1. Akdeniz G. Face-like pareidolia images are more difficult to detect than real faces in children with autism spectrum disorder. Advances in clinical and experimental medicine : official organ Wroclaw Medical University. 2023.

BACKGROUND: Research on the diagnosis, treatment and pathophysiology of neurodevelopmental disorders is multifaceted, requiring the use of genetics, imaging, psychology, and artificial intelligence (AI). Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a limited ability to communicate and a limited interest in social environments. Facial recognition is really important in daily life. Seeing faces in unusual objects, e.g., a face in a cloud, is called face pareidolia. OBJECTIVES: Although more evidence points to a greater role of genetic factors in ASD, neuropsychological tests have an important role in diagnosing ASD. The aim of the study was to investigate how face perception is processed in children with autism using a new digital test that consists of faces and pareidolia images. MATERIAL AND METHODS: Twenty typically developing (TD) children (8 male, 12 female) between 6 and 16 years of age and 21 children with ASD (14 male, 7 female) between 6 and 14 years of age were included in the study. A new neuropsychological test called the digital pareidolia test was administered to the participants. The study consisted of 2 stages: a face condition and a pareidolia condition. RESULTS: Our results showed that children with autism (n = 21) were less successful in identifying both face and pareidolia images, and were slower to react in both conditions than children from the TD group. Both children with ASD and the TD group reacted faster to face images than pareidolia images. CONCLUSIONS: The findings in this study are in agreement with atypical and different face perceptions in autism which cause social difficulties. We demonstrated that the digital face and pareidolia test has considerable potential for use as a neuropsychological test that can specify the diagnosis and progression of autism in subclinical areas. Pareidolia faces and real faces are processed in a common way.

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2. Baris RO, Sahin N, Bilgic AD, Ozdemir C, Edgunlu TG. Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder. Irish journal of medical science. 2023.

BACKGROUND: Defects in neurotransmission and synaptogenesis are noteworthy in the pathogenesis of ASD. Synapsin III (SYN III) is defined as a synaptic vesicle protein that plays an important role in synaptogenesis and regulation of neurotransmitter release and neurite outgrowth. Therefore, SYN III may associate with many neurodevelopmental diseases, including ASD. AIM: The aim of this study was to investigate whether the SYN III gene -631 C > G (rs133946) and -196 G > A (rs133945) polymorphisms are associated with susceptibility to ASD. METHODS: SYN III variants and the risk of ASD were investigated in 26 healthy children and 24 ASD children. SYN III gene variants were genotyped by PCR-RFLP methods. The differences in genotype and allele frequencies between the ASD and control groups were calculated using the chi-square (χ2). We analysed the SYN III gene using web-based tools. RESULTS: Our results suggest that the presence of the AA genotype of the SYN III -196 G > A (rs133945) polymorphism affects the characteristics and development of ASD in children (p = 0.012). SYN III -631 C > G (rs133946) polymorphism was not associated with ASD (p = 0.524). We have shown the prediction of gene-gene interaction that SYN III is co-expressed with 17 genes, physical interaction with 3 genes, and co-localization with 12 genes. The importance of different genes (SYN I, II, III, GABRD, NOS1AP, GNAO1) for ASD pathogenesis was revealed by GO analysis. CONCLUSION: Considering the role of SYN III and related genes, especially in the synaptic vesicle pathway and neurotransmission, its effect on ASD can be further investigated.

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3. Björlin Avdic H, Kleberg JL, van der Poll M, Frisén L, Hutley M, Sarjanen M, Nordgren I, Ekholm K, Hirschberg AL, Nordgren A, Willfors C. Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD. Cognitive neuropsychiatry. 2023: 1-19.

INTRODUCTION: The behavioural phenotype in Turner syndrome (TS) is associated with an uneven cognitive profile and social and executive difficulties. Still, studies in adult populations of TS are scarce, and the interactions between different behavioural domains are unclear. The aim of this study was to examine the cognitive profile in relation to measures of ADHD and ASD in a Swedish sample of 30 adult women with TS. METHODS: Standardized psychological tests and questionnaires were used for behavioural assessments in a sample of adult women with a diagnosis of TS (n = 30). Both frequentist and Bayesian statistics were applied. RESULTS: The cognitive profile was characterized by a verbal > non-verbal intelligence quotient (IQ) split, and 77% of the sample displayed a split exceeding cut-off for clinical significance. Symptoms on screening measures reaching thresholds for ADHD were reported in two of the 30 participants (7%) and thresholds for autism spectrum disorders (ASD) in one participant (3%). Bayesian statistics gave substantial evidence for no association between the IQ split and symptoms of ADHD/ASD. CONCLUSIONS: These results show that the TS phenotype in adulthood is associated with a clinically significant uneven cognitive profile, and particular impairments in integrative executive functions.

