Is there sufficient evidence for the association between executive dysfunction and academic performance in adolescents with major depressive disorder?: a systematic review.

Adult depression, undoubtedly associated with executive dysfunction, leads to poor work performance. As depression in adolescents may have a negative impact on school performance, we aimed to analyse the possible relationship between selected executive deficits and academic performance. Executive dysfunctions may have more severe consequences on school performance at high school, as this stage of education requires engagement in long-term goals, whether writing an essay or preparing for an exam. Whilst inhibitory control is necessary at all educational stages, it seems that planning and decision-making play a greater role in high school than in primary school. We reviewed studies on executive functions conducted in adolescents diagnosed with major depressive disorder (MDD) to establish the possible relationship between executive processes and school performance in depressed adolescents. The search identified 5 studies addressing planning and decision-making in adolescents with MDD, but none of those studies reported educational achievement. We identified a considerable gap in the research on the functional impact of depression in adolescents. Identifying the link between specific executive deficits and school performance could guide tailored therapeutic interventions.

The misidentification syndromes and source memory deficits with their neuroanatomical correlates from neuropsychological perspective.

The suggested model is discussed with reference to two clinical populations with memory disorders - patients with misidentification syndromes and those with source memory impairment, both of whom may present with (broadly conceived) déjà vu phenomenon, without insight into false feeling of familiarity. The role of the anterior thalamic nucleus and retrosplenial cortex for autobiographical memory and familiarity is highlighted.

Computer Aided Written Character Feature Extraction in Progressive Supranuclear Palsy and Parkinson's Disease.

Parkinson's disease (PD) and progressive supranuclear palsy (PSP) are neurodegenerative movement disorders associated with cognitive dysfunction. The Luria's Alternating Series Test (LAST) is a clinical tool sensitive to both graphomotor problems and perseverative tendencies that may suggest the dysfunction of prefrontal and/or frontostriatal areas and may be used in PD and PSP assessment. It requires the participant to draw a series of alternating triangles and rectangles. In the study, two clinical groups-51 patients with PD and 22 patients with PSP-were compared to 32 neurologically intact seniors. Participants underwent neuropsychological assessment. The LAST was administered in a paper and pencil version, then scanned and preprocessed. The series was automatically divided into characters, and the shapes were recognized as rectangles or triangles. In the feature extraction step, each rectangle and triangle was regarded both as an image and a two-dimensional signal, separately and as a part of the series. Standard and novel features were extracted and normalized using characters written by the examiner. Out of 71 proposed features, 51 differentiated the groups (p < 0.05). A classifier showed an accuracy of 70.5% for distinguishing three groups.

The Impact of Subthalamic Deep Brain Stimulation on Restless Legs Syndrome in Parkinson's Disease.

INTRODUCTION: The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients. MATERIALS AND METHODS: We assessed the presence of RLS before and 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remission of RLS in terms of sleep measures (interview and validated questionnaires) and nonmotor symptoms (NMS). Polysomnography (PSG) was performed in 24 patients. Simple and multiple regression models were used to identify potential predictors of RLS outcome after DBS-STN. RESULTS: Before DBS-STN 14 of the 36 patients (39%) were diagnosed with RLS. DBS-STN resulted in the resolution of RLS in 43% (n = 6) and the emergence of RLS in 2 (9%) patients. During the study, 20 patients remained without RLS and the patients with unremitting RLS (n = 8) experienced alleviation of symptoms. At baseline patients with RLS had higher Non-Motor Symptoms Scale (NMSS) total and sleep domain, Unified Parkinson's Disease Rating Scale (UPDRS) part IV and lower Parkinson's Disease Sleep Scale (PDSS) scores. There were no differences between the groups without and with RLS in terms of PSG recordings. CONCLUSION: DBS-STN provided relief of symptoms in most of the patients with PD and RLS. We found that RLS was associated with worse subjective sleep quality, more severe NMS, and complications of levodopa therapy. DBS-STN may have direct impact on RLS rather than related indirectly through post-surgery change in medications.

Does progressive aphantasia exist? The hypothetical role of aphantasia in the diagnosis of neurodegenerative diseases.

Aphantasia is a heterogeneous neuropsychological syndrome consisting of the inability to create mental images. We argue that its progressive form may be a harbinger of dementia. Aphantasia may manifest as the inability to create any mental images or to create complex scenes, inability to spontaneously initiate generation of mental images, and/or inability to visualize a sequence of events.

