Search results for: adolescence autism

Authors: Vivienne Cameron

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Background: Between 2010 and 2017, teachers in a suburban public school district struggled to get students to consistently produce adequate writing samples as measured by the Pennsylvania state writing rubric for measuring focus, content, organization, style, and conventions. A common thread in all of the data was the need to develop stamina in the student writers. Method: All of the teachers used the traditional writing process model (prewrite, draft, revise, edit, final copy) during writing instruction. One teacher taught the writing process using word processing and incentivizing with publication instead of the traditional pencil/paper/grading method. Students did not have instruction in typing/keyboarding. The teacher submitted resulting student work to real-life contests, magazines, and publishers. Results: Students in the test group increased both the quantity and quality of their writing over a seven month period as measured by the Pennsylvania state writing rubric. Reluctant writers, as well as students with autism spectrum disorder, benefited from this approach. This outcome was repeated consistently over a five-year period. Interpretation: Removing the burden of pencil and paper allowed students to participate in the writing process more fully. Writing with pencil and paper is physically tiring. Students are discouraged when they submit a draft and are instructed to use the Add, Remove, Move, Substitute (ARMS) method to revise their papers. Each successive version becomes shorter. Allowing students to type their papers frees them to quickly and easily make changes. The result is longer writing pieces in shorter time frames, allowing the teacher to spend more time working on individual needs. With this additional time, the teacher can concentrate on teaching focus, content, organization, style, conventions, and audience. S/he also has a larger body of works from which to work on whole group instruction such as developing effective leads. The teacher submitted the resulting student work to contests, magazines, and publishers. Although time-consuming, the submission process was an invaluable lesson for teaching about audience and tone. All students in the test sample had work accepted for publication. Students became highly motivated to succeed when their work was accepted for publication. This motivation applied to special needs students, regular education students, and gifted students.

Keywords: elementary-age students, reluctant writers, teaching strategies, writing process

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Authors: Blaga Alexandra Cristina, Kloetzer Lenuta, Bompa Amalia Stela, Galaction Anca Irina, Cascaval Dan

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Vitamin B9 is an important member of vitamins B group, being a growth factor, important for making genetic material as DNA and RNA, red blood cells, for building muscle tissues, especially during periods of infancy, adolescence and pregnancy. Its production by biosynthesis is based on the high metabolic potential of mutant Bacillus subtilis, due to a superior biodisponibility compared to that obtained by chemical pathways. Pertraction, defined as the extraction and transport through liquid membranes consists in the transfer of a solute between two aqueous phases of different pH-values, phases that are separated by a solvent layer of various sizes. The pertraction efficiency and selectivity could be significantly enhanced by adding a carrier in the liquid membrane, such as organophosphoric compounds, long chain amines or crown-ethers etc., the separation process being called facilitated pertraction. The aim of the work is to determine the impact of the presence of two extractants/carriers in the bulk liquid membrane, i.e. di(2-ethylhexyl) phosphoric acid (D2EHPA) and lauryltrialkylmetilamine (Amberlite LA2) on the transport kinetics of vitamin B9. The experiments have been carried out using two pertraction equipments for a free liquid membrane or bulk liquid membrane. One pertraction cell consists on a U-shaped glass pipe (used for the dichloromethane membrane) and the second one is an H-shaped glass pipe (used for h-heptane), having 45 mm inner diameter of the total volume of 450 mL, the volume of each compartment being of 150 mL. The aqueous solutions are independently mixed by means of double blade stirrers with 6 mm diameter and 3 mm height, having the rotation speed of 500 rpm. In order to reach high diffusional rates through the solvent layer, the organic phase has been mixed with a similar stirrer, at a similar rotation speed (500 rpm). The area of mass transfer surface, both for extraction and for reextraction, was of 1.59x10-³ m2. The study on facilitated pertraction with the mixture of two carriers, namely D2EHPA and Amberlite LA-2, dissolved in two solvents with different polarities: n-heptane and dichloromethane, indicated the possibility to obtain the synergic effect. The synergism has been analyzed by considering the vitamin initial and final mass flows, as well as the permeability factors through liquid membrane. The synergic effect has been observed at low D2EHPA concentrations and high Amberlite LA-2 concentrations, being more important for the low-polar solvent (n-heptane). The results suggest that the mechanism of synergic pertraction consists on the reaction between the organophosphoric carrier and vitamin B9 at the interface between the feed and membrane phases, while the aminic carrier enhances the hydrophobicity of this compound by solvation. However, the formation of this complex reduced the reextraction rate and, consequently, affects the synergism related to the final mass flows and permeability factor. For describing the influences of carriers concentrations on the synergistic coefficients, some equations have been proposed by taking into account the vitamin mass flows or permeability factors, with an average deviations between 4.85% and 10.73%.

Keywords: pertraction, synergism, vitamin B9, Amberlite LA-2, di(2-ethylhexyl) phosphoric acid

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Authors: Hannah Edwards, Femke T. A. Buisman-Pijlman, Adrian Esterman, Craig Phillips, Sandra Orgeig, Andrea Gordon

