and its surgical removal, but also by the supratentorial effects of complementary treatments, particularly radiotherapy. The IMPALA study will investigate the impact of irradiation doses on brain structures involved in memory, especially the hippocampi and cerebellum. METHODS/DESIGN: In this single-center prospective behavioral and neuro-imaging study, 90 participants will be enrolled in three groups. The first two groups will include patients who underwent surgery for a posterior fossa brain tumor in childhood, who are considered to be cured, and who completed treatment at least 5 years earlier, either with radiotherapy (aggressive brain tumor; Group 1) or without (low-grade brain tumor; Group 2). Group 3 will include control participants matched with Group 1 for age, sex, and handedness. All participants will perform an extensive battery of neuropsychological tests, including an assessment of the main memory systems, and undergo multimodal 3 T MRI. The irradiation dose to the different brain structures involved in memory will be collected from the initial radiotherapy dosimetry. DISCUSSION: This study will provide long-term neuropsychological data about four different memory systems (working memory, episodic memory, semantic memory, and procedural memory) and the cognitive functions (attention, language, executive functions) that can interfere with them, in order to better characterize memory deficits among the survivors of brain tumors. We will investigate the correlations between neuropsychological and neuroimaging data on the structural (3DT1), microstructural (DTI), functional (rs-fMRI), vascular (ASL) and metabolic (spectroscopy) impact of the tumor and irradiation dose. This study will thus inform the setting of dose constraints to spare regions linked to the development of cognitive and memory functions. TRIAL REGISTRATION: ClinicalTrials.gov: NCT04324450, registered March 27, 2020, updated January 25th, 2021. Retrospectively registered, https://www.clinicaltrials.gov/ct2/show/NCT04324450.

6.
J Neuropsychol ; 16(1): 211-235, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34218514

ABSTRACT

OBJECTIVES: The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), emphasizes symptoms severity with regard to the diagnosis of attention deficit hyperactivity disorder (ADHD). Many clinicians use neuropsychological test results as objective measures of cognitive functions as part of the diagnostic work-up. The aim of this study was to investigate whether the psychometric test results regarding verbal working memory and processing speed are useful as indicators of the severity of attention deficits and emotional dysregulation in adults with ADHD. METHODS: This observational cross-sectional clinical study included 418 adults diagnosed with ADHD according to the DSM-5. Attention deficit severity was defined based on the inattentive subscale of the Adult ADHD Self-Report Scale. Emotional dysregulation was assessed with the Deficient Emotional Self-Regulation scale. Verbal working memory was measured with the Working Memory Index (WMI), and processing speed was measured with the Processing Speed Index (PSI) from the Wechsler Adult Intelligence Scale, third edition. RESULTS: The full-scale intelligence quotients of the participants were in the normal range, with expected reductions in verbal working memory and processing speed. Only processing speed was associated with attention deficits (ß = -.056, p = .003). The association between the psychometric test result for verbal working memory and processing speed and that between the severity of attention deficits and emotional dysregulation were weak (R2 < .1) and mostly non-significant. CONCLUSION: The psychometric index scores for verbal working memory (WMI) and processing speed (PSI) seem to have limited utility as indicators of the severity of attention deficits and emotional dysregulation in adult ADHD patients.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Adult , Attention Deficit Disorder with Hyperactivity/complications , Cognition/physiology , Cross-Sectional Studies , Humans , Memory, Short-Term/physiology , Neuropsychological Tests
7.
Front Neuroanat ; 16: 995286, 2022.
Article in English | MEDLINE | ID: mdl-36590377