Is deep brain stimulation effective in Huntington's Disease? - a systematic literature review.

INTRODUCTION: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder. Substantial for a diagnosis of the disease are motor disorders, with chorea as a hallmark symptom. Other disease manifestations include cognitive dysfunction and psychiatric disorders. Currently, pharmacological treatment plays the most important role in the therapy of HD patients. However, deep brain stimulation (DBS) is considered a potential therapeutic option. AIM OF THE STUDY: Systematic review of current literature on DBS efficacy and safety in the management of motor, behavioural and cognitive functions in patients with HD. MATERIAL AND METHODS: A systematic review was conducted with the use of the Scopus database and the following search criteria: TITLE (huntington*) AND TITLE-ABS-KEY ('deep brain stimulation' OR 'neuromodulation'). Our search criteria included original studies with at least five patients, reporting any motor, cognitive and/or behavioural, and functional assessment data with at least a 6-month follow-up. Finally, four selected publications were analysed. RESULTS: In all analysed publications, we found a statistically significant improvement of Unified Huntington's Disease Rating Scale (UHDRS) chorea subscore by an average of 40, to over 60% after DBS implantation. Heterogeneous results were obtained for UHDRS total motor score. DBS did not improve functional capacity of HD patients in the analysed studies. We found no systematic assessment concerning the effect of DBS in HD on behaviour, cognition or speech. CONCLUSIONS: DBS implantation could be considered as a therapeutic option for patients with severe, drug-resistant chorea. However, the evidence for this is limited. To date, no high-quality data based on randomised controlled trials supports the long-term safety and efficacy of DBS in HD. This treatment option should therefore currently be considered as investigational.

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

BACKGROUND AND PURPOSE: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease. METHODS: Data on new patients from New Zealand, Poland and Colombia were collected, including autopsy report. Also all of the published papers since the original work by Perry in 1975 were gathered and analyzed. RESULTS: Parkinsonism was symmetrical, progressed rapidly and was poorly responsive to L-Dopa; nonetheless, a trial with high doses of L-Dopa is warranted. Depression was severe, associated with suicidal ideations, and benefited from antidepressants and L-Dopa. Respiratory symptoms were the leading cause of death, and artificial ventilation or a diaphragm pacemaker prolonged survival. Weight loss occurred in most patients and was of multifactorial etiology. Autonomic dysfunction was frequent but underdiagnosed. There was a clinical overlap with other neurodegenerative disorders. An autopsy showed distinctive pallidonigral degeneration with TDP-43 pathology. Genetic testing provided evidence of a common founder for two families. There was striking phenotypic variability in DCTN1-related disorders. It is hypothesized that oligogenic or polygenic inheritance is at play. CONCLUSIONS: Perry disease and other DCTN1-related diseases are increasingly diagnosed worldwide. Relatively effective symptomatic treatments are available. Further studies are needed to pave the way toward curative/gene therapy.

The assessment of cognitive and behavioural disturbances in vascular cognitive impairment (VCI) - recommendations of an expert working group.

With newer research-based classification systems, the term Vascular Cognitive Impairment (VCI) is now preferred to vascular dementia. VCI is an umbrella term that includes all forms of cognitive deficits ranging from mild cognitive impairment of vascular origin (VaMCI) to vascular dementia (VaD). The new VCI construct takes into account the fact that in addition to single strategic infarcts, multiple infarcts, and leukoaraiosis, there are other mechanisms of cerebrovascular disease such as chronic hypoperfusion that might account for the pattern of cognitive deficits associated with vascular dementia. The key to defining the spectrum of VCI is neuropsychological testing, bedside or office-based clinical examination, and neuroimaging. The lack of specific cognitive tools that are sufficiently sensitive to detect subtle deficits makes the assessment of cognitive impairment difficult. Prospective cross-sectional and longitudinal studies of VCI from different settings are therefore required. Although there have been few published reports, behavioural and psychological symptoms (BPS) are inherently present in VCI from the onset and during the course of the disease. Besides the type of population (i.e. clinical, community or nursing-home settings), the definition of VCI/VaD and the instruments used, and differences in the prevalence and pattern of BPS between various studies, could be due to other, often unconsidered, factors such as gender, age, education, use of medication and VCI/VaD severity.

Prevalence and predictors of post-stroke spasticity and its impact on daily living and quality of life.

