1. Alonso-Esteban Y, Alcantud-Marín F. Screening, Diagnosis and Early Intervention in Autism Spectrum Disorders. Children (Basel, Switzerland). 2022; 9(2).

The increment of prevalence is among the most important changes that have taken place in recent years with regard to Autism Spectrum Disorder (ASD); in the 1970s and 1980s of the 20th century, the prevalence of ASD was estimated to be 4/10,000 […].

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2. Bonete S, Molinero C, Garrido-Zurita A. Generalization Task for Developing Social Problem-Solving Skills among Young People with Autism Spectrum Disorder. Children (Basel, Switzerland). 2022; 9(2).

This study aims to examine the usefulness of an ad hoc worksheet for an Interpersonal Problem-Solving Skills Program (SCI-Labour) the effectiveness of which was tested by Bonete, Calero, and Fernández-Parra (2015). Data were taken from 44 adolescents and young adults with Autism Spectrum Disorder (ASD) (age M = 19.73; SD = 3.53; 39 men and 5 women; IQ M = 96.27, SD = 15.98), compared to a matched group (in age, sex, and nonverbal IQ) of 48 neurotypical participants. The task was conceived to promote the generalization of interpersonal problem-solving skills by thinking on different possible scenarios in the workplace after the training sessions. The results show lower scores in the worksheet delivered for homework (ESCI-Generalization Task) in the ASD Group compared to neurotypicals in total scores and all domains (Problem Definition, Quality of Causes, and Solution Suitability) prior to program participation. In addition, after treatment, improvement of the ASD Group was observed in the Total Score ESCI-Generalization Task and in the domains of Problem Definition, Quality of Causes, Number or Alternatives and Consequences, Time, and Solution Suitability. This is a valuable task in furthering learning within the SCI-Labour Program and may be a supplementary material in addressing the difficulties of interpersonal skills within this population, both in the workplace and in daily life. In conclusion, this task may provide useful information for identifying key difficulties among this population and could be implemented in a clinical setting as a complement to the SCI-Labour Program.

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3. Borgi M, Chiarotti F, Aresu G, Gitti F, Fazzi E, Pierini A, Sebastiani T, Marcelli M, Scifo R, Stagi P, Venerosi A. Management of Autism Spectrum Disorder in Italian Units of Child and Adolescent Mental Health: Diagnostic and Referral Pathways. Brain sciences. 2022; 12(2).

Overall, the present pilot study provides detailed information on clinical management for Autism Spectrum Disorder (ASD) referral and diagnosis processes that are mandatory for child and adolescent mental health management. The analysis of ASD management, even if carried out on a selected sample of Child and Adolescent Mental Health (CAMH) units, represents a good approximation of how, in Italian outpatient settings, children and adolescents with ASD are recognised and eventually diagnosed. One of the aims of the study was to verify the adherence of Italian CAMH units to international recommendations for ASD referral and diagnosis and whether these processes can be traced using individual chart reports. Overall, the analysis evidenced that Italian CAMH units adopt an acceptable standard for ASD diagnosis, although the reporting of the ASD managing process in the individual chart is not always accurate. Furthermore, data collected suggest some improvements that CAMH units should implement to fill the gap with international recommendations, namely, establishing a multidisciplinary team for diagnosis, improving the assessment of physical and mental conditions by the use of standardised tools, implementing a specific assessment for challenging behaviours that could allow timely and specific planning of intervention.

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4. Buffle P, Naranjo A, Gentaz E, Vivanti G. Experiences and Attitudes on Early Identification Practices of Autism: A Preliminary Survey of Pediatric Professionals in Ecuador. Children (Basel, Switzerland). 2022; 9(2).

Early identification of children with autism is necessary to support their social and communicative skills and cognitive, verbal, and adaptive development. Researchers have identified several barriers to early diagnosis. Data collected in low- and middle-income contexts-where the vast majority of children in the world live-is scarce. In Ecuador, as in many other countries, estimates are lower compared to the global prevalence. Health authorities estimate a prevalence of 0.28% (0.18%-0.41%) in children aged five years old or less. Based on the hypothesis that, as in many parts of the world, children in Ecuador are not routinely screened and that this situation may result from poor recognition of this condition, our objective was to identify potential obstacles to case identification in pediatric settings. Several barriers, consistent with those identified in other countries, were reported by 153 participants on a survey, including lack of time, lack of resources to refer, fear of unnecessarily alarming families, and lack of information to guide families with concerns. The vast majority of participants are aware of the need for a screening tool for autism detection but report a lack of knowledge of its formal application. Most of the barriers reported in this study could be overcome by educational programs tailored to professional needs in order to support the well-being of children with autism and their families.

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5. Butler MG, Moreno-De-Luca D, Persico AM. Actionable Genomics in Clinical Practice: Paradigmatic Case Reports of Clinical and Therapeutic Strategies Based upon Genetic Testing. Genes. 2022; 13(2).

In clinical settings, the information provided by genetic testing can explain the triggers and processes underlying clinical presentations, such as neurodevelopmental disorders, in up to one third of affected individuals. However, translating this knowledge into better and more personalized clinical management to many appears a distant target. This article presents three paradigmatic cases to exemplify how this translational effort can, at least in some instances, be undertaken today with very positive results: (a) a young girl carrying a chr. 16p11.2 duplication can be screened using targeted exams and undertake therapeutic/preventive interventions related to her genetic diagnosis; (b) a 13-year-old boy with intellectual disability and autism spectrum disorder carries a chr. 11q14.1 deletion, partly spanning the DLG2 gene important for synaptic function, and gained over 20 I.Q. points ostensibly due to carbolithium, prescribed in the absence of affective symptoms, exclusively following the pathophysiology pointed out by the genetic results; (c) a 58-year-old woman carries a COL3A1 gene variant responsible for the vascular form of Ehler-Danlos syndrome with colon rupture. Detection of this variant in six members of her extended family allows for better clinical management of the proband and targeted genetic counselling for family members at risk of this connective tissue disorder. The unprecedented flow of genetic information available today through new technologies, if interpreted in the light of current knowledge in clinical diagnosis and care of those with connective tissue disorders and neurodevelopmental disturbances, in biology and in neuropsychopharmacology, can promote better clinical and pharmacological treatment, disease surveillance, and management provided and incorporated into the clinical setting.

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6. Chu JH, Bian F, Yan RY, Li YL, Cui YH, Li Y. Comparison of diagnostic validity of two autism rating scales for suspected autism in a large Chinese sample. World journal of clinical cases. 2022; 10(4): 1206-17.

BACKGROUND: Autism is the most common clinical developmental disorder in children. The childhood autism rating scale (CARS) and autistic autism behavior checklist (ABC) are the most commonly used assessment scales for diagnosing autism. However, the diagnostic validations and the corresponding cutoffs for CARS and ABC in individuals with suspected autism spectrum disorder (ASD) remain unclear. Furthermore, for suspected ASD in China, it remains unclear whether CARS is a better diagnostic tool than ABC. Also unclear is whether the current cutoff points for ABC and CARS are suitable for the accurate diagnosis of ASD. AIM: To investigate the diagnostic validity of CARS and ABC based on a large Chinese sample. METHODS: A total of 591 outpatient children from the ASD Unit at Beijing Children’s Hospital between June and November 2019 were identified. First, the Clancy autism behavior scale (CABS) was used to screen out suspected autism from these children. Then, each suspected ASD was evaluated by CARS and ABC. Receiver operating characteristic (ROC) curve analysis was used to compare diagnostic validations. We also calculated the area under the curve (AUC) for both CARS and ABC. RESULTS: We found that the Cronbach alpha coefficients of CARS and ABC were 0.772 and 0.426, respectively. Therefore, the reliability of the CARS was higher than that of the ABC. In addition, we found that the correlation between CARS and CABS was 0.732. Next, we performed ROC curve analysis for CARS and ABC, which yielded AUC values of 0.846 and 0.768, respectively. The cutoff value, which is associated with the maximum Youden index, is usually applied as a decision threshold. We found that the cutoff values of CARS and ABC were 34 and 67, respectively. CONCLUSION: This result indicated that CARS is superior to ABC in the Chinese population with suspected ASD.

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7. Colombo P, Buo N, Busti Ceccarelli S, Molteni M. Integrating a New Online Platform in Primary Care for Early Detection, Referral, and Intervention in Autism Spectrum Disorder: The First Italian Pivotal Project. Brain sciences. 2022; 12(2).

