Cognitive Profiles and Brain Volume Are Affected in Patients with Silver–Russell Syndrome

2019 ◽  
Vol 105 (4) ◽  
pp. e1478-e1488
Author(s):  
Giuseppa Patti ◽  
Letizia De Mori ◽  
Domenico Tortora ◽  
Mariasavina Severino ◽  
Mariagrazia Calevo ◽  
...  
Keyword(s):  
Cognitive Function ◽  
Cognitive Assessment ◽  
Brain Volume ◽  
Uniparental Disomy ◽  
Control Group ◽  
Aged Patients ◽  
Brain Volumes ◽  
Chromosome 11P15 ◽  
Globi Pallidi ◽  
Silver Russell Syndrome

Abstract Context There is little information on cognitive function in Silver–Russell syndrome (SRS), and no neuroimaging studies are available so far. Objective To assess cognitive function and brain volumes in patients with SRS. Design/Setting Wechsler Intelligence Scale and brain magnetic resonance on a 3-Tesla scanner with Voxel-based morphometry analysis were performed between 2016 and 2018 in a single tertiary university center. Partecipants 38 white subjects with clinical diagnosis of SRS confirmed by molecular analysis: 30 of these patients (mean age 12.6 ± 10 years) were enrolled for cognitive assessment; 23 of the 30 performed neuroimaging sequences. A control group of 33 school-aged children performed cognitive assessment while 65 age and sex-matched volunteers were included for the neuroradiological assessment. Main Outcomes Intelligence quotient, Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI), Processing Speed Index, and brain volume. Results The mean overall IQ score was 87.2 ± 17, and it was significantly lower in the maternal uniparental disomy of chromosome 7 (mUPD7) group at the age of 6 to 16 years compared to loss of methylation on chromosome 11p15 (11p15 LOM) group and to controls. VCI, PRI, and WMI were significantly higher in 11p15 LOM group and in control group than in mUPD7 group at the age of 6 to 16 years. There were no significant differences in cognitive scores between 11p15 LOM school-aged patients and the control group. SRS patients showed lower brain volume compared to controls at the frontal/temporal poles and globi pallidi. Conclusions Patients with mUPD7 had an impaired cognitive profile. The brain volume at the frontal/temporal lobes and at the globi pallidi was reduced in patients with SRS.

scholarly journals Features of the clinical picture in patients of middle age with essential hypertension

2018 ◽  
Vol 90 (9) ◽  
pp. 15-26 ◽  
Author(s):  
V A Parfenov ◽  
T M Ostroumova ◽  
O D Ostroumova ◽  
E E Pavleyva
Keyword(s):  
Healthy Volunteers ◽  
Cognitive Assessment ◽  
Sleep Disturbances ◽  
Rating Scales ◽  
Memory Loss ◽  
Learning Task ◽  
Control Group ◽  
Level Control ◽  
Aged Patients ◽  
Treatment Naïve

Aim. To evaluate the presence and the severity of the complaints (headache, dizziness, memory loss, concentration of attention, sleep disturbances, decreased mood, increased anxiety), the state of cognitive functions, emotional status and quality of night sleep in treatment-naïve middle-aged patients with mild to moderate EAH compared to healthy volunteers of the same age. Materials and methods. 103 treatment-naïve patients with EAH aged 40-59 years at the enrollment, who met the inclusion/exclusion criteria and provided written informed consent (46 men, mean age 53.6±0.8 years) and 50 healthy volunteers (17 men, mean age 51.5±1.0 years) with normal blood pressure (BP) level - control group - were enrolled to the study. Mean EAH duration was 2.9±5.7 years. Cognitive assessment included Montreal cognitive assessment, 10-words learning task, verbal fluency test, TMT, Stroop color and word test. Anxiety and depression were evaluated via Hamilton rating scales (HARS and HDRS). 24-hours ambulatory BP monitoring (ABPM) was performed according to European guidelines. Results. 70% of patients with EAH complained of memory disturbance, 68% - lack of attention, 22% - sleep disturbances, 12% - dizziness, 9% - headache. It took statistically significant more time for patients with EAH to perform on TMT B (p

scholarly journals Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1461
Author(s):  
Yerai Vado ◽  
Arrate Pereda ◽  
Isabel Llano-Rivas ◽  
Nerea Gorria-Redondo ◽  
Ignacio Díez ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Genetic Disorder ◽  
Panel Study ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Triangular Face ◽  
Chromosome 11P15 ◽  
Postnatal Growth Retardation ◽  
Feeding Difficulties ◽  
Silver Russell Syndrome

Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%). However, pathogenic variants in genes such as CDKN1C, HMGA2, IGF2, or PLAG1 have also been described. Previously, two families and one sporadic case have been reported with PLAG1 alterations. Here, we present a case of a female with clinical suspicion of SRS (i.e., intrauterine and postnatal growth retardation, triangular face, psychomotor delay, speech delay, feeding difficulties). No alterations in methylation or copy number were detected at chromosomes 11p15 and 7 using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The custom panel study by next-generation sequencing (NGS) revealed a frameshift variant in the PLAG1 gene (NM_002655.3:c.551delA; p.(Lys184Serfs *45)). Familial studies confirmed that the variant was inherited from the mother and it was also present in other family members. New evidence of pathogenic alterations in the HMGA2-PLAG1-IGF2 pathway suggest the importance of studying and taking into account these genes as alternative molecular causes of Silver–Russell syndrome.

scholarly journals Virtual Reality-Based Cognitive–Motor Rehabilitation in Older Adults with Mild Cognitive Impairment: A Randomized Controlled Study on Motivation and Cognitive Function

Healthcare ◽  
2020 ◽  
Vol 8 (3) ◽  
pp. 335
Author(s):  
Ji-Su Park ◽  
Young-Jin Jung ◽  
Gihyoun Lee
Keyword(s):  
Older Adults ◽  
Virtual Reality ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Cognitive Function ◽  
Cognitive Assessment ◽  
Cognitive Rehabilitation ◽  
Controlled Study ◽  
Control Group ◽  
Motor Rehabilitation

The purpose of this study was to investigate the effects of virtual reality-based cognitive–motor rehabilitation (VRCMR) on the rehabilitation motivation and cognitive function in older adults. This study enrolled 40 older adults with mild cognitive impairment (MCI), living in the community. The subjects were randomly assigned to a VRCMR group (n = 20) or a conventional cognitive rehabilitation (CCR) group (n = 20). The VRCMR group underwent VRCMR using MOTOcog, a computer recognition program, whereas the CCR group underwent conventional cognitive rehabilitation, which included puzzles, wood blocks, card play, stick construction activity, and maze activity. Both interventions were performed 30 min per day, 5 days/week, for 6 weeks. This study performed a cognitive assessment using the Montreal Cognitive Assessment (MoCA) scale, Trail Making Test A and B (TMT-A/B), and Digit Span Test forward and backward (DST-forward/backward). In addition, a 0-to-10 numeric rating self-report scale was used to assess interest and motivation during the rehabilitation training. After the intervention, the VRCMR group showed a significantly greater improvement in the MoCA (p = 0.045), TMT-A (p = 0.039), TMT-B (p = 0.040), and DST-forward (p = 0.011) scores compared to the CCR group, but not in the DST-backward score (p = 0.424). In addition, subjects in the experimental group had significantly higher interest (p = 0.03) and motivation (p = 0.03) than those in the control group. Cohen’s d effect size was 0.4, 0.3, 0.35, 0.4, and 0.5 for the MoCA, TMT-A, TMT-B, DST-forward, and DST-backward tests, respectively. This study demonstrates that VRCMR enhances motivation for rehabilitation and cognitive function in older adults with MCI better than CCR.

scholarly journals Brain volumes in adults with congenital heart disease correlate with executive function abilities

2021 ◽  
Author(s):  
Nadja Naef ◽  
Ladina Schlosser ◽  
Peter Brugger ◽  
Matthias Greutmann ◽  
Angela Oxenius ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cognitive Function ◽  
Executive Functioning ◽  
Intelligence Quotient ◽  
Congenital Heart ◽  
Brain Volume ◽  
Total Brain Volume ◽  
Brain Volumes ◽  
Total Brain

