Correlating MRI-Based Brain Volumetry and Cognitive Assessment in Down Syndrome Patients

INTRODUCTIONDown syndrome (DS) is the most common genetic cause of intellectual disability. Children and adults with DS show deficits in various aspects of language performance and explicit memory. Here we use magnetic resonance imaging (MRI) on children and adults with DS to characterize changes in the volume of specific brain structures involved in memory and language and their relationship to features of cognitive-behavioral phenotypes.METHODSThirteen children and adults with the DS phenotype and 12 age- and gender-matched healthy controls were analyzed by MRI and underwent a psychological evaluation for language and cognitive abilities.RESULTSThe neuropsychological profile of DS patients showed deficits in different cognition and language domains in correlation with reduced volumes of specific regional and subregional brain structures. Intriguingly, our DS patients showed also a reduced parahippocampal gyrus volume, in contrast with the results found by other researchers.CONCLUSIONSThe memory functions and language skills affected in our DS patients correlate significantly with the reduced volume of specific brain regions, allowing us to understand DS's cognitive-behavioral phenotype. Our results provide an essential basis for early intervention and the design of rehabilitation management protocols.

Characterization of cognitive impairment in adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD.

Correlating MRI-Based Brain Volumetry and Cognitive Assessment in Down Syndrome Patients

INTRODUCTION: Down syndrome (DS) is the most common genetic cause of intellectual disability. Here, we use magnetic resonance imaging (MRI) on children and adults with DS to characterize changes in the volume of specific brain structures involved in memory and language and their relationship to features of cognitive-behavioral phenotypes.METHODS: Thirteen children and adults with the DS phenotype and 12 age- and gender-matched healthy controls were analyzed by MRI and underwent a psychological evaluation for language and cognitive abilities.RESULTS: The neuropsychological profile of DS patients showed deficits in different cognition and language domains in correlation with reduced volumes of specific regional and subregional brain structures.CONCLUSIONS: The memory functions and language skills affected in our DS patients correlate significantly with the reduced volume of specific brain regions, allowing us to understand DS's cognitive-behavioral phenotype. Our results provide an essential basis for early intervention and the design of rehabilitation management protocols.

Neuropsychological Profile in Pediatric Migraine without Aura: A Pilot Study

Despite the high prevalence of headache in developmental age, current reports about its neuropsychological effects are still lacking. The aim of the present pilot study is to assess the neuropsychological skills among children affected by migraine without aura (MwoA). Fifteen children (7M/8F) (mean age 10.73 ± 2.13) with MwoA, consecutively referred to the Center for Childhood Headache at Università degli Studi della Campania “Luigi Vanvitelli”, underwent the Italian version of the NEPSY-2 after cognitive evaluation. Moreover, to assess the pain level and disability grade during daily activity, the VAS and PedMIDAS scales were used. MwoA children were comparable with the control group of 38 children with respect to age, gender, language, and education level. Written informed consent was obtained from all parents and from children directly, when appropriate. MwoA children differed from controls significantly among the NEPSY-2 subscales, with a relevant relationship between the frequency and intensity of the attacks. In conclusion, the results of the present pilot study may suggest that MwoA could impact significantly neuropsychological functioning in children.

Tit for tat: costly punishment in manifest Huntington’s disease

Objective: We aimed to investigate costly punishment in patients with HD. Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease with motor, cognitive, and psychiatric symptoms. As neuropsychiatric abnormalities often precede motor symptoms, we wanted to assess whether costly punishment is part of the neuropsychological profile of patients with HD. Methods: A total of 40 non demented subjects were prospectively enrolled in this study with a between-subject design comparing manifest HD patients (n=18) to healthy controls (HC; n=22). All participants performed eight rounds of a costly punishment task, in which money was shared unevenly in 5 rounds or in a fair manner in the remaining three rounds. Participants then had to decide whether they wanted to punish the trustee. Furthermore, all participants underwent neuropsychological background tasks. Results: HD patients performed worse in the neuropsychological background tests compared to HC (all p-values<0.05). Moreover, HD patients punished more often in fair (Wald x2=5.03, p=0.025) but not in unfair rounds (Wald x2=1.63, p=0.202). Conclusions: Our results demonstrate increased costly punishment during fair conditions in HD patients. Whether this behaviour is due to a lack of recognition of social norms, an impairment in top-down inhibition, or an effect of anti-dopaminergic medication remains unclear.