Autism spectrum disorder (ASD) is a heterogeneous condition characterized by deficits in social communication and a repetitive pattern of behavior, with recent Italian prevalence estimates of 1 in 77. Although the core behavioral features of ASD appear to emerge within the first two years of life, clinical diagnosis is often not received before the third birthday. The American Academy of Pediatrics (AAP) has recommended that primary care physicians routinely screen for ASD at the 18- and 24-month visits. In Italy, the Guidelines of the Italian National Institute for Health (ISS) recommend the Checklist for Autism in Toddlers (CHAT) as a screening tool for ASD, which compares parent responses with a semistructured observation by a healthcare provider. In the Italian National Health System, pediatricians have regular visits with all children; however, there is wide variability in following screening guidelines, and some barriers have been detected. For these reasons, other studies have highlighted the advantages of using telemedicine with the potential for enhancing ASD screening practices. The current study is an examination of the implementation of the first Italian online web-based screening tool (Web Italian Network for Autism Spectrum DisorderWIN4ASD), an innovative web app for pediatricians. We present the data obtained from the screening activity through the platform by a small group of pediatricians. The results of this study show that the implemented web-based platform appears to be an effective, efficient, and sustainable way to integrate screening services into primary care.

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8. Correale C, Borgi M, Cirulli F, Laghi F, Trimarco B, Ferraro M, Venerosi A. The Impact of Health and Social Services on the Quality of Life in Families of Adults with Autism Spectrum Disorder (ASD): A Focus Group Study. Brain sciences. 2022; 12(2).

BACKGROUND: Autism spectrum disorder (ASD) is a complex developmental condition that affects the whole family. The gap between childrens’ needs and their satisfaction, especially regarding what concerns the presence of social and healthcare services, is still a source of burden, particularly after the transition to adulthood. Our study aimed to gather a comprehensive view on how parents of adults with ASD perceive (and interact with) health and social services, and how the provision of care impacts family quality of life with the aim to advise ASD intervention programs. The goal is to identify specific areas of change useful to influence autism intervention strategies so that they more effectively meet the needs of young people with autism and their families. METHODS: We conducted two focus groups with parents of young adults with ASD. A semi-structured focus group methodology was adopted. The QoL conceptual framework guided data collection and analysis as part of a directed theory-driven content analysis approach. RESULTS: The lack of structured care pathways and the low level of integration of different services were the main limits reported by parents during the focus group, while a shared positive perception of the experience conducted together as caring families emerged. CONCLUSIONS: The experience here reported claims for a greater role of the institutions in order to facilitate the building of networks that are really inclusive for persons with autism in society and to support the implementation of innovative solutions for the welfare system. Furthermore, parents stressed the need for the provision of support to the family.

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9. Cregenzán-Royo O, Brun-Gasca C, Fornieles-Deu A. Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review. Genes. 2022; 13(2).

Fragile X syndrome (FXS) causes intellectual disability and is the known leading cause of autism. Common problems in FXS include behavior and social problems. Along with syndromic characteristics and autism comorbidity, environmental factors might influence these difficulties. This systematic review focuses on the last 20 years of studies concerning behavior and social problems in FXS, considering environmental and personal variables that might influence both problems. Three databases were reviewed, leading to fifty-one studies meeting the inclusion criteria. Attention deficit hyperactivity disorder (ADHD) problems remain the greatest behavior problems, with behavioral problems and social competence being stable during the 20 years. Some developmental trajectories might have changed due to higher methodological control, such as aggressive behavior and attention problems. The socialization trajectory from childhood to adolescence remains unclear. Comorbidity with autism in individuals with FXS increased behavior problems and worsened social competence profiles. At the same time, comparisons between individuals with comorbid FXS and autism and individuals with autism might help define the comorbid phenotype. Environmental factors and parental characteristics influenced behavior problems and social competence. Higher methodological control is needed in studies including autism symptomatology and parental characteristics. More studies comparing autism in FXS with idiopathic autism are needed to discern differences between conditions.

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10. da Costa GE, Fernandes GL, Rodrigues JCG, da VBLDF, Pastana LF, Pereira EEB, Assumpção PP, Burbano RMR, Dos Santos SEB, Guerreiro JF, Fernandes MR, Dos Santos NPC. Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes. 2022; 13(2).

Autism spectrum disorder is a neurodevelopmental disorder, affecting one in 160 children worldwide. The causes of autism are still poorly understood, but research shows the relevance of genetic factors in its pathophysiology, including the CHD8, SCN2A, FOXP1 and SYNGAP1 genes. Information about the genetic influence on various diseases, including autism, in the Amerindian population from Amazon, is still scarce. We investigated 35 variants of the CHD8, SCN2A, FOXP1, and SYNGAP1 gene in Amazonian Amerindians in comparison with publicly available population frequencies from the 1000 Genomes Project database. Our study identified 16 variants in the Amerindian population of the Amazon with frequencies significantly different from the other populations. Among them, the SCN2A (rs17183814, rs75109281, and rs150453735), FOXP1 (rs56850311 and rs939845), and SYNGAP1 (rs9394145 and rs115441992) variants presented higher frequency than all other populations analyzed. In addition, nine variants were found with lower frequency among the Amerindians: CHD8 (rs35057134 and rs10467770), SCN2A (rs3769951, rs2304014, rs1838846, and rs7593568), FOXP1 (rs112773801 and rs56850311), and SYNGAP1 (rs453590). These data show the unique genetic profile of the indigenous population of the Brazilian Amazon. Knowledge of these variants can help to understand the pathophysiology and diagnosis of autism among Amerindians, Brazilians, and in admixed populations that have contributions from this ethnic group.

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11. DeRosa BA, Hokayem JE, Artimovich E, Garcia-Serje C, Phillips AW, Van Booven D, Nestor JE, Wang L, Cuccaro ML, Vance JM, Pericak-Vance MA, Cukier HN, Nestor MW, Dykxhoorn DM. Author Correction: Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons. Scientific reports. 2022; 12(1): 3445.

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12. Deutsch SI, Luyo ZNM, Burket JA. Targeted NMDA Receptor Interventions for Autism: Developmentally Determined Expression of GluN2B and GluN2A-Containing Receptors and Balanced Allosteric Modulatory Approaches. Biomolecules. 2022; 12(2).

Various ASD risk alleles have been associated with impairment of NMDA receptor activation (i.e., NMDA Receptor Hypofunction) and/or disturbance of the careful balance between activation mediated by GluN2B-subtype and GluN2A-subtype-containing NMDA receptors. Importantly, although these various risk alleles affect NMDA receptor activation through different mechanisms, they share the pathogenic consequences of causing disturbance of highly regulated NMDA receptor activation. Disturbances of NMDA receptor activation due to sequence variants, protein termination variants and copy number variants are often cell-specific and regionally selective. Thus, translational therapeutic NMDA receptor agonist interventions, which may require chronic administration, must have specificity, selectivity and facilitate NMDA receptor activation in a manner that is physiologic (i.e., mimicking that of endogenously released glutamate and glycine/D-serine released in response to salient and relevant socio-cognitive provocations within discrete neural circuits). Importantly, knockout mice with absent expression and mice with haploinsufficient expression of the deleterious genes often serve as good models to test the potential efficacy of promising pharmacotherapeutic strategies. The Review considers diverse examples of « illness » genes, their pathogenic effects on NMDA receptor activation and, when available, results of studies of impaired sociability in mouse models, including « proof of principle/proof of concept » experiments exploring NMDA receptor agonist interventions and the development of promising positive allosteric modulators (PAMs), which serve as support and models for developing an inventory of PAMs and negative allosteric modulators (NAMs) for translational therapeutic intervention. Conceivably, selective PAMs and NAMs either alone or in combination will be administered to patients guided by their genotype in order to potentiate and/or restore disrupted balance between activation mediated by GluN2B-subtype and GluN2A-subtype containing NMDA receptors.

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13. Edelson SM. Evidence from Characteristics and Comorbidities Suggesting That Asperger Syndrome Is a Subtype of Autism Spectrum Disorder. Genes. 2022; 13(2).

The current version of the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM-V) does not consider Asperger syndrome a diagnostic category. This study was undertaken to see if there is evidence that this diagnosis should be reinstated. An online survey was conducted to examine symptoms and behaviors associated with the current diagnostic criteria of autism spectrum disorders (ASD) (DSM-V), and those associated with Asperger syndrome based on the previous version (DSM-IV-TR). The study also examined other characteristics historically associated with autism, as well as impairments often reported in infancy/young childhood and medical comorbidities frequently associated with autism. The sample included 251 individuals who had received a diagnosis of Asperger syndrome and 1888 who were diagnosed with autism or ASD. Numerous similarities and differences were found between the two groups. The findings are discussed in relation to reestablishing Asperger syndrome as a valid diagnostic category as well as a subtype of ASD.

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14. Esler AN, Sample J, Hall-Lande J, Harris B, Rice C, Poynter J, Kirby RS, Wiggins L. Patterns of Special Education Eligibility and Age of First Autism Spectrum Disorder (ASD) Identification Among US Children with ASD. Journal of autism and developmental disorders. 2022.

The study examined timing of autism spectrum disorder (ASD) identification in education versus health settings for 8-year-old children with ASD identified through records-based surveillance. The study also examined type of ASD symptoms noted within special education evaluations. Results indicated that children with records from only education sources had a median time to identification of ASD over a year later than children with records from health sources. Black children were more likely than White children to have records from only education sources. Restricted and repetitive behaviors were less frequently documented in educational evaluations resulting in developmental delay eligibility compared to specific ASD eligibility among children with ASD. Future research could explore strategies reduce age of identification in educational settings and increase equitable access to health evaluations.

