Porucha autistického spektra (PAS) a schizofrénia majú genetický základ, ale významnú úlohu v etiopatogenéze zohrávajú aj faktory prostredia. Jedným z nich môže byť infekčné ochorenie, ktoré matka prekoná počas tehotenstva. Vyplýva to predovšetkým z epidemiologických štúdií, podľa ktorých prenatálna infekcia za určitých okolností zvyšuje riziko vzniku PAS a schizofrénie u potomkov. Animálne experimenty naznačujú, že kľúčovú úlohu tu zohráva najmä imunitná odpoveď matky na infekciu, predovšetkým v podobe cytokínovej búrky. Výsledný efekt prenatálnej infekcie však závisí od viacerých rizikových a protektívnych faktorov na strane matky i plodu, ako aj od charakteristík pôsobiacej infekcie. V prípade COVID-19 zatiaľ pre krátkosť času takéto štúdie absentujú, no vzhľadom na jeho infekčný charakter a najmä vysoký výskyt nie je neopodstatnené uvažovať o možnom riziku. Cieľom našej práce bolo zosumarizovať výsledky epidemiologických a animálnych štúdií súvisiacich s inými infekciami a na ich základe uvažovať, či COVID-19 počas tehotenstva môže predstavovať riziko pre vznik PAS alebo schizofrénie u potomkov.
Autism spectrum disorder (ASD) and schizophrenia have a genetic basis, but environmental factors also play a significant role in their etiopathogenesis. One of them may be an infectious disease in the mother during pregnancy. This is indicated mainly by the epidemiological studies, in which a prenatal infection has been shown to increase under certain circumstances the risk of ASD and schizophrenia in the offspring. Animal experiments indicate that the immune response of the mother plays a key role here, especially in the form of a cytokine storm. However, the resulting effect of the prenatal infection depends on several risk and protective factors on the side of the mother and the fetus, as well as on the characteristics of the infections. In case of COVID-19, due to the shortness of time, such studies are absent, however, due to its infectious nature, and predominantly its high prevalence rates, it is reasonable to consider this disease as a potential risk. The objective of our paper was to summarize results of epidemiological and animal studies in respect to other infections and, based on that, to analyse whether COVID-19 during pregnancy represents a risk for the development of ASD or schizophrenia in the offspring.
- MeSH
- COVID-19 patologie MeSH
- cytokiny analýza fyziologie MeSH
- infekční komplikace v těhotenství * imunologie patologie MeSH
- lidé MeSH
- modely u zvířat MeSH
- myši MeSH
- poruchy autistického spektra * etiologie MeSH
- rizikové faktory MeSH
- schizofrenie etiologie MeSH
- zpožděný efekt prenatální expozice imunologie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- práce podpořená grantem MeSH
Autism spectrum disorder is a heterogeneous neurodevelopmental disease. Currently, no biomarker of this disease is known. Diagnosis is performed through observation, standardized behavioral scales, and interviews with parents. In practice, diagnosis is often delayed to the average age of four years or even more which adversely affects a child's perspective. A laboratory method allowing to detect the disorder at earlier stages is of a great need, as this could help the patients to start with treatment at a younger age, even prior to the clinical diagnosis. Recent evidence indicates that metabolomic markers should be considered as diagnostic markers, also serving for further differentiation and characterization of different subgroups of the autism spectrum. In this study, we developed an ultra-high performance liquid chromatography-tandem triple quadrupole mass spectrometry method for the simultaneous determination of six metabolites in human urine. These metabolites, namely methylguanidine, N-acetyl arginine, inosine, indole-3-acetic acid, indoxyl sulfate and xanthurenic acid were selected as potential biomarkers according to prior metabolomic studies. The analysis was carried out by means of reversed-phase liquid chromatography with gradient elution. Separation of the metabolites was performed on a Phenomenex Luna® Omega Polar C18 (100 × 1.0 mm, 1.6 µm) column at a flow rate of 0.15 mL/min with acetonitrile/water 0.1% formic acid aqueous as the mobile phase. The analysis was performed on a group of children with autism spectrum disorder and age-matched controls. In school children, we have detected disturbances in the levels of oxidative stress markers connected to arginine and purine metabolism, namely methylguanidine and N-acetylargine. Also, products of gut bacteria metabolism, namely indoxyl sulfate and indole-3-acetic acid, were found to be elevated in the patients' group. We can conclude that this newly developed method is fast, sensitive, reliable, and well suited for the quantification of proposed markers.
- Publikační typ
- časopisecké články MeSH
Autism spectrum disorder (ASD) is a neurodevelopmental condition with increasing incidence. Recent evidences suggest glial cells involvement in autism pathophysiology. S100B is a calcium binding protein, mainly found in astrocytes and therefore used as a marker of their activity. In our study, children with autism had higher plasma concentrations of S100B compared to non-autistic controls. No association of S100B plasma levels with behavioral symptoms (ADI-R and ADOS-2 scales) was found. Plasma S100B concentration significantly correlated with urine serotonin, suggesting their interconnection. Correlation of plasma S100B levels with stool calprotectin concentrations was found, suggesting not only brain astrocytes, but also enteric glial cells may take part in autism pathogenesis. Based on our findings, S100B seems to have a potential to be used as a biomarker of human neurodevelopmental disorders, but more investigations are needed to clarify its exact role in pathomechanism of autism.