The role of neuropsychological examination in the diagnosis and treatment of adult patients with epilepsy

Individuals with epilepsy may experience various difficulties in cognitive and emotional functioning. The neuropsychological examination plays a significant role in the diagnosis and management of patients with epilepsy. It should be conducted by psychologists with appropriate competencies and experience, preferably by specialists who have undergone dedicated training in clinical psychology and gained clinical experience with neurological patients. Conclusions from neuropsychological examination provide information about the influence of epilepsy on cognitive and behavioral functioning of the patient. Neuropsychological assessment enables delineating the neuropsychological profile, including the description of the type and level of cognitive deficits, as well as examining the emotional state and psychosocial functioning of patients. Neuropsychological evaluation plays an important part in qualifying patients with epilepsy for neurosurgical treatment, and helps in the process of monitoring the state of patients in terms of postsurgical outcomes. In this paper, the authors present the aims of neuropsychological assessment in patients with epilepsy. Various factors are listed that can affect the profile of cognitive and emotional functioning of patients during the examination. On the basis of guidelines formulated by experts of the International League Against Epilepsy, the indications for neuropsychological examination are described, and the core cognitive and emotional dimensions that should be evaluated are presented. A list of psychometric tests and clinicalexperimental tasks addressing cognitive functions as well as a selection of tools assessing the emotional state that are available and used in Poland are also provided.

Neuropsychological Impairments and Their Cognitive Architecture in Mild Cognitive Impairment (MCI) with Lewy Bodies and MCI-Alzheimer’s Disease

Objective: The present study aimed to clarify the neuropsychological profile of the emergent diagnostic category of Mild Cognitive Impairment with Lewy bodies (MCI-LB) and determine whether domain-specific impairments such as in memory were related to deficits in domain-general cognitive processes (executive function or processing speed). Method: Patients (n = 83) and healthy age- and sex-matched controls (n = 34) underwent clinical and imaging assessments. Probable MCI-LB (n = 44) and MCI-Alzheimer’s disease (AD) (n = 39) were diagnosed following National Institute on Aging-Alzheimer’s Association (NIA-AA) and dementia with Lewy bodies (DLB) consortium criteria. Neuropsychological measures included cognitive and psychomotor speed, executive function, working memory, and verbal and visuospatial recall. Results: MCI-LB scored significantly lower than MCI-AD on processing speed [Trail Making Test B: p = .03, g = .45; Digit Symbol Substitution Test (DSST): p = .04, g = .47; DSST Error Check: p < .001, g = .68] and executive function [Trail Making Test Ratio (A/B): p = .04, g = .52] tasks. MCI-AD performed worse than MCI-LB on memory tasks, specifically visuospatial (Modified Taylor Complex Figure: p = .01, g = .46) and verbal (Rey Auditory Verbal Learning Test: p = .04, g = .42) delayed recall measures. Stepwise discriminant analysis correctly classified the subtype in 65.1% of MCI patients (72.7% specificity, 56.4% sensitivity). Processing speed accounted for more group-associated variance in visuospatial and verbal memory in both MCI subtypes than executive function, while no significant relationships between measures were observed in controls (all ps > .05) Conclusions: MCI-LB was characterized by executive dysfunction and slowed processing speed but did not show the visuospatial dysfunction expected, while MCI-AD displayed an amnestic profile. However, there was considerable neuropsychological profile overlap and processing speed mediated performance in both MCI subtypes.

Cortical Hyper-Connectivity in a Stroke Patient with Rotated Drawing

In the present case report, we investigated the cortical networks of a patient (DDA) affected by right parietal stroke who showed a constructional phenomenon, in which when coping and recalling from memory a complex figure, the model was reproduced rotated of 90° along the vertical axis. Previous studies suggested that rotation on copy is associated with visuospatial impairments and abnormalities in parietal cortex, whereas rotation on recall might be related to executive deficits and dysfunction of frontal regions. Here, we computed the DDA’s resting-state functional connectivity (FC) derived from cortical regions of the dorsal attention (DAN) and the frontal portion of the executive-control network (fECN), which are involved in the control of visuospatial attention and multiple executive functions, respectively. We observed that, as compared to a control group of right stroke patients without drawing rotation, DDA exhibited selective increased FC of the DAN and fECN, but not of task-irrelevant language network, within the undamaged hemisphere. These patterns might reflect a pathological communication in such networks leading to impaired attentional and executive operations required to reproduce the model in the correct orientation. Notably, such enhancement of FC was not detected in a patient with a comparable neuropsychological profile as DDA, yet without rotated drawing, suggesting that network-specific modulations in DDA might be ascribed to the constructional phenomenon of rotated drawing.