Relationship Between Brain Abnormalities and Cognitive Profile in Williams Syndrome

Previous studies have shown inconsistent results when reporting brain abnormalities in Williams syndrome (WS). This makes an interpretation of clinical and behavioural data uncertain in terms of anatomical localization of brain tissue changes. In this study we employed voxel based morphometry to directly investigate the regional distribution of grey matter (GM) density as a function of individual neuropsychological profiles in individuals with WS. GM maps were regressed against the neuropsychological measures on which WS individuals performed worse than controls. Results showed an association between the regional GM density in the cerebellum, bilaterally, the right Supplementary Motor Area, the right fusiform gyrus, and measures of morpho-syntactic ability. An association was also found between measures of visuo-spatial and visuo-motor abilities and regional GM density in the left cerebellum, left parietal lobule, right superior and left orbital frontal gyri. The study shows the potential to clarify the anatomical substrate underlying specific cognitive deficits in WS.     

Cognitive and motor features in elderly people with bipolar disorder

BACKGROUND: Although elderly people will represent one third of the bipolar population in a few years, data about cognitive and motor features in these patients are very scarce. The aim of this study was to compare the cognitive and motor functioning between elderly euthymic patients with bipolar disorder (BD) and healthy controls, as well as to determine the degree of correlation with psychosocial functioning. METHODS: Euthymic older adults with BD (n=20) and healthy controls (n=20) were evaluated with traditional clinical instruments and measures of exposure to psychotropic drugs and extrapyramidal symptoms. All subjects completed an extensive neuropsychological battery. RESULTS: Patients with BD had more extrapyramidal symptoms and worse performance than healthy controls in psychomotor speed, verbal memory, and executive functions even after controlling sub-clinical symptomatology. These findings were not associated with age at onset or length of illness or with current pharmacological exposure. Psychosocial functioning correlated negatively with performance in psychomotor speed and executive function, and with extrapyramidal symptoms. LIMITATIONS: The small sample size and cross-sectional design. CONCLUSIONS: Older adult patients with BD in a euthymic state could have a similar cognitive and motor profile to that described in younger euthymic bipolar patients. Cognitive-motor disturbances may help to explain impairments in daily functioning among elderly patients with bipolar disorder during remission.     

Psychomotor Slowness in School-Age Children With Congenital Heart Disease

Psychomotor problems are common in children with congenital heart disease (CHD) but their neuropsychological basis remains unknown. This study investigated motor planning, motor control, and motor slowness, three subprocesses potentially underlying these psychomotor deficits. Using various drawing tasks, 45 school-age children with CHD were compared with 41 healthy peers on several kinematic properties. Taking longer to initiate and execute their movements than the controls, the children with CHD exhibited significant motor slowness. No evidence was found for deficits in planning or motor control. Thus, motor slowness appears to be the major determinant of psychomotor problems in school-age children with CHD.     

Psychomotor slowness in school-age children with congenital heart disease

Psychomotor problems are common in children with congenital heart disease (CHD) but their neuropsychological basis remains unknown. This study investigated motor planning, motor control, and motor slowness, three subprocesses potentially underlying these psychomotor deficits. Using various drawing tasks, 45 school-age children with CHD were compared with 41 healthy peers on several kinematic properties. Taking longer to initiate and execute their movements than the controls, the children with CHD exhibited significant motor slowness. No evidence was found for deficits in planning or motor control. Thus, motor slowness appears to be the major determinant of psychomotor problems in school-age children with CHD.     

Are BPI and BPII suicide attempters distinct neuropsychologically?