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Mother-infant bonding is a term which refers to the early emotional connectedness between a mother and her infant. Strong mother-infant bonding promotes higher quality mother and infant interactions including prolonged breastfeeding, secure attachment and increased sensitive parenting and maternal responsiveness. Strengthening of all such interactions leads to improved social behavior, and emotional and cognitive development throughout childhood, adolescence and adulthood. The positive outcomes observed following strong mother-infant bonding emphasize the need to screen new mothers for disrupted mother-infant bonding, and in turn the need for a robust, valid tool to assess mother-infant bonding. A recent scoping review conducted by the research team identified four tools to assess mother-infant bonding, all of which employed self-rating scales. Thus, whilst these tools demonstrated both adequate validity and reliability, they rely on self-reported information from the mother. As such this may reflect a mother’s perception of bonding with their infant, rather than their actual behavior. Therefore, a new tool to assess mother-infant bonding has been developed. The Recorded Interaction Task (RIT) addresses shortcomings of previous tools by employing observational methods to assess bonding. The RIT focusses on the common interaction between mother and infant of changing a nappy, at the target age of 2-6 months, which is visually recorded and then later assessed. Thirteen maternal and seven infant behaviors are scored on the RIT Observation Scoring Sheet, and a final combined score of mother-infant bonding is determined. The aim of the current study was to assess the content validity and inter-rater reliability of the RIT. A panel of six experts with specialized expertise in bonding and infant behavior were consulted. Experts were provided with the RIT Observation Scoring Sheet, a visual recording of a nappy change interaction, and a feedback form. Experts scored the mother and infant interaction on the RIT Observation Scoring Sheet and completed the feedback form which collected their opinions on the validity of each item on the RIT Observation Scoring Sheet and the RIT as a whole. Twelve of the 20 items on the RIT Observation Scoring Sheet were scored ‘Valid’ by all (n=6) or most (n=5) experts. Two items received a ‘Not valid’ score from one expert. The remainder of the items received a mixture of ‘Valid’ and ‘Potentially Valid’ scores. Few changes were made to the RIT Observation Scoring Sheet following expert feedback, including rewording of items for clarity and the exclusion of an item focusing on behavior deemed not relevant for the target infant age. The overall ICC for single rater absolute agreement was 0.48 (95% CI 0.28 – 0.71). Experts (n=6) ratings were less consistent for infant behavior (ICC 0.27 (-0.01 – 0.82)) compared to mother behavior (ICC 0.55 (0.28 – 0.80)). Whilst previous tools employ self-report methods to assess mother-infant bonding, the RIT utilizes observational methods. The current study highlights adequate content validity and moderate inter-rater reliability of the RIT, supporting its use in future research. A convergent validity study comparing the RIT against an existing tool is currently being undertaken to confirm these results.

Keywords: content validity, inter-rater reliability, mother-infant bonding, observational tool, recorded interaction task

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Authors: Rami Hashish, Manon Limousis-Gayda, Caitlin H. McCleery

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Introduction: A leading cause of emergency room visits among youth (in the United States), is sports-related traumatic brain injuries. Mild traumatic brain injuries (mTBIs), also called concussions, are caused by linear and/or angular acceleration experienced at the head and represent an increasing societal burden. Due to the developing nature of the brain in youth, there is a great risk for long-term neuropsychological deficiencies following a concussion. Accordingly, the purpose of this paper is to investigate incidence rates of concussion across gender for the five most common youth sports in the United States. These include basketball, track and field, soccer, baseball (boys), softball (girls), football (boys), and volleyball (girls). Methods: A PubMed search was performed for four search themes combined. The first theme identified the outcomes (concussion, brain injuries, mild traumatic brain injury, etc.). The second theme identified the sport (American football, soccer, basketball, softball, volleyball, track, and field, etc.). The third theme identified the population (adolescence, children, youth, boys, girls). The last theme identified the study design (prevalence, frequency, incidence, prospective). Ultimately, 473 studies were surveyed, with 15 fulfilling the criteria: prospective study presenting original data and incidence of concussion in the relevant youth sport. The following data were extracted from the selected studies: population age, total study population, total athletic exposures (AE) and incidence rate per 1000 athletic exposures (IR/1000). Two One-Way ANOVA and a Tukey’s post hoc test were conducted using SPSS. Results: From the 15 selected studies, statistical analysis revealed the incidence of concussion per 1000 AEs across the considered sports ranged from 0.014 (girl’s track and field) to 0.780 (boy’s football). Average IR/1000 across all sports was 0.483 and 0.268 for boys and girls, respectively; this difference in IR was found to be statistically significant (p=0.013). Tukey’s post hoc test showed that football had significantly higher IR/1000 than boys’ basketball (p=0.022), soccer (p=0.033) and track and field (p=0.026). No statistical difference was found for concussion incidence between girls’ sports. Removal of football was found to lower the IR/1000 for boys without a statistical difference (p=0.101) compared to girls. Discussion: Football was the only sport showing a statistically significant difference in concussion incidence rate relative to other sports (within gender). Males were overall more likely to be concussed than females when football was included (1.8x), whereas concussion was more likely for females when football was excluded. While the significantly higher rate of concussion in football is not surprising because of the nature and rules of the sport, it is concerning that research has shown higher incidence of concussion in practices than games. Interestingly, findings indicate that girls’ sports are more concussive overall when football is removed. This appears to counter the common notion that boys’ sports are more physically taxing and dangerous. Future research should focus on understanding the concussive mechanisms of injury in each sport to enable effective rule changes.

Keywords: gender, football, soccer, traumatic brain injury

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Authors: Mir Jalil Razavi, Tianming Liu, Xianqiao Wang

