1. Abou-Abbas L, van Noordt S, Desjardins JA, Cichonski M, Elsabbagh M. Use of Empirical Mode Decomposition in ERP Analysis to Classify Familial Risk and Diagnostic Outcomes for Autism Spectrum Disorder. Brain sciences. 2021; 11(4).

Event-related potentials (ERPs) activated by faces and gaze processing are found in individuals with autism spectrum disorder (ASD) in the early stages of their development and may serve as a putative biomarker to supplement behavioral diagnosis. We present a novel approach to the classification of visual ERPs collected from 6-month-old infants using intrinsic mode functions (IMFs) derived from empirical mode decomposition (EMD). Selected features were used as inputs to two machine learning methods (support vector machines and k-nearest neighbors (k-NN)) using nested cross validation. Different runs were executed for the modelling and classification of the participants in the control and high-risk (HR) groups and the classification of diagnosis outcome within the high-risk group: HR-ASD and HR-noASD. The highest accuracy in the classification of familial risk was 88.44%, achieved using a support vector machine (SVM). A maximum accuracy of 74.00% for classifying infants at risk who go on to develop ASD vs. those who do not was achieved through k-NN. IMF-based extracted features were highly effective in classifying infants by risk status, but less effective by diagnostic outcome. Advanced signal analysis of ERPs integrated with machine learning may be considered a first step toward the development of an early biomarker for ASD.

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2. Bertamini G, Bentenuto A, Perzolli S, Paolizzi E, Furlanello C, Venuti P. Quantifying the Child-Therapist Interaction in ASD Intervention: An Observational Coding System. Brain sciences. 2021; 11(3).

BACKGROUND: Observational research plays an important part in developmental research due to its noninvasiveness. However, it has been hardly applied to investigate efficacy of the child-therapist interaction in the context of naturalistic developmental behavioral interventions (NDBI). In particular, the characteristics of child-therapist interplay are thought to have a significant impact in NDBIs in children with autism spectrum disorder (ASD). Quantitative approaches may help to identify the key features of interaction during therapy and could be translated as instruments to monitor early interventions. METHODS: n = 24 children with autism spectrum disorder (ASD) were monitored from the time of the diagnosis (T0) and after about one year of early intervention (T1). A novel observational coding system was applied to video recorded sessions of intervention to extract quantitative behavioral descriptors. We explored the coding scheme reliability together with its convergent and predictive validity. Further, we applied computational techniques to investigate changes and associations between interaction profiles and developmental outcomes. RESULTS: Significant changes in interaction variables emerged with time, suggesting that a favorable outcome is associated with interactions characterized by increased synchrony, better therapist’s strategies to successfully engage the child and scaffold longer, more complex and engaging interchanges. Interestingly, data models linked interaction profiles, outcome measures and response trajectories. CONCLUSION: Current research stresses the need for process measures to understand the hows and the whys of ASD early intervention. Combining observational techniques with computational approaches may help in explaining interindividual variability. Further, it could disclose successful features of interaction associated with better response trajectories or to different ASD behavioral phenotypes that could require specific dyadic modalities.

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3. Bieleninik Ł, Gold C. Estimating Components and Costs of Standard Care for Children with Autism Spectrum Disorder in Europe from a Large International Sample. Brain sciences. 2021; 11(3).

(1) Background: European guidelines provide recommendations for services and care for people with autism spectrum disorder (ASD), but not all interventions are generally available. Knowledge of service use and costs and wider societal costs in Europe is limited; (2) Method: Using an international sample, we analysed services and costs in 357 children (4-6.99 years) with ASD based on parent reports. Costs were transformed into EU-28 average using purchasing power parity; (3) Results: 122 children (34%) received specialist autism services; 149 (42%) received sensory/motor therapy; 205 (57%) received speech/language therapy; 35 (10%) received play therapy; 55 (15%) received behavioural interventions; 31 (9%) received social skills training; 47 (13%) participated in therapeutic recreational activities; and 59 (17%) received other services. The total number of hours for these services combined over two months was M = 34 (SD = 63; range: 0 -372). Estimated total costs of health-related services were M = 1210 EUR (SD = 2160 EUR); indirect societal costs were M = 1624 EUR (SD = 1317 EUR). Regression analyses suggested that costs rise with age and presence of intellectual disabilities, but not with severity of autism; (4) Conclusions: The high extent of community-based services indicates good accessibility but also considerable variation in the receipt of services. The costs of autism services are considerable. Further research is needed to investigate whether services received match individual needs.

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4. Bodfish JW, Lecavalier L, Harrop C, Dallman A, Kalburgi SN, Hollway J, Faldowski R, Boyd BA. Measuring the Functional Impact of Behavioral Inflexibility in Children with Autism Using the Behavioral Inflexibility Scale: Clinical Interview (BIS-CI). Journal of autism and developmental disorders. 2022; 52(2): 782-90.

For individuals with autism spectrum disorder (ASD), behavioral inflexibility can affect multiple domains of functioning and family life. The objective of this study was to develop and validate a clinical interview version of the Behavioral Inflexibility Scale. Trained interviewers conducted interviews with parents of 144 children with ASD and 70 typically developing children (ages: 3-17 years). Using exploratory factor analysis, the Behavioral Inflexibility Scale-Clinical Interview (BIS-CI) was found to be unidimensional. Reliability data indicated the measure was internally consistent (α = 0.80), achieved excellent inter-rater reliability (ICC = 0.97) and test-retest reliability (ICC = 0.87). These findings demonstrate that the BIS-CI is a reliable and valid measure to determine the functional impact of behavioral inflexibility.

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5. Bondioli M, Chessa S, Narzisi A, Pelagatti S, Zoncheddu M. Towards Motor-Based Early Detection of Autism Red Flags: Enabling Technology and Exploratory Study Protocol. Sensors (Basel, Switzerland). 2021; 21(6).

Observing how children manipulate objects while they are playing can help detect possible autism spectrum disorders (ASD) at an early stage. For this purpose, specialists seek the so-called « red-flags » of motor signature of ASD for more precise diagnostic tests. However, a significant drawback to achieve this is that the observation of object manipulation by the child very often is not naturalistic, as it involves the physical presence of the specialist and is typically performed in hospitals. In this framework, we present a novel Internet of Things support in the form factory of a smart toy that can be used by specialists to perform indirect and non-invasive observations of the children in naturalistic conditions. While they play with the toy, children can be observed in their own environment and without the physical presence of the specialist. We also present the technical validation of the technology and the study protocol for the refinement of the diagnostic practice based on this technology.