- MeSH
- autistická porucha krev moč MeSH
- dítě MeSH
- feces chemie MeSH
- leukocytární L1-antigenní komplex analýza MeSH
- lidé MeSH
- předškolní dítě MeSH
- S-100 kalcium vázající protein G, podjednotka beta krev MeSH
- serotonin moč MeSH
- studie případů a kontrol MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
Biomechanical properties of erythrocytes play an important role in health and disease. Deformability represents intrinsic property of erythrocytes to undergo deformation that is crucial for their passage through the narrow capillaries. The erythrocyte damage can lead to compromised tissue perfusion and consequently play a role in the pathogenesis of various diseases including neurological ones. Data available in databases indicate that erythrocytes in autism spectrum disorder (ASD) are altered. This may affect the clinical symptoms of ASD. The aim of our study was to determine erythrocyte deformability in 54 children with ASD and correlate it with clinical symptoms. We found significant negative correlation between erythrocyte deformability and score in C domain of the Autism Diagnostic Interview-Revised (ADI-R) diagnostic tool describing the measure of restrictive, repetitive, and stereotyped behaviors and interests, mainly observable in C1 and C2, but not in C3 and C4 subdomains. This supports the findings of other authors and suggest that behavioral domain C comprises of more subcategories with different underlying etiology. Our results also indicate that abnormalities in erythrocyte deformability may be involved in ASD pathomechanisms and contribute to its clinical manifestation. Further research is necessary to bring more data and identify erythrocyte deformability as prognostic biomarker in ASD.
Adekvátny príjem kvalitatívne i kvantitatívne vyváženej potravy je u detí a adolescentov nevyhnutný pre zdravý psychosomatický vývin. V súčasnosti sa pozornosť odborníkov zameriava najmä na prevenciu nadmerného prísunu kalórii u detí, napriek tomu však podľa výskumov 3–4 % detí trpí závažným odmietaním jedla bez známej somatickej príčiny, označovaným ako psychogénna strata chuti do jedla. V liečbe tejto poruchy sa v súčasnosti najčastejšie uplatňuje „vyčkávacia“ metóda, preukázalo sa však, že najúčinnejšou intervenciou sú techniky založené na behaviorálnej terapii. Cieľom našej práce je popísať základné etiologické aspekty psychogénnej straty chuti do jedla a prezentovať techniky, ktoré sa vo svete najviac využívajú v psychoterapii tejto poruchy. Techniky vychádzajú najmä z princípov behaviorálnej terapie, pričom cieľom je primárne zmena správania. Poznanie a využívanie týchto stratégii má význam nielen pre vedeckú komunitu, ale aj klinických pracovníkov a rodičov.
Adequate intake of qualitatively and quantitatively balanced food is essential for healthy psychosomatic development of children and adolescents. At present time, the experts focus mostly on excessive calorie intake, due to high obesity prevalence in children. However, according to current knowledge 3-4% of children suffer from severe food refusal without a known somatic cause, referred to as avoidant/restrictive food intake disorder, or psychogenic loss of appetite. The “wait-and-see” method is currently the most commonly used in the management of this disorder, but the most effective intervention has been shown to be techniques based on behavioral therapy. The aim of our work is to describe the main etiological aspects of the avoidant/restrictive food intake disorder and to introduce methods that are most effective for its treatment. These methods are based primarily on behavioral therapy principles, where our goal is the behavioral change. Knowledge and application of these strategies is important for not only scientific community, but also for clinical professionals and parents.
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, as well as repetitive behavior and restricted interests. There is convincing evidence that the intestinal inflammation is involved in etiology of ASD. Increased levels of inflammatory markers were shown to be associated with more aberrant behaviors and communication of subjects with ASD. Calprotectin in the feces is produced by activated neutrophils and epithelial cells of the gut mucosa, and its levels reflect local inflammation of the gastrointestinal tract. Concentration of fecal calprotectin was determined by ELISA method in 87 individuals with ASD and 51 controls, of that 29 siblings of children with ASD and 22 non-related controls. In non-relatives significantly lower values of fecal calprotectin were observed than in both subjects with ASD and their siblings. In the group with ASD significant correlations of fecal calprotectin with all domains of the ADI-R diagnostic tool were found: qualitative abnormalities in reciprocal social interaction and communication, restrictive and repetitive patterns of behavior. Results suggest that low grade intestinal inflammation may be one of factors implicated in the pathophysiology of ASD.
- MeSH
- dítě MeSH
- ELISA metody MeSH
- feces * chemie MeSH
- interpersonální vztahy * MeSH
- leukocytární L1-antigenní komplex analýza metabolismus MeSH
- lidé MeSH
- mladiství MeSH
- neuropsychologické testy * MeSH
- poruchy autistického spektra diagnóza epidemiologie metabolismus MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- zánět diagnóza epidemiologie metabolismus MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovenská republika epidemiologie MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- MeSH
- autistická porucha etiologie mikrobiologie patofyziologie MeSH
- chování fyziologie MeSH
- depresivní poruchy patofyziologie MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- fyziologický stres fyziologie MeSH
- gastrointestinální trakt fyziologie inervace MeSH
- lidé MeSH
- mikrobiota * fyziologie MeSH
- mozek * fyziologie patofyziologie růst a vývoj MeSH
- nervus vagus fyziologie imunologie MeSH
- prebiotika MeSH
- probiotika terapeutické užití MeSH
- psychický stres patofyziologie MeSH
- střeva * fyziologie inervace mikrobiologie patofyziologie MeSH
- střevní nervový systém fyziologie patofyziologie MeSH
- zvířata MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- zvířata MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
- Publikační typ
- abstrakt z konference MeSH
