1. Impaired neurodevelopmental genes in Slovenian autistic children elucidate the comorbidity of autism with other developmental disordersDanijela Krgović, Mario Gorenjak, Nika Rihar, Iva Opalič, Špela Stangler Herodež, Hojka Gregorič Kumperščak, Peter Dovč, Nadja Kokalj-Vokač, 2022, izvirni znanstveni članek Opis: Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or “single event” variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or “single event” variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype–phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or “single event” variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.
Ključne besede: reverse phenotyping, single event variants, NDD-associated genes, GRIA1 gene, NR4A2 gene, SIN3B gene, autism, child
Objavljeno v DKUM: 12.12.2024; Ogledov: 0; Prenosov: 0
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2. The impact of primary schools’ inclusiveness on the inclusion of students with autism spectrum disorderMateja Šilc, Miran Lavrič, Majda Schmidt, 2024, izvirni znanstveni članek Opis: The inclusion of students with autism spectrum disorder (ASD) is a complex issue for schools. This study investigates the impact of the inclusivity of Slovenian primary schools on the inclusion of their students with ASD. We postulated that each pedagogical dimension of inclusion (i.e., academic, social, and emotional inclusion) of students with ASD would demonstrate a positive correlation with each dimension of inclusiveness of primary schools (i.e., inclusive culture, policy, and practice). Forty regular Slovenian elementary schools participated in the research. The Perceptions of Inclusion Questionnaire was completed by 200 respondents (40 students with ASD, 40 parents, 120 teachers), and the Index for inclusion by 240 respondents (40 parents, 200 school professionals). The analysis revealed one significant correlation, a weak positive correlation between inclusive practice and academic inclusion. Multiple regression analyses also identified one conditionally substantial pair. When we excluded the inclusive culture and policy and only considered the control of demographic variables, the results showed that the increase in inclusive practices corresponds to the increase in academic inclusion. The absence of correlations between the dimensions of school inclusivity and the pedagogical dimensions of including students with ASD can be attributed to the lack of systemic solutions for accommodating a diverse student population and the failure to conduct a thorough analysis of the inclusion and implementation of whole-school approaches. However, the Slovenian adaptation of the Index for Inclusion, a promising tool, offers hope in addressing these challenges.
Ključne besede: social inclusion, academic inclusion, emotional inclusion, inclusive policies, inclusive cultures, inclusive practices, autism
Objavljeno v DKUM: 02.08.2024; Ogledov: 93; Prenosov: 25
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3. Depression, anxiety, stress, and coping mechanisms among parents of children with autism spectrum disorderAjda Demšar, Karin Bakračevič, 2023, izvirni znanstveni članek Opis: The purpose of the present study was to determine the level of stress, anxiety, and depression among Slovenian parents of children with autism spectrum disorder and their coping mechanisms. The study included 42 parents of children with ASD who were enrolled at a specialised clinic for children with hearing and speech difficulties. We used the Depression Anxiety Stress Scales (DASS), the Coping Orientation to Problems Experienced (COPE) inventory, and a demographic questionnaire which included questions on satisfaction with life and social support received. The respondents reported no clinically elevated levels of stress, depression or anxiety. However, the mothers reported more stress and anxiety related symptoms then did the fathers. The results showed that coping strategies of positive reinterpretation and growth were positively correlated to higher perceived social support and greater satisfaction with life, and were negatively correlated with depression and anxiety. Perceived social support was highly negatively correlated with anxiety. Strategies of acceptance were used significantly more often by individuals with a higher level of education.
Ključne besede: anxiety, autism spectrum disorders, stress coping, parents, social support
Objavljeno v DKUM: 31.05.2024; Ogledov: 176; Prenosov: 10
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4. Promoting Social Skills in Young Autistic Learners through Story Reading in Inclusive Settings : m. a. thesisTjaša Tomše, 2023, magistrsko delo Opis: Using storybooks as a teaching tool has proved an effective teaching and learning technique that aids in developing and enhancing vocabulary, promotes reading and comprehension skills and even fosters social skills in learners with different needs and abilities. Developing and enhancing key social skills is all the more important for learners diagnosed with autism. Autistic learners experience deficits in social interaction and communication, struggle with fear of the unknown, have constant need for sameness, and might encounter sensory hypo- and hypersensitivities. Promoting social skills has been shown to significantly alleviate social difficulties in children with autism, and one of the successful social skills teaching and intervention methods for learners diagnosed with autism is – according to Amy Bohlander et al. and other researchers in the field – storybook reading. The theoretical part of the thesis aims at presenting key features of autistic behavior correlated with the neuroimaging findings on the irregular functioning of certain parts of the autistic brain; addressing effective inclusion strategies for teaching (young) autistic learners enrolled in general education settings, and discussing the characteristics that constitute a potentially appropriate storybook for use with young autistic learners in inclusive story reading lessons. The empirical part provides a descriptive analysis of ten storybooks, which offer a step-by-step guidance on how to cope with (a) socially challenging situation(s) and were not specifically adapted for learners with autism. The results of the storybook analysis have shown that the storybooks are mainly appropriate for promoting social skills in young autistic learners, whereby the number of storybooks classified as fully appropriate equals the number of partially appropriate items. However, to ensure a quality inclusive story reading experience that allows for effective, autism-friendly social skills teaching, the teacher or story reader needs to consider meeting the adaptation requirements for each storybook, irrespective of its classification, and identify the autistic individual´s unique set of weaknesses, enhanced abilities and (anti-)social behavior patterns prior to selecting a storybook for a group story reading.
Ključne besede: autism, inclusive education, social skills teaching, storybooks, story reading
Objavljeno v DKUM: 16.11.2023; Ogledov: 492; Prenosov: 27
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5. Defamiliarization of social norms and breaking stereotypes on autism in The Speed of DarkŠpela Pačnik, 2012, diplomsko delo Opis: Lately there has been a visible increase in the number of fictional autistic characters. These representations of autism, on the one hand, help in spreading the awareness of autism among people, but may also lead to false beliefs about autistic society, on the other. The thesis is an attempt to explore the way Elizabeth Moon represents the autistic mind in her novel The Speed of Dark. I will examine how the literary technique of defamiliarization contributes to her highly realistic portrayal of an individual with autism, especially to the way he perceives social norms. I will also prove that her novel challenges several stereotypes about autism.
Ključne besede: representations of autism, defamiliarization, social norms, stereotypes
Objavljeno v DKUM: 11.06.2012; Ogledov: 2161; Prenosov: 105
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