AbstractCongenital heart disease is the most common birth defect, and patients are at risk for neurodevelopmental impairment and brain abnormalities. Yet, little is known about the link between brain volumes and cognitive function in adults with congenital heart disease. Forty-four patients and 53 controls between 18 and 32 years underwent brain magnetic resonance imaging and cognitive testing, assessed with an intelligence quotient and executive function global score. Associations between brain volumes and cognitive function were calculated using linear models. Cognitive function in patients was within the normal range (intelligence quotient: 97.74 (10.76)). Total brain volume was significantly smaller in patients compared to controls (1067.26 (113.53) vs 1113.04 (97.88) cm3, P < 0.01), irrespective of cardiac factors (heart defect complexity, cyanosis, cardiopulmonary bypass: all P > 0.4). After adjusting for total brain volume, only corpus callosum volume remained significantly smaller (P = 0.03). Smaller total brain volume was associated with poorer overall executive functioning (P = 0.02) and inhibition (P < 0.01), in both patients and controls. The association between total brain volume and overall executive functioning was moderated by parental socioeconomic status (lower socioeconomic status was associated with a stronger association between brain volume and EF; interaction P = 0.03). In adults with congenital heart disease, despite normal intelligence quotient, brain volume alterations persist into adulthood and are related to executive functioning, in particular inhibitory control. Adults coming from low socioeconomic background and with altered brain volumes are especially vulnerable and should thus be followed-up during adulthood to ensure optimal social and educational support.

scholarly journals Brain volume in chronic ketamine users — relationship to sub-threshold psychotic symptoms and relevance to schizophrenia

2021 ◽  
Author(s):  
Robert A. Chesters ◽  
Fiona Pepper ◽  
Celia Morgan ◽  
Jonathan D. Cooper ◽  
Oliver D. Howes ◽  
...  
Keyword(s):  
Grey Matter ◽  
Brain Volume ◽  
Inverse Correlation ◽  
Psychotic Symptoms ◽  
Control Group ◽  
Mri Imaging ◽  
Brain Volumes ◽  
Cohen’S D ◽  
Regional Brain ◽  
Cohen's D

Abstract Rationale Ketamine may model aspects of schizophrenia arising through NMDA receptor activity deficits. Although acute ketamine can induce effects resembling both positive and negative psychotic symptoms, chronic use may be a closer model of idiopathic psychosis. Objectives We tested the hypotheses that ketamine users had lower brain volumes, as measured using MRI, and greater sub-threshold psychotic symptoms relative to a poly-drug user control group. Methods Ketamine users (n = 17) and poly-drug using controls (n = 19) were included in the study. All underwent volumetric MRI imaging and measurement of sub-threshold psychotic symptoms using the Comprehensive Assessment of At-Risk Mental State (CAARMS). Freesurfer was used to analyse differences in regional brain volume, cortical surface area and thickness between ketamine users and controls. The relationship between CAARMS ratings and brain volume was also investigated in ketamine users. Results Ketamine users were found to have significantly lower grey matter volumes of the nucleus accumbens, caudate nucleus, cerebellum and total cortex (FDR p < 0.05; Cohen’s d = 0.36–0.75). Within the cortex, ketamine users had significantly lower grey matter volumes within the frontal, temporal and parietal cortices (Cohen’s d 0.7–1.31; FDR p < 0.05). They also had significantly higher sub-threshold psychotic symptoms (p < 0.05). Frequency of ketamine use showed an inverse correlation with cerebellar volume (p < 0.001), but there was no relationship between regional brain volumes and sub-threshold psychotic symptoms. Conclusions Chronic ketamine use may cause lower grey matter volumes as well as inducing sub-threshold psychotic symptoms, although these likely arise through distinct mechanisms.

scholarly journals Ischemic cerebrovascular disease in childhood: cognitive assessment of 15 patients

2004 ◽  
Vol 62 (3b) ◽  
pp. 802-807 ◽  
Author(s):  
Sônia D. Rodrigues ◽  
Sylvia M. Cíasca ◽  
M. Valeriana L. Moura-Ribeiro
Keyword(s):  
Cognitive Function ◽  
Cerebrovascular Disease ◽  
Cognitive Assessment ◽  
Function Evaluation ◽  
Control Group ◽  
Socioeconomic Conditions ◽  
Ischemic Cerebrovascular Disease ◽  
Clinical Method ◽  
Cognitive Estimation