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Cortical folding, characterized by convex gyri and concave sulci, has an intrinsic relationship to the brain’s functional organization. Understanding the mechanism of the brain’s convoluted patterns can provide useful clues into normal and pathological brain function. During the development, the cerebral cortex experiences a noticeable expansion in volume and surface area accompanied by tremendous tissue folding which may be attributed to many possible factors. Despite decades of endeavors, the fundamental mechanism and key regulators of this crucial process remain incompletely understood. Therefore, to taking even a small role in unraveling of brain folding mystery, we present a mechanical model to find mechanism of 3-hinges formation in a growing brain that it has not been addressed before. A 3-hinge is defined as a gyral region where three gyral crests (hinge-lines) join. The reasons that how and why brain prefers to develop 3-hinges have not been answered very well. Therefore, we offer a theoretical and computational explanation to mechanism of 3-hinges formation in a growing brain and validate it by experimental observations. In theoretical approach, the dynamic behavior of brain tissue is examined and described with the aid of a large strain and nonlinear constitutive model. Derived constitute model is used in the computational model to define material behavior. Since the theoretical approach cannot predict the evolution of cortical complex convolution after instability, non-linear finite element models are employed to study the 3-hinges formation and secondary morphological folds of the developing brain. Three-dimensional (3D) finite element analyses on a multi-layer soft tissue model which mimics a small piece of the brain are performed to investigate the fundamental mechanism of consistent hinge formation in the cortical folding. Results show that after certain amount growth of cortex, mechanical model starts to be unstable and then by formation of creases enters to a new configuration with lower strain energy. By further growth of the model, formed shallow creases start to form convoluted patterns and then develop 3-hinge patterns. Simulation results related to 3-hinges in models show good agreement with experimental observations from macaque, chimpanzee and human brain images. These results have great potential to reveal fundamental principles of brain architecture and to produce a unified theoretical framework that convincingly explains the intrinsic relationship between cortical folding and 3-hinges formation. This achieved fundamental understanding of the intrinsic relationship between cortical folding and 3-hinges formation would potentially shed new insights into the diagnosis of many brain disorders such as schizophrenia, autism, lissencephaly and polymicrogyria.

Keywords: brain, cortical folding, finite element, three hinge

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Authors: Tahmina Huq

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This paper presents the findings of an action research study that aimed to investigate the efficacy of a visual dialogue strategy in assisting autistic students with intellectual disabilities in managing their immediate emotions and improving their academic achievements. The research sought to explore the effectiveness of teaching self-regulation techniques as an alternative to traditional approaches involving segregation. The study identified visual dialogue as a valuable tool for promoting self-regulation in this specific student population. Action research was chosen as the methodology due to its suitability for immediate implementation of the findings in the classroom. Autistic students with intellectual disabilities often face challenges in controlling their emotions, which can disrupt their learning and academic progress. Conventional methods of intervention, such as isolation and psychologist-assisted approaches, may result in missed classes and hindered academic development. This study introduces the utilization of visual dialogue between students and teachers as an effective self-regulation strategy, addressing the limitations of traditional approaches. Action research was employed as the methodology for this study, allowing for the direct application of the findings in the classroom. The study observed two 15-year-old autistic students with intellectual disabilities who exhibited difficulties in emotional regulation and displayed aggressive behaviors. The research question focused on the effectiveness of visual dialogue in managing the emotions of these students and its impact on their learning outcomes. Data collection methods included personal observations, log sheets, personal reflections, and visual documentation. The study revealed that the implementation of visual dialogue as a self-regulation strategy enabled the students to regulate their emotions within a short timeframe (10 to 30 minutes). Through visual dialogue, they were able to express their feelings and needs in socially appropriate ways. This finding underscores the significance of visual dialogue as a tool for promoting emotional regulation and facilitating active participation in classroom activities. As a result, the students' learning outcomes and social interactions were positively impacted. The findings of this study hold significant implications for educators working with autistic students with intellectual disabilities. The use of visual dialogue as a self-regulation strategy can enhance emotional regulation skills and improve overall academic progress. The action research approach outlined in this paper provides practical guidance for educators in effectively implementing self-regulation strategies within classroom settings. In conclusion, the study demonstrates that visual dialogue is an effective strategy for enhancing emotional regulation in autistic students with intellectual disabilities. By employing visual communication, students can successfully regulate their emotions and actively engage in classroom activities, leading to improved learning outcomes and social interactions. This paper underscores the importance of implementing self-regulation strategies in educational settings to cater to the unique needs of autistic students.

Keywords: action research, self-regulation, autism, visual communication

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Authors: Xu Qian

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This abstract examines the concept of resilience in adolescents from both adolescent medicine and child psychology perspectives. It discusses the role of healthcare providers in fostering resilience among adolescents, encompassing physical, psychological, and social aspects. The paper highlights evidence-based interventions and practical strategies for promoting resilience in this population. Introduction: Resilience plays a crucial role in the healthy development of adolescents, enabling them to navigate through the challenges of this transitional period. This abstract explores the concept of resilience from the perspectives of adolescent medicine and child psychology, shedding light on the collective efforts of healthcare providers in fostering resilience. By integrating the principles and practices of these two disciplines, this abstract emphasizes the multidimensional nature of resilience and its significance in the overall well-being of adolescents. Methods: A comprehensive literature review was conducted, encompassing research articles, empirical studies, and expert opinions from both adolescent medicine and child psychology fields. The search included databases such as PubMed, PsycINFO, and Google Scholar, focusing on publications from the past decade. The review aimed to identify evidence-based interventions and practical strategies employed by healthcare providers to promote resilience among adolescents. Results: The review revealed several key findings regarding the promotion of resilience in adolescents. Firstly, resilience is a dynamic process influenced by individual characteristics, environmental factors, and the interaction between the two. Secondly, healthcare providers play a critical role in fostering resilience by addressing the physical, psychological, and social needs of adolescents. This entails comprehensive healthcare services that integrate medical care, mental health support, and social interventions. Thirdly, evidence-based interventions such as cognitive-behavioral therapy, social skills training, and positive youth development programs have shown promising outcomes in enhancing resilience. Discussion: The integration of adolescent medicine and child psychology perspectives provides a comprehensive framework for promoting resilience in adolescents. By acknowledging the interplay between physical health, psychological well-being, and social functioning, healthcare providers can tailor interventions to address the specific needs and challenges faced by adolescents. Collaborative efforts between medical professionals, psychologists, educators, and families are vital in creating a supportive environment that fosters resilience. Additionally, the findings highlight the importance of early identification and intervention, emphasizing the need for routine screening and assessment to identify adolescents at risk and provide timely support. Conclusion: Promoting resilience in adolescents requires a holistic approach that integrates adolescent medicine and child psychology perspectives. By recognizing the multifaceted nature of resilience, healthcare providers can implement evidence-based interventions and practical strategies to enhance the well-being of adolescents. The collaboration between healthcare professionals from different disciplines, alongside the involvement of families and communities, is crucial for creating a resilient support system. By investing in the promotion of resilience during adolescence, we can empower young individuals to overcome adversity and thrive in their journey toward adulthood.