ABSTRACT

Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and is associated with a variety of structural and psychological alterations. Recently, there has been renewed interest in using brain tissue resected during epilepsy surgery, in particular 'non-epileptic' brain samples with normal histology that can be found alongside epileptic tissue in the same epileptic patients - with the aim being to study the normal human brain organization using a variety of methods. An important limitation is that different medical characteristics of the patients may modify the brain tissue. Thus, to better determine how 'normal' the resected tissue is, it is fundamental to know certain clinical, anatomical and psychological characteristics of the patients. Unfortunately, this information is frequently not fully available for the patient from which the resected tissue has been obtained - or is not fully appreciated by the neuroscientists analyzing the brain samples, who are not necessarily experts in epilepsy. In order to present the full picture of TLE in a way that would be accessible to multiple communities (e.g., basic researchers in neuroscience, neurologists, neurosurgeons and psychologists), we have reviewed 34 TLE patients, who were selected due to the availability of detailed clinical, anatomical, and psychological information for each of the patients. Our aim was to convey the full complexity of the disorder, its putative anatomical substrates, and the wide range of individual variability, with a view toward: (1) emphasizing the importance of considering critical patient information when using brain samples for basic research and (2) gaining a better understanding of normal and abnormal brain functioning. In agreement with a large number of previous reports, this study (1) reinforces the notion of substantial individual variability among epileptic patients, and (2) highlights the common but overlooked psychopathological alterations that occur even in patients who become "seizure-free" after surgery. The first point is based on pre- and post-surgical comparisons of patients with hippocampal sclerosis and patients with normal-looking hippocampus in neuropsychological evaluations. The second emerges from our extensive battery of personality and projective tests, in a two-way comparison of these two types of patients with regard to pre- and post-surgical performance.

8.
BMC Psychiatry ; 21(1): 617, 2021 12 09.
Article in English | MEDLINE | ID: mdl-34886841

ABSTRACT

BACKGROUND: Deficits in cognitive performance are reported in patients with anxiety disorders, but research is limited and inconsistent. We aimed to investigate cross-sectional associations between cognitive function, with focus on executive function, and anxiety severity in primary care patients diagnosed with anxiety disorders. METHODS: 189 Swedish patients aged 18-65 years (31% men) with anxiety disorders diagnosed according to Mini International Neuropsychiatric Interview were included. Severity of anxiety was assessed using Beck Anxiety Inventory self-assessment scale. Digit span, block design and matrix reasoning tests from the Wechsler Adult Intelligence Scale IV, and the design fluency test from the Delis-Kaplan Executive Function System were used. Multivariable linear regression models were applied to investigate the relationship of anxiety severity and cognitive functioning. Comparisons were also performed to a normed non-clinical population, using the Wilcoxon signed rank test. RESULTS: More severe anxiety was associated with lower digit span test scores (R2 = 0.109, B = -0.040, p = 0.018), but not with block design, matrix reasoning or design fluency tests scores, after adjustment for comorbid major depression in a multivariable model. When compared to a normed population, patients with anxiety performed significantly lower on the block design, digit span forward, digit span sequencing and matrix reasoning tests. CONCLUSIONS: Severity of anxiety among patients with anxiety disorder was associated with executive functions related to working memory, independently of comorbid major depression, but not with lower fluid intelligence. A further understanding of the executive behavioral control in patients with anxiety could allow for more tailored treatment strategies including medication, therapy and interventions targeted to improve specific cognitive domains.


Subject(s)
Cognition , Depressive Disorder, Major , Adult , Anxiety , Anxiety Disorders/diagnosis , Cross-Sectional Studies , Executive Function , Female , Humans , Male , Neuropsychological Tests , Primary Health Care
9.
Mol Genet Metab Rep ; 29: 100805, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34646736

ABSTRACT

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifestations and sometimes present with severe hepatic disease. We previously investigated the status of UCDs in Japan; however, only one patient was identified as having ARG1 deficiency. Therefore, we aimed to investigate the current status of patients with ARG1 deficiency in 2018-2021 because almost 10 years have passed since the previous study. We present the disease history, clinical outcome, and treatment of five surviving patients with ARG1 deficiency and discuss the features of ARG1 deficiency in Japan. We found that clinicians often face difficulty in diagnosing ARG1 deficiency at the early stage of onset because of interpatient variability in onset time and clinical manifestations. Blood L-arginine and guanidino compounds were considered to be the major factors causing adverse neurodevelopmental outcomes. Therefore, early detection and intervention of ARG1 deficiency is essential for improved neurodevelopmental outcomes. Liver transplantation has been considered an effective treatment option that can dramatically improve the quality of life of patients, prior to the neurological manifestation of symptoms caused by ARG1 deficiency.