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6. Brašić JR, Nandi A, Russell DS, Jennings D, Barret O, Martin SD, Slifer K, Sedlak T, Seibyl JP, Wong DF, Budimirovic DB. Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome: A Pilot Study. International journal of molecular sciences. 2021; 22(6).

Multiple lines of evidence suggest that dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR(5)) plays a role in the pathogenesis of autism spectrum disorder (ASD). Yet animal and human investigations of mGluR(5) expression provide conflicting findings about the nature of dysregulation of cerebral mGluR(5) pathways in subtypes of ASD. The demonstration of reduced mGluR(5) expression throughout the living brains of men with fragile X syndrome (FXS), the most common known single-gene cause of ASD, provides a clue to examine mGluR(5) expression in ASD. We aimed to (A) compare and contrast mGluR(5) expression in idiopathic autism spectrum disorder (IASD), FXS, and typical development (TD) and (B) show the value of positron emission tomography (PET) for the application of precision medicine for the diagnosis and treatment of individuals with IASD, FXS, and related conditions. Two teams of investigators independently administered 3-[(18)F]fluoro-5-(2-pyridinylethynyl)benzonitrile ([(18)F]FPEB), a novel, specific mGluR(5) PET ligand to quantitatively measure the density and the distribution of mGluR(5)s in the brain regions, to participants of both sexes with IASD and TD and men with FXS. In contrast to participants with TD, mGluR(5) expression was significantly increased in the cortical regions of participants with IASD and significantly reduced in all regions of men with FXS. These results suggest the feasibility of this protocol as a valuable tool to measure mGluR(5) expression in clinical trials of individuals with IASD and FXS and related conditions.

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7. Della-Torre ME, Zavagno D, Actis-Grosso R. The Interpretation of E-Motions in Faces and Bodies Derived from Static Artworks by Individuals with High Functioning Autistic Spectrum. Vision (Basel, Switzerland). 2021; 5(2).

E-motions are defined as those affective states the expressions of which-conveyed either by static faces or body posture-embody a dynamic component and, consequently, convey a higher sense of dynamicity than other emotional expressions. An experiment is presented, aimed at testing whether e-motions are perceived as such also by individuals with autism spectrum disorders (ASDs), which have been associated with impairments in emotion recognition and in motion perception. To this aim we replicate with ASD individuals a study, originally conducted with typically developed individuals (TDs), in which we showed to both ASD and TD participants 14 bodiless heads and 14 headless bodies taken from eleven static artworks and four drawings. The Experiment was divided into two sessions. In Session 1 participants were asked to freely associate each stimulus to an emotion or an affective state (Task 1, option A); if they were unable to find a specific emotion, the experimenter showed them a list of eight possible emotions (words) and asked them to choose one from such list, that best described the affective state portrayed in the image (Task 1, option B). After their choice, they were asked to rate the intensity of the perceived emotion on a seven point Likert scale (Task 2). In Session 2 participants were requested to evaluate the degree of dynamicity conveyed by each stimulus on a 7 point Likert scale. Results showed that ASDs and TDs shared a similar range of verbal expressions defining emotions; however, ASDs (i) showed an impairment in the ability to spontaneously assign an emotion to a headless body, and (ii) they more frequently used terms denoting negative emotions (for both faces and bodies) as compared to neutral emotions, which in turn were more frequently used by TDs. No difference emerged between the two groups for positive emotions, with happiness being the emotion better recognized in both faces and in bodies. Although overall there are no significant differences between the two groups with respect to the emotions assigned to the images and the degree of perceived dynamicity, the interaction Artwork x Group showed that for some images ASDs assigned a different value than TDs to perceived dynamicity. Moreover, two images were interpreted by ASDs as conveying completely different emotions than those perceived by TDs. Results are discussed in light of the ability of ASDs to resolve ambiguity, and of possible different cognitive styles characterizing the aesthetical/emotional experience.

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8. Esposito CM, Buoli M, Ciappolino V, Agostoni C, Brambilla P. The Role of Cholesterol and Fatty Acids in the Etiology and Diagnosis of Autism Spectrum Disorders. International journal of molecular sciences. 2021; 22(7).

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders whose pathogenesis seems to be related to an imbalance of excitatory and inhibitory synapses, which leads to disrupted connectivity during brain development. Among the various biomarkers that have been evaluated in the last years, metabolic factors represent a bridge between genetic vulnerability and environmental aspects. In particular, cholesterol homeostasis and circulating fatty acids seem to be involved in the pathogenesis of ASDs, both through the contribute in the stabilization of cell membranes and the modulation of inflammatory factors. The purpose of the present review is to summarize the available data about the role of cholesterol and fatty acids, mainly long-chain ones, in the onset of ASDs. A bibliographic research on the main databases was performed and 36 studies were included in our review. Most of the studies document a correlation between ASDs and hypocholesterolemia, while the results concerning circulating fatty acids are less univocal. Even though further studies are necessary to confirm the available data, the metabolic biomarkers open to new treatment options such as the modulation of the lipid pattern through the diet.

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9. Frye RE, Cakir J, Rose S, Palmer RF, Austin C, Curtin P, Arora M. Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder. Journal of personalized medicine. 2021; 11(3).

We propose that the mitochondrion, an essential cellular organelle, mediates the long-term prenatal environmental effects of disease in autism spectrum disorder (ASD). Many prenatal environmental factors which increase the risk of developing ASD influence mitochondria physiology, including toxicant exposures, immune activation, and nutritional factors. Unique types of mitochondrial dysfunction have been associated with ASD and recent studies have linked prenatal environmental exposures to long-term changes in mitochondrial physiology in children with ASD. A better understanding of the role of the mitochondria in the etiology of ASD can lead to targeted therapeutics and strategies to potentially prevent the development of ASD.

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10. Furutani N, Takahashi T, Naito N, Maruishi T, Yoshimura Y, Hasegawa C, Hirosawa T, Kikuchi M. Complexity of Body Movements during Sleep in Children with Autism Spectrum Disorder. Entropy (Basel, Switzerland). 2021; 23(4).