Keywords: psychology, clinical psychology, child psychology, adolescent psychology, adolescent

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Authors: Cristina Costescu, Carmen David, Adrian Roșan

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Executive functions (EF) and emotion regulation strategies are processes that allow individuals to function in an adaptative way and to be goal-oriented, which is essential for success in daily living activities, at school, or in social contexts. The Emotion Regulation and Executive Functioning Scale for Children and Adolescents (REMEX) represents an empirically based tool (based on the model of EF developed by Diamond) for evaluating significant dimensions of child and adolescent EFs and emotion regulation strategies, mainly in school contexts. The instrument measures the following dimensions: working memory, inhibition, cognitive flexibility, executive attention, planning, emotional control, and emotion regulation strategies. Building the instrument involved not only a top-down process, as we selected the content in accordance with prominent models of FE, but also a bottom-up one, as we were able to identify valid contexts in which FE and ER are put to use. For the construction of the instrument, we implemented three focus groups with teachers and other professionals since the aim was to develop an accurate, objective, and ecological instrument. We used the focus group method in order to address each dimension and to yield a bank of items to be further tested. Each dimension is addressed through a task that the examiner will apply and through several items derived from the main task. For the validation of the instrument, we plan to use item response theory (IRT), also known as the latent response theory, that attempts to explain the relationship between latent traits (unobservable cognitive processes) and their manifestations (i.e., observed outcomes, responses, or performance). REMEX represents an ecological scale that integrates a current scientific understanding of emotion regulation and EF and is directly applicable to school contexts, and it can be very useful for developing intervention protocols. We plan to test his convergent validity with the Childhood Executive Functioning Inventory (CHEXI) and Emotion Dysregulation Inventory (EDI) and divergent validity between a group of typically developing children and children with neurodevelopmental disorders, aged between 6 and 9 years old. In a previous pilot study, we enrolled a sample of 40 children with autism spectrum disorders and attention-deficit/hyperactivity disorder aged 6 to 12 years old, and we applied the above-mentioned scales (CHEXI and EDI). Our results showed that deficits in planning, bebavior regulation, inhibition, and working memory predict high levels of emotional reactivity, leading to emotional and behavioural problems. Considering previous results, we expect our findings to provide support for the validity and reliability of the REMEX version as an ecological instrument for assessing emotion regulation and EF in children and for key features of its uses in intervention protocols.

Keywords: executive functions, emotion regulation, children, item response theory, focus group

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Authors: Zylfi Shehu, Shpetim Madani, Bashkim Delia

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Context: The study focuses on the interest and engagement of high school students in Tirana, Albania, in physical activity, sports, and foreign languages. It acknowledges the numerous physiological benefits of physical activity, such as cardiovascular health and improved mood. It also recognizes the importance of physical activity in childhood and adolescence for proper skeletal development and long-term health. Research Aim: The main purpose of the study is to investigate and analyze the preferences and interests of male and female high school students in Tirana regarding their functional development, physical activity, sports participation, and choice of foreign languages. The aim is to provide insights for the students and teachers to guide future objectives and improve the quality of physical education. Methodology: The study employed a survey-based approach, targeting both male and female students in public high schools in Tirana. A total of 410 students aged 15 to 19 years old, participated in the study. The data collected from the survey were processed using Excel and presented through tables and graphs. Findings: The results revealed that team sports were more favored by the students, with football being the preferred choice among males, while basketball and volleyball were more popular among females. Additionally, English was found to be the most preferred foreign language, selected by a higher percentage of females (38.57%) compared to males (16.90%). German followed as the second preferred language. Theoretical Importance: This study contributes to the understanding of students' interests in physical activity, sports, and foreign languages in Tirana's high schools. The findings highlight the need to focus on specific sports and languages to cater to students' preferences and guide future educational objectives. It also emphasizes the importance of physical education in promoting students' overall well-being and highlights potential areas for policy and program improvement. Data Collection and Analysis Procedures: The study collected data through surveys administered to high school students in Tirana. The survey responses were processed and analyzed using Excel, and the findings were presented through tables and graphs. The data analysis allowed for the identification of preferences and trends among male and female students, providing valuable insights for future decision-making. Question Addressed: The study aimed to address the question of high school students' interest in physical activity, sports, and foreign languages. It sought to understand the preferences and choices made by students in Tirana and investigate factors such as gender, family income, and accessibility to extracurricular sports activities. Conclusion: The study revealed that high school students in Tirana show a preference for team sports, with football being the most favored among males and basketball and volleyball among females. English was found to be the most preferred foreign language. The findings provide important insights for educators and policymakers to enhance physical education programs and consider students' preferences and interests to foster a more effective learning environment. The study also emphasizes the importance of physical activity and sports in promoting students' physical and mental well-being.

Keywords: female, male, foreign languages, sports, physical education, high school students

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Sakinah Idris, Gabrine Jagersma, Bjorn Jaime Van Pelt, Kirstin Greaves-Lord

