Neuropsychological Profile Of Individuals Research Articles

A - 64 The Neuropsychology of Lost Person Behavior: Case Studies of Lost Persons with Substance Intoxication, Dementia, and Intact Cognitive Status.

The location of lost persons by Search and Rescue teams is often achieved through statistical analyses based on previous cases, however, the impact of neuropsychological functioning on the behavior of lost persons has not been explored. Information about how the neuropsychological profile of various lost persons can inform the behavior of those persons will substantially assist Search and Rescue efforts. This poster examines 3 case studies of lost persons: an individual with dementia lost in a small city, an intoxicated man in his 20s lost in the woods, and a cognitively intact middle-aged man lost at the top of a mountain. The author describes each case and how the neuropsychological profile of a person with dementia, an intoxicated individual, and a person without cognitive deficits can inform lost person behavior. The poster highlights key factors in identifying how neuropsychological functioning in various profiles will influence how the lost person behaves. The results of the lost person behavior and their executive functioning profiles are compared and contrasted. The author provides information about how neuropsychological profile of individuals with dementia, intoxication, and intact functioning influence how these persons behave when lost. This information may be used to assist Search and Rescue teams in more quickly and efficiently finding lost persons.

Executive functioning in adolescents and adults with Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Knowledge of the neuropsychological profile of SRS remains sparse and incomplete even if several difficulties related to attention and learning have been reported both in the literature and by patients with SRS. These difficulties could be the result of troubles in different cognitive domains, but also of executive dysfunction. Nevertheless, executive functioning has never been investigated, even though executive functions play an essential role in psychological development, and are extensively involved in daily life. The present study explored the executive functioning of individuals with SRS due to UPD(7)mat or 11p15 LOM. A battery of executive tasks assessing cognitive flexibility, inhibitory control, and working memory, together with a task assessing sustained attention, was administered to 19 individuals with SRS (13-39 years) and 19 healthy controls. The Behavior Rating Inventory of Executive Function was also completed by the participants' families. The results showed that participants with SRS had similar performance (z-scores) to our controls, in a context of normal intellectual efficiency. Group comparisons with Bayesian statistics showed a single difference between the 11p15 LOM and control groups: the completion time for part A of the Trail Making Test appeared to be longer in the 11p15 LOM group than in the control group. However, at the clinical level, several participants with SRS had clinically significant scores on various measures of EFs. Thus, the cognitive phenotype of SRS did not appear to be characterized by executive dysfunction, but individuals with SRS could be at high risk of developing executive dysfunction or attention-deficit/hyperactivity disorder. These results provide new insights into the neuropsychological profile of individuals with SRS.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

PurposeRare genetic variants in CDK13 are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. In this paper, we report 18 novel individuals with CDK13-RD and provide characterization of genome-wide DNA methylation. MethodsWe obtained clinical phenotype and neuropsychological data for 18 and 10 individuals, respectively, and compared this series with the literature. We also compared peripheral blood DNA methylation profiles in individuals with CDK13-RD, controls, and other neurodevelopmental disorders episignatures. Finally, we developed a support vector machine–based classifier distinguishing CDK13-RD and non–CDK13-RD samples. ResultsWe reported health and developmental parameters, clinical data, and neuropsychological profile of individuals with CDK13-RD. Genome-wide differential methylation analysis revealed a global hypomethylated profile in individuals with CDK13-RD in a highly sensitive and specific model that could aid in reclassifying variants of uncertain significance. ConclusionWe describe the novel features such as anxiety disorder, cryptorchidism, and disrupted sleep in CDK13-RD. We define a CDK13-RD DNA methylation episignature as a diagnostic tool and a defining functional feature of the evolving clinical presentation of this disorder. We also show overlap of the CDK13 DNA methylation profile in an individual with a functionally and clinically related CCNK-related disorder.

