1. Bejnö H, Roll-Pettersson L, Klintwall L, Långh U, Odom SL, Bölte S. Adapting the preschool environment to the needs of children on the autism spectrum in Sweden: A quasi-experimental study. Scandinavian journal of occupational therapy. 2021: 1-20.

BACKGROUND: Children on the autism spectrum may receive Early Intensive Behavioural Intervention (EIBI) in Sweden to support development by providing learning opportunities. However, research suggests a need to improve the quality of their learning environment. AIM: This pre-registered study (#NCT03634761) aimed to evaluate the Swedish Autism Program Environment Rating Scale (APERS-P-SE) as a means to promote the quality of the pre-school learning environment for children on the autism spectrum, along with outcomes for these children, and their pre-school staff. MATERIAL AND METHODS: In a quasi-experimental study, pre-school staff (n = 35) conducted either EIBI supported by in-service training and on-site coaching based on APERS-P-SE assessment (at k = 9 preschools) or EIBI only (k = 8), during an 8-months period. RESULTS: The quality of the immediate learning environment (primary outcome) increased significantly in the EIBI/APERS-P-SE preschools. However, changes in child and pre-school staff measures were not significant. CONCLUSIONS AND SIGNIFICANCE: In-service training and on-site coaching based on APERS-P-SE assessments can increase the quality of the learning environment in Swedish pre-school. Studies of longer duration and larger sample size are required to determine if using the APERS-P-SE can also achieve desired behavioural change for children-, and impact pre-school staff applying EIBI.

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2. Chapman R, Veit W. Correction to: The essence of autism: fact or artefact?. Molecular psychiatry. 2021; 26(11): 7069.

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3. Collins J, Murphy GH. Detection and prevention of abuse of adults with intellectual and other developmental disabilities in care services: A systematic review. Journal of applied research in intellectual disabilities : JARID. 2022; 35(2): 338-73.

BACKGROUND: The abuse of adults with intellectual and developmental disabilities in care services seems to be relatively common, although there are anecdotal suggestions that abuse may be predictable and preventable. METHOD: Evidence related to how abuse is detected and prevented within services was reviewed. Database and ancestry searches were conducted, and the methodological quality of studies assessed using the mixed methods appraisal tool. RESULTS: A total of 48 articles were reviewed. The characteristics of victims, perpetrators and organisations were summarised. Several recommendations for how abuse can be detected and prevented were made, including better staff training, supervision and monitoring of services. The quality of studies limits the reliability and validity of research findings. CONCLUSION: Risk and protective factors related to the abuse of adults with intellectual and other developmental disabilities remain largely consistent. Further research is required to support the implementation of recommendations aimed to detect and prevent abuse.

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4. Danesh AA, Howery S, Aazh H, Kaf W, Eshraghi AA. Hyperacusis in Autism Spectrum Disorders. Audiology research. 2021; 11(4): 547-56.

Hyperacusis is highly prevalent in the autism spectrum disorder (ASD) population. This auditory hypersensitivity can trigger pragmatically atypical reactions that may impact social and academic domains. Objective: The aim of this report is to describe the relationship between decreased sound tolerance disorders and the ASD population. Topics covered: The main topics discussed include (1) assessment and prevalence of hyperacusis in ASD; (2) etiology of hyperacusis in ASD; (3) treatment of hyperacusis in ASD. Conclusions: Knowledge of the assessment and treatment of decreased sound tolerance disorders within the ASD population is growing and changing.

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5. Edelson SM. Comparison of Autistic Individuals Who Engage in Self-Injurious Behavior, Aggression, and Both Behaviors. Pediatric reports. 2021; 13(4): 558-65.

BACKGROUND: Two of the most challenging behaviors exhibited by individuals on the autism spectrum are self-injurious behavior (SIB) and aggression. The aim of this study was to identify co-occurring symptoms, behaviors, and medical comorbidities that may provide insight into understanding and treating these behaviors. METHOD: A large-scale online survey was used to collect data on symptoms, behaviors, and medically related comorbidities commonly reported in individuals with autism spectrum disorders (ASD). Based on responses from 2327 participants, individuals with ASD were divided into four categories: individuals who engaged in SIB only, individuals who engaged in aggression only, individuals who engaged in both behaviors, and individuals who engaged in neither behavior. RESULTS: There were several characteristics and comorbidities associated with those who engaged in SIB only and in aggression only, in addition to those who engaged in both behaviors. CONCLUSION: The findings in this study provide evidence to support at least two underlying causes of these behaviors (insensitivity to pain and reactions to food) as well as implications for treating them. Furthermore, several behaviors often observed during early childhood may be considered early predictors of these challenging behaviors.

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6. Fortney S, Tassé MJ. Urbanicity, Health, and Access to Services for People With Intellectual Disability and Developmental Disabilities. American journal on intellectual and developmental disabilities. 2021; 126(6): 492-504.