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Background: The PEERS (Program for the Education and Enrichment of Relational Skills) intervention can be considered a well-established, evidence-based intervention in the USA. However, testing the efficacy of cultural adaptations of PEERS is still ongoing. More and more, the involvement of all stakeholders in the development and evaluation of interventions is acknowledged as crucial for the longer term implementation of interventions across settings. Therefore, in the current project, teens with ASD (Autism Spectrum Disorder), their neurotypical peers, parents, teachers, as well as clinicians were involved in the development and evaluation of the Dutch version of PEERS. Objectives: The current presentation covers (1) the formative phase and (2) the preliminary adaptation test phase of the cultural adaptation of evidence-based interventions. In the formative phase, we aim to describe the process of adaptation of the PEERS program to the Dutch culture and care system. In the preliminary adaptation phase, we will present results from the preliminary adaptation test among 32 adolescents with ASD. Methods: In phase 1, a group discussion on common vocabulary was conducted among 70 teenagers (and their teachers) from special and regular education aged 12-18 years old. This inventory concerned 14 key constructs from PEERS, e.g., areas of interests, locations for making friends, common peer groups and crowds inside and outside of school, activities with friends, commonly used ways for electronic communication, ways for handling disagreements, and common teasing comebacks. Also, 15 clinicians were involved in the translation and cultural adaptation process. The translation and cultural adaptation process were guided by the research team, and who included input and feedback from all stakeholders through an iterative feedback incorporation procedure. In phase 2, The parent-reported Social Responsiveness Scale (SRS), the Test of Adolescent Social Skills Knowledge (TASSK), and the Quality of Socialization Questionnaire (QSQ) were assessed pre- and post-intervention to evaluate potential treatment outcome. Results: The most striking cultural adaptation - reflecting the standpoints of all stakeholders - concerned the strategies for handling rumors and gossip, which were suggested to be taught using a similar approach as the teasing comebacks, more in line with ‘down-to-earth’ Dutch standards. The preliminary testing of this adapted version indicated that the adolescents with ASD significantly improved their social knowledge (TASSK; t₃₁ = -10.9, p < .01), social experience (QSQ-Parent; t₃₁ = -4.2, p < .01 and QSQ-Adolescent; t₃₂ = -3.8, p < .01), and in parent-reported social responsiveness (SRS; t₃₃ = 3.9, p < .01). In addition, subjective evaluations of teens with ASD, their parents and clinicians were positive. Conclusions: In order to further scrutinize the effectiveness of the Dutch version of the PEERS intervention, we recommended performing a larger scale randomized control trial (RCT) design, for which we provide several methodological considerations.

Keywords: cultural adaptation, PEERS, preliminary testing, translation

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Authors: Line Massé, Claire Baudry, Claudia Verret, Marie-France Nadeau, Anne Brault-Labbé

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Little research has been conducted on educational services adapted for twice exceptional students. Within an action research, a cluster grouping was set up in an elementary school in Quebec, bringing together gifted or doubly exceptional (2E) students (n = 11) and students not identified as gifted (n = 8) within a multilevel class (3ᵣ𝒹 and 4ₜₕ years). 2E students had either attention deficit hyperactivity disorder (n = 8, including 3 with specific learning disability) or autism spectrum disorder (n = 2). Differentiated instructions strategies were implemented, including the possibility of progressing at their own pace of learning, independent study or research projects, flexible accommodation, tutoring with older students and the development of socio-emotional learning. A specialized educator also supported the teacher in the class for behavioural and socio-affective aspects. Objectives: The study aimed to assess the impacts of the grouping on all students, their academic motivation, and their socio-emotional adaptation. Method: A mixed method was used, combining a qualitative approach with a quantitative approach. Semi-directed interviews were conducted with students (N = 18, 4 girls and 14 boys aged 8 to 9) and one of their parents (N = 18) at the end of the school year. Parents and students completed two questionnaires at the beginning and end of the school year: the Behavior Assessment System for Children-3, children or parents versions (BASC-3, Reynolds and Kampus, 2015) and the Academic Motivation in Education (Vallerand et al., 1993). Parents also completed the Multidimensional Student Life Satisfaction Scale (Huebner, 1994, adapted by Fenouillet et al., 2014) comprising three domains (school, friendships, and motivation). Mixed thematic analyzes were carried out on the data from the interviews using the N'Vivo software. Related-samples Wilcoxon rank-sums tests were conducted for the data from the questionnaires. Results: Different themes emerge from the students' comments, including a positive impact on school motivation or attitude toward school, improved school results, reduction of their behavioural difficulties and improvement of their social relations. These remarks were more frequent among 2E students. Most 2E students also noted an improvement in their academic performance. Most parents reported improvements in attitudes toward school and reductions in disruptive behaviours in the classroom. Some parents also observed changes in behaviours at home or in the socio-emotional well-being of their children, here again, particularly parents of 2E children. Analysis of questionnaires revealed significant differences at the end of the school year, more specifically pertaining to extrinsic motivation identified, problems of conduct, attention, emotional self-control, executive functioning, negative emotions, functional deficiencies, and satisfaction regarding friendships. These results indicate that this approach could benefit not only gifted and doubly exceptional students but also students not identified as gifted.

Keywords: Cluster grouping, elementary school, giftedness, mixed methods, twice exceptional students

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Authors: Geraldine Macdonald, Oliver Perra, Nina O’Neill, Laura Neeson, Kathryn Higgins