Mild Cognitive Impairment in Retired Professional Football Players With a History of Mild Traumatic Brain Injury: A Pilot Investigation

Traumatic brain injury (TBI) is a known risk factor for neurodegenerative dementias such as Alzheimer disease (AD); however, the potential risk of mild cases of TBI, such as concussions, remains unclear. To explore whether a small sample of retired professional athletes with a diagnosis of mild cognitive impairment (MCI)-the prodromal stage of AD-and a history of multiple mild TBIs exhibit greater neuropsychological impairment than age-matched nonathletes with MCI and no history of TBI. Ten retired National Football League players diagnosed with MCI and reporting multiple mild TBIs, and 10 nonathletes, also diagnosed with MCI but with no history of TBI, completed a standard neurologic examination and neuropsychological testing. Independent samples t tests were conducted to examine differences in neuropsychological performance between the two groups. The retired athletes with a history of mild TBI obtained generally similar scores to the nonathlete controls on measures of verbal learning and memory, verbal fluency, and processing speed. However, the retired athletes scored lower than the controls on tests of confrontation naming and speeded visual attention. Retired athletes with MCI and a history of mild TBI demonstrated similar neuropsychological profiles as nonathlete controls despite lower scores on measures of confrontation naming and speeded visual attention. These findings suggest that a history of multiple mild TBIs does not significantly alter the overall neuropsychological profile of individuals with MCI; confirmation of this will require longitudinal research with larger sample sizes.

Cognitive and behavioral profile of Perry syndrome in two families

ObjectivePerry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented. MethodsDetailed clinical and neuropsychological data were obtained from Polish and Colombian families. Clinical and neuropsychological examinations on the proband from the Polish family were performed 6 times over 11 years. Each of 3 individuals from the Colombian family received a clinical and neuropsychological assessment. ResultsThe neurologic examination showed severe parkinsonism, levodopa-induced motor fluctuations, and dyskinesias in all cases. Respiratory insufficiency was observed in 2 patients and weight loss in 1 individual. Neuropsychological assessment revealed predominant deterioration of working memory and learning capacity in the Polish patient. He also demonstrated compulsive behaviors, such as excessive shopping and eating, but only in the “on” phase. In the Colombian family, attentional deficits were present in 2 out of 3 cases. Out of 4 reported cases apathy and depressed mood were present in 2 individuals. Two cases demonstrated impulsivity and one had episodes of hypomania. ConclusionsBoth of these families revealed relatively similar neurologic and neuropsychological profiles. The Polish patient's behavioral and neuropsychological profile was mostly compatible with a behavioral variant of frontotemporal dementia. Of note, not only depression and apathy, but also impulsivity can occur in PS.

Individual neuropsychological profiles at age 5½ years in children born preterm in relation to medical risk factors

Follow-up studies of preterm children have reported a range of cognitive deficits, particularly in executive functions, visuospatial abilities, and learning. However, few researchers have adopted a person-oriented approach, exploring individual neuropsychological profiles. The aim of this study was to identify typical neuropsychological profiles among preterm children and control children, respectively. A second aim was to investigate if neuropsychological profiles at age 5½ might be associated with perinatal medical risk factors. As part of the longitudinal Stockholm Neonatal Project, NEPSY for 4- to 7-year-old children (Korkman, 1990), WPPSI-R, and Movement ABC were administered at age 5½ years to 145 preterm (mean gestational age 28 weeks) and 117 control children born at term. For the present study, the NEPSY results of each child were transformed into summary z scores for each of 5 neuropsychological domains: attention, memory, sensory-motor, verbal, and visuospatial functions. Subsequently, Ward's cluster analysis was performed for the preterm and control groups separately, identifying 5 neuropsychological profiles in both groups explaining around 56% and 57% of the variance, respectively. Overall, preterm children had lower neuropsychological results but also more diverging profiles compared to controls. The variability in outcome could not be sufficiently explained by birth weight, gestational age, or medical risks. The results suggest that prematurity interacts dynamically with genetic, medical, and environmental factors in neuropsychological development.

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.

