• 1. MARCH 2017
    • 0
    What is the evidence of mitochondrial dysfunction in autism spectrum disorders?

    What is the evidence of mitochondrial dysfunction in autism spectrum disorders?

    AUTORI: Babinská, K., Repiská, G., Gvozdjáková, A., Kucharská, J., Vokálová, L., Vidošovičová, M., Ostatníková,D.

    ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impairments in social interaction and communication, combined with restricted and stereotyped patterns of behaviour and interests. There is an array of comorbid conditions associated with ASD. It has been suggested that ASD may be a systemic disorder, rather than only a dysfunction of the central nervous system. Mitochondria are organelles found in almost all cells of the human body; essential for basic cellular functions. Multiple studies have shown mitochondrial dysfunction (MD) in the brain, also in the peripheral tissues of individuals with ASD. It has been estimated that the prevalence of classic mitochondrial disease in ASD population is 5%; however, about 50% of children with ASD may present some abnormalities in markers of mitochondrial functions. Interactions between mitochondrial dysfunction and other underlying pathology of ASD were found, such as oxidative stress or immune dysregulation. Existing data indicate that mitochondrial dysfunction is implicated in pathology of ASD, at least in a subgroup of the patients. The evidence, however, is still only patchy. Advances in understanding of the involvement of mitochondrial dysfunction in ASD could be a step towards better understanding of the pathophysiology of ASD, and unravelling the role of mitochondria in ASD could open new prospectives for diagnostics and therapeutic interventions. There is a need to find a valid biomarker of mitochondrial dysfunction in ASD and to develop standardized procedures to identify the individuals with ASD and MD, who might mostly profit from an intervention.

    Activitas Nervosa Superior Rediviva. – Vol. 59, No. 2 (2017), s. 39-44. – ISSN (print) 1337-933X

    http://www.rediviva.sav.sk/59i2/39.pdf

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    • 12. FEBRUARY 2017
    • 0

    SPOLUPRÁCA s NÚDCH

    V roku 2013 Lekárska fakulta Univerzity Komenského Bratislava podpísala zmluvu s Národným ústavom detských chorôb (t.č. Detská fakultná nemocnica s poliklinikou Bratislava) . Predmetnom zmluvy je poskytovanie autistickým pacientom, resp. ich rodičom, ktorý absolvujú diagnostiku v Akademickom centre výskumu autizmu kontakt na špecialistov z NÚDCH, v príslušnom medicínskom odbore. NÚDCH poskytne spätnú väzbu o diagnóze a liečbe detí, ktoré boli odporúčané na odborné

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    • 12. FEBRUARY 2017
    • 0

    SPOLUPRÁCA s NÚDCH

    V roku 2013 Lekárska fakulta Univerzity Komenského Bratislava podpísala zmluvu s Národným ústavom detských chorôb (t.č. Detská fakultná nemocnica s poliklinikou Bratislava) . Predmetnom zmluvy je poskytovanie autistickým pacientom, resp. ich rodičom, ktorý absolvujú diagnostiku v Akademickom centre výskumu autizmu kontakt na špecialistov z NÚDCH, v príslušnom medicínskom odbore. NÚDCH poskytne spätnú väzbu o diagnóze a liečbe detí, ktoré boli odporúčané na odborné

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    • 1. NOVEMBER 2016
    • 0
    Testosterone and Androgen Receptor Sensitivity in Relation to Hyperactivity Symptoms in Boys with Autism Spectrum Disorders

    Testosterone and Androgen Receptor Sensitivity in Relation to Hyperactivity Symptoms in Boys with Autism Spectrum Disorders

    AUTHORS: Pivovarciova, A., Durdiakova, J., Babinska, K., Kubranska, A., Vokalova, L., Minarik, G., Celec, P., Murin, M. and Ostatnikova, D.

    ABSTRACT: Introduction: Autism spectrum disorders (ASD) and hyperactivity symptoms exhibit an incidence that is male-biased. Thus androgen activity can be considered a plausible biological risk factor for these disorders. However, there is insufficient information about the association between increased androgen activity and hyperactivity symptoms in children with ASD.
    Methods: In the present study, the relationship between parameters of androgenicity (plasmatic testosterone levels and androgen receptor sensitivity) and hyperactivity in 60 boys (age 3–15) with ASD is investigated. Given well documented differences in parent and trained examiners ratings of symptom severity, we employed a standardized parent`s questionnaire (Nisonger Child Behavior Rating Form) as well as a direct examiner`s rating (Autism diagnostic observation schedule) for assessment of hyperactivity symptoms.
    Results: Although it was found there was no significant association between actual plasmatic testosterone levels and hyperactivity symptoms, the number of CAG triplets was significantly negatively correlated with hyperactivity symptoms (R2 = 0.118, p = 0.007) in the sample, indicating increased androgen receptor sensitivity in association with hyperactivity symptoms. Direct trained examiner´s assessment appeared to be a relevant method for evaluating of behavioral problems in the investigation of biological underpinnings of these problems in our study.
    Conclusions: A potential ASD subtype characterized by increased rates of hyperactivity symptoms might have distinct etiopathogenesis and require a specific behavioral and pharmacological approach. We propose an increase of androgen receptor sensitivity as a biomarker for a specific ASD subtype accompanied with hyperactivity symptoms. Findings are discussed in terms of their implications for practice and future research.

    PLoS One, 2016. 11(2): p. e0149657.

    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0149657

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