10.
Neuropsychopharmacol Rep ; 41(3): 371-378, 2021 09.
Article in English | MEDLINE | ID: mdl-34128359

ABSTRACT

BACKGROUND: Some pieces of the literature report impaired cognitive functioning in tramadol dependence. Whether extended abstinence improves cognitive functioning or not is not well studied. AIM: We aimed to measure the change in cognitive functioning following complete abstinence among individuals with tramadol dependence. METHODS: Eighty-three male tramadol-dependent (TD) and 57 matched healthy controls participated in this study. Cognitive functions were assessed using: The Trail making test (TMT), Wechsler Memory Scale-Revised (WMS-R), and Wechsler Adult Intelligence Scale (WAIS). Patients were assessed in the first week immediately after the end of the in-patient treatment program (T1), and after six months of sustained abstinence (T2). RESULTS: At T1, the TD group showed deficits on all tested cognitive parameters (visual attention, task switching, working memory, visual memory, verbal memory, verbal knowledge, Verbal IQ, Performance IQ, and Full-Scale IQ) in comparison to the control group. At T2, significant improvements had occurred in all the tested parameters except performance IQ. The cognitive performance of the abstinent individuals at T2 was comparable to the control group for the verbal subsets of WMS-R, Verbal IQ, Performance IQ, and Full-Scale IQ. Nevertheless, it was still worse than the control group in TMT, and all other WMS subsets. CONCLUSION: tramadol dependence has negative effects on cognitive performance, which improves with extended abstinence.


Subject(s)
Tramadol , Adult , Cognition , Cohort Studies , Humans , Male , Memory, Short-Term , Tramadol/therapeutic use , Wechsler Scales
11.
Psychiatry Clin Neurosci ; 75(4): 128-137, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33368739

ABSTRACT

AIM: This study aimed to examine the cognitive performance of patients with bipolar disorder (BD) stratified by illness phase compared to that of patients with major depressive disorder (MDD) and healthy controls. METHODS: Participants were 139 patients with BD (55 euthymic and 84 depressed), 311 patients with MDD (88 euthymic and 223 depressed), and 386 healthy controls who underwent the Wechsler Adult Intelligence Scale-Revised or the Third Edition. They were non-elderly Japanese individuals with normal estimated premorbid intelligence quotient (IQ; >90), group-matched for age, sex, and premorbid IQ. RESULTS: The depressed BD group showed significantly lower scores on verbal IQ, performance IQ, full-scale IQ, and three group indexes of perceptual organization, working memory, and processing speed when compared with healthy controls (all P < 0.001). All IQs and working memory index were also significantly lower than those of the depressed MDD group. The depressed MDD group scored significantly lower than controls in performance IQ (P < 0.001), full-scale IQ, and only in the index of processing speed (P < 0.001). The euthymic BD group scored significantly lower than controls in performance IQ (P = 0.004), whereas the euthymic MDD group scored significantly lower than controls only in processing speed (P = 0.030). CONCLUSION: Patients with BD appear to have global and more intense cognitive impairments in depressed states compared with those with MDD whose impairments seem to be apparent only in processing speed in the Wechsler Adult Intelligence Scale. Attenuated impairments appear to exist in euthymic states of both patients.