BACKGROUND AND AIMS: The present study aimed to assess the frequency of spasticity in a single-centre cohort of stroke patients in a one-year follow-up, its predictors, and its impact on the activities of daily living (ADL) and health-related quality of life (HRQoL). MATERIAL AND METHODS: A group of 121 consecutive patients with hemiparesis (aged 73 ± 11 years) was selected for further observation, out of 381 Stroke Department patients during one year. At three follow-up assessments three, six and 12 months after stroke, muscle tone and muscle weakness were rated using Modified Ashworth Scale (MAS) and Medical Research Council (MRC); Activities of Daily Living (ADL) and Health Related Quality of Life (HRQoL) were evaluated using the Barthel Index (BI), Modified Rankin Scale (mRS) and an SF-36 questionnaire. RESULTS: Fifty five of 121 (45%) patients after three months had developed spasticity (MAS ≥ 1), and in 19 of the 121 (15%) this spasticity was severe. After one year, 33/94 (35%) patients showed spasticity, and in 19/94 (20%) it was severe. Baseline muscle weakness (MRC), stroke severity as measured by the National Institutes of Health Stroke Scale (NIHSS), and greater disability (BI), were the most significant predictors of persistent post-stroke spasticity. Patients with spasticity had worse HRQoL in terms of their physical functioning, role limitations, physical pain, and vitality. CONCLUSION: Spasticity, which affects a significant proportion of stroke survivors, was present in 35% of our patients at 12 months after stroke. It has a major impact on both ADL and HRQoL. Severe disability and muscle weakness are the most important predictors of persistent post-stroke spasticity.

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.

Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs.

Utility of Frontal Assessment Battery in detection of neuropsychological dysfunction in Richardson variant of progressive supranuclear palsy.

Progressive supranuclear palsy is characterized by motor, cognitive and behavioral features. In Richardson's syndrome of PSP (PSP-RS) executive dysfunction is quite prominent. Frontal Assessment Battery (FAB) is one of the most popular screening tests in the differential diagnosis of bradykinetic rigid syndromes. The study aimed at analyzing FAB subscores in relation to neuropsychological assessment results. Twenty patients with PSP-RS (12 with probable and eight with possible diagnosis) participated in the study. Sixteen PSP-RS patients scored below 15 on FAB. Among four patients having scored above cut-off (12 points) on FAB, two demonstrated both executive and language deficits, while the other two presented with only selective executive deficits on comprehensive neuropsychological evaluation. FAB is a useful screening measure in PSP, but it may not detect subtle executive deficits. Moreover, language performance seems to contribute significantly to FAB scores. Thus, FAB should be treated as "frontal" rather than "executive" screening task, in line with its name.

The role of neuroimaging in the diagnosis of the atypical parkinsonian syndromes in clinical practice.

Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy. In the absence of reliably validated biomarkers the diagnosis is still challenging and mainly based on clinical criteria. However, robust data emerging from routine magnetic resonance imaging (MRI) as well as from many advanced MRI techniques such as: diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), voxel-based morphometry (VBM), susceptibility-weighted imaging (SWI) may help in differential diagnosis. The main aim of this review is to summarize briefly the most important and acknowledged radiological findings of conventional MRI due to its availability in standard clinical settings. Nevertheless, we present shortly other methods of structural (like TCS - transcranial sonography) and functional imaging (like SPECT - single photon emission computed tomography or PET - positron emission tomography) as well as some selected advanced MRI techniques and their potential future applications in supportive role in distinguishing APD.

Is descriptive writing useful in the differential diagnosis of logopenic variant of primary progressive aphasia, Alzheimer's disease and mild cognitive impairment?

Current classification of primary progressive aphasia (PPA) encompasses three variants: non-fluent (nfvPPA), semantic (svPPA) and logopenic (lvPPA). Previously lvPPA was regarded as aphasic form of Alzheimer's disease (AD). However, not all patients with lvPPA phenotype present with AD pathology. Despite abundant literature on differentiation of lvPPA from svPPA and nfvPPA, studies comparing lvPPA with AD and mild cognitive impairment (MCI) are scarce. This study aimed at analyzing written descriptive output in lvPPA, AD and MCI. Thirty-five patients participated in the study: 9 with lvPPA, 13 with AD and 13 with MCI. Most aspects of writing performance were comparable in three groups. However, letter insertion errors appeared in 44% patients with lvPPA, while they were absent in AD and MCI. Patients with lvPPA used more verbs than patients with AD. Writing profile may complement other neuropsychological assessment results in the differential diagnosis of lvPPA. Letter insertion errors and frequent verb use may raise a query of lvPPA.

