Detecting transitions in bipolar disorder (BD) is essential for implementing early interventions. Our aim was to identify the earliest indicator(s) of the onset of a hypomanic episode in BD. We hypothesized that objective changes in sleep would be the earliest indicator of a new hypomanic or manic episode. In this prospective, observational, contactless study, participants used wearable technology continuously to monitor their daily activity and sleep parameters. They also completed weekly self-ratings using the Altman Self-Rating Mania Scale (ASRM). Using time-frequency spectral derivative spike detection, we assessed the sensitivity, specificity, and balanced accuracy of wearable data to identify a hypomanic episode, defined as at least one or more weeks with consecutive ASRM scores ≥10. Of 164 participants followed for a median (IQR) of 495.0 (410.0) days, 50 experienced one or more hypomanic episodes. Within-night variability in sleep stages was the earliest indicator identifying the onset of a hypomanic episode (mean ± SD): sensitivity: 0.94 ± 0.19; specificity: 0.80 ± 0.19; balanced accuracy: 0.87 ± 0.13; followed by within-day variability in activity levels: sensitivity: 0.93 ± 0.18; specificity: 0.84 ± 0.13; balanced accuracy: 0.89 ± 0.11. Limitations of our study includes a small sample size. Strengths include the use of densely sampled data in a well-characterized cohort followed for over a year, as well as the use of a novel approach using time-frequency analysis to dynamically assess behavioral features at a granular level. Detecting and predicting the onset of hypomanic (or manic) episodes in BD is paramount to implement individualized early interventions.

• MeSH
• bipolární porucha * diagnóza   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mánie * diagnóza   MeSH
• mladý dospělý MeSH
• nositelná elektronika MeSH
• prospektivní studie MeSH
• psychiatrické posuzovací škály MeSH
• senzitivita a specificita MeSH
• spánek fyziologie   MeSH
• stadia spánku fyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH

Current diagnostic methods for dyslexia primarily rely on traditional paper-and-pencil tasks. Advanced technological approaches, including eye-tracking and artificial intelligence (AI), offer enhanced diagnostic capabilities. In this paper, we bridge the gap between scientific and diagnostic concepts by proposing a novel dyslexia detection method, called INSIGHT, which combines a visualisation phase and a neural network-based classification phase. The first phase involves transforming eye-tracking fixation data into 2D visualisations called Fix-images, which clearly depict reading difficulties. The second phase utilises the ResNet18 convolutional neural network for classifying these images. The INSIGHT method was tested on 35 child participants (13 dyslexic and 22 control readers) using three text-reading tasks, achieving a highest accuracy of 86.65%. Additionally, we cross-tested the method on an independent dataset of Danish readers, confirming the robustness and generalizability of our approach with a notable accuracy of 86.11%. This innovative approach not only provides detailed insight into eye movement patterns when reading but also offers a robust framework for the early and accurate diagnosis of dyslexia, supporting the potential for more personalised and effective interventions.

• Klíčová slova
• AI‐based diagnosis, ResNet18, deep learning, dyslexia, eye movement, eye tracking, fixation data classification,
• MeSH
• čtení MeSH
• dítě MeSH
• dyslexie * patofyziologie   diagnóza   klasifikace   MeSH
• lidé MeSH
• neuronové sítě (počítačové) * MeSH
• oční fixace * fyziologie   MeSH
• pohyby očí fyziologie   MeSH
• technologie sledování pohybu očí * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results. Here, we found that Fmr1 knock-out (KO) mice, a mouse model of FXS, showed increased sniffing duration for non-social odors during their first exposure. Additionally, while wild-type (WT) males demonstrated differences in behavioral patterns between non-social odors while Fmr1 KO males did not show such distinction. We also showed that Fmr1 KO males spent significantly less time sniffing female urine odor compared to WT males. Moreover, we found an increased volume of the olfactory bulb in Fmr1 KO males. Overall, our findings suggest that the Fmr1 KO mice demonstrate atypical olfactory behaviors as well as structural changes in the olfactory bulb.