It is not clear if bipolar disorder I (BPI) and bipolar disorder II (BPII) represent the same disorder on a continuum of severity or two distinct syndromes. Neuropsychological functioning is a means of understanding similarities and differences between diagnostic groups. OBJECTIVE: To compare the neuropsychological functioning of depressed suicide attempters with BPI or BPII and healthy controls. METHODS: Fifty-one individuals with bipolar disorder (BPI n=32, BPII n=19) and a history of suicide attempt were compared with 58 healthy controls with respect to neuropsychological functioning in the following domains: motor functioning, psychomotor performance, attention, memory, working memory, impulsiveness and language fluency. RESULTS: Participants with BPI and BPII performed significantly more poorly than healthy controls on tests of Digit Symbol Test of psychomotor functioning, the N Back Test of working memory and the Go-No-Go Test of impulsiveness. Participants with BPI were significantly worse than controls but not those with BPII on the Test of Verbal Fluency. Participants with BPII performed significantly worse than either controls or those with BPI on the Simple Reaction Time Motor Test and the Stroop Test of attention. CONCLUSION: While participants with both BPI and BPII performed more poorly than healthy controls, individuals with BPII also performed more poorly than those with BPI on some tests suggesting that they may have a unique syndrome. The findings have implications for assessment and treatment in bipolar disorder.     

Relationship Between Brain and Cognitive Processes in Down Syndrome

We investigated regional grey matter (GM) density in adolescents with Down syndrome (DS) compared to age-matched controls and correlated MRI data with neuropsychological measures in the DS group. Inter-group comparisons documented several GM concentration abnormalities in the participants with DS compared to controls. In the adolescents with DS, intra-group results also showed associations between regional GM density and the neuropsychological measures considered. In particular, GM density of the cerebellum and middle and inferior temporal gyrus was associated with linguistic measures. Short-term memory performances were correlated with the inferior parietal lobule, insula, superior temporal gyrus, medial occipital lobe, and cerebellum. Long-term memory abilities were correlated with GM density in the orbitofrontal cortex, lateral and medial temporal lobe regions, and anterior cingulum and visuo-perceptual abilities with GM density the left middle frontal gyrus. Results of this preliminary study are consistent with a not always efficient brain organization in DS.     

The difference in patterns of motor and cognitive function in chronic fatigue syndrome and severe depressive illness

BACKGROUND: Chronic fatigue syndrome (CFS) and major depressive disorder (MDD) share many symptoms and aetiological factors but may have different neurobiological underpinnings. We wished to determine the profile of the biological variables disturbed in CFS and MDD, and identify any critical factors that differentiate the disorders. METHODS: Thirty patients with CFS, 20 with MDD and 15 healthy controls matched group-wise for age and sex were recruited. Subjects were given a detailed battery of motor and cognitive tests, including measures of psychomotor speed, memory and maximal voluntary muscle contraction in both the morning and evening that were balanced to avoid order effects. RESULTS: CFS patients generally performed worse on cognitive tests than healthy controls, but better than patients with MDD. Both patient groups had markedly impaired motor function compared with healthy controls. MDD subjects showed a significantly greater diurnal improvement in maximal voluntary contraction than healthy controls. CONCLUSIONS: Patients with CFS and MDD show similarly substantial motor impairment, but cognitive deficits are generally more marked in MDD. Diurnal changes in some functions in MDD may differentiate the disorder from CFS.     

Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome.

The effect of FMRP levels and chronological age on executive functioning, visual-spatial abilities ,and verbal fluency tasks were examined in 46 school-age girls with fragile X syndrome (FXS). Results indicated that FMRP levels were not predictive of outcome on the neuropsychological tests but that performance on the executive functioning task tended to worsen with chronological age. This age effect was not observed on the tests of visual-spatial abilities or verbal fluency. These data indicate that relative deficits in executive functioning in girls with FXS become more pronounced with age. In contrast, the relative deficits in spatial and verbal abilities of these girls did not appear to increase with age, suggesting that these abilities may be spared.     

Relevance of the catatonic syndrome to the mixed manic episode

BACKGROUND: Catatonic symptoms have been associated with mixed mania in the older psychiatric literature, however, to date no systematic studies have been performed to assess their frequency in these patients. METHOD: Ninety-nine patients with bipolar disorder manic or mixed episode were assessed for the presence of catatonia. RESULTS: Thirty-nine patients fulfilled criteria for mixed mania of whom 24 were catatonic. Among the patients with pure mania, only three were catatonic. Eighteen catatonic patients with mixed mania required admission to the acute care unit (ACU). LIMITATIONS: Our findings only apply to severely ill patients with mixed mania who require ACU admission. Nevertheless, it is important to know, that the likelihood of overlooking catatonia in less severely ill patients with mixed mania is low and that it does not need to be routinely assessed on a general ward. CONCLUSIONS: Catatonia is frequent in mania and linked to the mixed episode. Catatonia in mixed mania is likely to be found among the severely ill group of patients with mixed mania, who require emergency treatment.     