Writing in Richardson variant of progressive supranuclear palsy in comparison to progressive non-fluent aphasia.

BACKGROUND: The overlap between progressive supranuclear palsy (PSP) and progressive non-fluent aphasia (PNFA) is being increasingly recognized. In this paper descriptive writing in patients with Richardson syndrome of progressive supranuclear palsy (PSP-RS) is compared to writing samples from patients with PNFA. METHODS: Twenty-seven patients participated in the study: 17 with the clinical diagnosis of PSP-RS and 10 with PNFA. Untimed written picture description was administered during neuropsychological assessment and subsequently scored by two raters blinded to the clinical diagnosis. Lexical and syntactic content, as well as writing errors (e.g. omission and perseverative errors) were analyzed. RESULTS: In patients with PSP-RS both letter and diacritic mark omission errors were very frequent. Micrographia was present in 8 cases (47%) in PSP-RS group and in one case (10%) with PNFA. Perseverative errors did not differentiate between the groups. CONCLUSIONS: As omission errors predominate in writing of patients with PSP-RS, writing seems to be compromised mainly because of oculomotor deficits, that may alter visual feedback while writing.

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

OBJECTIVES: Patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) may be agraphic. The study aimed at characterizing agraphia in individuals with a P301L MAPT mutation. METHODS: Two pairs of siblings with FTDP-17 were longitudinally examined for agraphia in relation to language and cognitive deficits. RESULTS: All patients presented with dysexecutive agraphia. In addition, in the first pair of siblings one sibling demonstrated spatial agraphia with less pronounced allographic agraphia and the other sibling had aphasic agraphia. Aphasic agraphia was also present in one sibling from the second pair. CONCLUSION: Agraphia associated with FTDP-17 is very heterogeneous.

[Visual impairment in posterior cortical atrophy--visual variant of Alzheimer's disease in the ophthalmic practice]. / Zaburzenia widzenia w zaniku korowym tylnym--wariant wzrokowy choroby Alzheimera w praktyce okulistycznej.

Posterior cortical atrophy, also known as visual variant of Alzheimer's disease, is a rare dementia syndrome characterized by the predominant visuospatial functional deficit. The ophthalmologist is usually the first specialist consultant the patient is referred to with such complaints as: reading difficulty, face recognition problems, feeling of visual field restriction, difficulty perceiving more than one object at a time, difficulty grabbing objects under visual control, recognizing familiar surroundings, watching television or driving a car. Posterior cortical atrophy is one of early-onset (below 65 years of age) dementia syndromes and is most often associated with Alzheimer's pathology. Visual impairment is due to the disturbance of one or two visual pathways in the brain (dorsal--analyzing the stimulus localization, ventral--enabling the stimulus recognition) and subsequent atrophy of parietal and/or occipital lobe. The article presents the clinical characteristics and diagnostic criteria of posterior cortical atrophyas well as abnormal findings of the extended ophtalmic examination and methods utilised in differential diagnosis of cortical vision deficits. Early diagnosis of posterior cortical atrophy can be ensured by the close cooperation between the ophtalomogist and a neurologist specializing in the diagnosis of neurodegenerative diseases.

Neuroimaging in the differential diagnosis of primary progressive aphasia - illustrative case series in the light of new diagnostic criteria.

BACKGROUND: Primary progressive aphasia (PPA) is a progressive language disorder associated with atrophy of the dominant language hemisphere, typically left. Current PPA criteria divide PPA into three variants: non-fluent (nfvPPA), semantic (svPPA) and logopenic (lvPPA). The classification of PPA into one of the three variants may be performed at 3 levels: I) clinical, II) imaging-supported, III) definite pathologic diagnosis. This paper aimed at assessing the feasibility of the imaging-supported diagnostics of PPA variants in the Polish clinical setting with access to magnetic resonance imaging (MRI) and single-photon emission computed tomography (SPECT) examinations. CASE REPORT: We present the clinical and neuroimaging data on 6 patients (4 women, 2 men) clinically diagnosed with PPA (3 with nfvPPA and 3 with lvPPA) in whom MRI and SPECT were performed in order to determine if imaging-supported diagnosis could be established in those cases. In 4 individuals (2 with nfvPPA and 2 with lvPPA) clinical diagnosis was supported by neuroimaging (SPECT, albeit not MRI), thus level II of PPA diagnosis could be established in those cases. MRI results were either inconsistent with the clinical diagnosis (Patients 1 and 2) or a mixed pattern of atrophy was observed (Patients 3-6). CONCLUSIONS: Imaging-supported diagnosis of PPA variant is more feasible with quantitative analysis of SPECT images than with purely qualitative visual analysis of MRI. Hypoperfusion abnormalities evidenced by SPECT are more variant-specific than patterns of atrophy.