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4. Ellis N, Yi YJ. Systematic Review on Environmental Design for Adaptive and Problem Behaviors of People With Intellectual and Developmental Disabilities. Herd. 2023: 19375867231173393.

OBJECTIVES: The presented systematic review explores the empirical studies regarding environmental design strategies that support adaptive behaviors while improving problem behaviors of people with intellectual and developmental disabilities (IDD). BACKGROUND: People with IDD perceive and interact with their environment differently from people without disabilities. Design research has not always considered these differences, and environmental design solutions are not commonly found. METHODS: The review process followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocols. The study reports the findings from the systematic review of 32 peer-reviewed studies published in EBSCO, ERIC, ProQuest, PsycINFO, MEDLINE CINAHL, Consumer Health Complete (EBSCOhost), and Psychology and Behavioral Sciences Collection between 1990 and 2020. In addition, quality assessment tools appraised the study’s quality. RESULTS: The review identified 26 design strategies. Five themes qualitatively organized these environmental attributes: coherence, affordance, control, stimulation, and restoration. CONCLUSION: The evidence indicates that adequately designed physical environments can support the adaptive behaviors of people with IDD while alleviating behavioral problems. Design features not supported by strong empirical evidence should be further addressed in future studies.

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5. Halbur M, Preas E, Carroll R, Judkins M, Rey C, Crawford M. A comparison of fixed and repetitive models to teach object imitation to children with autism. Journal of applied behavior analysis. 2023.

A well-established imitative repertoire can facilitate the acquisition of functional communication, social behaviors, and observational learning. Although early intensive behavioral intervention programs for young children with autism incorporate imitation training, learners with autism may exhibit difficulties in acquiring an imitative repertoire. Few studies have evaluated the types of models responsible for acquisition when teaching imitation to children with autism. A preliminary evaluation with fixed and repetitive model targets suggested that children with autism may acquire imitation more rapidly when taught with repetitive models (Deshais & Vollmer, 2020). The purpose of the current study was to compare the rates of acquisition when teaching with repetitive and fixed models for six children with autism. The findings suggested that (a) fixed models resulted in the most efficient acquisition for 10 of 16 comparisons, (b) fixed and repetitive models had similar efficacy for four comparisons, (c) and the repetitive condition was most efficient for two comparisons.

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6. Maughan AL, Lunsky Y, Lake J, Mills JS, Fung K, Steel L, Weiss JA. Parent, child, and family outcomes following Acceptance And Commitment Therapy for parents of autistic children: A randomized controlled trial. Autism : the international journal of research and practice. 2023: 13623613231172241.

Parents of autistic children commonly experience difficulties with their own mental health. This study looked at the effects of a brief group-based Acceptance and Commitment Therapy program, developed for parents of autistic children, youth, and adults. ACT focuses on increasing psychological flexibility, which is the ability to be mindful and accepting of difficult thoughts and experiences, shown to be important for mental wellness. Participants included 54 parents of autistic people, ages 3-34. Parents were randomly divided into two groups: a Treatment group that received the intervention right away, and a Waitlist group that completed the program after the Treatment group completed the trial. All parents filled out questionnaires right before the program began, and at 3, 7, and 17 weeks after randomization. Compared to the group that was waiting to participate in the program, parents in the Treatment group reported greater improvements in depression and family distress, and these improvements were still present 4 months later. Parents in the Treatment group also reported short-term improvements in their positive feelings and personal goals, compared to those waiting. Results showed that ACT may help improve some aspects of mental health for parents of autistic children, but further research is recommended.

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7. Melanson IJ, Thomas AL, Brodhead MT, Sipila-Thomas ES, Miranda DRG, Plavnick JB, Joy TA, Fisher MH, White-Cascarilla AN. An evaluation of preference stability within MSWO preference assessments for children with autism. Journal of applied behavior analysis. 2023.

Previous research has commonly evaluated preference stability over time and across multiple preference assessment administrations. No studies have evaluated shifts in preference across consecutive rounds of a single preference assessment, where rounds refer to each time the experimenter resets the stimulus-presentation array. The purpose of the present study was to examine the stability of stimulus selections across successive rounds of a multiple-stimulus-without-replacement (MSWO) preference assessment with different classes of stimuli for children with autism. The study involved a secondary data analysis and calculation of preference stability across consecutive rounds using Spearman rank-order correlation coefficients (Spearman’s ρ ) for 17 participants across 40 MSWO preference assessments. Patterns of preference stability were observed in 24 out of the 40 assessments (60%) indicating that children’s preferences in this study were slightly more likely to be classified as stable than other observed patterns of responding.