Recently, measuring the complexity of body movements during sleep has been proven as an objective biomarker of various psychiatric disorders. Although sleep problems are common in children with autism spectrum disorder (ASD) and might exacerbate ASD symptoms, their objectivity as a biomarker remains to be established. Therefore, details of body movement complexity during sleep as estimated by actigraphy were investigated in typically developing (TD) children and in children with ASD. Several complexity analyses were applied to raw and thresholded data of actigraphy from 17 TD children and 17 children with ASD. Determinism, irregularity and unpredictability, and long-range temporal correlation were examined respectively using the false nearest neighbor (FNN) algorithm, information-theoretic analyses, and detrended fluctuation analysis (DFA). Although the FNN algorithm did not reveal determinism in body movements, surrogate analyses identified the influence of nonlinear processes on the irregularity and long-range temporal correlation of body movements. Additionally, the irregularity and unpredictability of body movements measured by expanded sample entropy were significantly lower in ASD than in TD children up to two hours after sleep onset and at approximately six hours after sleep onset. This difference was found especially for the high-irregularity period. Through this study, we characterized details of the complexity of body movements during sleep and demonstrated the group difference of body movement complexity across TD children and children with ASD. Complexity analyses of body movements during sleep have provided valuable insights into sleep profiles. Body movement complexity might be useful as a biomarker for ASD.

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11. Gąssowska-Dobrowolska M, Kolasa-Wołosiuk A, Cieślik M, Dominiak A, Friedland K, Adamczyk A. Alterations in Tau Protein Level and Phosphorylation State in the Brain of the Autistic-Like Rats Induced by Prenatal Exposure to Valproic Acid. International journal of molecular sciences. 2021; 22(6).

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficient social interaction and communication besides repetitive, stereotyped behaviours. A characteristic feature of ASD is altered dendritic spine density and morphology associated with synaptic plasticity disturbances. Since microtubules (MTs) regulate dendritic spine morphology and play an important role in spine development and plasticity the aim of the present study was to investigate the alterations in the content of neuronal α/β-tubulin and Tau protein level as well as phosphorylation state in the valproic acid (VPA)-induced rat model of autism. Our results indicated that maternal exposure to VPA induces: (1) decrease the level of α/β-tubulin along with Tau accumulation in the hippocampus and cerebral cortex; (2) excessive Tau phosphorylation and activation of Tau-kinases: CDK5, ERK1/2, and p70S6K in the cerebral cortex; (3) up-regulation of mTOR kinase-dependent signalling in the hippocampus and cerebral cortex of adolescent rat offspring. Moreover, immunohistochemical staining showed histopathological changes in neurons (chromatolysis) in both analysed brain structures of rats prenatally exposed to VPA. The observed changes in Tau protein together with an excessive decrease in α/β-tubulin level may suggest destabilization and thus dysfunction of the MT cytoskeleton network, which in consequence may lead to the disturbance in synaptic plasticity and the development of autistic-like behaviours.

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12. Güeita-Rodríguez J, Ogonowska-Slodownik A, Morgulec-Adamowicz N, Martín-Prades ML, Cuenca-Zaldívar JN, Palacios-Ceña D. Effects of Aquatic Therapy for Children with Autism Spectrum Disorder on Social Competence and Quality of Life: A Mixed Methods Study. International journal of environmental research and public health. 2021; 18(6).

Autism Spectrum Disorder (ASD) is a constellation of social deficits and repetitive sensory-motor behaviours. Aquatic therapy (AT) may be effective in improving the social interactions and behaviours in children with ASD. The objective of this study was to evaluate the effects of an AT program on social competence and quality of life and to understand participant’s experiences related to the intervention by obtaining qualitative data. A mixed methods intervention study was conducted among 6 children with ASD and their parents, with two research phases in a concurrent embedded design (an aquatic intervention as the quantitative design and a qualitative design in second step). The intervention and qualitative design followed international guidelines and were integrated into the method and reporting subheadings. Significant improvement was observed in the physical competence (p = 0.026) and important improvements in school functioning and aquatic skills, with no adverse events. Qualitative findings described: the meaning of AT intervention, patterns of behaviour and activities changes, social communication and social interaction. The aquatic intervention showed positive results for the social and physical competence, with elements of discordance, expansion, and confirmation between quantitative and qualitative results.

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13. Hoffmann A, Spengler D. Single-Cell Transcriptomics Supports a Role of CHD8 in Autism. International journal of molecular sciences. 2021; 22(6).

Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient therapies of patients. Progress in this area will require an understanding of « when, why and how cells deviate from their normal trajectories ». High-throughput single-cell RNA sequencing (sc-RNAseq) directly quantifies information-bearing RNA molecules that enact each cell’s biological identity. Here, we discuss recent insights from sc-RNAseq of CRISPR/Cas9-editing of Chd8/CHD8 during mouse neocorticogenesis and human cerebral organoids. Given that the deregulation of the balance between excitation and inhibition (E/I balance) in cortical and subcortical circuits is thought to represent a major etiopathogenetic mechanism in ASD, we focus on the question of whether, and to what degree, results from current sc-RNAseq studies support this hypothesis. Beyond that, we discuss the pros and cons of these approaches and further steps to be taken to harvest the full potential of these transformative techniques.

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14. Jamioł-Milc D, Bloch M, Liput M, Stachowska L, Skonieczna-Żydecka K. Tactile Processing and Quality of Sleep in Autism Spectrum Disorders. Brain sciences. 2021; 11(3).

Individuals with autism spectrum disorders (ASDs) commonly experience problems with the processing of tactile stimuli and poor quality of sleep. The aim of the present study was to analyze whether tactile stimuli modulation (TSM) disorders might be linked to insomnia prevalence in ASD individuals. We hypothesized that sleep disorders in children with ASD may result from improper tactile under/over responsivity. The study included 27 children diagnosed with ASD, aged 6.8 (±2.9 years) with male dominance (n = 22, 81.5%). To evaluate the pattern of TSM we used a clinical interview with a parent, and guided and spontaneous observation of the patients. Sleep disorders were diagnosed using the Athens Insomnia Scale. Of all the children diagnosed with TSM, 20 patients (74.1%) had an over-responsivity pattern and 7 children (25.9%) had an under-responsivity pattern. Of the patients, 11 children (40.7%) met the diagnostic criteria for insomnia. The data indicated a statistical tendency for higher prevalence of insomnia in individuals diagnosed with tactile under-responsivity (p = 0.051). We concluded that under-responsivity toward tactile stimuli may be partly responsible for poor sleep quality in ASD. There is an urgent need to treat sleep and sensory disruptions which may intensify behavioral difficulties in ASD.