Family Functioning, Maternal Depression, and Adolescent Cognitive Flexibility and Its Associations with Adolescent Depression: A Cross-Sectional Study.

BACKGROUND: This study explores family functioning and its associations with adolescent major depressive disorder (MDD), comparing its dynamics with healthy counterparts. Family functioning (cohesion, flexibility, communication, and satisfaction), maternal depressive symptoms, postpartum depression history, parental divorce, parental alcohol abuse, and the adolescents' cognitive flexibility, are examined. The research incorporates the perspectives of both adolescents and mothers. METHODS: The sample includes 63 mother-teenager dyads in the clinical group and 43 in the control group. Instruments encompass the Family Adaptability and Cohesion Evaluation Scales (FACES IV), Children's Depression Inventory (CDI-2), Beck Depression Inventory (BDI-II), The Brixton Spatial Anticipation Test, and structured interviews. RESULTS: Families of adolescents with MDD exhibit lower flexibility, cohesion, communication, and overall satisfaction. Depressed adolescents display reduced cognitive flexibility. Discrepancies were observed between adolescents' and mothers' perspectives as associated with adolescents' MDD. Teenagers emphasized the severity of maternal depressive symptoms, while mothers highlighted the importance of family cohesion and flexibility. CONCLUSIONS: This study emphasizes a holistic strategy in addressing adolescent depression, including family-based assessment and therapy. Screening for maternal depressive symptoms is identified as valuable. Cognitive flexibility also needs to be addressed during therapy for depression in adolescence.

Self-awareness of executive dysfunction in Huntington's disease: comparison with Parkinson's disease and cervical dystonia.

This study assessed self-awareness of executive deficits in patients with Huntington's disease (HD) in comparison to patients with Parkinson's disease (PD) and with cervical dystonia (CD). Eighty-nine patient-proxy pairs participated in the study (23 with HD, 25 with advanced PD, 21 with mild PD and 20 with CD). Executive function was assessed with the Stroop test and the Dysexecutive Questionnaire. Insight into executive impairment in HD is mildly affected, when compared to PD and CD.

The impact of MRI white matter hyperintensities on dementia in Parkinson's disease in relation to the homocysteine level and other vascular risk factors.

BACKGROUND: The role of white matter hyperintensities (WMH) and homocysteine (Hcy) and other vascular risk factors in the pathogenesis of Parkinson's disease (PD) dementia (PDD) remains unclear. OBJECTIVE: The aim of the study was to assess the impact of WMH, Hcy and other biochemical and vascular risk factors on PDD. METHODS: A total of 192 patients with PD and 184 age- and sex-matched healthy controls were included. A semistructured interview was used to assess demographic and clinical variables with respect to vascular risk factors (arterial hypertension, diabetes mellitus, atrial fibrillation, ischemic heart disease, obliterative atherosclerosis, hypercholesterolemia, smoking, alcohol intake). Unified Parkinson's Disease Rating Scale score, Hoehn-Yahr staging and the Schwab-England activities of daily living scale were used to assess motor abilities and activities of daily living. A complex neuropsychological examination with a battery of tests was used to classify patients into a group with dementia (PDD) and a group without dementia (PD). Neuroradiological examination of MRI scans included visual rating scales for WMH (according to the Wahlund and Erkinjunntti rating scales) and the Scheltens scale for hippocampal atrophy. Blood samples for Hcy, folate, vitamin B12, fibrinogen, lipids, glucose, creatinine, transaminases and thyroid stimulating hormone (TSH) were examined. RESULTS: Among all patients, 57 (29.7%) fulfilled the diagnostic criteria for dementia. Significantly higher Hcy plasma levels were noted in PD and PDD groups compared to controls (p < 0.05) and in PDD when compared to PD (p < 0.05). According to multivariate regression analysis, WMH (Erkinjuntti scale), high Hcy, low vitamin B12 and folate plasma levels were independent risk factors for PDD. Vascular risk factors did not play any role in the pathogenesis of PDD and WMH. CONCLUSIONS: WMH along with Hcy, folate and vitamin B12 may impact cognition in PD. Therapy with vitamin B12, folate and catechol-O-methyltransferase inhibitors may play a potential protective role against PDD.