Subject(s)
Bipolar Disorder/complications , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Depressive Disorder, Major/complications , Wechsler Scales/standards , Adult , Female , Humans , Japan , Male , Middle Aged
12.
Appl Neuropsychol Adult ; 28(6): 707-716, 2021.
Article in English | MEDLINE | ID: mdl-31747821

ABSTRACT

OBJECTIVE: The Wechsler Adult Intelligence Scale, 4th edition (WAIS-IV) is a commonly utilized cognitive battery across many clinical settings. However, due to various patient variables, an abbreviated assessment of intellectual abilities, may be clinically advantageous to allow for a more thorough assessment of other cognitive domains. The current study represents an attempt to propose additional short-form IQ estimations in an outpatient clinical sample. METHODS: We examined archival data from 318 concurrent psychological/psychoeducational evaluations performed within a university clinic (Mage = 28.67; 53.8% women). Thirty-six unique 4-subtest short-form IQ combinations were created to ensure that each WAIS-IV index score was represented by a single subtest. RESULTS: Complete data for the ten core subtests and FSIQ were available for 192 cases. Stepwise regression analyses revealed three short-form combinations that significantly accounted for unique variance in true FSIQ scores in the final model (R2 = .981, F[3, 188] = 3257.597, p < .001). Regression-based and prorated FSIQ estimates were calculated, and both methods revealed that approximately 70-75% of participants' FSIQ estimates fell within five Standard Score points of true FSIQ. CONCLUSION: Results suggest the utility of three derived 4-subtest short-form IQ estimations for use within a clinical sample.


Subject(s)
Intelligence , Outpatients , Adult , Female , Humans , Male , Neuropsychological Tests , Reproducibility of Results , Wechsler Scales
13.
Appl Neuropsychol Adult ; 28(1): 12-23, 2021.
Article in English | MEDLINE | ID: mdl-31010316

ABSTRACT

The Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) is a commonly administered battery for assessing intellectual and cognitive abilities. Despite its popularity, construct validation studies primarily utilize the WAIS-IV normative sample rather than ecologically-valid clinical samples. The current study expands the literature on the validity of WAIS-IV by testing a bifactor model in such a sample. We examined archival data from 300 concurrent psychological evaluations performed at a university-based community clinic. Participants received the full WAIS-IV standard battery. Consistent with recent literature, confirmatory factor analyses (CFAs) favored a direct hierarchical model, where the g factor has a direct influence on WAIS-IV subtest performance and index scores explain only modest degrees of residual variance. Results challenge traditional intelligence nosologies and suggest consideration of a two-step method of WAIS-IV interpretation in clinical samples, whereby the Full Scale IQ score (FSIQ) score is examined first and individual subtest scores are analyzed second.


Subject(s)
Behavioral Symptoms , Data Interpretation, Statistical , Intelligence , Mental Disorders , Psychometrics/standards , Wechsler Scales/standards , Adolescent , Adult , Behavioral Symptoms/physiopathology , Factor Analysis, Statistical , Female , Humans , Intelligence/physiology , Male , Mental Disorders/physiopathology , Middle Aged , Reproducibility of Results , Young Adult
14.
Psychol Russ ; 14(2): 42-58, 2021.
Article in English | MEDLINE | ID: mdl-36810993

ABSTRACT

Background: The most significant features for clinical diagnosis of schizotypal personality disorder (SPD) are cognitive-perceptual and disorganized symptoms. Experimental study of visual perceptual processes is important to elucidate the psychological mechanisms of cognitive-perceptual impairment in SPD. Objective: To research the performance of visual perceptual tasks in SPD. Design: Series I and II presented the subjects with visual perceptual tasks with different types of instructions (vague, verbal, or visual perceptual cues). The Wechsler Adult Intelligence Scale (WAIS-R) was also administered. The participants were 39 SPD patients, 36 obsessive-compulsive personality disorder (OCPD) patients (F.21.8, F.60.5 in ICD-10, respectively), and 102 healthy controls. Results: SPD patients had a significantly lower number of correct answers in conditions of vague instruction and verbal cues in Series I of a visual-perceptual task in comparison with healthy subjects (p < 0.01). With visual perceptual cues in Series II, patients with SPD had the same number of correct answers as controls, whereas OCPD patients had the same number of correct answers as controls with verbal cues in Series I. SPD patients had significantly lower scores in most verbal and nonverbal WAIS-R subtests in comparison with controls. SPD patients differed from OCPD patients in that they had lower scores in the "Information" (p < 0.05) and "Comprehension" (p < 0.05) subtests. Conclusion: With visual-perceptual cues, SPD patients were able to achieve normative results in the performance of visual-perceptual tasks, whereas patients with OCPD demonstrated lower productivity. In SPD patients, the basic impairments were associated with difficulties in inhibition of peculiar responses, stability of a subjective manner of performance and inability to revise it, low orientation to the model, and slipping into subjective associations with the stimuli.