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8. Nguyen JD, Shih MC, Nguyen SA, Liu YC, Mukerji SS. The Effect of Developmental Delay and Autism Spectrum Disorder on External Auditory Canal Foreign Body Extraction. Pediatric emergency care. 2023.

OBJECTIVES: To determine the effect of developmental delay (DD) and autism spectrum disorder (ASD) on pediatric external auditory canal foreign body (EAC FB) retrieval outcomes. METHODS: A retrospective chart review of children presenting with EAC FB at a tertiary children’s hospital was performed between January 2018 and December 2019. Charts were reviewed for demographics, presence of otalgia, complications, number of EAC FB episodes, indications for operating room removal, DD, and ASD status. RESULTS: A total of 1467 patients underwent EAC FB removal. One hundred thirty-seven children (9.3%) had DD, and, of those with DD, 63 (46%) had ASD. Children with DD were 1.76 years older compared with children with non-DD (NDD) (P < 0.0001) at the time of presentation, whereas children with ASD were 1.45 years older than children with NDD (P = 0.0023). Children with DD and ASD were more likely to require removal of FB in the operating room (OR) compared with the NDD group (36.5% vs 16.7%, P = 0.0001). This was not true for children with DD without ASD. Patients with DD reported significantly less otalgia when compared with NDD patients (26.3% vs 37.4%, P = 0.0097). A similar trend, although not statistically significant, was observed when comparing children with ASD with NDD patients. The NDD patients (1.1) had fewer EAC FB episodes than patients with DD (1.6, P < 0.0001) and ASD (1.8, P < 0.0016). Hazard ratios for multiple episodes of FB were 4.5 (95% confidence interval, 2.9-6.8) for DD, and 5.6 for ASD (95% confidence interval, 3.2-9.9). The complication rate for all groups was low. CONCLUSIONS: Due to the different ways that children with DD and ASD present compared with NDD children, physicians should be vigilant when evaluating symptoms and conducting physical examinations for EAC FB in those patients. A lower threshold for referral to otolaryngologists may result in more favorable outcomes.

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9. Parsons MA. Autism diagnosis in females by eating disorder professionals. Journal of eating disorders. 2023; 11(1): 73.

IMPORTANCE: Autism and eating disorders cooccur at high rates, with autism impacting the efficacy of eating disorder treatments and outcomes. Females are underdiagnosed with autism and diagnosed later in life than their male counterparts. OBJECTIVE: The purpose of this study was to define the incidence of eating disorder professionals identifying autism in female adolescents and young adults engaged in treatment for an eating disorder. DESIGN: The research design is a cross-sectional retrospective records review. The charts reviewed were from the medical records of forty assigned-at-birth females between the ages of 13-25 who received treatment for an eating disorder at the partial hospitalization program (PHP) level of care between 2020 and 2022. MAIN OUTCOMES: Upon entering PHP for an eating disorder, 10% of the study participants had a pre-existing diagnosis of autism. A total of 27.5% of participants had clinical suspicion of autism. The number of autism traits that an individual possessed directly correlated with the number of calendar days in treatment. CONCLUSION: Eating disorder professionals in this study identified autism in 17.5% of adolescent and young adult females who entered PHP treatment for an eating disorder who had not previously been diagnosed with autism. Eating disorder professionals can anticipate that individuals with autism may be in treatment for a longer duration. Further studies should explore effective treatment measures for those with autism in treatment for an eating disorder. It is well established that autism and eating disorders often co-occur. Females are less likely to be diagnosed with autism and tend to receive a diagnosis later in life than males. Therefore, during eating disorder treatment at higher levels of care, eating disorder professionals may be the first to recognize autism in their female patients. A review of chart records from female teens and young adults receiving eating disorder treatment at the partial hospitalization level of care between 2020–2022, revealed that 10% had a diagnosis of autism upon entering treatment and an additional 17.5% received a new diagnosis during treatment. The number of autism traits present in an individual directly correlated to longer treatment durations. eng.

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10. Plasek JM, Zhou L. Applying a user-centred design machine learning toolkit to an autism spectrum disorder use case. BMJ health & care informatics. 2023; 30(1).

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11. Rihar N, Krgovic D, Kokalj-Vokač N, Stangler-Herodez S, Zorc M, Dovc P. Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis. PloS one. 2023; 18(5): e0273957.