Developmental evaluation at age 4: Validity of an Italian parental questionnaire

To validate an Italian parental questionnaire designed to evaluate the neuropsychological and behavioural developmental status of 4-year-olds and identify children in need of further evaluation. The questionnaire (Questionario per la valutazione dello Sviluppo di bambini a 4 anni - Genitori (QS4-G) ) consisted of 93 questions divided into 10 areas: language, visual-motor abilities, memory/attention, fine and gross motor and self-help abilities, lateralisation, social skills, stress, sleep, alimentation and evacuation. It was distributed to 263 parents of 4-year-olds: 94 healthy preterm (gestational age <33 weeks and/or <1500 g, without major neurosensory damage); 44 children with developmental disorders and 125 children with typical development. Cognitive and neuropsychological evaluations were performed using standardised tests. The internal consistency of the areas was adequate (Cronbach's alpha: 0.69-0.79). The correlation coefficients (r=|0.30|-|0.68|) with standardised tests (Griffiths, Vineland and neuropsychological tests) indicated a good concurrent validity. The receiver operating characteristic curve, for predicting a Griffiths Quotient less than 81, showed an area under the curve of 0.90 and a high diagnostic and discriminatory capacity (sensitivity of 0.88 and specificity of 0.84) for the optimal cut-off (value 48.4). The QS4-G seems to be a valid tool for identifying 4-year-old children at risk for low or borderline cognitive development and/or problematic behaviour who need a complete assessment. It can describe individual neuropsychological profiles. QS4-G is not a diagnostic tool. It is useful for outcome studies in preterm children and in other pathologies. It could also be useful for preschooler prevention programmes.

Social conceptual impairments in frontotemporal lobar degeneration with right anterior temporal hypometabolism

Inappropriate social behaviours are early and distinctive symptoms of the temporal and frontal variants of frontotemporal lobar degeneration (FTLD). Knowledge of social behaviour is essential for appropriate social conduct. It is unknown, however, in what way this knowledge is degraded in FTLD. In a recent functional MRI study, we have identified a right-lateralized superior anterior temporal lobe (aTL) region showing selective activation for 'social concepts' (i.e. concepts describing social behaviour: e.g. 'polite', 'stingy') as compared with concepts describing less socially relevant animal behaviour ('animal function concepts': e.g. 'trainable', 'nutritious'). In a further fMRI study, superior aTL activation was independent of the context of actions and feelings associated with these social concepts. Here, we investigated whether the right superior sector of the aTL is necessary for context-independent knowledge of social concepts. We assessed neuronal glucose uptake using 18-fluoro-deoxy-glucose-positron emission tomography (FDG-PET) and a novel semantic discrimination task which probed knowledge of social and animal function concepts in patients with FTLD (n = 29) and corticobasal syndrome (n = 18). FTLD and corticobasal syndrome groups performed equally poorly on animal function concepts but FTLD patients showed more pronounced impairments on social concepts than corticobasal syndrome patients. FTLD patients with right superior aTL hypometabolism, as determined on individual ROI analyses, were significantly more impaired on social concepts than on animal function concepts. FTLD patients with selective impairments for social concepts, as determined on individual neuropsychological profiles, showed higher levels of inappropriate social behaviours ('disinhibition') and demonstrated more pronounced hypometabolism in the right superior aTL, the left temporal pole and the right lateral orbitofrontal and dorsomedial prefrontal cortex as compared with FTLD patients showing selective impairments of animal function concepts. Combining both FTLD subgroup analyses, based on anatomical and neuropsychological criteria, by using inclusive masks, revealed the right superior aTL as associated with selective impairments of social concepts in both analyses. These results corroborate the hypothesis that the right aTL is necessary for representing conceptual social knowledge. Further, we provide first evidence for the potential importance of conceptual social knowledge impairments as contributing to behavioural symptoms of FTLD.

Neuropsychological dysfunction in bipolar affective disorder: a critical opinion

Data from the imaging literature have led to suggestions that permanent structural brain changes may be associated with bipolar disorder. Individuals diagnosed with bipolar disorder display deficits on a range of neuropsychological tasks in both the acute and euthymic phases of illness, and correlations between experienced number of affective episodes and task performance are commonly reported. These findings have renewed interest in the neuropsychological profile of individuals with bipolar disorder, with deficits of attention, learning and memory, and executive function, asserted to be present. This paper critically reviews five different potential causes of neurocognitive dysfunction in bipolar disorder: (i) iatrogenic, (ii) acute functional changes associated with depression or mania, (iii) permanent structural lesions of a neurodegenerative origin, (iv) permanent structural lesions that are neurodevelopmental in origin, and (v) permanent functional changes that are most likely genetic in origin. Although the potential cognitive effects of residual symptomatology and long-term medication use cannot be entirely excluded, we conclude that functional changes associated with genetically driven population variation in critical neural networks underpin both the neurocognitive and affective symptoms of bipolar disorder. The philosophical implications of this conclusion for neuropsychology are briefly discussed.