The aim of this study was to evaluate and to compare the cognitive function of children with ischemic cerebrovascular disease (ICVD). Fifteen children, 7 girls and 8 boys, aged 7.9 to 16.1 years, were evaluated by Piaget's clinical method. The control group was composed by fifteen children whose ages, sex and socioeconomic conditions were similar to those of the ICVD group. The cognitive function evaluation of the ICVD group showed that most of the children (10/15) were under their age group. The SPECT was performed on 14 children with ICVD and the results showed that 8/9 children with hypoperfusion presented a poor cognitive estimation and 3/5 children with normal perfusion demonstrated an adequate performance. We conclude that ICVD in childhood may compromise cognition; therefore, it needs a follow up of acquisitions during alI the stages of development.

Validation of the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) in the Russian Population

2021 ◽  
pp. 1-8
Author(s):  
Evgeniy Evdoshenko ◽  
Kristina Laskova ◽  
Maria Shumilina ◽  
Ekaterina Nekrashevich ◽  
Maria Andreeva ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cognitive Assessment ◽  
Verbal Learning ◽  
Cognitive Status ◽  
Russian Population ◽  
Cognitive Domain ◽  
Control Group ◽  
Retest Reliability ◽  
Valid Instrument ◽  
Test Retest Reliability

Abstract Objective: Cognitive dysfunction is common in multiple sclerosis (MS). The Brief International Cognitive Assessment for MS (BICAMS) battery of tests has been suggested as a measure for the evaluation of the cognitive status of MS patients. This study aims to validate the BICAMS battery in the Russian population of MS patients. Methods: Age- and sex-matched MS patients (n = 98) and healthy individuals (n = 86) were included in the study. Symbol Digit Modalities Test (SDMT), California Verbal Learning Test, 2nd edition (CVLT-II) and the Brief Visuospatial Memory Test – Revised (BVMT-R) were administered to all participants. The battery was readministered 1 month later to 44 MS patients to investigate the test–retest reliability. Results: MS patients exhibited a significantly lower performance in testing with BICAMS than the control group in all three neuropsychological tests. Test–retest reliability was good for SDMT and CVLT-II (r = .82 and r = .85, respectively) and adequate for BVMT-R (r = .70). Based on the proposed criterion for impairment as z score below 1.5 SD the mean of the control group, we found that 34/98 (35%) of MS patients were found impaired at least in one cognitive domain. Patients with Expanded Disability Status Scale score ≥3.5 performed significantly worse than controls (SDMT, p < .0001; CVLT–II, p = .03; BVMT-R, p = .0004), while those with ≤3.0 scores did not. Conclusion: This study demonstrates that the BICAMS battery is a valid instrument to identify cognitive impairment in MS patients and it can be recommended for routine use in the Russian Federation.

scholarly journals Effects of Cancer, Chemotherapy and Cytokines on Subjective and Objective Cognitive Functioning Among Patients with Breast Cancer

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2576
Author(s):  
Vincent Chin-Hung Chen ◽  
Chin-Kuo Lin ◽  
Han-Pin Hsiao ◽  
Bor-Show Tzang ◽  
Yen-Hsuan Hsu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cognitive Function ◽  
Cognitive Abilities ◽  
Verbal Fluency ◽  
Control Group ◽  
Control Groups ◽  
Semantic Verbal Fluency ◽  
Cytokine Levels ◽  
Chemotherapy Patients ◽  
And Control

Background: We aimed to investigate the associations of breast cancer (BC) and cancer-related chemotherapies with cytokine levels, and cognitive function. Methods: We evaluated subjective and objective cognitive function in BC patients before chemotherapy and 3~9 months after the completion of chemotherapy. Healthy volunteers without cancer were also compared as control group. Interleukins (IL) 2, 4, 5, 6, 10, 12p70, 13, 17A, 1β, IFNγ, and TNFα were measured. Associations of cancer status, chemotherapy and cytokine levels with subjective and objective cognitive impairments were analyzed using a regression model, adjusting for covariates, including IQ and psychological distress. Results: After adjustment, poorer performance in semantic verbal fluency was found in the post-chemotherapy subgroup compared to controls (p = 0.011, η2 = 0.070); whereas pre-chemotherapy patients scored higher in subjective cognitive perception. Higher IL-13 was associated with lower semantic verbal fluency in the post-chemotherapy subgroup. Higher IL-10 was associated with better perceived cognitive abilities in the pre-chemotherapy and control groups; while IL-5 and IL-13 were associated with lower perceived cognitive abilities in pre-chemotherapy and control groups. Our findings from mediation analysis further suggest that verbal fluency might be affected by cancer status, although mediated by anxiety. Conclusions: Our findings suggest that verbal fluency might be affected by cancer status, although mediated by anxiety. Different cytokines and their interactions may have different roles of neuroinflammation or neuroprotection that need further research.