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15. Fenning RM, Butter EM, Macklin EA, Norris M, Hammersmith KJ, McKinnon-Bermingham K, Chan J, Stephenson KG, Albright C, Scherr J, Moffitt JM, Lu F, Spaulding R, Guijon J, Hess A, Coury DL, Kuhlthau KA, Steinberg-Epstein R. Parent Training for Dental Care in Underserved Children With Autism: A Randomized Controlled Trial. Pediatrics. 2022; 149(5).

OBJECTIVE: Children with autism spectrum disorder (ASD) have difficulty participating in dental care and experience significant unmet dental needs. We examined the efficacy of parent training (PT) for improving oral hygiene and oral health in underserved children with ASD. METHOD: Families of Medicaid-eligible children with ASD (ages 3-13 years, 85% boys, 62% with intellectual disability) reporting difficulty with dental care participated in a 6-month randomized controlled trial comparing PT (n = 60) with a psychoeducational dental toolkit (n = 59). Primary outcomes were parent-reported frequency of twice-daily toothbrushing and dentist-rated visible plaque. Secondary outcomes included parent-reported child behavior problems during home oral hygiene and dentist-rated caries. Dentists were blind to intervention assignment. Analyses were intention to treat. RESULTS: Retention was high at posttreatment (3 months, 93%) and 6-month follow-up (90%). Compared with the toolkit intervention, PT was associated with increased twice-daily toothbrushing at 3 (78% vs 55%, respectively; P < .001) and 6 (78% vs 62%; P = .002) months and a reduction in plaque at 3 months (intervention effect, -0.19; 95% confidence interval [CI], -0.36 to -0.02; P = .03) and child problem behaviors at 3 (-0.90; 95% CI, -1.52 to -0.28; P = .005) and 6 (-0.77; 95% CI, -1.39 to -0.14; P = .02) months. Comparatively fewer caries developed in children receiving the PT intervention over 3 months (ratio of rate ratios, 0.73; 95% CI, 0.54 to 0.99; P = .04). CONCLUSIONS: PT represents a promising approach for improving oral hygiene and oral health in underserved children with ASD at risk for dental problems.

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16. Freedman DA, Terry D, Enciso L, Trott K, Burch M, Albert DVF. Brief Report: Psychogenic Nonepileptic Events in Pediatric Patients with Autism or Intellectual Disability. Journal of autism and developmental disorders. 2022.

This is a retrospective case series of pediatric patients referred to the psychogenic nonepileptic events clinic (PNEE) who had comorbid diagnoses of autism spectrum disorder (ASD) or intellectual disability (ID). We describe 15 patients, nine with ASD and six with ID who had a telephone visit follow-up at 12 months. There were higher rates of male gender (40%) and comorbid epilepsy (53%) compared to the larger PNEE cohort. Eleven patients were available for follow-up and ten patients had improvement in events or were event-free. We report that patients with ASD or ID can develop PNEE and experience improvement from events.

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17. Frolli A, Savarese G, Di Carmine F, Bosco A, Saviano E, Rega A, Carotenuto M, Ricci MC. Children on the Autism Spectrum and the Use of Virtual Reality for Supporting Social Skills. Children (Basel, Switzerland). 2022; 9(2).

BACKGROUND: Autism spectrum disorders (ASDs) are characterized by differences in socio-pragmatic communication. These conditions are allocated within a « spectrum » of phenotypic variability. Virtual reality (VR) is a useful tool for healthcare intervention and particularly safely advancing social abilities in children with ASD. METHODS: In our study two types of intervention for improving social skills were compared: (i) emotional training obtained by the use of virtual reality (Gr1), (ii) traditional emotional training performed individually with a therapist (Gr2). We aimed to identify the intervention with the shortest acquisition time for the proposed social tasks. RESULTS: Our findings show that both types of intervention had the same acquisition time for the recognition of primary emotions. However, for the use of primary and secondary emotions, the group using VR showed shorter acquisition times. CONCLUSIONS: These findings together with previous preliminary datasuggest that VR can be a promising, dynamic and effective practice for the support of basic and complex social skills of these individuals.

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18. Frye RE, Rose S, Boles RG, Rossignol DA. A Personalized Approach to Evaluating and Treating Autism Spectrum Disorder. Journal of personalized medicine. 2022; 12(2).

The most recent Center for Disease Control and Prevention estimates suggest that 1 in every 44 children (>2%) in the United States (US) is affected by autism spectrum disorder (ASD) […].

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19. Fu L, Li C, Li Y, Cheng X, Cui X, Jiang J, Ding N, Fang H, Tang T, Ke X. Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 628-40.

Although the limbic system is closely related to emotion and social behaviors, little is known about the integrity of limbic pathways and how genetics influence the anatomical abnormalities of limbic networks in children with autism spectrum disorder (ASD). Therefore, we used an ASD twin study design to evaluate the microstructural integrity and autism-related differences in limbic pathways of young children with ASD and to estimate the heritability of limbic tracts microstructure variance. We obtained diffusion tensor imaging scans from 33 pairs of twins with ASD aged 2-9 years and 20 age-matched typically developing children. The ACE model was used to estimate the relative effects of additive genetic factors (A), shared environmental factors (C) and specific environmental factors (E) on the variability of diffusivity measurements. We found a significant decrease in fractional anisotropy (FA) in the bilateral fornix and uncinate fasciculus (UF), as well as increased mean diffusivity (MD) and radial diffusivity (RD) in the bilateral fornix and right UF of ASD children. Correlation analysis showed that FA, MD, and lateralization indices of UF were correlated with autism diagnostic observation schedule scores. The ACE model revealed that genetic effects may drive some of the variability of microstructure in the bilateral fornix, cingulum, and left UF. In conclusion, in children with ASD, there are abnormalities in the white matter microstructure of the limbic system, which is related to the core symptoms; these abnormalities may be related to the relative contribution of genetic and environmental effects on specific tracts. LAY SUMMARY: Autism spectrum disorder (ASD) children have abnormal white matter structure in limbic system related to ASD symptoms, and genetic factors play an important role in the development of limbic tracts.

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20. Fujitani M, Miyajima H, Otani Y, Liu X. Maternal and Adult Interleukin-17A Exposure and Autism Spectrum Disorder. Frontiers in psychiatry. 2022; 13: 836181.

Epidemiological evidence in humans has suggested that maternal infections and maternal autoimmune diseases are involved in the pathogenesis of autism spectrum disorder. Animal studies supporting human results have shown that maternal immune activation causes brain and behavioral alterations in offspring. Several underlying mechanisms, including interleukin-17A imbalance, have been identified. Apart from the pro-inflammatory effects of interleukin-17A, there is also evidence to support the idea that it activates neuronal function and defines cognitive behavior. In this review, we examined the signaling pathways in both immunological and neurological contexts that may contribute to the improvement of autism spectrum disorder symptoms associated with maternal blocking of interleukin-17A and adult exposure to interleukin-17A. We first describe the epidemiology of maternal immune activation then focus on molecular signaling of the interleukin-17 family regarding its physiological and pathological roles in the embryonic and adult brain. In the future, it may be possible to use interleukin-17 antibodies to prevent autism spectrum disorder.

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21. Gerges P, Bitar T, Laumonnier F, Marouillat S, Nemer G, Andres CR, Hleihel W. Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing. Genes. 2022; 13(2).

In our previous study, in which array CGH was used on 19 Lebanese ASD subjects and their parents, we identified rare copy number variants (CNVs) in 14 subjects. The five remaining subjects did not show any CNVs related to autism spectrum disorders (ASD). In the present complementary study, we applied whole-exome sequencing (WES), which allows the identification of rare genetic variations such as single nucleotide variations and small insertions/deletions, to the five negative CNV subjects. After stringent filtering of initial data on the five families, three novel genes potentially related to neurodevelopment were identified, including a de novo mutation in the MIS18BP1 gene. In addition, genes already known to be related to ASD contained sequence variations. Our findings outline the potential involvement of the novel de novo mutation in the MIS18BP1 gene in the genetic etiology and pathophysiology of ASD and highlights the genetic complexity of these disorders. Further studies with larger cohorts of subjects are needed to confirm these observations, and functional analyses need to be performed to understand the precise pathophysiology in these cases.

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22. Glans MR, Thelin N, Humble MB, Elwin M, Bejerot S. The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison. Frontiers in psychiatry. 2021; 12: 803334.

