Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males.

There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a postzygotic mosaic mutation p.Q639* in the TRAP1 gene, which encodes a mitochondrial chaperone of the HSP90 family.

Analysis of Autistic Adolescents' Essays Using Computer Techniques.

Purpose: Challenges associated with narrative discourse remain consistently observable across the entire spectrum of autism. We analyzed written narratives by autistic and non-autistic adolescents and aimed to investigate narrative writing using quantitative computational methods.

Methods: We employed Natural Language Processing techniques to compare 333 essays from students in the final eighth grade of primary school: 195 written by autistic and 138 by non-autistic participants.

A cross-dataset study on automatic detection of autism spectrum disorder from text data.

Objective: The goals of this article are as follows. First, to investigate the possibility of detecting autism spectrum disorder (ASD) from text data using the latest generation of machine learning tools. Second, to compare model performance on two datasets of transcribed statements, collected using two different diagnostic tools.

Detecting autism from picture book narratives using deep neural utterance embeddings.

Background: Deficits in the ability to use language in social contexts, including storytelling skills, are observed across the autism spectrum. Development in machine-learning approaches may contribute to clinical psychology and psychiatry, given its potential to support decisions concerning the diagnosis and treatment of psychiatric conditions and disorders.

Aims: To evaluate the usefulness of deep neural networks for detecting autism spectrum disorder (ASD) from textual utterances, specifically from narrations produced by individuals with ASD.

Social language in autism spectrum disorder: A computational analysis of sentiment and linguistic abstraction.

Individuals with autism spectrum disorder (ASD) demonstrate impairments with pragmatic (social) language, including narrative skills and conversational abilities. We aimed to quantitatively characterize narrative performance in ASD using natural language processing techniques: sentiment and language abstraction analyses based on the Linguistic Category Model. Individuals with ASD and with typical development matched for age, gender, ethnicity, and verbal and nonverbal intelligence quotients produced language samples during two standardized tasks from the Autism Diagnostic Observation Schedule, Second Edition assessment: Telling a Story from a Book and Description of a Picture.

Adaptation and psychometric properties of the Polish version of the Short Sensory Profile 2.

The article presents findings from the validation of the Polish version of the Short Sensory Profile, 2nd edition (SSP-2-PL).A total of 1230 participants were recruited: 310 diagnosed with autism spectrum disorder (ASD), 264 with nonspectrum neurodevelopmental disorders, and 656 typically developing (TD). The reliability and validity of the questionnaire were estimated using several methods, including internal consistency, test-retest, and factor analysis.

Cross-Cultural Validation of the Polish Version of the ADI-R, Including New Algorithms for Toddlers and Young Preschoolers.

Autism Diagnostic Interview-Revised (ADI-R) is one of the most widely used standardized diagnostic instruments for autism spectrum disorder (ASD). This article presents findings from the validation of the Polish version of the Autism Diagnostic Interview-Revised (ADI-R-PL), including new algorithms for toddlers and preschoolers. The validation group consisted of 125 participants: 65 with Autism Spectrum Disorder (ASD group) and 60 in the control group, including individuals with non-ASD disorders and typical development.

Adaptation and Validation of the ADOS-2, Polish Version.

Autism Diagnostic Observation Schedule (ADOS) is one of the most popular instruments used world-widely in the diagnosis of autism spectrum disorders (ASD). Unfortunately, there are only a few studies of the psychometric properties of non-English language versions of this instrument and none of the adaptation of its second edition (ADOS-2). The objective of this study was to verify the psychometric properties of the Polish version of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2-PL).

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral.

Autism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite common features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prenatal, perinatal and neonatal period.

[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis].

In the new classification of American Psychiatric Association - DSM-5 - a category of autistic spectrum disorders (ASD) was introduced, which replaced autistic disorder, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified. ASD are defined by two basic psychopathological dimensions: communication disturbances and stereotyped behaviors, and the diagnosis is complemented with the assessment of language development and intellectual level. In successive epidemiological studies conducted in 21 century the prevalence of ASD has been rising, and currently is estimated at 1% in general population.

Neural correlates of own name and own face detection in autism spectrum disorder.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition clinically characterized by social interaction and communication difficulties. To date, the majority of research efforts have focused on brain mechanisms underlying the deficits in interpersonal social cognition associated with ASD. Recent empirical and theoretical work has begun to reveal evidence for a reduced or even absent self-preference effect in patients with ASD.

[Polish version of the ADOS (autism diagnostic observation schedule-generic)].

The article presents the Polish version of the autism diagnostic observation schedule-generic (ADOS), which together with the autism diagnostic interview-revised (ADI-R) is cited as the "gold standard" for the diagnosis of autism. The ADOS is a standardised, semistructured observation protocol appropriate for children and adults of differing age and language levels. It is linked to ICD-10 and DSM-IV-TR criteria.

[Polish version of the ADI-R (Autism Diagnostic Interview-Revised)].

Childhood autism belongs to pervasive developmental disorders and is characterised by qualitative abnormalities in reciprocal social interactions, communication, and by restricted, repetitive interests and behaviours. Until now there was no standardised tool for a diagnosis of autism in Poland. The paper presents the Polish version of the Autism Diagnostic Interview - Revised (ADI-R), which is the "gold standard" for the diagnosis of autism in Europe, United States and Australia.