P1-084 Neuropsychological profile of individuals with mild cognitive impairment using the cogtest computerised assessment system

P1-084 Neuropsychological profile of individuals with mild cognitive impairment using the cogtest computerised assessment system

Heterogeneity of schizophrenia: a study of individual neuropsychological profiles

Based on a strategy developed by Seidman et al. (Seidman, L.J., Faraone, S.V., Kremen, W.S., Pepple, J.R., Lyons, M.J., Tsuang, M.T., 1993. Neuropsychological dysfunctions in the non-psychotic first-degree relatives of schizophrenic patients, Poster presented at the annual meeting of the Society for Research and Psychopathology. Chicago, IL) we examined neuropsychological heterogeneity in schizophrenia using clinical neuropsychological descriptions of individual cases as the starting point. We blindly rated neuropsychological profiles of 74 schizophrenia patients and 91 normal controls based primarily on prototypes from the clinical literature in neuropsychology. Patients were classified as having the following profile types: within normal limits (WNL) (23%, n=17), frontal/abstraction (46%, n=34), widespread/diffuse (14%, n=10), left temporal/verbal memory (8%, n=6) and other (9%, n=7). As expected based on our classification scheme, the groups had different profile shapes (group×function interactions). They were also significantly different from one another in terms of overall severity (main effects); however, severity differences were not inherent in the definition of all groups. Longer duration of illness and greater overall cognitive impairment were observed as one went from the left temporal to the frontal to the widespread groups. Longitudinal studies are needed to determine whether the different neuropsychological profiles reflect true subgroup differences or within-person change over time. Further research—probably including neuroimaging and genetic studies—will also be needed to determine the validity and the utility of this strategy for identifying neuropsychological profile types.

The paradox of normal neuropsychological function in schizophrenia.

Mounting evidence suggests that compromised neurocognitive function is a core feature of schizophrenia. However, some studies have found neuropsychologically normal schizophrenia patients. To address this apparent contradiction, we blindly rated individual neuropsychological profiles of 75 schizophrenia patients and 91 control participants on the basis of methods developed by L. J. Seidman, S. V. Faraone, W. S. Kremen, J. R. Pepple, M. J. Lyons, and M. T. Tsuang (1993). Almost one-quarter of the patients were classified as neuropsychologically within normal limits (WNL). Despite significantly worse neuropsychological performance, WNL patients had higher estimated premorbid ability than did controls. Compared to a subset of controls matched on overall neuropsychological function, WNL patients had higher estimated premorbid ability and current IQs. Our results favor the view that even neuropsychologically normal schizophrenia patients have compromised cognitive function relative to their presumed expected or premorbid level of intellectual ability.

The paradox of normal neuropsychological function in schizophrenia.

Mounting evidence suggests that compromised neurocognitive function is a core feature of schizophrenia. However, some studies have found neuropsychologically normal schizophrenia patients. To address this apparent contradiction, we blindly rated individual neuropsychological profiles of 75 schizophrenia patients and 91 control participants on the basis of methods developed by L. J. Seidman, S. V. Faraone, W. S. Kremen, J. R. Pepple, M. J. Lyons, and M. T. Tsuang (1993). Almost one-quarter of the patients were classified as neuropsychologically within normal limits (WNL). Despite significantly worse neuropsychological performance, WNL patients had higher estimated premorbid ability than did controls. Compared to a subset of controls matched on overall neuropsychological function, WNL patients had higher estimated premorbid ability and current IQs. Our results favor the view that even neuropsychologically normal schizophrenia patients have compromised cognitive function relative to their presumed expected or premorbid level of intellectual ability.