Previous research suggests that residence in non-metropolitan areas is associated with lower access to preventive care and poorer health. However, this research has been largely restricted to the general population, despite data demonstrating disparities in health status and access to healthcare services for people with intellectual and developmental disabilities (IDD). The current study examined several hypotheses involving the effects of rurality on access to preventive healthcare and services and health status: (1) individuals in non-metropolitan areas will have lower preventive healthcare utilization, (2) individuals in non-metropolitan areas will have poorer health outcomes, and (3) individuals in non-metropolitan areas will have poorer access to services. The current study uses data from the National Core Indicators (NCI) Adult Consumer Survey 2015-2016: Final Report which included Rural-Urban Commuting Area (RUCA) Codes for the first time. Results of logistic regression suggest that, despite connection to disability services, the health status and access to preventive healthcare services of people with IDD generally follow patterns similar to those observed in the general population. Namely, people with IDD in non-metropolitan areas have decreased access to healthcare services, preventive healthcare utilization, and health status. Despite some exceptions, it appears effects of rurality are not completely mitigated by current state and federal efforts.

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7. Friedrich RE. Sella Turcica Shape in Fragile X Syndrome. In vivo (Athens, Greece). 2021; 35(6): 3581-4.

BACKGROUND: Fragile X syndrome (FXS) is a relatively common syndrome with numerous, multifaceted, and often unremarkable findings. Psychic alterations are at the forefront of treatment needs. Previous studies have provided evidence for an unusual sella turcica in some patients with FXS. This report adds to the up to now sparse findings on sella morphology in FXS. CASE REPORT: The young patient with genetically confirmed FXS was treated for a mandibular tumor. Cone beam tomography of the skull revealed a prominent sella turcica with flat tuberculum sellae and steep clivus. CONCLUSION: Unusual sella turcica formations can be observed in FXS. A correlation with other discreet changes of FXS-related skeletal development is likely.

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8. Kim KM, Meyer N, Hall-Lande J, Freeman R. Supervisory and administrative staff’s perspectives of self-directed supports for people with intellectual and developmental disabilities. Journal of applied research in intellectual disabilities : JARID. 2022; 35(2): 480-7.

BACKGROUND: Self-directed supports (SDS) are a model of disability service delivery that focuses on supporting increased decision-making authority and budget autonomy for people with disabilities and their families. This study identifies supervisory and administrative staff’s perspectives within a self-directed, individualised budgeting programme for people with intellectual and developmental disabilities. METHOD: Data were collected through 28 face-to-face interviews with supervisory and fiscal administrative staff in Minnesota, USA. RESULTS: A qualitative analysis of these interviews resulted in four major themes: (1) the benefits of SDS, (2) the relationship between SDS and person-centred strategies, (3) the perception that a natural tension arises when balancing person-centred approaches with the need for consistent and fair state policy-including rules and regulations within state systems and (4) the unique challenges related to SDS benefits and challenges occurring across Minnesota. CONCLUSIONS: The results indicate the importance of providing effective communication and training to all stakeholders.

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9. Moser C, Mattie L, Abbeduto L, Klusek J. The FMR1 Premutation Phenotype and Mother-Youth Synchrony in Fragile X Syndrome. American journal on intellectual and developmental disabilities. 2021; 126(6): 443-59.

A subset of mothers who carry the FMR1 premutation may express a unique phenotype. The relationship between the FMR1 phenotype and mother-child interaction in families with fragile X-associated disorders has not been well characterized, despite the importance of high-quality mother-child interaction for child development. This study examined the association between the FMR1 phenotype and the quality of interactions between mothers and their adolescent/young adult sons with fragile X syndrome. Mother-youth synchrony was coded from a dyadic interaction. Maternal anxiety and depression symptoms, executive function deficits, and pragmatic language difficulties were evaluated. Results indicated that pragmatic language was associated with mother-youth synchrony. These findings highlight the importance of family-centered intervention practices for families with fragile X-associated disorders.

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10. Stomnaroska O, Neskovska L. Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances. Prilozi (Makedonska akademija na naukite i umetnostite Oddelenie za medicinski nauki). 2021; 42(2): 91-4.

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

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11. Tangviriyapaiboon D, Sirithongthaworn S, Apikomonkon H, Suyakong C, Srikummoon P, Kawilapat S, Traisathit P. Development and psychometric evaluation of a Thai Diagnostic Autism Scale for the early diagnosis of Autism Spectrum Disorder. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 317-27.