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Background: Despite improvements in recent years, almost one in six children in Northern Ireland (NI) leaves primary school without achieving the expected level in English and Maths. By early adolescence, this ratio is one in five. In 2010-11, around 9000 pupils in NI had failed to achieve the required standard in literacy and numeracy by the time they left full-time education. This paper reports the findings of an experimental evaluation of a programmed designed to improve educational outcomes of a cohort of children starting primary school in areas of high social disadvantage in Northern Ireland. The intervention: ‘Ready to Learn’ comprised two key components: a literacy-rich After School programme (one hour after school, three days per week), and a range of activities and support to promote the engagement of parents with their children’s learning, in school and at home. The intervention was delivered between September 2010 and August 2013. Study aims and objectives: The primary aim was to assess whether, and to what extent, ‘Ready to Learn’ improved the literacy of socially disadvantaged children entering primary schools compared with children in schools without access to the programme. Secondary aims included assessing the programme’s impact on children’s social, emotional and behavioural regulation, and parents’ engagement with their children’s learning. In total, 505 children (almost all) participated in the baseline assessment for the study, with good retention over seven sweeps of data collection. Study design: The intervention was evaluated by means of a cluster randomized trial, with schools as the unit of randomization and analysis. It included a qualitative component designed to examine process and implementation, and to explore the concept of parental engagement. Sixteen schools participated, with nine randomized to the experimental group. As well as outcome data relating to children, 134 semi-structured interviews were conducted with parents over the three years of the study, together with 88 interviews with school staff. Results: Given the children’s ages, not all measures used were direct measures of reading. Findings point to a positive impact of “Ready to Learn” on children’s reading achievement (comprehension and fluency), as assessed by the York Assessment of Reading Comprehension (YARC) and decoding, assessed using the Word Recognition and Phonic Skills (WRaPS3). Effects were not large, but evidence suggests that it is unusual for an after school programme to clearly to demonstrate effects on reading skills. No differences were found on three other measures of literacy-related skills: British Picture Vocabulary Scale (BPVS-II), Naming Speed and Non-word Reading Tests from the Phonological Assessment Battery (PhAB) or Concepts about Print (CAP) – the last due to an age-related ceiling effect). No differences were found between the two groups on measures of social, emotional and behavioural regulation, and due to low levels of participation, it was not possible directly to assess the contribution of the parent component to children’s outcomes. The qualitative data highlighted conflicting concepts of engagement between parents and school staff. Ready to Learn is a promising intervention that merits further support and evaluation.

Keywords: after-school, education, literacy, parental engagement

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Authors: Michela Del Vicario, Walter Quattrociocchi, Antonio Scala, Ana Lucía Schmidt, Fabiana Zollo

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Information, rumors, and debates may shape and impact public opinion heavily. In the latest years, several concerns have been expressed about social influence on the Internet and the outcome that online debates might have on real-world processes. Indeed, on online social networks users tend to select information that is coherent to their system of beliefs and to form groups of like-minded people –i.e., echo chambers– where they reinforce and polarize their opinions. In this way, the potential benefits coming from the exposure to different points of view may be reduced dramatically, and individuals' views may become more and more extreme. Such a context fosters misinformation spreading, which has always represented a socio-political and economic risk. The persistence of unsubstantiated rumors –e.g., the hypothetical and hazardous link between vaccines and autism– suggests that social media do have the power to misinform, manipulate, or control public opinion. As an example, current approaches such as debunking efforts or algorithmic-driven solutions based on the reputation of the source seem to prove ineffective against collective superstition. Indeed, experimental evidence shows that confirmatory information gets accepted even when containing deliberately false claims while dissenting information is mainly ignored, influences users’ emotions negatively and may even increase group polarization. Moreover, confirmation bias has been shown to play a pivotal role in information cascades, posing serious warnings about the efficacy of current debunking efforts. Nevertheless, mitigation strategies have to be adopted. To generalize the problem and to better understand social dynamics behind information spreading, in this work we rely on a tight quantitative analysis to investigate the behavior of more than 300M users w.r.t. news consumption on Facebook over a time span of six years (2010-2015). Through a massive analysis on 920 news outlets pages, we are able to characterize the anatomy of news consumption on a global and international scale. We show that users tend to focus on a limited set of pages (selective exposure) eliciting a sharp and polarized community structure among news outlets. Moreover, we find similar patterns around the Brexit –the British referendum to leave the European Union– debate, where we observe the spontaneous emergence of two well segregated and polarized groups of users around news outlets. Our findings provide interesting insights into the determinants of polarization and the evolution of core narratives on online debating. Our main aim is to understand and map the information space on online social media by identifying non-trivial proxies for the early detection of massive informational cascades. Furthermore, by combining users traces, we are finally able to draft the main concepts and beliefs of the core narrative of an echo chamber and its related perceptions.

Keywords: information spreading, misinformation, narratives, online social networks, polarization

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Authors: Hyojung Shin, Munhee Kweon

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Non-suicide Self Injuri (NSSI) can be defined as the act of an individual who does not intend to die directly and intentionally damaging his or her body tissues. According to a study conducted by the Korean Ministry of Education in 2018, the NSSI is widely spreading among teenagers, with 7.9 percent of all middle school students and 6.4 percent of high school students reporting experience in NSSI. As such, it is understood that the first time of the NSSI is in adolescence. However, the NSSI may not start and stop at a certain time, but may last longer. However, despite the widespread prevalence of NSSI among teenagers, little is known about the process and maintenance of NSSI college students on a continuous development basis. Korea's NSSI research trends are mainly focused on individual internal vulnerabilities (high levels of painful emotions/awareness, lack of pain tolerance) and interpersonal vulnerabilities (poor communication skills and social problem solving), and little studies have been done on individuals' unique characteristics and environmental factors such as substrate or environmental vulnerability factors. In particular, environmental factors are associated with the occurrence of NSSI by acting as a vulnerability factor that can interfere with the emotional control of individuals, whereas individual factors play a more direct role by contributing to the maintenance of NSSI, so it is more important to consider this for personal environmental involvement in NSSI. This study focused on the Fight-Flight-Freeze System as a factor in the defensive avoidance system of Reward Sensitivity in individual factors. Also, Environmental factors include the level of expressed emotion in family. Wedig and Nock (2007) said that if parents with a self-critical cognitive style take the form of criticizing their children, the experience of NSSI increases. The high level of parental criticism is related to the increasing frequency of NSSI acts as well as to serious levels of NSSI. If the normal coping mechanism fails to control emotions, people want to overcome emotional difficulties even through NSSI, and emotional disturbances experienced by individuals within an unsupported social relationship increase vulnerability to NSSI. Based on these theories, this study is to find ways to prevent NSSI and intervene in counseling effectively by verifying the differences between the characteristics experienced NSSI persons and non-experienced NSSI persons. Therefore, the purpose of this research was to examine the relationship of Fight-Flight-Freeze System (FFFS), level of expressed emotion in family and emotion regulation difficulties, comparing those who experienced Non-Suicidal Self-Injury (NSSI) with those who did not experienced Non-Suicidal Self-Injury (NSSI). The data were collected from university students in Seoul Korea and Gyeonggi-do province. 99 subjects were experienced student of NSSI, while 375 were non- experienced student of NSSI. The results of this study are as follows. First, the result of t-test indicated that NSSI attempters showed a significant difference in fight-flight-freeze system, level of expressed emotion and emotion regulation difficulties, compared with non-attempters. Second, fight-flight-freeze system, level of expressed emotion in family and emotion regulation difficulties of NSSI attempters showed a significant difference in correlation. The correlation was significant only freeze system of fight-flight-freeze system, Level of expressed emotion in family and emotion regulation difficulties. Third, freeze system and level of expressed emotion in family predicted emotion regulation difficulties of NSSI attempters. Fight-freeze system and level of expressed emotion in family predicted emotion regulation difficulties of non-NSSI attempters. Lastly, Practical implications for counselors and limitations of this study are discussed.

