scholarly journals Machado-Joseph disease op azorean ancestry in Brazil: the Catarina kindred neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the «Catarina» kindred

1993 ◽  
Vol 51 (1) ◽  
pp. 21-30 ◽  
Author(s):  
J. Radvany ◽  
C.H.P. Camargo ◽  
Z.M. Costa ◽  
N.C. Fonseca ◽  
E.D. Nascimento

At the moment 9 seemingly independent families with the clinical diagnosis of MJD are known in Brazil. The largest family tree of Azorean ancestry contatins 622 individuals in 9 generations. 236 were examined, 39 found to be affected by two examiners. Pheno-types I, II and III were expressed by 12, 23 and 4 patients with age of onset by phenotypea being 10-48, 14-54 and 30-55 respectively. Although clinically more severe, juvenile onset type I disease did not show as severe a ponto-mesencephialic atrophy on MRI as the father with type II disease of similar symptomatic duration. None of the 8 patients examined with MRI showed olivary atrophy or pallidal abnormalities. 12 affected and 23 at risk were evaluated with neuropsychological tests. Attention was normal in both groups. Verbal memory scores were below normal in the affected and there was greater decay with time than in the risk group. Both scored below normal in identifying silluettes and constructional praxis. Visual memory scores were well below normal for both, with many rotations but no omissions or confabulations. A peculiar pattern of multiplying internal details called «the fly-eye effect» was observed in 6 affected and 8 at risk. Defective color distinction when multiple colors presented close to each other, in face of proper naming of individual colors («color simultantagnosia»), was looked for in 29 people. 4/10 affected and 4/19 at risk showed this phenomenon. Cognitive dysfunctions in this MJD family are prominent in the sphere of vision. Whether they constitute an early manifestation in those at risk and thus serve as a clinical identifier of the illnes is yet to be established. Depression was looked for in the history of the family with DSM III-R criteria and an atempt at quantification with the Montgomery-Asberg Rating Scale. There was no significant quantitative difference between affected and at risk. Once undeniably symptomatic however, the patients had no, or less depression than themselves before or tat the early stages of the illness. Covert depression was appropriately excluded. Fully established MJD in this family seemed to exert a protective effect from depression.

2019 ◽  
pp. 052-058
Author(s):  
Bourin Michel

It appears that bipolar patients suffer from cognitive difficulties whereas they are in period of thymic stability. These intercritical cognitive difficulties are fairly stable and their severity is correlated with the functional outcome of patients. Nevertheless, the profile of cognitive impairment varies significantly from study to study quantitatively and qualitatively. According to the studies, the authors find difficulties in terms of learning, verbal memory, visual memory, working memory, sustained attention, speed of information processing, functions executive. On the other hand, deficits of general intelligence, motor functions, selective attention, and language are not usually found. One of the reasons for the heterogeneity of results is the difficulty of exploring cognition in bipolar disorder. Many factors must be taken into account, such as the presence of residual mood symptoms, the longitudinal history of the disorder (age of onset, number of episodes due, among others, the neurotoxic impact of depressive episodes and deleterious cognitive effects). (length of hospitalization), level of disability severity, comorbidities (particularly addictive).


2015 ◽  
Vol 8 (3) ◽  
pp. 156-172 ◽  
Author(s):  
O.Yu. Schyolkova ◽  
D.A. Eremina

Memory disorders are a common pathology in children with convulsive paroxysms. The present study tested the hypothesis that the pathology of memory in children with paroxysmal states have quantitative and qualitative specificity. The study involved 107 children aged 6–10 years. 59 people had a history of paroxysmal state, 12 people with epileptiform activity on EEG without seizures in history. A comparison group comprised 36 people with residual cerebral pathology without a history of seizures. The study used experimental psychological and neuropsychological research methods memory. The results of empirical studies have shown that increasing importance in the picture of violations mnestic activity in children with convulsive paroxysms addition to short-term verbal memory disorders have impaired short-term visual memory, the phenomenon of amnestic aphasia and modal-nonspecific memory disorders. The degree of short-term verbal memory disorders correlates with the age of onset of seizures, visual memory - with the number of attacks in history. Consideration of the results will allow to organize the process of providing psychological assistance to sick children more effectively.


