The current state of the problem of autism spectrum disorders — some biomedical and socio-humanitarian aspects

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Abstract

The review deals with modern factors of the etiology and pathogenesis of autism, which is part of the autism spectrum disorder complex, approaches to the diagnosis and rehabilitation of patients, as well as social and humanitarian aspects of understanding this pathology as a phenomenon. Despite the fact that so far there is no single etiological concept of the development of autism, a sufficient amount of information has been accumulated that allows talking about genetic theory as one of the main causes of its occurrence. The functions of the main genes in which mutations can lead to the development of autism are examined in more detail, and its genomic architecture is established to be heterogeneous, that is, it is determined by polymorphism in several genes at once, and the disorder is aggravated when polymorphisms are combined with external risk factors. Some current aspects of the diagnosis of autism are outlined, including the main criteria — a persistent lack of social communication and social interactions, limited, repetitive forms of behavior, speech impairment. The main diagnostic questionnaires and rating scales used for the more accurate diagnosis and verification of autism spectrum disorders are presented. When considering the treatment and rehabilitation of patients with autism and other disorders of the autism spectrum, it was concluded that integrated approach including various methods of psychological, pedagogical and medical correction, as well as social adaptation and integration is the most effective. Studies in the social sciences are presented that examine autism spectrum disorders within the framework of social constructivism, the role of the social context in identifying and treating autism is shown, as well as the impact of medical discourse on stigmatization and discrimination of the autistic community. The approaches to the conceptualization of autism in the framework of the theory and movement of neurodiversification, representing autism as a form of biological diversity that requires a positive identity of autistic people and the recognition of their differences by society, are highlighted.

About the authors

I I Semina

Kazan State Medical University

Author for correspondence.
Email: seminai@mail.ru
SPIN-code: 4385-3650
Russian Federation, Kazan, Russia

L M Mukharyamova

Kazan State Medical University

Email: seminai@mail.ru
Russian Federation, Kazan, Russia

I S Sabirov

Kazan State Medical University

Email: seminai@mail.ru
Russian Federation, Kazan, Russia

E V Valeeva

Kazan State Medical University

Email: seminai@mail.ru
Russian Federation, Kazan, Russia

L R Safiullina

Kazan State Medical University

Email: seminai@mail.ru
Russian Federation, Kazan, Russia

D O Nikitin

Kazan State Medical University

Email: seminai@mail.ru
SPIN-code: 3132-2628
Russian Federation, Kazan, Russia

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