Autism spectrum disorder (ASD) and generalised joint hypermobility (GJH) share a number of clinical manifestations including proprioceptive impairment, motor difficulties, sensory hypersensitivity, and autonomic dysfunction. Clinical observations suggest that GJH is overrepresented in ASD. However, there are currently few systematic studies available. Knowledge about comorbidities may unfold common aetiopathological pathways underlying the association and improve the clinical management. The aim of this large, cross-sectional comparative study is to evaluate the relationship between ASD and GJH in adults. Data on joint hypermobility, symptoms associated with both hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS), lifetime psychiatric diagnoses, psychiatric rating scales for ASD and attention deficit hyperactivity disorder (ADHD), and socio-demographics was collected for 199 individuals with ASD and 419 non-ASD community controls. Logistic regression models adjusting for covariates (age, sex, ethnicity) revealed a significant relationship between ASD and GJH and between ASD and symptomatic GJH, with adjusted odds ratios of 3.1 (95% CI: 1.9, 5.2; p < 0.001) and 4.9 (95% CI: 2.6, 9.0; p < 0.001), respectively. However, the high prevalence of comorbid ADHD in the study sample reduces the generalizability of the results among individuals with ASD without comorbid ADHD. Possibly, an additional ADHD phenotype is the primary driver of the association between ASD and GJH. Furthermore, GJH with additional self-reported symptoms, suggestive of HSD/hEDS, showed a stronger association with ASD than did non-specified GJH, indicating that symptomatic GJH plays a greater role in the relationship than non-specified GJH does. Therefore, the current study underscores the need of careful sample subclassifications. ASD with GJH may represent a novel subgroup of ASD in terms of aetiopathology and clinical presentation. Future research should elucidate the aetiological factors behind the association between ASD and GJH and evaluate how the comorbidity of GJH affects ASD outcomes.

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23. Huang CF, Lin YS, Chiu YN, Gau SS, Chen VC, Lin CF, Hsieh YH, Liu WS, Chan HL, Wu YY. Validation of the Chinese Version of the Autism Diagnostic Interview-Revised in Autism Spectrum Disorder. Neuropsychiatric disease and treatment. 2022; 18: 327-39.

BACKGROUND: The Autism Diagnostic Interview-Revised (ADI-R) is an essential semi-structured diagnostic tool for autism spectrum disorder (ASD). This study aims to validate the Chinese version of the ADI-R in Taiwan. METHODS: The Chinese version of the ADI-R was translated and back-translated by professional translators and was approved by the original authors. A group of child psychiatrists and psychologists corrected medical terminology for the final version. Then, a total of 74 participants with ASD (male, 59, 79.73%) and 33 control participants without ASD (male, 16, 48.48%) were recruited. All participants were between 3 years 4 months to 41 years old (mean: 14.63 ± 7.93 years). Exploratory factor analysis (EFA) was used to measure the factor structure. RESULTS: Cronbach’s α showed good to excellent internal consistency (0.78-0.98) over the three core symptom domains of the Chinese version of the ADI-R. Pearson’s correlation analysis revealed very high test-retest reliability (Pearson’s correlation coefficients ranging from 0.95 to 0.99). EFA supported three categories of factors. For correct diagnosis of ASD, the Chinese version of the ADI-R had high sensitivity (97.30%), specificity (100%), positive predictive value (PPV) (100%), and negative predictive value (NPV) (94.29%). All domains also showed excellent area under the curves (0.991-1), sensitivity (94.59-98.65%), specificity (96.97-100%), Youden index (94.59-98.65%), PPV (97.78-100%), NPV (89.19-100%), positive likelihood ratio (32.55-33.00%) and negative likelihood ratio (0.00-0.05) after statistical examination. CONCLUSION: The Chinese version of the ADI-R is a reliable and valid diagnostic tool for the diagnosis of ASD in Clinical settings in Taiwan.

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24. Hughes HK, Onore CE, Careaga M, Rogers SJ, Ashwood P. Increased Monocyte Production of IL-6 after Toll-like Receptor Activation in Children with Autism Spectrum Disorder (ASD) Is Associated with Repetitive and Restricted Behaviors. Brain sciences. 2022; 12(2).

The prevalence of autism spectrum disorder (ASD) has starkly increased, instigating research into risk factors for ASD. This research has identified immune risk factors for ASD, along with evidence of immune dysfunction and excess inflammation frequently experienced by autistic individuals. Increased innate inflammatory cytokines, including interleukin (IL)-6, are seen repeatedly in ASD; however, the origin of excess IL-6 in ASD has not been identified. Here we explore specific responses of circulating monocytes from autistic children. We isolated CD14(+) monocytes from whole blood and stimulated them for 24 h under three conditions: media alone, lipoteichoic acid to activate TLR2, and lipopolysaccharide to activate TLR4. We then measured secreted cytokine concentrations in cellular supernatant using a human multiplex bead immunoassay. We found that after TLR4 activation, CD14(+) monocytes from autistic children produce increased IL-6 compared to monocytes from children with typical development. IL-6 concentration also correlated with worsening restrictive and repetitive behaviors. These findings suggest dysfunctional activation of myeloid cells, and may indicate that other cells of this lineage, including macrophages, and microglia in the brain, might have a similar dysfunction. Further research on myeloid cells in ASD is warranted.

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25. Ibrahimagic A, Patkovic N, Radic B, Hadzic S. Communication and Language Skills of Autistic Spectrum Disorders in Children and Their Parents’ Emotions. Materia socio-medica. 2021; 33(4): 250-6.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disability, which is a biologically based neurodevelopmental disorder that affects a child’s social interaction and communication skills. Core deficits are identified in two domains: social communication/interaction and restrictive, repetitive patterns of behavior. Children and youth with ASD have service needs in behavioral, educational, health, leisure, family support, and other areas. Autism is a set of heterogeneous neurodevelopmental conditions, characterized by inability to acquire social skills, repetitive behaviors and failure of speech and nonverbal communication development. OBJECTIVE: To examine frequency, correlation and predictivity of communication and language skills of autistic spectrum disorders (ASD) children and their parents’ emotions. METHODS: The sample consisted of 80 participants who are parents of children with ASD. The study was performed using a questionnaire made out for this research. Three groups of variables were analyzed: parental emotions variables; child’s communication variables, child’s language variables. Statistical analysis was performed by SPSS, and included basic statistical parameters and multiple regression analysis. RESULTS: The most common ways of communicate for children with ASD are: Allowing to cuddle; Recognizes familiar faces; and Makes it known when he needs help or wants an item. The most common language forms of children ASD are: Following simple instructions; Understanding connected words/phrases; Pronouncing single words; and Looking at when called by name. Parents of children with ASD expressed the greatest agreement with the following statements: « My child is more demanding than most other children »; « It seems to me that my child is very sensitive and easily upset »; « My child can’t do much of what he’s expected to know to do », and « I often lack energy. » CONCLUSION: Parents of children with ASD proved that their children have significant delays in communication and language. Developed communication and language skills of the child with ASD are valid predictors of parents’ emotions/attitudes. Speech and language therapy work focused on developing the ASD child’s communication and language skills can be expected to improve parents’ emotions/attitudes.

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26. Ivanov YD, Malsagova KA, Goldaeva KV, Pleshakova TO, Shumov ID, Galiullin RA, Kapustina SI, Iourov IY, Vorsanova SG, Ryabtsev SV, Popov VP, Archakov AI. « Silicon-On-Insulator »-Based Nanosensor for the Revelation of MicroRNA Markers of Autism. Genes. 2022; 13(2).

MicroRNAs (miRNAs), which represent short (20 to 22 nt) non-coding RNAs, were found to play a direct role in the development of autism in children. Herein, a highly sensitive « silicon-on-insulator »-based nanosensor (SOI-NS) has been developed for the revelation of autism-associated miRNAs. This SOI-NS comprises an array of nanowire sensor structures fabricated by complementary metal-oxide-semiconductor (CMOS)-compatible technology, gas-phase etching, and nanolithography. In our experiments described herein, we demonstrate the revelation of ASD-associated miRNAs in human plasma with the SOI-NS, whose sensor elements were sensitized with oligonucleotide probes. In order to determine the concentration sensitivity of the SOI-NS, experiments on the detection of synthetic DNA analogues of autism-associated miRNAs in purified buffer were performed. The lower limit of miRNA detection attained in our experiments amounted to 10(-17) M.

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27. Jhuo RA, Chu SY. A Review of Parent-Implemented Early Start Denver Model for Children with Autism Spectrum Disorder. Children (Basel, Switzerland). 2022; 9(2).

The purpose of this review is to provide an overview of findings from selected research published between 2012 and 2022 in English-language peer-reviewed journals to evaluate the effectiveness of the parent-implemented Early Start Denver Model (P-ESDM). Thirteen studies used quantitative methods to examine the relationship between variables. We considered four categories of variables in the analysis: child characteristics, intervention intensity and duration, child outcome measures, and parent-related outcome measures and parental fidelity. The findings revealed positive child-parent-related outcomes. In addition, the quality of implementation, relating to parent fidelity, should be considered when evaluating the efficacy of the intervention. However, only half the studies revealed that the standard benchmark for acceptable fidelity was being achieved. Implications for future research and practice are discussed.