2015 ◽  
Vol 8 (3) ◽  
pp. 145-155 ◽  
Author(s):  
N.G. Turovskaya

Memory disorders are a common pathology in children with convulsive paroxysms. The present study tested the hypothesis that the pathology of memory in children with paroxysmal states have quantitative and qualitative specificity. The study involved 107 children aged 6-10 years. 59 people had a history of paroxysmal state, 12 people with epileptiform activity on EEG without seizures in history. A comparison group comprised 36 people with residual cerebral pathology without a history of seizures. The study used experimental psychological and neuropsychological research methods memory. The results of empirical studies have shown that increasing importance in the picture of violations mnestic activity in children with convulsive paroxysms addition to short-term verbal memory disorders have impaired short-term visual memory, the phenomenon of amnestic aphasia and modal-nonspecific memory disorders. The degree of short-term verbal memory disorders correlates with the age of onset of seizures, visual memory - with the number of attacks in history. Consideration of the results will allow to organize the process of providing psychological assistance to sick children more effectively.


2016 ◽  
Vol 33 (S1) ◽  
pp. S122-S122
Author(s):  
R.S. Ilhan ◽  
V. Senturk-Cankorur

IntroductionMost of the studies have indicated that there have been neurocognitive impairments especially in the domains of executive functions, attention, verbal and working memory among euthymic patients with bipolar disorder type I (BD-I). However, there has been limited research investigating neurocognitive functioning in euthymic patients with BD- II.Objectives/aimsAim of this study was to investigate neurocognitive functions in euthymic BD-II patients. Our hypothesis was that euthymic BD-II patients would have neurocognitive impairments in the domains of executive functions, attention, verbal and working memory.MethodsEuthymic BD-II patients (n = 37) and healthy controls (HC) (n = 35) were compared in terms of their neurocognitive functioning in the domains of executive functions assesed by the number of perseverative errors, non-perseverative errors and category completed on the Wisconsin Cart Sorting Test (WCST); working memory assessed by Auditory Consonant Trigrams (ACT); immediate verbal memory assessed by the Logical Memory subscale of the Wechsler Memory Scale I (WMS I) and attention assesed by Stroop Colour-Word Interference Test (SCWIT). Euthymic state was confirmed by the low scores both on Hamilton Depression Rating Scale, Young Mania Rating Scale.ResultsSignificant differences were found between two groups in terms of WCST non-perseverative errors (Z = 3.8, P < 0.01) and category completed subtests (Z = 3.8, P < 0.01), ACT (t = 2.97, P < 0.01) WMSI (Z = 2.4, P = 0.01), SCWIT (t = 3.52, P < 0.01) performances.ConclusionsOur study indicated that euthymic BD-II patients had poorer performance on the domains of executive functions, attention, working memory and verbal memory than the HC group. But future studies with large samples are needed to support our results.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2011 ◽  
Vol 26 (S2) ◽  
pp. 1534-1534
Author(s):  
Y. Zaytseva ◽  
I. Gurovich ◽  
A. Dorodnova ◽  
L. Movina ◽  
A. Shmukler

IntroductionDuration of untreated psychosis (DUP) is a potentially changeable prognostic factor which can also indicate neurodegenerative process in schizophrenia.ObjectiveTo examine the association of DUP with various characteristics of the course of schizophrenia in first episode patients during 5-year follow-up.MethodsOne-hundred-fourteen patients with first psychotic episodes who have been treated in naturalistic setting within Early Intervention Centre (Moscow Research Institute of Psychiatry) were included. Clinical, social and neuropsychological parameters were assessed using standardized instruments.ResultsThe mean duration of untreated psychotic symptoms before admission was 298.66 ± 447.35 days. According to the analysis DUP was found to be significantly associated with the mode of onset (r = 0.51, p ≤ 0.001) level of remission (r = 0.21–0.30, p ≤ 0.05), severity of positive symptoms and negative symptoms in remission mostly at 2nd, 3d and 4th years of observation, poorer level of social adjustment at the 5th year (r = 0.19, p ≤ 0.05). The effect of DUP remained significant after controlling for age, gender and diagnostic variables.Moreover, DUP correlated with the parameters of verbal memory, visual memory and spatial functions during the follow-up (r = 0.29–0.36, p ≤ 0.05, r = 0.28–0.30, p ≤ 0.05, respectively). No correlations have been found between DUP and the age of onset, number of relapses and their duration during 5-year follow-up as well as with other neurocognitive parameters (executive functioning, gnosis, praxis, attention).ConclusionsThe results of the study underline the prognostic value of DUP for predicting clinical and functional outcomes. Association between DUP and poor memory domains supports the notion of neurotoxicity of DUP grasping specific brain regions in schizophrenia.