• Klíčová slova
• Fmr1 KO mice, Fragile X syndrome, Odor discrimination test, Olfactory behavior, Olfactory bulb,
• MeSH
• bulbus olfactorius * metabolismus   MeSH
• chování zvířat MeSH
• čich * fyziologie   MeSH
• modely nemocí na zvířatech MeSH
• myši knockoutované * MeSH
• myši MeSH
• odoranty * MeSH
• protein FMRP * genetika   metabolismus   MeSH
• syndrom fragilního X * patofyziologie   genetika   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• Fmr1 protein, mouse MeSH Prohlížeč
• protein FMRP * MeSH

BACKGROUND: The hippocampal representation of space, formed by the collective activity of populations of place cells, is considered as a substrate of spatial memory. Alzheimer's disease (AD), a widespread severe neurodegenerative condition of multifactorial origin, typically exhibits spatial memory deficits among its early clinical signs before more severe cognitive impacts develop. OBJECTIVE: To investigate mechanisms of spatial memory impairment in a double transgenic rat model of AD. METHODS: In this study, we utilized 9-12-month-old double-transgenic TgF344-AD rats and age-matched controls to analyze the spatial coding properties of CA1 place cells. We characterized the spatial memory representation, assessed cells' spatial information content and direction-specific activity, and compared their population coding in familiar and novel conditions. RESULTS: Our findings revealed that TgF344-AD animals exhibited lower precision in coding, as evidenced by reduced spatial information and larger receptive zones. This impairment was evident in maps representing novel environments. While controls instantly encoded directional context during their initial exposure to a novel environment, transgenics struggled to incorporate this information into the newly developed hippocampal spatial representation. This resulted in impairment in orthogonalization of stored activity patterns, an important feature directly related to episodic memory encoding capacity. CONCLUSIONS: Overall, the results shed light on the nature of impairment at both the single-cell and population levels in the transgenic AD model. In addition to the observed spatial coding inaccuracy, the findings reveal a significantly impaired ability to adaptively modify and refine newly stored hippocampal memory patterns.

• Klíčová slova
• Alzheimer’s disease, TgF344-AD rats, place cell directionality, place field size, spatial memory,
• MeSH
• Alzheimerova nemoc * patofyziologie   MeSH
• amyloidový prekurzorový protein beta genetika   MeSH
• hipokampální oblast CA1 patofyziologie   MeSH
• hipokampus patofyziologie   MeSH
• krysa rodu Rattus MeSH
• lidé MeSH
• modely nemocí na zvířatech * MeSH
• poruchy paměti etiologie   patofyziologie   MeSH
• potkani inbrední F344 MeSH
• potkani transgenní * MeSH
• prostorová paměť fyziologie   MeSH
• zvířata MeSH
• Check Tag
• krysa rodu Rattus MeSH
• lidé MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• amyloidový prekurzorový protein beta MeSH

Speech impairment is a common and disabling symptom in Parkinson's disease (PD), affecting communication and quality of life. Advances in digital speech processing and artificial intelligence have revolutionized objective speech analysis. Given the complex nature of speech impairment, acoustic speech analysis offers unique biomarkers for neuroprotective treatments from the prodromal stages of PD. Digital speech biomarkers can monitor levodopa-induced motor complications, detect the effects of deep brain stimulation, and provide feedback for behavioral speech therapy. This review updates the mechanisms underlying speech impairment, the impact of speech phenotypes, and the effects of interventions on speech. We evaluate the strengths, potential weaknesses, and suitability of promising digital speech biomarkers in PD for capturing disease progression and treatment efficacy. Additionally, we explore the translational potential of PD speech biomarkers to other neuropsychiatric diseases, offering insights into motion, cognition, and emotion. Finally, we highlight knowledge gaps and suggest directions for future research to enhance the use of quantitative speech measures in disease-modifying clinical trials. The findings demonstrate that one year is sufficient to detect disease progression in early PD through speech biomarkers. Voice quality, pitch, loudness, and articulation measures appear to capture the efficacy of treatment interventions most effectively. Certain speech features, such as loudness and articulation rate, behave oppositely in different neurological diseases, offering valuable insights for differential diagnosis. In conclusion, this review highlights speech as a biomarker in tracking disease progression, especially in the prodromal stages of PD, and calls for further longitudinal studies to establish its efficacy across diverse populations.