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15. Joo Y, Benavides DR. Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder. International journal of molecular sciences. 2021; 22(6).

Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition associated with impairments in social interaction, communication and repetitive behaviors. While the underlying disease mechanisms remain to be fully elucidated, dysfunction of neuronal plasticity and local translation control have emerged as key points of interest. Translation of mRNAs for critical synaptic proteins are negatively regulated by Fragile X mental retardation protein (FMRP), which is lost in the most common single-gene disorder associated with ASD. Numerous studies have shown that mRNA transport, RNA metabolism, and translation of synaptic proteins are important for neuronal health, synaptic plasticity, and learning and memory. Accordingly, dysfunction of these mechanisms may contribute to the abnormal brain function observed in individuals with autism spectrum disorder (ASD). In this review, we summarize recent studies about local translation and mRNA processing of synaptic proteins and discuss how perturbations of these processes may be related to the pathophysiology of ASD.

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16. Kępka A, Ochocińska A, Chojnowska S, Borzym-Kluczyk M, Skorupa E, Knaś M, Waszkiewicz N. Potential Role of L-Carnitine in Autism Spectrum Disorder. Journal of clinical medicine. 2021; 10(6).

L-carnitine plays an important role in the functioning of the central nervous system, and especially in the mitochondrial metabolism of fatty acids. Altered carnitine metabolism, abnormal fatty acid metabolism in patients with autism spectrum disorder (ASD) has been documented. ASD is a complex heterogeneous neurodevelopmental condition that is usually diagnosed in early childhood. Patients with ASD require careful classification as this heterogeneous clinical category may include patients with an intellectual disability or high functioning, epilepsy, language impairments, or associated Mendelian genetic conditions. L-carnitine participates in the long-chain oxidation of fatty acids in the brain, stimulates acetylcholine synthesis (donor of the acyl groups), stimulates expression of growth-associated protein-43, prevents cell apoptosis and neuron damage and stimulates neurotransmission. Determination of L-carnitine in serum/plasma and analysis of acylcarnitines in a dried blood spot may be useful in ASD diagnosis and treatment. Changes in the acylcarnitine profiles may indicate potential mitochondrial dysfunctions and abnormal fatty acid metabolism in ASD children. L-carnitine deficiency or deregulation of L-carnitine metabolism in ASD is accompanied by disturbances of other metabolic pathways, e.g., Krebs cycle, the activity of respiratory chain complexes, indicative of mitochondrial dysfunction. Supplementation of L-carnitine may be beneficial to alleviate behavioral and cognitive symptoms in ASD patients.

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17. Lanzarini E, Pruccoli J, Grimandi I, Spadoni C, Angotti M, Pignataro V, Sacrato L, Franzoni E, Parmeggiani A. Phonic and Motor Stereotypies in Autism Spectrum Disorder: Video Analysis and Neurological Characterization. Brain sciences. 2021; 11(4).

Stereotypies are among the core symptoms of Autism spectrum disorder (ASD) and can cause significant clinical impairment. At present, phonic stereotypies in ASD have been scarcely explored. This study investigates the frequency, variability, and typologies of phonic and motor stereotypies in children with ASD and their association with clinical neurological variables. We examined 35 patients by recording standardized video sessions and administering the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Phonic stereotypies were present in 83.0% of the patients. The most prevalent subtypes were noncommunicative vocalizations (60.0%), single syllables (37.1%), and echolalic stereotypies (22.9%). Noncommunicative vocalizations were more frequent in nonverbal patients (OR = 4.629, p = 0.008), while echolalic stereotypies were more represented in verbal patients (OR = 0.279, p = 0.028). Patients with intellectual disability (ID) showed a higher number (F(1,26) = 9.406, p = 0.005) and variability (F(1,25) = 7.174, p = 0.013) of motor stereotypies, with a higher number (F(1,26) = 13.268, p = 0.005) and variability (F(1,26) = 9.490, p = 0.005) of stereotypies involving the head/trunk/shoulders category. Patients with guttural stereotypies showed a higher variability of total motor stereotypies (OR = 1.487, p = 0.032) and self-directed motor stereotypies (OR = 4.389, p = 0.042). These results, combined with a standardized video-analysis, document the frequency and variability of phonic stereotypies among children with ASD. Correlations between specific phonic stereotypies and verbal abilities should be investigated further.

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18. Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. American journal of human genetics. 2021; 108(5): 929-41.

Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional repression. Among the two vertebrate paralogs encoding the Sin3 complex, SIN3A variants cause syndromic intellectual disability, but the clinical consequences of SIN3B haploinsufficiency in humans are uncharacterized. Here, we describe a syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant autism spectrum disorder, congenital malformations, corpus callosum defects, and impaired growth caused by disruptive SIN3B variants. Using chromosomal microarray or exome sequencing, and through international data sharing efforts, we identified nine individuals with heterozygous SIN3B deletion or single-nucleotide variants. Five individuals harbor heterozygous deletions encompassing SIN3B that reside within a ∼230 kb minimal region of overlap on 19p13.11, two individuals have a rare nonsynonymous substitution, and two individuals have a single-nucleotide deletion that results in a frameshift and predicted premature termination codon. To test the relevance of SIN3B impairment to measurable aspects of the human phenotype, we disrupted the orthologous zebrafish locus by genome editing and transient suppression. The mutant and morphant larvae display altered craniofacial patterning, commissural axon defects, and reduced body length supportive of an essential role for Sin3 function in growth and patterning of anterior structures. To investigate further the molecular consequences of SIN3B variants, we quantified genome-wide enhancer and promoter activity states by using H3K27ac ChIP-seq. We show that, similar to SIN3A mutations, SIN3B disruption causes hyperacetylation of a subset of enhancers and promoters in peripheral blood mononuclear cells. Together, these data demonstrate that SIN3B haploinsufficiency leads to a hitherto unknown intellectual disability/autism syndrome, uncover a crucial role of SIN3B in the central nervous system, and define the epigenetic landscape associated with Sin3 complex impairment.