15.
Arch Clin Neuropsychol ; 36(4): 620-625, 2021 May 21.
Article in English | MEDLINE | ID: mdl-33009801

ABSTRACT

OBJECTIVE: Abbreviated and virtual neuropsychological assessment practices are growing in popularity and viable alternatives to traditional testing methods are needed, especially in the face of global health concerns. This study generated and examined short form (SF) full-scale IQ (FSIQ) estimations, which lend themselves to virtual test administration. METHODS: Archival data were procured from 318 concurrent cognitive evaluations at a university clinic. Twenty-six unique SF combinations, including dyads, triads, tetrads, and pentads, were created from Wechsler Adult Intelligence Scale, 4th edition (WAIS-IV) subtests within verbal comprehension and working memory indices due to these tests' ability to be administered without visual stimuli or psychomotor involvement. RESULTS: Stepwise regression analyses revealed 9 SF combinations (i.e., 1 pentad, 3 tetrads, 2 triads, and 3 dyads) that significantly accounted for unique variance in FSIQ scores and provided good accuracy estimating FSIQ. CONCLUSION: Results suggest the potential viability of verbal WAIS-IV SF FSIQ estimations for clinical use when assessing patients with motor or visual impairments, as well as performing tele-neuropsychological services.


Subject(s)
Memory, Short-Term , Vision Disorders , Adult , Humans , Intelligence Tests , Neuropsychological Tests , Wechsler Scales
16.
Epilepsy Behav Rep ; 14: 100389, 2020.
Article in English | MEDLINE | ID: mdl-33024953

ABSTRACT

The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen genes have been identified as causes of NCL, which can present as infantile, late-infantile, juvenile or adult forms. CLN6 codes for an endoplasmic reticulum transmembrane protein of unknown function. Homozygous and compound heterozygous mutations of the gene are associated with both late-infantile (LINCL) and adult onset (ANCL) forms of NCL, including Kufs disease, comprising ANCL without associated visual loss. Moyamoya, a rare vasculopathy of the circle of Willis, has been reported in conjunction with a number of inflammatory and other diseases, as well as a handful of lysosomal storage diseases. To our knowledge, this is the first reported case of Moyamoya in the context of the neuronal ceroid lipofuscinoses or a CLN6-related disease.

17.
J Med Life ; 13(3): 283-288, 2020.
Article in English | MEDLINE | ID: mdl-33072197

ABSTRACT

Cognitive dysfunction is a significant complaint among patients after moderate to severe traumatic brain injury (TBI), with devastating consequences on functional recovery and quality of life. Prognostic models allow a better assessment and management of neurotrauma patients. The aim of the study was to demonstrate the predictive value of the Baseline Prognostic Risk Score (BPRS) in moderate to severe TBI, in a sample of patients treated with neurotrophic factors. Eighty patients with moderate-severe TBI from the CAPTAIN II study were included in secondary data analysis. Patients received active treatment with Cerebrolysin, 50 mL per day for ten days, followed by two treatment cycles with 10 mL per day for ten days. BPRS was determined on admission; the age was recorded, and patients were evaluated using the following neurocognitive tests: Mini-Mental State Essay (MMSE), Wechsler Adult Intelligence Scale-Third Edition Processing Speed Index (WAIS-III PSI) and Stroop Colour Word Test-Victoria Version at 10, 30 and 90 days. Hierarchical regression analysis was performed to investigate the unique predictive value of BPRS on cognitive evolution, independent of age. BPRS independently predicted scores on the WAIS-III PSI DSCales and the Word subscale of the Stroop Colour Word Test at 90 days. Age was a significant predictor for all the investigated scales at 10, 30, and 90 days. This study demonstrates the predictive value of a validated prognostic model (BPRS) for medium-term neurocognitive outcomes in a sample of moderate-severe traumatic brain injury treated with neurotrophic factors.