• Klíčová slova
• Acoustic, Dysarthria, Machine learning, Neurological diseases, Parkinson’s disease, Speech, Voice,
• MeSH
• biologické markery * metabolismus   MeSH
• klinické zkoušky jako téma MeSH
• lidé MeSH
• Parkinsonova nemoc * terapie   diagnóza   patofyziologie   MeSH
• poruchy řeči etiologie   terapie   MeSH
• prodromální symptomy * MeSH
• progrese nemoci MeSH
• řeč fyziologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• biologické markery * MeSH

Recent fMRI resting-state findings show aberrant functional connectivity within somatomotor network (SMN) in schizophrenia. Moreover, functional connectivity aberrations of the motor system are often reported to be related to the severity of psychotic symptoms. Thus, it is important to validate those findings and confirm their relationship with psychopathology. Therefore, we decided to take an entirely data-driven approach in our fMRI resting-state study of 30 chronic schizophrenia outpatients and 30 matched control subjects. We used independent component analysis (ICA), dual regression, and seed-based connectivity analysis. We found reduced functional connectivity within SMN in schizophrenia patients compared to controls and SMN hypoconnectivity with the cerebellum in schizophrenia patients. The latter was strongly correlated with the severity of alogia, one of the main psychotic symptoms, i.e. poverty of speech and reduction in spontaneous speech,. Our results are consistent with the recent knowledge about the role of the cerebellum in cognitive functioning and its abnormalities in psychiatric disorders, e.g. schizophrenia. In conclusion, the presented results, for the first time clearly showed the involvement of the cerebellum hypoconnectivity with SMN in the persistence and severity of alogia symptoms in schizophrenia.

• Klíčová slova
• Cerebellum, Negative symptoms, Schizophrenia, Somatomotor network, fMRI,
• MeSH
• afázie patofyziologie   diagnostické zobrazování   etiologie   patologie   MeSH
• chronická nemoc MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie * MeSH
• mozeček * diagnostické zobrazování   patofyziologie   MeSH
• nervová síť diagnostické zobrazování   patofyziologie   MeSH
• nervové dráhy patofyziologie   diagnostické zobrazování   MeSH
• schizofrenie * diagnostické zobrazování   patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: The use of antidepressants in bipolar disorder (BD) remains contentious, in part due to the risk of antidepressant-induced mania (AIM). However, there is no information on the architecture of mood regulation in patients who have experienced AIM. We compared the architecture of mood regulation in euthymic patients with and without a history of AIM. METHODS: Eighty-four euthymic participants were included. Participants rated their mood, anxiety and energy levels daily using an electronic (e-) visual analog scale, for a mean (SD) of 280.8(151.4) days. We analyzed their multivariate time series by computing each variable's auto-correlation, inter-variable cross-correlation, and composite multiscale entropy of mood, anxiety, and energy. Then, we compared the data features of participants with a history of AIM and those without AIM, using analysis of covariance, controlling for age, sex, and current treatment. RESULTS: Based on 18,103 daily observations, participants with AIM showed significantly stronger day-to-day auto-correlation and cross-correlation for mood, anxiety, and energy than those without AIM. The highest cross-correlation in participants with AIM was between mood and energy within the same day (median (IQR), 0.58 (0.27)). The strongest negative cross-correlation in participants with AIM was between mood and anxiety series within the same day (median (IQR), -0.52 (0.34)). CONCLUSION: Patients with a history of AIM have a different underlying mood architecture compared to those without AIM. Their mood, anxiety and energy stay the same from day-to-day; and their anxiety is negatively correlated with their mood.

• Klíčová slova
• antidepressant‐induced mania (AIM), auto‐correlation, bipolar disorder, cross‐correlation, euthymia, mood regulation, time series analysis,
• MeSH
• afekt * účinky léků   MeSH
• antidepresiva * terapeutické užití   škodlivé účinky   MeSH
• bipolární porucha * farmakoterapie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mánie * farmakoterapie   chemicky indukované   MeSH
• psychiatrické posuzovací škály MeSH
• úzkost farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antidepresiva * MeSH

MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three AP1S1 nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated σ1A proteins, with consequent AP-1 dysfunction. However, two AP1S1 missense variants (c.269 T > C and c.346G > A) were recently reported in patients who presented with severe enteropathy but no additional symptoms of MEDNIK. This condition was described as a novel non-syndromic form of congenital diarrhea caused specifically by the AP1S1 missense variants. In this study, we report two patients with the same c.269 T > C variant, who, contrary to the previous cases, presented as complete MEDNIK syndrome. These data substantially revise the presentation of disorders associated with AP1S1 gene variants and indicate that all the identified pathogenic AP1S1 variants result in MEDNIK syndrome. We also provide a series of functional analyses that elucidate the impact of the c.269 T > C variant on σ1A function, contributing to a better understanding of the molecular pathogenesis of MEDNIK syndrome. KEY MESSAGES: A missense AP1S1 c.269 T > C (σ1A L90P) variant causes full MEDNIK syndrome. The σ1A L90P variant is largely unable to assemble into the AP-1 complex. The σ1A L90P variant fails to bind [DE]XXXL[LI] sorting motifs. The σ1A L90P variant results in loss-of-function of the protein.