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19. Lei X, Kantor J. Social Support and Family Functioning in Chinese Families of Children with Autism Spectrum Disorder. International journal of environmental research and public health. 2021; 18(7).

Families caring for children with autism spectrum disorder (ASD) have reported poorer family functioning. Social support might strengthen family functioning, but limited research to date has focused on this association in China. This study conducted a cross-sectional survey of Chinese families that have children with ASD to examine the relationship between social support and family functioning. Caregivers of children with ASD from Sichuan province in China (N = 167) were surveyed concerning their perceived social support and family functioning. The Social Support Rating Scale was used to investigate caregivers’ perceived social support from three dimensions: subjective support, objective support, and the utilization of support. A Chinese version of the Family Adaptability and Cohesion Scale was used to investigate their perceptions of family cohesion and adaptability. The Pearson correlation coefficient and stepwise multiple regression were used for analyses. The results suggested that social support was positively related to family cohesion and adaptability. Of the three sub-domains of social support, both subjective support and the utilization of support were positively associated with family cohesion and adaptability. The study’s findings evidenced the importance of different types of social support and could be used to develop a targeted support service for families that have children with ASD to improve their family functioning and sustain the family unit.

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20. Muthusamy B, Bellad A, Girimaji SC, Pandey A. Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene. Genes. 2021; 12(3).

Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder. The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla-Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the BCORL1 gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families.

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21. Navarro-Pardo E, López-Ramón F, Alonso-Esteban Y, Alcantud-Marín F. Diagnostic Tools for Autism Spectrum Disorders by Gender: Analysis of Current Status and Future Lines. Children (Basel, Switzerland). 2021; 8(4).

Studies on the prevalence of autism spectrum disorders have shown gender disproportion. In recent years, there has been an increasing interest in this investigation area. There are two main research lines; the first is focused mostly on gender-related biological reasons that could account for low ASD prevalence in women (i.e., related to some protective factors related to hormones or the immune system, among others), and the second research line studies possible diagnostic biases. In the present study, a review of the latter line of research is made based on two main objectives: (a) analysis of possible biases in diagnostic tools and (b) other nonbiological ASD prevalence explained by gender differences. As a result of our theoretical review, we found that the articles reviewed showed contradictory results and possible diagnostic biases, not only in their design but also in their assessment standards. We concluded that specific or complementary diagnostic tools and procedures differentiated by gender should be developed in order to reduce these biases.

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22. Nguyen T, Miguel HO, Condy EE, Park S, Gandjbakhche A. Using Functional Connectivity to Examine the Correlation between Mirror Neuron Network and Autistic Traits in a Typically Developing Sample: A fNIRS Study. Brain sciences. 2021; 11(3).

Mirror neuron network (MNN) is associated with one’s ability to recognize and interpret others’ actions and emotions and has a crucial role in cognition, perception, and social interaction. MNN connectivity and its relation to social attributes, such as autistic traits have not been thoroughly examined. This study aimed to investigate functional connectivity in the MNN and assess relationship between MNN connectivity and subclinical autistic traits in neurotypical adults. Hemodynamic responses, including oxy- and deoxy-hemoglobin were measured in the central and parietal cortex of 30 healthy participants using a 24-channel functional Near-Infrared spectroscopy (fNIRS) system during a live action-observation and action-execution task. Functional connectivity was derived from oxy-hemoglobin data. Connections with significantly greater connectivity in both tasks were assigned to MNN connectivity. Correlation between connectivity and autistic traits were performed using Pearson correlation. Connections within the right precentral, right supramarginal, left inferior parietal, left postcentral, and between left supramarginal-left angular regions were identified as MNN connections. In addition, individuals with higher subclinical autistic traits present higher connectivity in both action-execution and action-observation conditions. Positive correlation between MNN connectivity and subclinical autistic traits can be used in future studies to investigate MNN in a developing population with autism spectrum disorder.

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23. Ong SY, Roslan S, Ahmad NA, Ayub AFM, Ping CL, Zaremohzzabieh Z, Ahrari S. A Mixed-Methods Evaluation of Parent-Assisted Children’s Friendship Training to Improve Social Skills and Friendship Quality in Children with Autism in Malaysia. International journal of environmental research and public health. 2021; 18(5).

Background: This study evaluates the effectiveness of parent-assisted children’s friendship training intervention for enhancing friendship quality and social skills among children with autism spectrum disorders (ASD). We conducted a quasi-experimental study to investigate the effective outcomes of social skills and friendship quality in the pre-and post-parent-assisted CFT intervention phases; Methods: to conduct a 12-week field session, 30 children with their parents were selected. The Social Skills Improvement System Rating Scales and the Quality of Play Questionnaire-Parent were used to assess the effectiveness of the parent-assisted children’s friendship training during pre-and post-intervention. A semi-structured interview with parents was conducted at the end of the session; Results: findings revealed that intervention improved the social skills of these children. Additionally, the friendship quality of children with ASD improved before and after the intervention, however, engagement remained unchanged. Parents also showed some sort of improvement after the session as they reported a heightened sense of fear and resistance, awareness, learning and adjustment, change is not easy, and identifying support; Conclusions: there was clear evidence that children with ASD benefitted from parent-assisted CFTs in terms of social skills and friendship quality. However, larger and controlled studies are required to draw firm conclusions about this kind of intervention.

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24. Ornoy A, Becker M, Weinstein-Fudim L, Ergaz Z. Diabetes during Pregnancy: A Maternal Disease Complicating the Course of Pregnancy with Long-Term Deleterious Effects on the Offspring. A Clinical Review. International journal of molecular sciences. 2021; 22(6).