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28. Ji Y, Chen R, Wang Q, Wei Q, Tao R, Li B. Leveraging Gene-Level Prediction as Informative Covariate in Hypothesis Weighting Improves Power for Rare Variant Association Studies. Genes. 2022; 13(2).

Gene-based rare variant association studies (RVASs) have low power due to the infrequency of rare variants and the large multiple testing burden. To correct for multiple testing, traditional false discovery rate (FDR) procedures which depend solely on P-values are often used. Recently, Independent Hypothesis Weighting (IHW) was developed to improve the detection power while maintaining FDR control by leveraging prior information for each hypothesis. Here, we present a framework to increase power of gene-based RVASs by incorporating prior information using IHW. We first build supervised machine learning models to assign each gene a prediction score that measures its disease risk, using the input of multiple biological features, fed with high-confidence risk genes and local background genes selected near GWAS significant loci as the training set. Then we use the prediction scores as covariates to prioritize RVAS results via IHW. We demonstrate the effectiveness of this framework through applications to RVASs in schizophrenia and autism spectrum disorder. We found sizeable improvements in the number of significant associations compared to traditional FDR approaches, and independent evidence supporting the relevance of the genes identified by our framework but not traditional FDR, demonstrating the potential of our framework to improve power of gene-based RVASs.

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29. Joachimiak P, Ciesiołka A, Figura G, Fiszer A. Implications of Poly(A) Tail Processing in Repeat Expansion Diseases. Cells. 2022; 11(4).

Repeat expansion diseases are a group of more than 40 disorders that affect mainly the nervous and/or muscular system and include myotonic dystrophies, Huntington’s disease, and fragile X syndrome. The mutation-driven expanded repeat tract occurs in specific genes and is composed of tri- to dodeca-nucleotide-long units. Mutant mRNA is a pathogenic factor or important contributor to the disease and has great potential as a therapeutic target. Although repeat expansion diseases are quite well known, there are limited studies concerning polyadenylation events for implicated transcripts that could have profound effects on transcript stability, localization, and translation efficiency. In this review, we briefly present polyadenylation and alternative polyadenylation (APA) mechanisms and discuss their role in the pathogenesis of selected diseases. We also discuss several methods for poly(A) tail measurement (both transcript-specific and transcriptome-wide analyses) and APA site identification-the further development and use of which may contribute to a better understanding of the correlation between APA events and repeat expansion diseases. Finally, we point out some future perspectives on the research into repeat expansion diseases, as well as APA studies.

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30. Kanhirakadavath MR, Chandran MSM. Investigation of Eye-Tracking Scan Path as a Biomarker for Autism Screening Using Machine Learning Algorithms. Diagnostics (Basel, Switzerland). 2022; 12(2).

Autism spectrum disorder is a group of disorders marked by difficulties with social skills, repetitive activities, speech, and nonverbal communication. Deficits in paying attention to, and processing, social stimuli are common for children with autism spectrum disorders. It is uncertain whether eye-tracking technologies can assist in establishing an early biomarker of autism based on the children’s atypical visual preference patterns. In this study, we used machine learning methods to test the applicability of eye-tracking data in children to aid in the early screening of autism. We looked into the effectiveness of various machine learning techniques to discover the best model for predicting autism using visualized eye-tracking scan path images. We adopted three traditional machine learning models and a deep neural network classifier to run experimental trials. This study employed a publicly available dataset of 547 graphical eye-tracking scan paths from 328 typically developing and 219 autistic children. We used image augmentation to populate the dataset to prevent the model from overfitting. The deep neural network model outperformed typical machine learning approaches on the populated dataset, with 97% AUC, 93.28% sensitivity, 91.38% specificity, 94.46% NPV, and 90.06% PPV (fivefold cross-validated). The findings strongly suggest that eye-tracking data help clinicians for a quick and reliable autism screening.

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31. Kato S, Hanawa K, Linh VP, Saito M, Iimura R, Inui K, Nakamura K. Toward mapping pragmatic impairment of autism spectrum disorder individuals through the development of a corpus of spoken Japanese. PloS one. 2022; 17(2): e0264204.

The central symptom of autism spectrum disorder (ASD) is deficiency in social communication, which is generally viewed as being caused by pragmatic impairment (PI). PI is difficulty in using language appropriately in social situations. Studies have confirmed that PI is the result of neurological, cognitive, linguistic, and sensorimotor dysfunctions involving intricately intertwined factors. To elucidate the whole picture of this impairment, an approach from a multifaceted perspective fusing those factors is necessary. To this end, comprehensive PI mapping is a must, since no comprehensive mapping has yet been developed. The aim of this research is to present a model of annotation scheme development and corpus construction to efficiently visualize and quantify for statistical investigation occurrences of PI, which enables comprehensive mapping of PI in the spoken language of Japanese ASD individuals. We constructed system networks (lexicogrammatical option systems speakers make choices from) in the theoretical framework of Systemic Functional Linguistics, from which we developed an annotation scheme to comprehensively cover PI. Since system network covers all possible lexicogrammatical choices in linguistic interaction, it enables a comprehensive view of where and in what lexicogrammar PI occurs. Based on this annotation scheme, we successfully developed the Corpus of ASD + Typically Developed Spoken Language consisting of texts from 1,187 audiotaped tasks performed by 186 ASD and 106 typically developed subjects, accommodating approximately 1.07 million morphemes. Moreover, we were successful in the automatization of the annotation process by machine learning, accomplishing a 90 percent precision rate. We exemplified the mapping procedure with a focus on the spoken use of negotiating particles. Our model corpus is applicable to any language by incorporating our method of constructing the annotation scheme, and would give impetus to defining PI from a cross-linguistic point of view, which is needed because PI of ASD reflects cross-linguistic differences.

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32. László K, Kiss O, Vörös D, Mintál K, Ollmann T, Péczely L, Kovács A, Zagoracz O, Kertes E, Kállai V, László B, Hormay E, Berta B, Tóth A, Karádi Z, Lénárd L. Intraamygdaloid Oxytocin Reduces Anxiety in the Valproate-Induced Autism Rat Model. Biomedicines. 2022; 10(2).

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder affecting about 1.5% of children, and its prevalence is increasing. Anxiety is one of the most common comorbid signs of ASD. Despite the increasing prevalence, the pathophysiology of ASD is still poorly understood, and its proper treatment has not been defined yet. In order to develop new therapeutic approaches, the valproate- (VPA) induced rodent model of autism can be an appropriate tool. Oxytocin (OT), as a prosocial hormone, may ameliorate some symptoms of ASD. METHODS: In the present study, we investigated the possible anxiolytic effect of intraamygdaloid OT on VPA-treated rats using the elevated plus maze test. RESULTS: Our results show that male Wistar rats prenatally exposed to VPA spent significantly less time in the open arms of the elevated plus maze apparatus and performed significantly less head dips from the open arms. Bilateral OT microinjection into the central nucleus of the amygdala increased the time spent in the open arms and the number of head dips and reduced the anxiety to the healthy control level. An OT receptor antagonist blocked the anxiolytic effects of OT. The antagonist by itself did not influence the time rats spent in the open arms. CONCLUSIONS: Our results show that intraamygdaloid OT has anxiolytic effects in autistic rats.

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33. Li M, Zhao SX, Chen WJ, Huang TY, Chen LS. Knowledge and Attitudes toward Genetic Testing for Autism Spectrum Disorders among Parents of Affected Children in Taiwan. Genes. 2022; 13(2).

The prevalence of autism spectrum disorders (ASD) in Taiwan has been increasing, and genetic testing for ASD has been available and provided to parents of children diagnosed with ASD in Taiwan. However, there is still limited understanding of Taiwanese parents’ knowledge of and attitudes toward such testing. Therefore, the present study addressed this gap by assessing the attitudes toward as well as actual and perceived knowledge of ASD genetic testing among Taiwanese parents of children diagnosed with ASD. A sample of 443 parents of children with ASD recruited from 236 public schools in Taiwan completed a paper-and-pencil survey. Although parents generally held favorable attitudes toward ASD genetic testing, they had deficient knowledge of such test (with only a 31.4% average correct rate on the actual knowledge scale). Tailored health education materials should be developed to improve the knowledge of ASD genetic testing among parents with affected children in Taiwan.

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34. Li Z, Xiao GY, He CY, Liu X, Fan X, Zhao Y, Wang NR. Serum levels of insulin-like growth factor-1 and insulin-like growth factor binding protein-3 in children with autism spectrum disorder. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2022; 24(2): 186-91.