• Klíčová slova
• AP1S1, Coatopathies, Congenital diarrhea, MEDNIK, Missense variants,
• MeSH
• adaptorový proteinový komplex - sigma-podjednotky * genetika   MeSH
• adaptorový proteinový komplex 1 * genetika   MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• mentální retardace genetika   MeSH
• missense mutace * MeSH
• průjem genetika   MeSH
• syndrom MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Intramural MeSH
• Názvy látek
• adaptorový proteinový komplex - sigma-podjednotky * MeSH
• adaptorový proteinový komplex 1 * MeSH

BACKGROUND: Speech dysfunction represents one of the initial motor manifestations to develop in Parkinson's disease (PD) and is measurable through smartphone. OBJECTIVE: The aim was to develop a fully automated and noise-resistant smartphone-based system that can unobtrusively screen for prodromal parkinsonian speech disorder in subjects with isolated rapid eye movement sleep behavior disorder (iRBD) in a real-world scenario. METHODS: This cross-sectional study assessed regular, everyday voice call data from individuals with iRBD compared to early PD patients and healthy controls via a developed smartphone application. The participants also performed an active, regular reading of a short passage on their smartphone. Smartphone data were continuously collected for up to 3 months after the standard in-person assessments at the clinic. RESULTS: A total of 3525 calls that led to 5990 minutes of preprocessed speech were extracted from 72 participants, comprising 21 iRBD patients, 26 PD patients, and 25 controls. With a high area under the curve of 0.85 between iRBD patients and controls, the combination of passive and active smartphone data provided a comparable or even more sensitive evaluation than laboratory examination using a high-quality microphone. The most sensitive features to induce prodromal neurodegeneration in iRBD included imprecise vowel articulation during phone calls (P = 0.03) and monopitch in reading (P = 0.05). Eighteen minutes of speech corresponding to approximately nine calls was sufficient to obtain the best sensitivity for the screening. CONCLUSION: We consider the developed tool widely applicable to deep longitudinal digital phenotyping data with future applications in neuroprotective trials, deep brain stimulation optimization, neuropsychiatry, speech therapy, population screening, and beyond. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

• Klíčová slova
• Parkinson's disease, machine learning, prodromal synucleinopathy biomarker, speech, wearables,
• MeSH
• biologické markery MeSH
• chytrý telefon * MeSH
• hlas fyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• Parkinsonova nemoc * patofyziologie   komplikace   MeSH
• parkinsonské poruchy patofyziologie   MeSH
• porucha chování v REM spánku * patofyziologie   diagnóza   MeSH
• poruchy řeči etiologie   MeSH
• prodromální symptomy MeSH
• průřezové studie MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH

BACKGROUND: Psychotic-like experiences (PLEs) are subtle, subclinical perturbations of perceptions and thoughts and are common in the general population. Their characterisation and unidimensionality are still debated. METHODS: This study was conducted by the Electronic-halluCinations-Like Experiences Cross-culTural International Consortium (E-CLECTIC) and aimed at measuring the Community Assessment of Psychic Experiences (CAPE) factorial structure across five European countries (Belgium; Czech Republic, Germany; Greece, and Spain) and testing the adequacy of the unidimensional polytomous Rasch model of the tool via Partial Credit Model (PCM) of the CAPE to detect people with a high risk for developing psychosis. RESULTS: The sample included 1461 participants from the general population. The factorial analysis confirmed the best fit for the bifactor implementation of the three-factor model, including the positive, negative and depressive dimensions and a general factor. Moreover, the unidimensional polytomous Rasch analysis confirmed that CAPE responses reflected one underlying psychosis proneness. CONCLUSIONS: The study proved that the CAPE measures a single latent dimension of psychosis-proneness. The CAPE might help locate and estimate psychosis risk and can be used as a screening tool in primary care settings/education settings.

• Klíčová slova
• Cross-national study, Psychosis like-experiences, Rasch model,
• MeSH
• dospělí MeSH
• faktorová analýza statistická MeSH
• halucinace diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• psychiatrické posuzovací škály normy   MeSH
• psychometrie * normy   MeSH
• psychotické poruchy * diagnóza   psychologie   MeSH
• srovnání kultur MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Belgie MeSH
• Česká republika MeSH
• Evropa MeSH
• Německo MeSH
• Řecko MeSH
• Španělsko MeSH