Gene- burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This approach is also suitable for complex disorders like autism spectrum disorder (ASD). The gene-burden analysis using Testing Rare Variants with Public Data (TRAPD) software was conducted on whole exome sequencing data of Slovenian patients with ASD to determine potentially novel disease risk variants in known ASD-associated genes as well as in others. To choose the right control group for testing, principal component analysis based on the 1000 Genomes and ASD cohort samples was conducted. The subsequent protein structure and ligand binding analysis usingI-TASSER package were performed to detect changes in protein structure and ligand binding to determine a potential pathogenic consequence of observed mutation. The obtained results demonstrate an association of two variants-p.Glu198Lys (PPP2R5D:c.592G>A) and p.Arg253Gln (PPP2R5D:c.758G>A) with the ASD. Substitution p.Glu198Lys (PPP2R5D:c.592G>A) is a variant, previously described as pathogenic in association with ASD combined with intellectual disability, whereas p.Arg253Gln (PPP2R5D:c.758G>A) has not been described as an ASD-associated pathogenic variant yet. The results indicate that the filtering process was suitable and could be used in the future for detection of novel pathogenic variants when analysing groups of ASD patients.

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12. Rodríguez Mega E. ‘The best way to get it right is to listen to us’ – autistic people argue for a stronger voice in research. Nature. 2023; 617(7960): 238-41.

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13. Umehara H, Takeda T, Yoshida L, Matsuura K, Okumura-Fujita M, Tominaga R, Abe Y, Masuda T, Yamada N, Numata S. Effects of group therapy on jumping to conclusion bias in adolescents with autism spectrum disorder : An exploratory study. The journal of medical investigation : JMI. 2023; 70(1.2): 115-22.

BACKGROUND AND PURPOSE: Jumping to conclusion (JTC)-a cognitive bias in thinking processes-leads to drawing conclusions based on little information, and could be related to psychosis and paranoia. While it has recently been pointed out that it could accompany the autism spectrum disorder (ASD), no interventions targeting this bias in adolescents with ASD have been reported. Therefore, this exploratory study investigated the effects of a group social cognition program on JTC bias in adolescents with ASD. PATIENTS AND METHODS: Group rehabilitation using social cognition and interaction training (SCIT) was conducted for 12- to 18-year-old adolescents with ASD. An SCIT program comprehensively targets social cognitive functions, including interventions for JTC bias, and examines changes before and after the SCIT intervention, social cognitive functioning tasks, and subjective quality of life (QOL). RESULTS: Thirteen adolescents with ASD participated in this program ; 10 (76.9%) stayed through it. The proportion of participants with JTC bias decreased significantly before and after SCIT (before : 7/10 ; after : 1/10 ; p = 0.041), and subjective QOL increased significantly (p=0.014). CONCLUSION: The results show that a group social cognition program with a JTC bias approach improves the JTC bias and increases subjective QOL in adolescents with ASD. J. Med. Invest. 70 : 115-122, February, 2023.

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14. Vi L, Jiwa MI, Lunsky Y, Thakur A. A systematic review of intellectual and developmental disability curriculum in international pre-graduate health professional education. BMC medical education. 2023; 23(1): 329.

BACKGROUND: Despite the increasing global population of individuals with intellectual and developmental disabilities (IDD), this population remains especially vulnerable to health disparities through several factors such as a lack of access to sufficient medical care and poor determinants of health. To add, numerous studies have shown that healthcare professionals are still insufficiently prepared to support this population of patients. This review synthesizes the literature on current pre-graduate IDD training programs across healthcare professions with the goal of informing the creation of evidence-based curricula. METHODS: Four major databases were searched for current pre-graduate IDD training interventions for healthcare professionals. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis flow diagram and the Best Evidence Medical Educations systematic review guide were used to frame our collection and analysis. RESULTS: Of the 8601 studies screened, 32 studies were identified, with most studies involving medical students (50%). Of note, 35% of studies were interprofessional. Most interventions utilized multiple pedagogical methods with a majority including clinical experiences (63%) followed by theoretical teaching (59%). Kirkpatrick levels showed 9% were level 0, 6% were level 1, 31% were level 2A, 31% were level 2B, 19% were level 3, 3% were level 4A, and none were level 4B. CONCLUSIONS: There is a paucity of formally evaluated studies in pre-graduate health professional IDD education. As well, there are a lack of longitudinal learning opportunities and integration into formal curriculum. Strengths identified were the use of multimodal approaches to teaching, including interprofessional approaches to optimize team competencies.

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