OBJECTIVES: To study the serum levels of insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) in children with autism spectrum disorder (ASD) and their association with the core symptoms of ASD. METHODS: A total of 150 ASD children aged 2-7 years (ASD group) and 165 healthy children matched for age and sex (control group) who were recruited at the outpatient service of Chongqing Health Center for Women and Children were enrolled as subjects. Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) were used to evaluate the core symptoms of the ASD children. Chemiluminescence was used to measure the serum levels of IGF-1 and IGFBP-3 in both groups. RESULTS: The ASD group had a significantly lower serum level of IGF-1 than the control group (P<0.05). The children with severe ASD had significantly lower serum levels of IGF-1 and IGFBP-3 than those with mild-to-moderate ASD (P<0.001). For the children aged 2-3 years, the ASD group had a significantly lower serum level of IGF-1 than the control group (P<0.05). Boys had a significantly lower serum level of IGF-1 than girls in both ASD and control groups (P<0.05). The serum levels of IGF-1 and IGFBP-3 were negatively correlated with the total score of CARS (r=-0.32 and -0.40 respectively, P<0.001). CONCLUSIONS: The reduction in serum IGF-1 level in early childhood may be associated with the development of ASD, and the serum levels of IGF-1 and IGFBP-3 are associated with the core symptoms of ASD children. eng.

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35. Lin P, Zang S, Bai Y, Wang H. Reconfiguration of Brain Network Dynamics in Autism Spectrum Disorder Based on Hidden Markov Model. Frontiers in human neuroscience. 2022; 16: 774921.

Autism spectrum disorder (ASD) is a group of complex neurodevelopment disorders characterized by altered brain connectivity. However, the majority of neuroimaging studies for ASD focus on the static pattern of brain function and largely neglect brain activity dynamics, which might provide deeper insight into the underlying mechanism of brain functions for ASD. Therefore, we proposed a framework with Hidden Markov Model (HMM) analysis for resting-state functional MRI (fMRI) from a large multicenter dataset of 507 male subjects. Specifically, the 507 subjects included 209 subjects with ASD and 298 well-matched health controls across 14 sites from the Autism Brain Imaging Data Exchange (ABIDE). Based on the HMM, we can identify the recurring brain function networks over time across ASD and healthy controls (HCs). Then we assessed the dynamical configuration of the whole-brain networks and further analyzed the community structure of transitions across the brain states. Based on the 19 HMM states, we found that the global temporal statistics of the specific HMM states (including fractional occupancies and lifetimes) were significantly altered in ASD compared to HCs. These specific HMM states were characterized by the activation pattern of default mode network (DMN), sensory processing networks [including visual network, auditory network, and sensory and motor network (SMN)]. Meanwhile, we also find that the specific modules of transitions between states were closely related to ASD. Our findings indicate the temporal reconfiguration of the brain network in ASD and provide novel insights into the dynamics of the whole-brain networks for ASD.

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36. Massadeh S, Alhabshan F, AlSudairi HN, Alkwai S, Alsuwailm M, Kabbani MS, Chaikhouni F, Alaamery M. The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome. Genes. 2022; 13(2).

Frank-Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C>G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS.

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37. Matsumura N, Fujino H, Yamamoto T, Tanida Y, Ishii A, Tatsumi A, Nakanishi M, Tachibana M, Mohri I, Okuno H. Effectiveness of a Parent Training Programme for Parents of Adolescents with Autism Spectrum Disorders: Aiming to Improve Daily Living Skills. International journal of environmental research and public health. 2022; 19(4).

Parent training (PT) has been well established in younger children with autism spectrum disorder (ASD) but is less well studied in adolescents. This study examined the effects of attempting PT to enhance the daily living skills (DLSs) of adolescents with ASD. Twenty-five parents of adolescents with ASD participated in either the immediate- or delayed-treatment control condition. Children’s DLSs were evaluated using the DLS domain of the Vineland Adaptive Behaviour Scales-II, and the achievement of the DLSs practised by the children at home was the subject of the evaluation. The DLS domain score showed no improvement in the treatment group compared to the control group. However, some parents in the treatment group reported that their children acquired the target DLSs and more sophisticated communication behaviours. In addition, one measure suggested that parents increased their praising behaviours. These changes may have been driven by the completion of the parent training. We discuss several aspects of developing parent-mediated interventions based on the current intervention situation and observed changes.

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38. Mattis J, Somarowthu A, Goff KM, Jiang E, Yom J, Sotuyo N, McGarry LM, Feng H, Kaneko K, Goldberg EM. Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome. eLife. 2022; 11.

Dravet syndrome (DS) is a neurodevelopmental disorder due to pathogenic variants in SCN1A encoding the Nav1.1 sodium channel subunit, characterized by treatment-resistant epilepsy, temperature-sensitive seizures, developmental delay/intellectual disability with features of autism spectrum disorder, and increased risk of sudden death. Convergent data suggest hippocampal dentate gyrus (DG) pathology in DS (Scn1a(+/-)) mice. We performed two-photon calcium imaging in brain slice to uncover a profound dysfunction of filtering of perforant path input by DG in young adult Scn1a(+/-) mice. This was not due to dysfunction of DG parvalbumin inhibitory interneurons (PV-INs), which were only mildly impaired at this timepoint; however, we identified enhanced excitatory input to granule cells, suggesting that circuit dysfunction is due to excessive excitation rather than impaired inhibition. We confirmed that both optogenetic stimulation of entorhinal cortex and selective chemogenetic inhibition of DG PV-INs lowered seizure threshold in vivo in young adult Scn1a(+/-) mice. Optogenetic activation of PV-INs, on the other hand, normalized evoked responses in granule cells in vitro. These results establish the corticohippocampal circuit as a key locus of pathology in Scn1a(+/-) mice and suggest that PV-INs retain powerful inhibitory function and may be harnessed as a potential therapeutic approach toward seizure modulation.

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39. McCrossin R. Finding the True Number of Females with Autistic Spectrum Disorder by Estimating the Biases in Initial Recognition and Clinical Diagnosis. Children (Basel, Switzerland). 2022; 9(2).

The proportion of females whose ASD diagnosis is missed is unknown. The ratio of males to females with ASD is generally quoted as 4:1, though it is believed that there are biases preventing females from being diagnosed and that the true ratio is lower. These biases have not been clearly identified or quantified. Starting with a clinical dataset of 1711 children <18 years old, four different methods were employed in an inductive study to identify and quantify the biases and calculate the proportion of females missed. A mathematical model was constructed to compare the findings with current published data. The true male-to-female ratio appears to be 3:4. Eighty percent of females remain undiagnosed at age 18, which has serious consequences for the mental health of young women.

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40. Nogueira M, Melo C, Grangeia A, Magalhães T, Soares C, Dias R, Fonseca J, Sampaio M, Sousa R. PURA syndrome in a child with severe developmental delay: a challenging diagnosis. Revista de neurologia. 2022; 74(5): 170-3.

INTRODUCTION: PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in PURA gene and characterized by a multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy and movement disorders. CASE REPORT: We report a 9-year-old girl with hypotonia and feeding difficulties with failure to thrive since the neonatal period. At the age of 3 years motor and intellectual delay were evident, she had a wide-based gait, no speech and an exaggerated acoustic startle response. She developed hand-mouthing stereotypies and epilepsy at 6 years old. The 24 hours continuous electroencephalogram monitoring revealed global slow activity and frequent epileptiform activity in left temporal and centrotemporal areas. The brain MRI revealed delayed myelination. At 6 years old the clinical exome sequencing identified a heterozygous pathogenic variant in the PURA gene, c.153delA p.(Leu54CysfsTer24). CONCLUSION: PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.

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41. Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients. Genes. 2022; 13(2).

BACKGROUND: Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy and intellectual disability. Despite the lack of cases described, it appears that POBINDS could manifest with a wide range of phenotypes, possibly related to the different mutations of CSNK2B. METHODS: Our multicentric, retrospective study recruited nine patients with POBINDS, detected using next-generation sequencing panels and whole-exome sequencing. Clinical, laboratory, and neuroimaging data were reported for each patient in order to assess the severity of phenotype, and eventually, a correlation with the type of CSNK2B mutation. RESULTS: We reported nine unrelated patients with heterozygous de novo mutations of the CSNK2B gene. All cases presented epilepsy, and eight patients were associated with a different degree of intellectual disability. Other features detected included endocrinological and vascular abnormalities and dysmorphisms. Genetic analysis revealed six new variants of CSNK2B that have not been reported previously. CONCLUSION: Although it was not possible to assess a genotype-phenotype correlation in our patients, our research further expands the phenotype spectrum of POBINDS patients, identifying new mutations occurring in the CSNK2B gene.

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42. Orsucci D, Lorenzetti L, Baldinotti F, Rossi A, Vitolo E, Gheri FL, Napolitano A, Tintori G, Vista M. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective. Journal of clinical medicine. 2022; 11(4).

Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a « premutation » (55-200 CGG repeats) in the FMR1 gene. FXTAS is one of the more common single-gene forms of late-onset ataxia and tremor that may have a more complex development in women, with atypical presentations. After a brief presentation of the atypical case of an Italian woman with FXTAS, who had several paroxysmal episodes suggestive of acute cerebellar and/or brainstem dysfunction, this article will revise the phenotype of FXTAS in women. Especially in females, FXTAS has a broad spectrum of symptoms, ranging from relatively severe diseases in mid-adulthood to mild cases beginning in later life. Female FXTAS and male FXTAS have a different symptomatic spectrum, and studies on the fragile X premutation should be conducted separately on women or men. Hopefully, a better understanding of the molecular processes involved in the polymorphic features of FXTAS will lead to more specific and effective therapies for this complex disorder.