2016 ◽  
Vol 33 (S1) ◽  
pp. S108-S109
Author(s):  
S. Veerman ◽  
P. Schulte ◽  
J.B. Deijen ◽  
L. de Haan

IntroductionIn a recent 26-week placebo-controlled, crossover trial (n = 52) we found significant positive effects on verbal and visual memory, and negative symptoms in clozapine-treated patients with refractory schizophrenia.ObjectivesIn this 1-year extension study, we report the long-term effects and tolerability of memantine add-on therapy to clozapine.AimsTo evaluate the persistence of improvements in cognitive functioning and symptoms of memantine add-on therapy to clozapine in schizophrenia.MethodsCompleters of the first trial who experienced a beneficial effect of memantine after 12 weeks continued memantine for one year. Primary endpoints were change from baseline to 26 weeks treatment and 26 weeks to 52 weeks treatment on memory and executive function using the Cambridge Neuropsychological Test Automated Battery (CANTAB), Positive and Negative Syndrome Scale (PANSS), and Clinical Global Impression Severity Scale (CGI-S). Secondary endpoints were change on the Health of the Nation Outcome Scales (HoNOS) and Liverpool University Neuroleptic Side Effect Rating Scale (LUNSERS).ResultsOf 32 completers who experienced a beneficial effect of memantine 23 patients continued memantine for one year. Memory improvement was sustained, verbal recognition memory improved even further between t = 26 weeks and t = 52 weeks. Continued treatment with memantine add-on to clozapine was associated with significantly improved PANSS positive, negative and overall score, CGI-S and HoNOS scores.ConclusionsIn the extension phase the positive effect of memantine add-on therapy on verbal memory sustained and positive, negative and overall symptoms of schizophrenia, clinical global status and psychosocial functioning significantly improved. Memantine was well tolerated without serious adverse effects.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2016 ◽  
Vol 33 (S1) ◽  
pp. S97-S98 ◽  
Author(s):  
A. El-Missiry

BackgroundMedication non-adherence presents a considerable problem in patients with schizophrenia. Cognitive and executive functions can affect adherence. The association between medication non-adherence and cognitive impairment in schizophrenia is under investigated with limited and conflicting research data.Purpose of the studyTo prospectively assess the rate of drug adherence among a sample of patients with schizophrenia and to compare the cognitive and executive functions between adherent and non-adherent patients.Subjects and methodsOne hundred and nine patients with schizophrenia diagnosed according to the DSM-IV classification were initially assessed by the Wechsler Adult Intelligence Scale (WAIS), Wechsler Memory Scale-Revised (WMS-R) and Wisconsin Card Sorting Test (WCST) and six months later by the Brief Adherence Rating Scale (BARS).ResultsAmong the patients, 68.8% were non-adherent to their antipsychotic medication. Adherent patients (31.2%) had significantly higher mean scores for the total, verbal and performance IQ. Moreover, they had significantly higher mean scores in most of WMS subtests (orientation, information, verbal paired association, digit span, visual memory span), and higher mean scores for; total correct, conceptual level response, percentage and categories completed on the WSCT subscales (P < 0.0001). Whereas the non-adherent group had higher mean scores in; trials administered, total errors, perseverative responses, and perseverative errors (P < 0.0001). In a step regression analysis, digit span, conceptualization, total and percentage of errors were putative predictors of non-adherence to antipsychotic medications.ConclusionCognitive deficits, especially verbal memory and executive functions were the strongest patients’ related factors associated with non-adherence to medication. Psychiatrists should consider possible cognitive factors influencing adherence to enable offering proper interventions.Disclosure of interestThe author has not supplied his declaration of competing interest.