In spite of the huge progress in the treatment of diabetes mellitus, we are still in the situation that both pregestational (PGDM) and gestational diabetes (GDM) impose an additional risk to the embryo, fetus, and course of pregnancy. PGDM may increase the rate of congenital malformations, especially cardiac, nervous system, musculoskeletal system, and limbs. PGDM may interfere with fetal growth, often causing macrosomia, but in the presence of severe maternal complications, especially nephropathy, it may inhibit fetal growth. PGDM may also induce a variety of perinatal complications such as stillbirth and perinatal death, cardiomyopathy, respiratory morbidity, and perinatal asphyxia. GDM that generally develops in the second half of pregnancy induces similar but generally less severe complications. Their severity is higher with earlier onset of GDM and inversely correlated with the degree of glycemic control. Early initiation of GDM might even cause some increase in the rate of congenital malformations. Both PGDM and GDM may cause various motor and behavioral neurodevelopmental problems, including an increased incidence of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Most complications are reduced in incidence and severity with the improvement in diabetic control. Mechanisms of diabetic-induced damage in pregnancy are related to maternal and fetal hyperglycemia, enhanced oxidative stress, epigenetic changes, and other, less defined, pathogenic mechanisms.

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25. Özdemir YE, Tanir Y. Low-Dose Aripiprazole-Induced Nocturnal Enuresis in a 9-Year-Old Boy: A Case Report and the Possible Underlying Mechanism. Clinical neuropharmacology. 2021; 44(3): 108-9.

Aripiprazole is an atypical antipsychotic commonly used in the treatment of psychiatric disorders, such as schizophrenia, bipolar disorder, and irritability associated with autism spectrum disorder. Common adverse effects associated with aripiprazole usage in children and adolescents are nausea, vomiting, extrapyramidal adverse effects, akathisia, sedation, tremor, and increased appetite. Enuresis is one of the least expected adverse effects during aripiprazole use. The pathophysiology of aripiprazole-induced enuresis has not been fully clarified. To our knowledge, our report presents enuresis related to aripiprazole use at the lowest dose in the literature. In this report, we present the case of a 9-year-old boy who developed nocturnal enuresis after the beginning of low-dose aripiprazole treatment.

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26. Pandolfo G, Genovese G, Casciaro M, Muscatello MRA, Bruno A, Pioggia G, Gangemi S. IL-33 in Mental Disorders. Medicina (Kaunas, Lithuania). 2021; 57(4).

Mental disorders are common in the general population; every year about 25% of the total European population is affected by a mental condition. The prevalence of psychiatric disorders might be underestimated. Emerging evidence highlights the role of immune response as a key factor in MDs. Immunological biomarkers seem to be related to illness progression and to treatment effectiveness; several studies suggest strong associations among IL-6, TNFa, S100b, IL 1b, and PCR with affective or schizophrenic disorders. The purpose of this review is to examine and to understand the possible link between mental disorders and interleukin 33 to clarify the role of this axis in the immune system. We found 13 research papers that evaluated interleukin 33 or interleukin 31 levels in subjects affected by mental disorders. Eight studies investigated cytokines in affective disorders. Three studies measured levels of IL-33 in schizophrenia and two studies focused on patients affected by autism spectrum disorders. Alterations in brain structure and neurodevelopmental outcome are affected by multiple levels of organization. Disorders of the autoimmune response, and of the IL-33/31 axis, may therefore be one of the factors involved in this process. These results support the evidence that alarmins, particularly the IL-33/31 axis, need more consideration among researchers and practitioners.

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27. Papadopoulos D. Mothers’ Experiences and Challenges Raising a Child with Autism Spectrum Disorder: A Qualitative Study. Brain sciences. 2021; 11(3).

Although the study of autism is burgeoning with important implications both for public health and society, there is little research exploring the experiences of raising a child with autism spectrum disorder (ASD) from the maternal perspective. The aim of this study was to investigate the lived experiences of mothers of children with ASD in Greece. Nine mothers of children with ASD were recruited and engaged in semistructured interviews. Transcripts of the interviews were analyzed using interpretative phenomenological analysis. Three interconnected themes were identified in the analysis: (a) emotional burden, (b) family burden, and (c) social burden. A key finding in the themes was the sense of burden, distress, and vulnerability experienced by the mothers. The findings provide valuable understanding of the experiences of mothers raising children with ASD in one of Europe’s medium-income countries. Further, results can be used by researchers, clinicians, mental health providers, and policy makers to address the unique needs of families caring for and supporting children with ASD.

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28. Schultz S, Gould GG, Antonucci N, Brigida AL, Siniscalco D. Endocannabinoid System Dysregulation from Acetaminophen Use May Lead to Autism Spectrum Disorder: Could Cannabinoid Treatment Be Efficacious?. Molecules (Basel, Switzerland). 2021; 26(7).

Persistent deficits in social communication and interaction, and restricted, repetitive patterns of behavior, interests or activities, are the core items characterizing autism spectrum disorder (ASD). Strong inflammation states have been reported to be associated with ASD. The endocannabinoid system (ECS) may be involved in ASD pathophysiology. This complex network of lipid signaling pathways comprises arachidonic acid and 2-arachidonoyl glycerol-derived compounds, their G-protein-coupled receptors (cannabinoid receptors CB1 and CB2) and the associated enzymes. Alterations of the ECS have been reported in both the brain and the immune system of ASD subjects. ASD children show low EC tone as indicated by low blood levels of endocannabinoids. Acetaminophen use has been reported to be associated with an increased risk of ASD. This drug can act through the ECS to produce analgesia. It may be that acetaminophen use in children increases the risk for ASD by interfering with the ECS.This mini-review article summarizes the current knowledge on this topic.

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29. Shuid AN, Jayusman PA, Shuid N, Ismail J, Kamal Nor N, Mohamed IN. Association between Viral Infections and Risk of Autistic Disorder: An Overview. International journal of environmental research and public health. 2021; 18(6).