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43. Pal T, Laloli KJ, Moscrip CA, Olszewski PK, Klockars A. Mild Hypophagia and Associated Changes in Feeding-Related Gene Expression and c-Fos Immunoreactivity in Adult Male Rats with Sodium Valproate-Induced Autism. Genes. 2022; 13(2).

A core yet understudied symptom of autism is aberrant eating behaviour, including extremely narrow food preferences. Autistic individuals often refuse to eat despite hunger unless preferred food is given. We hypothesised that, apart from aberrant preference, underfeeding stems from abnormal hunger processing. Utilising an adult male VPA rat, a model of autism, we examined intake of ‘bland’ chow in animals maintained on this diet continuously, eating this food after fasting and after both food and water deprivation. We assessed body weight in adulthood to determine whether lower feeding led to slower growth. Since food intake is highly regulated by brain processes, we looked into the activation (c-Fos immunoreactivity) of central sites controlling appetite in animals subjected to food deprivation vs. fed ad libitum. Expression of genes involved in food intake in the hypothalamus and brain stem, regions responsible for energy balance, was measured in deprived vs. sated animals. We performed our analyses on VPAs and age-matched healthy controls. We found that VPAs ate less of the ‘bland’ chow when fed ad libitum and after deprivation than controls did. Their body weight increased more slowly than that of controls when maintained on the ‘bland’ food. While hungry controls had lower c-Fos IR in key feeding-related areas than their ad libitum-fed counterparts, in hungry VPAs c-Fos was unchanged or elevated compared to the fed ones. The lack of changes in expression of feeding-related genes upon deprivation in VPAs was in contrast to several transcripts affected by fasting in healthy controls. We conclude that hunger processing is dysregulated in the VPA rat.

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44. Panisi C, Marini M. Dynamic and Systemic Perspective in Autism Spectrum Disorders: A Change of Gaze in Research Opens to A New Landscape of Needs and Solutions. Brain sciences. 2022; 12(2).

The first step for a harmonious bio-psycho-social framework in approaching autism spectrum disorders (ASD) is overcoming the conflict between the biological and the psychosocial perspective. Biological research can provide clues for a correct approach to clinical practice, assuming that it would lead to the conceptualization of a pathogenetic paradigm able to account for epidemiologic and clinical findings. The upward trajectory in ASD prevalence and the systemic involvement of other organs besides the brain suggest that the epigenetic paradigm is the most plausible one. The embryo-fetal period is the crucial window of opportunity for keeping neurodevelopment on the right tracks, suggesting that women’s health in pregnancy should be a priority. Maladaptive molecular pathways beginning in utero, in particular, a vicious circle between the immune response, oxidative stress/mitochondrial dysfunction, and dysbiosis-impact neurodevelopment and brain functioning across the lifespan and are the basis for progressive multisystemic disorders that account for the substantial health loss and the increased mortality in ASD. Therefore, the biological complexity of ASD and its implications for health requires the enhancement of clinical skills on these topics, to achieve an effective multi-disciplinary healthcare model. Well-balanced training courses could be a promising starting point to make a change.

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45. Pérez-Fuster P, Herrera G, Kossyvaki L, Ferrer A. Enhancing Joint Attention Skills in Children on the Autism Spectrum through an Augmented Reality Technology-Mediated Intervention. Children (Basel, Switzerland). 2022; 9(2).

In the present study, the effects of an intervention based on an augmented reality technology called Pictogram Room were examined. The objective of the intervention was to improve the responding to joint attention (RJA) skills of gaze following and pointing in six children on the autism spectrum between 3 and 8 years old. A multiple baseline single-subject experimental design was conducted for 12 weeks in a school setting. Results indicated that all of the participant children improved performance in RJA following the intervention. Improvements were maintained over time and generalised to real-world situations. These findings demonstrate that autistic children can improve their RJA skills with a targeted and engaging intervention based on an accessible augmented reality technology tool.

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46. Piras C, Mussap M, Noto A, De Giacomo A, Cristofori F, Spada M, Fanos V, Atzori L, Francavilla R. Alterations of the Intestinal Permeability are Reflected by Changes in the Urine Metabolome of Young Autistic Children: Preliminary Results. Metabolites. 2022; 12(2).

Several metabolomics-based studies have provided evidence that autistic subjects might share metabolic abnormalities with gut microbiota dysbiosis and alterations in gut mucosal permeability. Our aims were to explore the most relevant metabolic perturbations in a group of autistic children, compared with their healthy siblings, and to investigate whether the increased intestinal permeability may be mirrored by specific metabolic perturbations. We enrolled 13 autistic children and 14 unaffected siblings aged 2-12 years; the evaluation of the intestinal permeability was estimated by the lactulose:mannitol test. The urine metabolome was investigated by proton nuclear magnetic resonance (1H-NMR) spectroscopy. The lactulose:mannitol test unveiled two autistic children with altered intestinal permeability. Nine metabolites significantly discriminated the urine metabolome of autistic children from that of their unaffected siblings; however, in the autistic children with increased permeability, four additional metabolites-namely, fucose, phenylacetylglycine, nicotinurate, and 1-methyl-nicotinamide, strongly discriminated their urine metabolome from that of the remaining autistic children. Our preliminary data suggest the presence of a specific urine metabolic profile associated with the increase in intestinal permeability.

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47. Posar A, Visconti P. Early Motor Signs in Autism Spectrum Disorder. Children (Basel, Switzerland). 2022; 9(2).

A growing number of literature data suggest the presence of early impairments in the motor development of children with autism spectrum disorder, which could be often recognized even before the appearance of the classical social communication deficits of autism. In this narrative review, we aimed at performing an update about the available data on the early motor function in children with autism spectrum disorder. Early motor impairment in these children can manifest itself both as a mere delay of motor development and as the presence of atypicalities of motor function, such as a higher rate and a larger inventory, of stereotyped movements both with and without objects. In the perspective of a timely diagnosis, the presence of early motor signs can be an important clue, especially in an individual considered at high risk for autism. Motor and communication (both verbal and non-verbal) skills are connected and a pathogenetic role of early motor dysfunctions in the development of autism can be hypothesized. From this, derives the importance of an early enabling intervention aimed at improving motor skills, which could also have favorable effects on other aspects of development.

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48. Schieltz KM, O’Brien MJ, Tsami L, Call NA, Lerman DC. Behavioral Assessment and Treatment via Telehealth for Children with Autism: From Local to Global Clinical Applications. International journal of environmental research and public health. 2022; 19(4).

Functional analyses (FA) and functional communication training (FCT) are the most commonly used behavioral assessment and treatment approaches via telehealth for children with autism spectrum disorder (ASD) who display challenging behavior. The FA + FCT telehealth model has been shown to maintain treatment effectiveness (i.e., child behavioral outcomes and parent acceptability), as well as demonstrate treatment efficiency (i.e., cost savings). However, the majority of these studies have been conducted in the United States. Therefore, the purpose of this study was to evaluate the outcomes obtained with the telehealth FA + FCT model that included global applications. Descriptive statistics were used to analyze the results of the 199 participants who enrolled in the telehealth project across all project sites. The results showed that behavioral outcomes and parent acceptability maintained at similar levels to previous studies across all sites. Additionally, very few differences were found across project sites in relation to drop-out rates, visit cancellations, and technology issues. These results demonstrate the effectiveness of the FA + FCT telehealth model for addressing the challenging behavior needs of children with ASD globally and highlight areas in need of additional evaluation (e.g., drop-outs, cancellations) to determine the conditions under which telehealth could be best used.

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49. Shirayama Y, Matsumoto K, Hamatani S, Muneoka K, Okada A, Sato K. Associations among autistic traits, cognitive and affective empathy, and personality traits in adults with autism spectrum disorder and no intellectual disability. Scientific reports. 2022; 12(1): 3125.

Reported empathy deficits in autism spectrum disorder (ASD) could be attributable to other ASD-related features. We evaluated 28 ASD adults with no intellectual disability and 24 age-matched non-ASD control subjects using the Autism-Spectrum Quotient (AQ), Questionnaire of Cognitive and Affective Empathy (QCAE), Interpersonal Reactivity Index (IRI), and NEO Personality Inventory-Revised (NEO). Compared to the controls, ASD participants showed lower scores for perspective taking, online simulation, cognitive empathy, and peripheral responsivity on the QCAE, and lower scores for perspective taking and empathic concern on the IRI. Within the ASD group, the AQ scores showed significant relationships with perspective taking, online simulation and cognitive empathy on the QCAE, and perspective taking on the IRI. The ASD group also showed higher scores for neuroticism and lower scores for extraversion on the NEO compared to the controls. However, there were no relationships between AQ scores and NEO factors within the ASD group. Multiple regression analysis with stepwise linear regression demonstrated that perspective taking score on the QCAE and extraversion score on the NEO were good predictor variables to autistic traits on the AQ. These findings help us to understand empathy and personality traits in ASD adults with no intellectual disability.