Subject(s)
Amino Acids/therapeutic use , Brain Injuries, Traumatic/drug therapy , Adult , Amino Acids/pharmacology , Attention/drug effects , Brain Injuries, Traumatic/physiopathology , Cognition/drug effects , Executive Function/drug effects , Female , Humans , Male , Mental Status and Dementia Tests , Middle Aged , Predictive Value of Tests , Prognosis , Quality of Life , Recovery of Function/drug effects , Risk Factors , Stroop Test , Wechsler Scales
18.
J Med Life ; 13(3): 306-313, 2020.
Article in English | MEDLINE | ID: mdl-33072201

ABSTRACT

Seric biomarkers have been tested in a large number of studies on traumatic brain injuries (TBI) patients in order to predict severity, especially related to the short-term outcome. However, TBI patients have a high risk of developing long-term complications such as physical disability, cognitive impairment, psychiatric pathology, epilepsy, and others. The aim of this study was to assess the correlation between protein biomarkers S100 and neuron-specific enolase (NSE) and neurocognitive status at 10- and 90-days post-injury. Both biomarkers were tested in the first 4h and after 72h post-injury in 62 patients with moderate-severe TBI. The patients were evaluated by a series of neurocognitive tests: Early Rehabilitation Barthel Index (ERBI), Glasgow Outcome Scale-Extended (GOSE), The Mini-Mental State Examination (MMSE), Processing Speed Index (PSI), and Stroop Test, at 10 and 90 days post-injury and supplementary by the Hospital Anxiety and Depression Scale at 90 days. For evaluating the whole neurocognitive status instead of every scale separately, we used Structural Equation Modeling (SEM), while for anxiety and depressive symptoms, we used multiple regression analyses. SEM showed that NSE values at 4 hours were significant predictors of the cognitive status at 10 (p=0.034) and 90 days (p= 0.023). Also, there were found significant correlations between NSE at 4h and the anxiety level. This study demonstrated a significant correlation between NSE at 4h and short and medium-term neuropsychological outcomes, which recommends using this biomarker for selecting patients with a higher risk of cognitive dysfunction.


Subject(s)
Brain Injuries, Traumatic/blood , Brain Injuries, Traumatic/physiopathology , Cognition , Phosphopyruvate Hydratase/blood , S100 Proteins/blood , Adult , Biomarkers/blood , Emotions , Female , Humans , Male , Middle Aged , Regression Analysis , Young Adult
20.
Front Hum Neurosci ; 14: 211, 2020.
Article in English | MEDLINE | ID: mdl-32581752

ABSTRACT

BACKGROUND: The Wechsler Adult Intelligence Scale, 3rd edition (WAIS-III) is widely used to evaluate the intelligence quotient (IQ). We aimed to investigate the correlation between the WAIS-III metrics and whole-brain structures using magnetic resonance imaging. METHODS: The participants were 266 healthy, right-handed individuals (age: 45.6 ± 12.9 years, 98 males and 168 females). IQs were evaluated using the WAIS-III and Japanese Adult Reading Test (JART). Voxel-based morphometry and diffusion tensor imaging were performed to analyze the correlation of the WAIS-III metrics and JART score with the gray matter volume and white matter integrity, respectively. RESULTS: The verbal IQ significantly and positively correlated with the left gyrus rectus and anterior cingulate gyrus, left posterior insula and planum polare, and left superior and middle frontal gyri volumes (p < 0.05, corrected). The verbal comprehension group index significantly and positively correlated with the left superior and middle frontal gyri, left gyrus rectus and anterior cingulate gyrus, and left middle frontal gyrus volumes, while the processing speed group index significantly and positively correlated with the bilateral various regional white matter fractional anisotropy values (p < 0.05, corrected). In contrast, the JART score showed no correlation with any brain structure. CONCLUSION: These results suggested the neurostructural bases of the WAIS-III IQs and group indices in the brain of healthy individuals.

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