Autism spectrum disorder (ASD) is a neurodevelopmental condition of the central nervous system (CNS) that presents with severe communication problems, impairment of social interactions, and stereotypic behaviours. Emerging studies indicate possible associations between viral infections and neurodegenerative and neurobehavioural conditions including autism. Viral infection during critical periods of early in utero neurodevelopment may lead to increased risk of autism in the offspring. This review is aimed at highlighting the association between viral infections, including viruses similar to COVID-19, and the aetiology of autism. A literature search was conducted using Pubmed, Ovid/Medline, and Google Scholar database. Relevant search terms included « rubella and autism », « cytomegalovirus and autism », « influenza virus and autism », « Zika virus and autism », « COVID-19 and autism ». Based on the search terms, a total of 141 articles were obtained and studies on infants or children with congenital or perinatal viral infection and autistic behaviour were evaluated. The possible mechanisms by which viral infections could lead to autism include direct teratogenic effects and indirect effects of inflammation or maternal immune activation on the developing brain. Brain imaging studies have shown that the ensuing immune response from these viral infections could lead to disruption of the development of brain regions and structures. Hence, long-term follow up is necessary for infants whose mothers report an inflammatory event due to viral infection at any time during pregnancy to monitor for signs of autism. Research into the role of viral infection in the development of ASD may be one avenue of improving ASD outcomes in the future. Early screening and diagnosis to detect, and maybe even prevent ASD are essential to reduce the burden of this condition.

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30. Tartarisco G, Cicceri G, Di Pietro D, Leonardi E, Aiello S, Marino F, Chiarotti F, Gagliano A, Arduino GM, Apicella F, Muratori F, Bruneo D, Allison C, Cohen SB, Vagni D, Pioggia G, Ruta L. Use of Machine Learning to Investigate the Quantitative Checklist for Autism in Toddlers (Q-CHAT) towards Early Autism Screening. Diagnostics (Basel, Switzerland). 2021; 11(3).

In the past two decades, several screening instruments were developed to detect toddlers who may be autistic both in clinical and unselected samples. Among others, the Quantitative CHecklist for Autism in Toddlers (Q-CHAT) is a quantitative and normally distributed measure of autistic traits that demonstrates good psychometric properties in different settings and cultures. Recently, machine learning (ML) has been applied to behavioral science to improve the classification performance of autism screening and diagnostic tools, but mainly in children, adolescents, and adults. In this study, we used ML to investigate the accuracy and reliability of the Q-CHAT in discriminating young autistic children from those without. Five different ML algorithms (random forest (RF), naïve Bayes (NB), support vector machine (SVM), logistic regression (LR), and K-nearest neighbors (KNN)) were applied to investigate the complete set of Q-CHAT items. Our results showed that ML achieved an overall accuracy of 90%, and the SVM was the most effective, being able to classify autism with 95% accuracy. Furthermore, using the SVM-recursive feature elimination (RFE) approach, we selected a subset of 14 items ensuring 91% accuracy, while 83% accuracy was obtained from the 3 best discriminating items in common to ours and the previously reported Q-CHAT-10. This evidence confirms the high performance and cross-cultural validity of the Q-CHAT, and supports the application of ML to create shorter and faster versions of the instrument, maintaining high classification accuracy, to be used as a quick, easy, and high-performance tool in primary-care settings.

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31. Thomas L, Lockwood PL, Garvert MM, Balsters JH. Contagion of Temporal Discounting Value Preferences in Neurotypical and Autistic Adults. Journal of autism and developmental disorders. 2022; 52(2): 700-13.

Neuroeconomics paradigms have demonstrated that learning about another’s beliefs can make you more like them (i.e., contagion). Due to social deficits in autism, it is possible that autistic individuals will be immune to contagion. We fit Bayesian computational models to a temporal discounting task, where participants made decisions for themselves before and after learning the distinct preferences of two others. Two independent neurotypical samples (N = 48; N = 98) both showed a significant contagion effect; however the strength of contagion was unrelated to autistic traits. Equivalence tests showed autistic (N = 12) and matched neurotypical N = 12) samples had similar levels of contagion and accuracy when learning about others. Despite social impairments being at the core of autistic symptomatology, contagion of value preferences appears to be intact.

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32. Tola G, Talu V, Congiu T, Bain P, Lindert J. Built Environment Design and People with Autism Spectrum Disorder (ASD): A Scoping Review. International journal of environmental research and public health. 2021; 18(6).

Built environment design can be considered as an influential factor in the quality of life of people with autism spectrum disorder (ASD). This scoping review provides an overview of the current available literature on the relationship between people with ASD and built environment in the specific field of the design of autism-friendly spaces. The literature review allowed the identification of three main factors to be considered when designing for people with ASD-the sensory quality, the intelligibility, and the predictability of the built environment-and, for each of them, a description of the spatial requirements that have been recognized as fundamental according to the specific spatial needs of people with ASD.

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33. Torrens V, Ruiz C. Language and Communication in Preschool Children with Autism and Other Developmental Disorders. Children (Basel, Switzerland). 2021; 8(3).

In this research, we studied the language and communication skills of preschool children with a diagnosis of autistic syndrome disorder (ASD) (n = 51) compared to children with other developmental disorders (DD) (n = 42), using direct measures and parental reports when assessing the development of language and communication. As a novelty, this research studied a sample of children with low language and communication skills. We found a high correlation between direct measures and parental reports for both populations. Therefore, we propose that combining the information supplied by direct measures together with that supplied by parental reports would be a suitable strategy for language assessment in these populations. In addition, the results show a delay in language comprehension with respect to language production in children with ASD, along with many difficulties with non-verbal communication, compared to children with other developmental disorders (DD). We also found significant differences between both groups with respect to lexical categories. The differences in language and communication profiles of children with ASD compared to children with other DD might have some implications for diagnoses and language intervention in these populations.

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34. Trivedi C, Mansuri Z, Baweja R. Steroids With Risperidone: Is it Really a New Frontier in the Treatment of Autism Spectrum Disorders Among Children and Adolescents?. Clinical neuropharmacology. 2021; 44(3): 114-5.

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35. Van de Cruys S, Lemmens L, Sapey-Triomphe LA, Chetverikov A, Noens I, Wagemans J. Structural and contextual priors affect visual search in children with and without autism. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1484-95.