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50. Vakilzadeh G, Falcone C, Dufour B, Hong T, Noctor SC, Martínez-Cerdeño V. Decreased Number and Increased Activation State of Astrocytes in Gray and White Matter of the Prefrontal Cortex in Autism. Cerebral cortex (New York, NY : 1991). 2022.

The cerebral cortex presents with alterations in the number of specific cell types in autism spectrum disorder (ASD). Astrocytes have many functions in the brain including a role in higher cognitive functions and in inflammatory brain processes. Therefore, an alteration in number, function, and/or activation state of astrocytes, could be present in ASD. We quantified astrocyte number in the gray and white matter of the prefrontal cortex-BA9, BA46, and BA47-in 15 ASD and 15 age- and sex-matched control cases. We labeled astrocytes with antibodies against the protein GFAP and S100β, markers of astrocytes. We found a significant decrease in the number of astrocytes in the gray and white matter of all prefrontal areas of interest with both markers. We also found an increased state of activation of GFAP+ astrocytes in all areas. A reduced number of astrocytes in the cerebral cortex in ASD could lead to impaired synaptic function and disrupted connectivity. An increased astrocyte activation may indicate a chronic mild inflammatory state of the cerebral cortex in ASD. Overall, we found that astrocytes are disrupted in ASD.

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51. Walsh MJM, Pagni B, Monahan L, Delaney S, Smith CJ, Baxter L, Braden BB. Sex-related brain connectivity correlates of compensation in adults with autism: insights into female protection. Cerebral cortex (New York, NY : 1991). 2022.

The male preponderance in autism spectrum disorder (ASD) led to the hypothesis that aspects of female biology are protective against ASD. Females with ASD (ASD-F) report more compensatory behaviors (i.e. « camouflaging ») to overcome ASD-related social differences, which may be a mechanism of protection. No studies have examined sex-related brain pathways supporting camouflaging in ASD-F, despite its potential to inform mechanisms underlying the ASD sex bias. We used functional connectivity (FC) to investigate « sex-atypical » and « sex-typical » FC patterns linked to camouflaging in adults with ASD and examined multimodal coherence of findings via structural connectometry. Exploratory associations with cognitive/emotional functioning examined the adaptive nature of FC patterns. We found (i) « sex-atypical » FC patterns linked to camouflaging in the hypothalamus and precuneus and (ii) « sex-typical » patterns in the right anterior cingulate and anterior parahippocampus. Higher hypothalamic FC with a limbic reward cluster also correlated with better cognitive control/emotion recognition. Structural connectometry validated FC results with consistent brain pathways/effect patterns implicated in ASD-F. In summary, « male-typical » and « female-typical » brain connectivity patterns support camouflaging in ASD-F in circuits implicated in reward, emotion, and memory retrieval. « Sex-atypical » results are consistent with fetal steroidogenic/neuroinflammatory hypotheses. However, female genetics/biology may contribute to « female-typical » patterns implicated in camouflaging.

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52. Wang JY, Grigsby J, Placido D, Wei H, Tassone F, Kim K, Hessl D, Rivera SM, Hagerman RJ. Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation. Frontiers in neurology. 2022; 13: 797649.

BACKGROUND: Fragile X premutation carriers (55-200 CGG triplets) may develop a progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), after the age of 50. The neuroradiologic markers of FXTAS are hyperintense T2-signals in the middle cerebellar peduncle-the MCP sign. We recently noticed abnormal T2-signals in the globus pallidus in male premutation carriers and controls but the prevalence and clinical significance were unknown. METHODS: We estimated the prevalence of the MCP sign and pallidal T2-abnormalities in 230 male premutation carriers and 144 controls (aged 8-86), and examined the associations with FXTAS symptoms, CGG repeat length, and iron content in the cerebellar dentate nucleus and globus pallidus. RESULTS: Among participants aged ≥45 years (175 premutation carriers and 82 controls), MCP sign was observed only in premutation carriers (52 vs. 0%) whereas the prevalence of pallidal T2-abnormalities approached significance in premutation carriers compared with controls after age-adjustment (25.1 vs. 13.4%, p = 0.069). MCP sign was associated with impaired motor and executive functioning, and the additional presence of pallidal T2-abnormalities was associated with greater impaired executive functioning. Among premutation carriers, significant iron accumulation was observed in the dentate nucleus, and neither pallidal or MCP T2-abnormalities affected measures of the dentate nucleus. While the MCP sign was associated with CGG repeat length >75 and dentate nucleus volume correlated negatively with CGG repeat length, pallidal T2-abnormalities did not correlate with CGG repeat length. However, pallidal signal changes were associated with age-related accelerated iron depletion and variability and having both MCP and pallidal signs further increased iron variability in the globus pallidus. CONCLUSIONS: Only the MCP sign, not pallidal abnormalities, revealed independent associations with motor and cognitive impairment; however, the occurrence of combined MCP and pallidal T2-abnormalities may present a risk for greater cognitive impairment and increased iron variability in the globus pallidus.

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53. Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O’Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. Mutational Landscape of Autism Spectrum Disorder Brain Tissue. Genes. 2022; 13(2).

Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, most studies rely on estimates of mosaicism from peripheral samples. In this study, we undertook whole exome sequencing on brain tissue from 26 ASD brain donors from the Harvard Brain Tissue Resource Center (HBTRC) and ascertained the presence of post-zygotic and germline mutations categorized as pathological, including those impacting known ASD-implicated genes. Although quantification did not reveal enrichment for post-zygotic mutations compared with the controls (n = 15), a small number of pathogenic, potentially ASD-implicated mutations were identified, notably in TRAK1 and CLSTN3. Furthermore, germline mutations were identified in the same tissue samples in several key ASD genes, including PTEN, SC1A, CDH13, and CACNA1C. The establishment of tissue resources that are available to the scientific community will facilitate the discovery of new mutations for ASD and other neurodevelopmental disorders.

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54. Yaacob WNW, Yaacob LH, Zulkifli MM, Muhamad R. A Journey towards Resilience: Coping Strategies Adopted by Parents with Children Having Autism Spectrum Disorder in Northeast Malaysia. International journal of environmental research and public health. 2022; 19(4).

BACKGROUND: The prevalence of Autism Spectrum Disorder (ASD) has been increasing for the past two decades. Parents with autism have been known to be at risk of psychological distress and maladaptation, but many parents were able to overcome this adversity and lead to a good quality of life. METHODS: In-depth interviews were conducted among 21 parents of children with ASD. Interviews were transcribed and evaluated using thematic analysis. RESULTS: The analysis discovered three main themes: acceptance and positive outlook, reaching for helping hands, and understanding autism and finding its solutions. CONCLUSIONS: Although the findings cannot be generalised to other populations with ASD, this study provides a detailed perspective on their unique coping strategies. Insights gained from this study could help health care providers, authorities, and communities to address a specific need and able to advocate relevant support measures to assist them.

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55. Zhang K, Yuan Y, Chen J, Wang G, Chen Q, Luo M. Eye Tracking Research on the Influence of Spatial Frequency and Inversion Effect on Facial Expression Processing in Children with Autism Spectrum Disorder. Brain sciences. 2022; 12(2).

Facial expression processing mainly depends on whether the facial features related to expressions can be fully acquired, and whether the appropriate processing strategies can be adopted according to different conditions. Children with autism spectrum disorder (ASD) have difficulty accurately recognizing facial expressions and responding appropriately, which is regarded as an important cause of their social disorders. This study used eye tracking technology to explore the internal processing mechanism of facial expressions in children with ASD under the influence of spatial frequency and inversion effects for improving their social disorders. The facial expression recognition rate and eye tracking characteristics of children with ASD and typical developing (TD) children on the facial area of interest were recorded and analyzed. The multi-factor mixed experiment results showed that the facial expression recognition rate of children with ASD under various conditions was significantly lower than that of TD children. TD children had more visual attention to the eyes area. However, children with ASD preferred the features of the mouth area, and lacked visual attention and processing of the eyes area. When the face was inverted, TD children had the inversion effect under all three spatial frequency conditions, which was manifested as a significant decrease in expression recognition rate. However, children with ASD only had the inversion effect under the LSF condition, indicating that they mainly used a featural processing method and had the capacity of configural processing under the LSF condition. The eye tracking results showed that when the face was inverted or facial feature information was weakened, both children with ASD and TD children would adjust their facial expression processing strategies accordingly, to increase the visual attention and information processing of their preferred areas. The fixation counts and fixation duration of TD children on the eyes area increased significantly, while the fixation duration of children with ASD on the mouth area increased significantly. The results of this study provided theoretical and practical support for facial expression intervention in children with ASD.

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