scholarly journals One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Robert Meyer ◽  
Matthias Begemann ◽  
Christian Thomas Hübner ◽  
Daniela Dey ◽  
Alma Kuechler ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
Uniparental Disomy ◽  
Molecular Testing ◽  
Main Body ◽  
Comprehensive Overview ◽  
Maternal Uniparental Disomy ◽  
Whole Exome ◽  
Silver Russell Syndrome

Abstract Background Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat) as the most frequent findings. Monogenetic causes are rare, but a clinical overlap with numerous other disorders has been reported. However, a comprehensive overview on the contribution of mutations in differential diagnostic genes to phenotypes reminiscent to SRS is missing due to the lack of appropriate tests. With the implementation of next generation sequencing (NGS) tools this limitation can now be circumvented. Main body We analysed 75 patients referred for molecular testing for SRS by a NGS-based multigene panel, whole exome sequencing (WES), and trio-based WES. In 21/75 patients a disease-causing variant could be identified among them variants in known SRS genes (IGF2, PLAG1, HMGA2). Several patients carried variants in genes which have not yet been considered as differential diagnoses of SRS. Conclusions WES approaches significantly increase the diagnostic yield in patients referred for SRS testing. Several of the identified monogenetic disorders have a major impact on clinical management and genetic counseling.

scholarly journals Preliminary Evidence for a Relationship between Elevated Plasma TNFα and Smaller Subcortical White Matter Volume in HCV Infection Irrespective of HIV or AUD Comorbidity

2021 ◽  
Vol 22 (9) ◽  
pp. 4953
Author(s):  
Natalie M. Zahr ◽  
Kilian M. Pohl ◽  
Allison J. Kwong ◽  
Edith V. Sullivan ◽  
Adolf Pfefferbaum
Keyword(s):  
White Matter ◽  
Proinflammatory Cytokines ◽  
Soluble Protein ◽  
Subcortical White Matter ◽  
Control Group ◽  
White Matter Volume ◽  
Brain Volumes ◽  
Protein Levels ◽  
Matter Volume ◽  
Patient Groups

Classical inflammation in response to bacterial, parasitic, or viral infections such as HIV includes local recruitment of neutrophils and macrophages and the production of proinflammatory cytokines and chemokines. Proposed biomarkers of organ integrity in Alcohol Use Disorders (AUD) include elevations in peripheral plasma levels of proinflammatory proteins. In testing this proposal, previous work included a group of human immunodeficiency virus (HIV)-infected individuals as positive controls and identified elevations in the soluble proteins TNFα and IP10; these cytokines were only elevated in AUD individuals seropositive for hepatitis C infection (HCV). The current observational, cross-sectional study evaluated whether higher levels of these proinflammatory cytokines would be associated with compromised brain integrity. Soluble protein levels were quantified in 86 healthy controls, 132 individuals with AUD, 54 individuals seropositive for HIV, and 49 individuals with AUD and HIV. Among the patient groups, HCV was present in 24 of the individuals with AUD, 13 individuals with HIV, and 20 of the individuals in the comorbid AUD and HIV group. Soluble protein levels were correlated to regional brain volumes as quantified with structural magnetic resonance imaging (MRI). In addition to higher levels of TNFα and IP10 in the 2 HIV groups and the HCV-seropositive AUD group, this study identified lower levels of IL1β in the 3 patient groups relative to the control group. Only TNFα, however, showed a relationship with brain integrity: in HCV or HIV infection, higher peripheral levels of TNFα correlated with smaller subcortical white matter volume. These preliminary results highlight the privileged status of TNFα on brain integrity in the context of infection.

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