Bayesian predictive coding theories of autism spectrum disorder propose that impaired acquisition or a broader shape of prior probability distributions lies at the core of the condition. However, we still know very little about how probability distributions are learned and encoded by children, let alone children with autism. Here, we take advantage of a recently developed distribution learning paradigm to characterize how children with and without autism acquire information about probability distributions. Twenty-four autistic and 25-matched neurotypical children searched for an odd-one-out target among a set of distractor lines with orientations sampled from a Gaussian distribution repeated across multiple trials to allow for learning of the parameters (mean and variance) of the distribution. We could measure the width (variance) of the participant’s encoded distribution by introducing a target-distractor role-reversal while varying the similarity between target and previous distractor mean. Both groups performed similarly on the visual search task and learned the distractor distribution to a similar extent. However, the variance learned was much broader than the one presented, consistent with less informative priors in children irrespective of autism diagnosis. These findings have important implications for Bayesian accounts of perception throughout development, and Bayesian accounts of autism specifically. LAY SUMMARY: Recent theories about the underlying cognitive mechanisms of autism propose that the way autistic individuals estimate variability or uncertainty in their perceptual environment may differ from how typical individuals do so. Children had to search an oddly tilted line in a set of lines pointing in different directions, and based on their response times we examined how they learned about the variability in a set of objects. We found that autistic children learn variability as well as typical children, but both groups learn with less precision than typical adults do on the same task.

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36. Yoshimura Y, Ikeda T, Hasegawa C, An KM, Tanaka S, Yaoi K, Iwasaki S, Saito DN, Kumazaki H, Hiraishi H, Kikuchi M. Shorter P1m Response in Children with Autism Spectrum Disorder without Intellectual Disabilities. International journal of molecular sciences. 2021; 22(5).

(1) Background: Atypical auditory perception has been reported in individuals with autism spectrum disorder (ASD). Altered auditory evoked brain responses are also associated with childhood ASD. They are likely to be associated with atypical brain maturation. (2) Methods: This study examined children aged 5-8 years old: 29 with ASD but no intellectual disability and 46 age-matched typically developed (TD) control participants. Using magnetoencephalography (MEG) data obtained while participants listened passively to sinusoidal pure tones, bilateral auditory cortical response (P1m) was examined. (3) Results: Significantly shorter P1m latency in the left hemisphere was found for children with ASD without intellectual disabilities than for children with TD. Significant correlation between P1m latency and language conceptual ability was found in children with ASD, but not in children with TD. (4) Conclusions: These findings demonstrated atypical brain maturation in the auditory processing area in children with ASD without intellectual disability. Findings also suggest that ASD has a common neural basis for pure-tone sound processing and language development. Development of brain networks involved in language concepts in early childhood ASD might differ from that in children with TD.

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37. Zavery A, Zäch M, Bertrams A. Test Anxiety in Autistic University Students-Preliminary Results from a German-Speaking Sample. Brain sciences. 2021; 11(3).

Autism is a neurodevelopmental condition associated with increased levels of anxiety. However, whether autism is related to heightened test anxiety as one situation-specific type of anxiety has not yet been examined. This question may be relevant for the achievement and well-being of autistic people in educational settings (e.g., at universities). In this study, we took a first step to investigate whether autistic university students have increased test anxiety. A sample of 16 German-speaking university students completed an established diagnostic instrument to measure test anxiety and its components of worry, emotionality, cognitive interference, and lack of confidence. The scores of the autistic students were compared with the test anxiety means and percentile ranks of the standardization sample for the applied test anxiety measure (n = 1350). For an additional comparison, the test anxiety means and percentile ranks of non-autistic university students (n = 101) were assessed during the last third of the semester; that is, close to the examinations. Overall, the results suggest that autistic university students have remarkably increased test anxiety. Although the present findings must be considered preliminary, they suggest that text anxiety in educational settings may be a neglected significant problem for autistic people that requires further attention in research and practice.

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38. Zhao M, Chen S, You Y, Wang Y, Zhang Y. Effects of a Therapeutic Horseback Riding Program on Social Interaction and Communication in Children with Autism. International journal of environmental research and public health. 2021; 18(5).

Various therapeutic interventions have been studied and found to be effective in reducing the stereotypical behaviors of children with autism spectrum disorder (ASD). There has been increasing interest in using animal-assisted interventions (AAIs) as an alternative approach to therapeutic rehabilitation for children with ASD, and many studies have reported that AAI has significant benefits for the cognitive, psychological, and social behavior of children with ASD. The present study was designed to examine the effects of a 16 weeks therapeutic horseback riding program on social interaction and communication skills in children with autism. Eighty-four children diagnosed with ASD, aged between 6 and 12 years old, were recruited for this study. All selected participants met the DSM-V criteria, and a total of sixty-one participants (N = 61) completed the study. A quasi-experimental design with an experimental group and control group was implemented for this study, taking measurements at pre-test, interim-test, and post-test to monitor the behavior changes in social and communication throughout the 16-week intervention. Repeated measures ANOVA and the independent sample t-test were used for data analysis, to assess the difference between the experimental group and control group. The results indicated that the THR program had positive influences on overall social skills and communication, based on the SSIS and the ABLLS-R scores, compared to the control group (p < 0.05). A notable improvement in the overall social interaction score was observed from the interim-testing point to post-test. In addition, participants in the therapeutic horseback riding (THR) group achieved significant improvements on six out of seven items in their communication evaluations. In conclusion, after 16 weeks of intervention, the THR program significantly enhanced the subdomains of social and communication skills in the areas of social interaction, communication, responsibility, and self-control, compared to the control group.

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39. Zhao S, Chen WJ, Kwok OM, Dhar SU, Eble TN, Tseng TS, Chen LS. Psychometric Properties of the POAGTS: A Tool for Understanding Parents’ Perceptions Regarding Autism Spectrum Disorder Genetic Testing. International journal of environmental research and public health. 2021; 18(6).

Due to the increased prevalence of Autism Spectrum Disorder (ASD), more children with ASD may be referred for genetic testing. It is important to develop a tool to help parents consider the benefits and drawbacks of genetic testing for ASD before pursuing genetic testing for children with ASD. We developed the first theory-based survey-Perceptions of ASD Genetic Testing Survey (POAGTS), as a tool to assist healthcare providers to better understand parents’ perceptions and concerns regarding ASD genetic testing. The psychometric properties of POAGTS were first pre-tested and then formally tested with 308 parents of children with ASD who had not decided whether to pursue genetic testing for their children diagnosed with ASD. Findings suggest that the eight scales of the POAGTS were psychometrically sound, and had acceptable data reliability and validity. Additional research with various samples, such as parents of children with ASD who belong to diverse racial/ethnic and socioeconomic groups, is warranted in the future to determine whether the POAGTS is applicable to these particular groups. Condensing and refining this tool to a shorter, more user-friendly version is also recommended for future research.

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