Presentation and frequency of catatonia in new admissions to two acute psychiatric admission units in India and Wales

BACKGROUND: There are no modern cross-cultural comparative studies of the frequency and clinical presentation of catatonia in a Western country and India using standardized rating instruments and diagnostic criteria. METHOD: A total of 104 consecutively admitted patients in Wales and in India were screened for catatonic features using the same standardized rating instrument by the same psychiatrist to generate DSM-IV and other diagnostic criteria for catatonia, and a profile of signs in catatonia. Inter-rater reliability for the ratings made by the research psychiatrist was established with local psychiatrists at each unit. RESULTS: The frequency of DSM-IV criteria catatonia was 13.5% in India versus 9.6% in Wales ( N . S .). The severity of catatonia did not differ between the two units. However, retarded catatonia was more common in India (12.5%) versus Wales ( p <0.05) whereas the frequency of excited catatonia was equally common in both units. Catatonia was found in many different mental disorders not just schizophrenia and affective disorder. CONCLUSIONS: Catatonia is commonly found among psychiatric in-patients with a similar frequency and severity but differing clinical presentations in Wales and India. Some classic signs of catatonia like posturing, catalepsy, staring and stupor were more frequent among psychiatric admissions in India than Wales. The differing clinical presentations may be due to differences in demographic features rather than cultural or aetiological factors.     

The differential diagnosis of catatonic states

Catatonic states do not always signify schizophrenia. Catalepsy, mutism, stereotypy, muscular rigidity, and other signs of catatonia may reflect drug overdose, an acute delirium, or the subacute stage of viral encephalitis. The misdiagnosis of an underlying medical condition as a psychiatric disorder can have fatal results. A mental status examination, a thorough neurologic evaluation, and appropriate laboratory and cerebrospinal fluid tests may be necessary to identify the cause of the catatonic condition.     

Neuropsychological Profile of Italian Children and Adolescents with 22q11.2 Deletion Syndrome with and Without Intellectual Disability

As individuals with chromosome 22q11.2 deletion syndrome (22q11DS) show a wide range of IQs, intellectual heterogeneity could mask the neuropsychological profile of the syndrome. This study was designed to identify specific neuropsychological features of children and adolescents with 22q11DS by taking into account the possible source of variability deriving from intellectual disability (ID). First, we compared several neuropsychological domains involving linguistic, visual-motor/visual-perceptual and memory abilities in 34 children and adolescents with 22q11DS and 83 mental age-matched typically developing (TD) participants. Then, we selected participants with 22q11DS according to whether or not they had ID and compared their neuropsychological profiles with those of chronological age-matched TD controls. Although language and several aspects of memory have been found impaired only in children with 22q11DS with ID, deficits in visual-spatial abilities and visual-object short-term memory persist in participants without ID and might be considered a characteristic of 22q11DS, not just related to the presence of ID. On the basis of our findings, children and adolescents with 22q11DS cannot be considered as a single group with a homogeneous neuropsychological profile and must be studied in relation to their global intellectual abilities.     

Cortical and subcortical diseases: Do true neuropsychological differences exist?

Previous work examining the cortical-subcortical distinction as it relates to cognitive patterns has not typically used genetic confirmation to identify these groups, controlled for age, or used a comprehensive battery to assess specific cognitive abilities. The present study is the first to include only genetically confirmed Familial Alzheimer's disease (FAD) and Huntington's disease (HD) patients to evaluate this distinction. Ten patients with FAD, 11 patients with HD, and 17 matched healthy individuals were compared on a comprehensive neuropsychological battery that included tasks of language, memory, attention, visual-spatial, and executive function. The only neuropsychological measures to differentiate the two clinical groups were Animal Fluency and Letter Fluency; performance on all other measures did not differ. Although the neuropsychological battery adequately distinguished between clinical and healthy individuals, it was not useful to further differentiate the cortical or subcortical nature of the disease. FAD and HD appear to have similar neuropsychological profiles; therefore the cortical versus subcortical cognitive distinction may not be clinically meaningful.     