Keywords: fight-flight-freeze system, level of expressed emotion in family, emotion regulation difficulty, non-suicidal self injury

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Authors: Sana Fatima, Paul Sadler, Jon Cooper, David Mendel, Ayesha Jameel

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Background: Neurodiversity refers to intrinsic differences between human minds and encompasses dyspraxia, dyslexia, attention deficit hyperactivity disorder, dyscalculia, autism spectrum disorder, and Tourette syndrome. There is increasing recognition of neurodiversity in relation to disability/diversity in medical education and the associated impact on training, career progression, and personal and professional wellbeing. In addition, documented and anecdotal evidence suggests that medical educators and training providers in all four nations (UK) are increasingly concerned about understanding neurodiversity and identifying and providing support for neurodivergent trainees. Summary of Work: A national Neurodiversity Task and Finish group were established to survey Health Education England local office Professional Support teams about insights into infrastructure, training for educators, triggers for assessment, resources, and intervention protocols. This group drew from educational leadership, professional and personal neurodiverse expertise, occupational medicine, employer human resource, and trainees. An online, exploratory survey was conducted to gather insights from supervisors and trainers across England using the Professional Support Units' platform. Summary of Results: This survey highlighted marked heterogeneity in the identification, assessment, and approaches to support and management of neurodivergent trainees and highlighted a 'deficit' approach to neurodiversity. It also demonstrated a paucity of educational and protocol resources for educators and supervisors in supporting neurodivergent trainees. Discussions and Conclusions: In phase one, we focused on faculty development. An educational repository for all supervising trainees using a thematic approach was formalised. This was guided by our survey findings specific for neurodiversity and took a triple 'A' approach: awareness, assessment, and action. This is further supported by video material incorporating stories in training as well as mobile workshops for trainers for more immersive learning. The subtle theme from both the survey and Task and finish group suggested a move away from deficit-focused methods toward a positive holistic, interdisciplinary approach within a biopsychosocial framework. Contributions: 1. Faculty Knowledge and basic understanding of neurodiversity are key to supporting trainees with known or underlying Neurodiverse conditions. This is further complicated by challenges around non-disclosure, varied presentations, stigma, and intersectionality. 2. There is national (and international) inconsistency in the approach to how trainees are managed once a neurodiverse condition is suspected or diagnosed. 3. A carefully constituted and focussed Task and Finish group can rapidly identify national inconsistencies in neurodiversity and implement rapid educational interventions. 4. Nuanced findings from surveys and discussion can reframe the approach to neurodiversity; from a medical model to a more comprehensive, asset-based, biopsychosocial model of support, fostering a cultural shift, accepting 'diversity' in all its manifestations, visible and hidden.

Keywords: neurodiversity, professional support, human considerations, workplace wellbeing

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Authors: Melina Kopke, Jelle Van Dijk

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Persons with cognitive disabilities, such as Autism Spectrum Disorder (ASD) are often dependent on some form of professional support. Recent transformations in Dutch healthcare have spurred institutions to apply new, empowering methods and tools to enable their clients to cope (more) independently in daily life. Assistive Technologies (ATs) seem promising as empowering tools. While ATs can, functionally speaking, help people to perform certain activities without human assistance, we hold that, from a design-theoretical perspective, such technologies often fail to empower in a deeper sense. Most technologies serve either to prescribe or to monitor users’ actions, which in some sense objectifies them, rather than strengthening their agency. This paper proposes that theories of embodied interaction could help formulating a design vision in which interactive assistive devices augment, rather than replace, human agency and thereby add to a persons’ empowerment in daily life settings. It aims to close the gap between empowerment theory and the opportunities provided by assistive technologies, by showing how embodiment and empowerment theory can be applied in practice in the design of new, interactive assistive devices. Taking a Research-through-Design approach, we conducted a case study of designing to support independently living people with ASD with structuring daily activities. In three iterations we interlaced design action, active involvement and prototype evaluations with future end-users and healthcare professionals, and theoretical reflection. Our co-design sessions revealed the issue of handling daily activities being multidimensional. Not having the ability to self-manage one’s daily life has immense consequences on one’s self-image, and also has major effects on the relationship with professional caregivers. Over the course of the project relevant theoretical principles of both embodiment and empowerment theory together with user-insights, informed our design decisions. This resulted in a system of wireless light units that users can program as a reminder for tasks, but also to record and reflect on their actions. The iterative process helped to gradually refine and reframe our growing understanding of what it concretely means for a technology to empower a person in daily life. Drawing on the case study insights we propose a set of concrete design principles that together form what we call the embodied empowerment design framework. The framework includes four main principles: Enabling ‘reflection-in-action’; making information ‘publicly available’ in order to enable co-reflection and social coupling; enabling the implementation of shared reflections into an ‘endurable-external feedback loop’ embedded in the persons familiar ’lifeworld’; and nudging situated actions with self-created action-affordances. In essence, the framework aims for the self-development of a suitable routine, or ‘situated practice’, by building on a growing shared insight of what works for the person. The framework, we propose, may serve as a starting point for AT designers to create truly empowering interactive products. In a set of follow-up projects involving the participation of persons with ASD, Intellectual Disabilities, Dementia and Acquired Brain Injury, the framework will be applied, evaluated and further refined.