Author(s):  
Katie L.J. Cederberg ◽  
Brianna Mathison ◽  
Morgan L. Schuetz ◽  
Robert W. Motl

Abstract Background: Restless legs syndrome (RLS) is a sleep disorder present in as many as 26% of persons with multiple sclerosis (MS) and can be associated with cognitive function. The present study examined the relationships between RLS symptoms (severity, frequency, occurrence) and cognitive function in adults with MS who have RLS. Methods: Twenty-two participants attended one laboratory session and completed the International Restless Legs Syndrome Study Group Rating Scale (IRLS), the Restless Legs Syndrome-6 Scale (RLS-6), and then the Brief International Cognitive Assessment for Multiple Sclerosis battery consisting of the Symbol Digit Modalities Test; California Verbal Learning Test, Second Edition; and Brief Visuospatial Memory Test–Revised. Results: Nonparametric bivariate correlations indicated that worse IRLS total severity was associated with slower processing speed (ρ = −0.42), worse verbal memory (ρ = −0.63), and worse visual memory (ρ = −0.61); worse RLS severity at falling asleep was associated with worse verbal memory (ρ = −0.45) and worse visual memory (ρ = −0.55); and worse RLS severity during the day while active was associated with slower processing speed (ρ = −0.58), worse verbal memory (ρ = −0.52), and worse visual memory (ρ = −0.60). Conclusions: These results suggest that those with more severe RLS, including worse symptoms at falling asleep and during the day while active, might experience worse cognitive function, particularly processing speed and memory. Future research should evaluate whether treatment of RLS symptoms can offer new opportunities for managing cognitive dysfunction in adults with MS.


2008 ◽  
Vol 43 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Tracey Covassin ◽  
David Stearne ◽  
Robert Elbin

Abstract Context: Athletes are at an inherent risk for sustaining concussions. Research examining the long-term consequences of sport-related concussion has been inconsistent in demonstrating lingering neurocognitive decrements that may be associated with a previous history of concussion. Objective: To determine the relationship between concussion history and postconcussion neurocognitive performance and symptoms in collegiate athletes. Design: Repeated-measures design. Setting: Multi-center analysis of collegiate athletes. Patients or Other Participants: Fifty-seven concussed collegiate athletes (36 without concussion history, 21 with a history of 2 or more concussions). Intervention(s): All subjects were administered an Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT) neurocognitive test battery, which measures verbal memory, visual memory, reaction time, and visual processing speed and 22 concussion symptoms. Main Outcome Measure(s): Subjects who sustained a concussion were administered 2 follow-up tests at days 1 and 5 postinjury. Independent variables were history of concussion (no history of concussion, 2 or more concussions) and time (baseline, day 1 postconcussion, or day 5 postconcussion). Results: A within-subjects effect (time) on ImPACT performance (P &lt; .001), a between-subjects multivariate effect of group (P &lt; .001), and a group-by-time interaction (P  =  .034) were noted. Athletes with a concussion history performed significantly worse on verbal memory (P  =  .01) and reaction time (P  =  .023) at day 5 postconcussion compared with athletes who did not report a previous concussion. No significant group differences were seen at day 5 postinjury on visual memory (P  =  .167), processing speed (P  =  .179), or total concussion symptoms (P  =  .87). Conclusions: Concussed collegiate athletes with a history of 2 or more concussions took longer to recover verbal memory and reaction time than athletes without a history of concussion.


2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Grant L. Iverson ◽  
Ruben J. Echemendia ◽  
Amanda K. LaMarre ◽  
Brian L. Brooks ◽  
Michael B. Gaetz

Background. The literature on lingering or “cumulative” effects of multiple concussions is mixed. The purpose of this study was to examine whether athletes with a history of three or more concussions perform more poorly on neuropsychological testing or report more subjective symptoms during a baseline, preseason evaluation.Hypothesis. Athletes reporting three or more past concussions would perform more poorly on preseason neurocognitive testing.Study Design. Case-control study.Methods. An archival database including 786 male athletes who underwent preseason testing with a computerized battery (ImPACT) was used to select the participants. Twenty-six athletes, between the ages of 17 and 22 with a history of three or more concussions, were identified. Athletes with no history of concussion were matched, in a case-control fashion, on age, education, self-reported ADHD, school, sport, and, when possible, playing position and self-reported academic problems.Results. The two groups were compared on the four neuropsychological composite scores from ImPACT using multivariate analysis of variance followed by univariate ANOVAs. MANOVA revealed no overall significant effect. Exploratory ANOVAs were conducted using Verbal Memory, Visual Memory, Reaction Time, Processing Speed, and Postconcussion Scale composite scores as dependent variables. There was a significant effect for only the Verbal Memory composite.Conclusions. Although inconclusive, the results suggest that some athletes with multiple concussions could have lingering memory deficits.


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