Motor and cognitive aspects of motor retardation in depression

BACKGROUND: Motor retardation is a common feature of major depressive disorder having potential prognostic and etiopathological significance. According to DSM-IV, depressed patients who meet criteria for psychomotor retardation, must exhibit motor slowing of sufficient severity to be observed by others. However, overt presentations of motor slowing cannot distinguish slowness due to cognitive factors from slowness due to neuromotor disturbances. METHODS: We examined cognitive and neuromotor aspects of motor slowing in 36 depressed patients to test the hypothesis that a significant proportion of patients exhibit motor programming disturbances in addition to psychomotor impairment. A novel instrumental technique was used to assess motor programming in terms of the subject's ability to program movement velocity as a function of movement distance. A traditional psychomotor battery was combined with an instrumental measure of reaction time to assess the cognitive aspects of motor retardation. RESULTS: The depressed patients exhibited significant impairment on the velocity scaling measure and longer reaction times compared with nondepressed controls. Approximately 40% of the patients demonstrated abnormal psychomotor function as measured by the traditional battery; whereas over 60% exhibited some form of motor slowing as measured by the instruments. Approximately 40% of the patients exhibited parkinsonian-like motor programming deficits. A five-factor model consisting of motor measures predicted diagnosis among bipolar and unipolar depressed patients with 100% accuracy. LIMITATIONS: The ability of motor measures to discriminate bipolar from unipolar patients must be viewed with caution considering the relatively small sample size of bipolar patients. CONCLUSIONS: These findings suggest that a subgroup of depressed patients exhibit motor retardation that is behaviorally similar to parkinsonian bradykinesia and may stem from a similar disruption within the basal ganglia.     

Serotonergic and cognitive impairment in impulsive aggressive personality disordered offenders: are there implications for treatment?

BACKGROUND: Reduced serotonin (5-HT) function and deficits on neuropsychological tasks have been separately reported in antisocial populations. We investigated whether these impairments are independent or associated factors underlying impulsivity in aggressive personality disordered (PD) offenders and healthy controls and whether there are associated changes in quantitative brain measures. METHODS: This study reports on the findings from a sample of 51 PD offenders and 24 controls, recruited from maximum security psychiatric hospitals, who were characterized using the Special Hospital Assessment of Personality and Socialisation (SHAPS). Subjects underwent assessment of 5-HT function (prolactin response to D-fenfluramine challenge), neuropsychological testing and had a diagnostic MRI scan. Of this sample 19 controls and 24 patients also had quantitative measurement of frontal and temporal lobe volumes on magnetic resonance imaging (MRI). RESULTS: Non-psychopathic (low-impulsive) aggressive PDs had enhanced 5-HT function compared with controls and highly impulsive aggressive psychopaths. Primary and secondary psychopaths had poorer executive/frontal, but not memory/temporal neuropsychological function than controls and non-psychopaths. There were no significant group differences in frontal or temporal lobe brain volumes. Although impulsivity and aggression are correlated constructs impulsivity appeared to be related to both executive function and 5-HT function, while aggression only correlated inversely with executive/frontal and memory/temporal function. 5-HT did not directly correlate with frontal or temporal volume or function. CONCLUSION: Impulsivity appears to be contributed to by both impaired neuropsychological function and 5-HT function. Impaired neuropsychological function alone makes a contribution to aggression. Treatment needs to take account of the neuropsychological and biochemical deficits in this challenging population.     

Neuropsychological aspects of Marfan syndrome

We evaluated the neuropsychological status of 13 adult patients with Marfan syndrome. All subjects were administered the same neuropsychological test battery that included nine measures covering a broad range of cognitive abilities such as attention and concentration, learning and memory, and verbal and non-verbal abilities. Compared to a control group of 13 normal healthy subjects matched for sex, age and verbal intelligence, Marfan patients only performed significantly worse on tests measuring sustained visual attention and visuoconstruction. Although these tests use visual material and depend on visual perception and processing, the visual acuity problems associated with the syndrome could not explain these differences, nor could the use of beta-blocking medication or the presence of joint hypermobility. The findings suggest that problems with sustained visual attention and visuoconstruction may be present in Marfan syndrome over and above visual acuity problems and other phenomena associated with the disease. Further research on the neuropsychological aspects of Marfan syndrome is needed, using larger patient groups and more adequate control groups such as non-affected siblings and matched controls with similar visual impairment.     