Keywords: assistive technology, design, embodiment, empowerment

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Authors: Sara J. Mills, Sally Howell

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The field of special education has long struggled to bridge the research to practice gap. There is ample evidence from research of effective strategies for students with special needs, but these strategies are not routinely implemented in schools in ways that yield positive results for students. In recent years, the field of special education has turned its focus to implementation science. That is, discovering effective methods of implementing evidence-based practices in school settings. Teacher training is a critical factor in implementation. This study aimed to successfully implement Schema-Based Instruction (SBI) for math problem solving in four classrooms in a special primary school serving students with language deficits, including students with Autism Spectrum Disorders (ASD) and Intellectual Disabilities (ID). Using an action research design that allowed for adjustments and modification to be made over the year-long study, two cohorts of teachers across the school were trained and supported in six-week learning cycles to implement SBI in their classrooms. The learning cycles included a one-day training followed by six weeks of one-on-one or team coaching and three fortnightly cohort group meetings. After the first cohort of teachers completed the learning cycle, modifications and adjustments were made to lesson materials in an attempt to improve their effectiveness with the second cohort. Fourteen teachers participated in the study, including master special educators (n=3), special education instructors (n=5), and classroom assistants (n=6). Thirty-one students participated in the study (21 boys and 10 girls), ranging in age from 5 to 12 years (M = 9 years). Twenty-one students had a diagnosis of ASD, 20 had a diagnosis of mild or moderate ID, with 13 of these students having both ASD and ID. The remaining students had diagnosed language disorders. To evaluate the effectiveness of the implementation approach, both student and teacher data was collected. Student data included pre- and post-tests of math word problem solving. Teacher data included fidelity of treatment checklists and pre-post surveys of teacher attitudes and efficacy for teaching problem solving. Finally, artifacts were collected throughout the learning cycle. Results from cohort 1 and cohort 2 revealed similar outcomes. Students improved in the number of word problems they answered correctly and in the number of problem-solving steps completed independently. Fidelity of treatment data showed that teachers implemented SBI with acceptable levels of fidelity (M = 86%). Teachers also reported increases in the amount of time spent teaching problem solving, their confidence in teaching problem solving and their perception of students’ ability to solve math word problems. The artifacts collected during instruction indicated that teachers made modifications to allow their students to access the materials and to show what they knew. These findings are in line with research that shows student learning can improve when teacher professional development is provided over an extended period of time, actively involves teachers, and utilizes a variety of learning methods in classroom contexts. Further research is needed to evaluate whether these gains in teacher instruction and student achievement can be maintained over time once the professional development is completed.

Keywords: implementation science, mathematics problem solving, research-to-practice gap, schema based instruction

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Authors: Nayer Mofidtabatabaei

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Advancements in artificial intelligence (AI) have transformed various fields, including psychology and behavioral sciences. This paper explores the diverse ways in which AI is applied to enhance research, diagnosis, therapy, and understanding of human behavior and mental health. We discuss the potential benefits and challenges associated with AI in these fields, emphasizing the ethical considerations and the need for collaboration between AI researchers and psychological and behavioral science experts. Artificial Intelligence (AI) has gained prominence in recent years, revolutionizing multiple industries, including healthcare, finance, and entertainment. One area where AI holds significant promise is the field of psychology and behavioral sciences. AI applications in this domain range from improving the accuracy of diagnosis and treatment to understanding complex human behavior patterns. This paper aims to provide an overview of the various AI applications in psychological and behavioral sciences, highlighting their potential impact, challenges, and ethical considerations. Mental Health Diagnosis AI-driven tools, such as natural language processing and sentiment analysis, can analyze large datasets of text and speech to detect signs of mental health issues. For example, chatbots and virtual therapists can provide initial assessments and support to individuals suffering from anxiety or depression. Autism Spectrum Disorder (ASD) Diagnosis AI algorithms can assist in early ASD diagnosis by analyzing video and audio recordings of children's behavior. These tools help identify subtle behavioral markers, enabling earlier intervention and treatment. Personalized Therapy AI-based therapy platforms use personalized algorithms to adapt therapeutic interventions based on an individual's progress and needs. These platforms can provide continuous support and resources for patients, making therapy more accessible and effective. Virtual Reality Therapy Virtual reality (VR) combined with AI can create immersive therapeutic environments for treating phobias, PTSD, and social anxiety. AI algorithms can adapt VR scenarios in real-time to suit the patient's progress and comfort level. Data Analysis AI aids researchers in processing vast amounts of data, including survey responses, brain imaging, and genetic information. Privacy Concerns Collecting and analyzing personal data for AI applications in psychology and behavioral sciences raise significant privacy concerns. Researchers must ensure the ethical use and protection of sensitive information. Bias and Fairness AI algorithms can inherit biases present in training data, potentially leading to biased assessments or recommendations. Efforts to mitigate bias and ensure fairness in AI applications are crucial. Transparency and Accountability AI-driven decisions in psychology and behavioral sciences should be transparent and subject to accountability. Patients and practitioners should understand how AI algorithms operate and make decisions. AI applications in psychological and behavioral sciences have the potential to transform the field by enhancing diagnosis, therapy, and research. However, these advancements come with ethical challenges that require careful consideration. Collaboration between AI researchers and psychological and behavioral science experts is essential to harness AI's full potential while upholding ethical standards and privacy protections. The future of AI in psychology and behavioral sciences holds great promise, but it must be navigated with caution and responsibility.

Keywords: artificial intelligence, psychological sciences, behavioral sciences, diagnosis and therapy, ethical considerations

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Authors: Paul J. McKay

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Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.

Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)

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