The Thai Diagnostic Autism Scale (TDAS) was developed for use as a diagnostic tool for the early diagnosis of Autism Spectrum Disorder (ASD) in Thai children aged 12-48 months old. TDAS consists of 23 items (13 and 17 items in the observational and interview sections, respectively) classified into seven domains (A1-A3 and B1-B4) according to the criteria in the Diagnostic and Statistical Manual of Mental Disorder, fifth edition (DSM-5). Children with a single score in the A1-A3 domains and at least two of the B1-B4 domains were classified with ASD. The item-objective congruence (IOC) index, confirmatory factor analysis, and Kappa coefficient were used to evaluate the content, constructs, and inter-rater validity levels between the evaluators and concurrent validity between TDAS and physicians’ diagnoses, respectively. TDAS showed good overall content validity (IOC range 0.71-1.00), suitable construct validity (root-mean-squared errors of approximation of 0.076 and 0.067, comparative fit indexes of 0.902 and 0.858, and Tucker-Lewis indexes of 0.882 and 0.837 for the observation and interview sections, respectively), and excellent diagnostic agreement between TDAS and the evaluators (Kappa = 1.000) as well as between TDAS and the physicians’ diagnoses (Kappa = 0.871). The sensitivity and specificity of TDAS were 100% and 82.4%, respectively. In conclusion, TDAS yielded a high level of content validity, concurrent validity, and inter-rater reliability for the early diagnosis of ASD in Thai children. A large-scale study using TDAS is needed to determine an appropriate cut-off point as well as its efficacy. LAY SUMMARY: The Thai Diagnostic Autism Scale was developed for use as a diagnostic tool for the early diagnosis of Autism Spectrum Disorder (ASD) among Thai children. It contains 23 items in seven domains for the screening via observations and interviews. The psychometric properties of this diagnostic tool provide its reliability and suitability for the early diagnosis of ASD. A large-scale study using it is needed to determine an appropriate cut-off point as well as its efficacy.

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12. Will EA, Roberts JE. Motor Influences on Communication: Comparisons Between Down Syndrome and Fragile X Syndrome. American journal on intellectual and developmental disabilities. 2021; 126(6): 460-76.

Motor skills, an important foundation for language and communication, are considerably delayed in children with Down syndrome (DS) and fragile X syndrome (FXS). However, the impact of these impairments on expressive and receptive communication and the phenotypic specificity of these associations remains unknown. Participants included 37 with DS and 37 age and developmentally matched children with FXS. Syndrome-specific motor and communication profiles emerged, with higher communication scores seen in the DS versus FXS on, but lower gross motor scores. Significant associations between domains of motor and communication were identified for both groups with additional phenotype-specific patterns. Findings demonstrate the importance of early motor abilities for communication in DS and FXS. Implications for phenotypic specificity and targeted intervention are discussed.

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13. Yang C, Wang P, Tan J, Liu Q, Li X. Autism spectrum disorder diagnosis using graph attention network based on spatial-constrained sparse functional brain networks. Computers in biology and medicine. 2021; 139: 104963.

The accurate diagnosis of autism spectrum disorder (ASD), a common mental disease in children, has always been an important task in clinical practice. In recent years, the use of graph neural network (GNN) based on functional brain network (FBN) has shown powerful performance for disease diagnosis. The challenge to construct « ideal » FBN from resting-state fMRI data remained. Moreover, it remains unclear whether and to what extent the non-Euclidean structure of different FBNs affect the performance of GNN-based disease classification. In this paper, we proposed a new method named Pearson’s correlation-based Spatial Constraints Representation (PSCR) to estimate the FBN structures that were transformed to brain graphs and then fed into a graph attention network (GAT) to diagnose ASD. Extensive experiments on comparing different FBN construction methods and classification frameworks were conducted on the ABIDE I dataset (n = 871). The results demonstrated the superiority of our PSCR method and the influence of different FBNs on the GNN-based classification results. The proposed PSCR and GAT framework achieved promising classification results for ASD (accuracy: 72.40%), which significantly outperformed competing methods. This will help facilitate patient-control separation, and provide a promising solution for future disease diagnosis based on the FBN and GNN framework.

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14. Zorcec T, Ilijoski B, Simlesa S, Ackovska N, Rosandic M, Popcevic K, Robins B, Nitzan N, Cappel D, Blum R. Enriching Human-Robot Interaction with Mobile App in Interventions of Children with Autism Spectrum Disorder. Prilozi (Makedonska akademija na naukite i umetnostite Oddelenie za medicinski nauki). 2021; 42(2): 51-9.

Introduction: Autism spectrum disorder (ASD) is a group of complex lifelong neurodevelopmental disorders, characterized by difficulties in social communication and stereotyped behaviours. Due to the increasing number of children with ASD, it is important to continue developing interventions as well as invent new ones. Human-robot interaction can contribute to better outcomes for these children. There are several robots such as Nao, Kaspar, ZENO, Probo, ZECA, etc. which are used in autism interventions. Many mobile and web applications are in constant growth, too. They target skills such as collaboration, social skills, language skills, social competence, and communication. Aim: To explore the usability of the humanoid robot Kaspar and a complementary app in interventions of children with ASD. Sample: 20 children with ASD, aged between 23 and 76 months old. Method: As an added intervention for this group of children, we used the robot Kaspar and its complementary app. Kaspar is a child-sized humanoid robot that uses bodily expressions, facial expressions, gestures, and pre-recorded speech to interact with a human. Results: This intervention achieved certain positive shifts in eight of the eleven measured developmental domains, such as communication functions and means, turn taking, imitation, language skills, play, attention and daily life skills. The three categories that had inconsiderable improvement are vocalization and speech, cause and effect and coping skills. Conclusion: Based on the measurements before and after the use of Kaspar and its complementary app, there is improvement, primarily in the domains of language, imitation and communication skills and attention.

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