Psychomotor slowing in hepatitis C and HIV infection

BACKGROUND: Both HIV and hepatitis C virus (HCV) may enter the central nervous system and cause cognitive and/or motor dysfunction. There are limited data on cognition and no data on motor performance in HIV/HCV-coinfected patients. OBJECTIVE: To provide data on cognition and motor performance in HIV/HCV infected patients. METHODS: We compared 43 HIV-seropositive but HCV-seronegative patients, 43 HIV/HCV-coinfected patients, and 44 HIV-negative but HCV-positive patients, all of whom went through neuropsychologic testing and electrophysiologic assessment of basal ganglia-mediated motor function. RESULTS: No significant differences could be found among the groups with regard to premorbid verbal and actual nonverbal intelligence, attention, and memory; the HIV dementia scale; and all somatic and most psychiatric complaints. Affective disorders were less frequent in HIV-negative but HCV-positive patients. This group also scored lower for depression. For all 3 groups, significant pathologic slowing of most rapid alternating movements (right hand) compared with those of HIV/HCV-negative controls as well as significantly prolonged contraction times (both hands) could be diagnosed. Simple reaction times were significantly prolonged only in HIV/HCV-coinfected patients. CONCLUSIONS: Although clinically asymptomatic, both HIV-positive and HCV-positive patients may show affective disturbances and significant psychomotor slowing. A potential predictive value for the further course of infection, which is well established in HIV-positive patients, remains to be investigated in HCV-positive or HIV/HCV-coinfected patients.     

肝硬化患者的神经心理功能障碍研究

目的：探讨肝硬化患者的神经心理功能障碍及其特征,为诊断亚临床肝性脑病提供科学依据和检测手段。方法：采用几种神经心理检测对６９例肝硬化患者、６５例脑肿瘤患者及６２名正常人进行测试。结果：三组被试各测验组间比较均有显著性差异（Ｐ〈０．００１）;组间两两比较显示,绝大多数测验成绩正常组优于其它两组（Ｐ〈０．０５０;而肝病组和脑病组的成绩相比,只有少数几个变量（相似性测验、第四例外的全误、木图测验）肝病组优于脑病组（Ｐ〈０．０５）,其余测验成绩两组比较无显著性差异（Ｐ〉０．０５）。结论：亚临床肝性脑病存在分析综合、抽象概括、概念化思维、心理灵活性、心理运动速度、知觉－运动协调和视觉空间等神经心理功能障碍,其严重程度的许多方面和脑肿瘤患者无明显差异。     

Major Differences in Subjective Experience of Akinetic States in Catatonic and Parkinsonian Patients

Both catatonic and parkinsonian patients show severe motor deficits such as complete akinesia. In contrast to Parkinson's disease, mechanisms of akinetic states in catatonia remain unclear. In an attempt to define catatonic akinesia in a more detailed way we investigated subjective experience in 22 akinetic catatonic patients comparing them with 22 major depressive, 22 paranoid schizophrenic, 22 residual schizophrenic, and 22 akinetic parkinsonian patients. Catatonic patients were diagnosed according to standardised criteria. They were treated exclusively with lorazepam (2-4mg) during the first 24 hours and, according to their response on day 1, they were divided into responders and nonresponders. Subjective experience was investigated with a self-rated questionnaire, developed by us, for the subjective experience of psychological and motor functions in an acute akinetic state. Catatonic patients differed significantly in their subjective experience from parkinsonian, depressive, and schizophrenic patients. Unlike parkinsonian patients, catatonics were not fully aware of their severe deficits in motor execution. In contrast to catatonic nonresponders to lorazepam, lorazepam-responders were characterised by intense and overwhelming emotional experiences. Subjective experience of akinesia seems to differ fundamentally between catatonic and parkinsonian patients as well as between catatonic responders and nonresponders to lorazepam.