1. Arora V, Takkar A, Mehta A, Malleda N, Kumar P. Fragile X Syndrome Due to a Frameshift Deletion: A Rare Mechanism. Indian J Pediatr;2022 (Jul 20)

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2. Cross L, Piovesan A, Atherton G. Autistic people outperform neurotypicals in a cartoon version of the Reading the Mind in the Eyes. Autism Res;2022 (Jul 20)

Prior research suggests that while autistic people may demonstrate poorer facial emotion recognition when stimuli are human, these differences lessen when stimuli are anthropomorphic. To investigate this further, this work explores emotion recognition in autistic and neurotypical adults (n = 196). Groups were compared on a standard and a cartoon version of the Reading the Mind in the Eyes test. Results indicated that autistic individuals were not significantly different from neurotypicals on the standard version. However, autistic people outperformed neurotypicals on the cartoon version. The implications for these findings regarding emotion recognition deficits and the social motivation account of autism are discussed and support the view of socio-cognitive differences rather than deficits in this population.

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3. da Hora CL, Sella AC. Evaluation parameters for evidence-based practices for people with autism spectrum disorder: a narrative review of group and single-subject design studies. Psicol Reflex Crit;2022 (Jul 20);35(1):23.

Recommendations for using evidence-based practices have become increasingly common in services for individuals diagnosed with autistic spectrum disorder (ASD). The aim of this study was to conduct a narrative literature review to identify differences and similarities in evidence-evaluation criteria for group and single-subject designs that empirically support interventions for people with ASD. Data sources used in this analysis were reports and articles elaborated by different clearinghouses (i.e., National Autism Center, National Professional Development Center, and the National Clearinghouse on Autism Evidence and Practice). The criteria for evaluating evidence, as defined by these documents, contained specific components or quality indicators for each type of study design. The different criteria for evaluating evidence and for classifying the interventions (once evidence was evaluated) were identified and described. This manuscript discusses the need for (a) expanding the analysis beyond the evidence identified by different researchers and organizations such as the clearinghouses, (b) proposing interventions that are based not only on scientific evidence but also on social validity – which is directed by client idiosyncrasies, and (c) attention to the fact that EBPs should not be seen as static information regarding interventions with empirical support: evidence-based practices are the result of constant analysis of the intervention implementation data added to professional training and client values and context. Some additional issues and the study limitations are also presented.

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4. Frehner SS, Dooley KT, Palumbo MC, Smith AL, Goodman MM, Bales KL, Freeman SM. Effect of sex and autism spectrum disorder on oxytocin receptor binding and mRNA expression in the dopaminergic pars compacta of the human substantia nigra. Philos Trans R Soc Lond B Biol Sci;2022 (Aug 29);377(1858):20210118.

Oxytocin is an endogenous neuropeptide hormone that influences social behaviour and bonding in mammals. Variations in oxytocin receptor (OXTR) expression may play a role in the social deficits seen in autism spectrum disorder. Previous studies from our laboratory found a dense population of OXTR in the human substantia nigra (SN), a basal ganglia structure in the midbrain that is important in both movement and reward pathways. Here, we explore whether differences in OXTR can be identified in the dopaminergic SN pars compacta of individuals with autism. Postmortem human brain tissue specimens were processed for OXTR autoradiography from four groups: males with autism, females with autism, typically developing (TD) males and TD females. We found that females with autism had significantly lower levels of OXTR than the other groups. To examine potential gene expression differences, we performed in situ hybridization in adjacent slides to visualize and quantify OXTR mRNA as well as mRNA for tyrosine hydroxylase. We found no differences in mRNA levels for either gene across the four groups. These results suggest that a dysregulation in local OXTR protein translation or increased OXTR internalization/recycling may contribute to the differences in social symptoms seen in females with autism. This article is part of the theme issue ‘Interplays between oxytocin and other neuromodulators in shaping complex social behaviours’.

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5. García R, Irarrázaval M, López I, Riesle S, Cabezas M, Moyano A, Garrido G, Valdez D, C SdP, Rosoli A, Cukier S, Montiel-Nava C, Rattazzi A. [Survey for Caregivers of People with Autism Spectrum in Chile: Access to Health and Education Services, Satisfaction, Quality of Life And Stigma]. Andes Pediatr;2022 (Jun);93(3):351-360.

INTRODUCTION: People on the Autism Spectrum (AS) face multiple health, education, social, and economic pro blems. There is limited available information in Chile. OBJECTIVE: To describe the access and satisfac tion with health and education services, family and economic impact, stigma, and quality of life of people with AS and their families in Chile. SUBJECTS AND METHOD: Parents/caregivers of AS persons completed the Caregiver Needs Survey, developed by Autism Speaks, which includes demographic information, characteristics of AS persons (previously published), use of health and education servi ces, parents/caregivers’ perceptions of satisfaction, impact, stigma, and quality of life. RESULTS: 291 caregivers (86% mothers) of 291 AS persons participated, 89% were male, aged 1-40 years (X:10.4 SD:6.1). Limited and unspecific access to health services is reported. 77% are regularly attending a standard or special school system. Families pay for over 60% of therapies/medical care and over 40% of specific educational support, and 25% report difficulties in accessing services. The family income is affected by resignation (35%) or reduced working hours (46%). Stigma is associated with possi ble discrimination and feelings of helplessness. The main priorities mentioned for a better quality of life are support for inclusive schooling, better adjustment at home, and improved socialization. CONCLUSIONS: This survey provides relevant information about the needs, barriers, and challenges of AS people in Chile and highlights the difficulties in accessing health services and the severe impact on family income. Feelings of stigma, discrimination, and helplessness are reported. Collaborative strategies are needed to improve the quality and access to services and to reduce the economic and mental health burden on the family.

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6. Gómez-Marí I, Tárraga-Mínguez R, Pastor-Cerezuela G. Analysis of Spanish Parents’ Knowledge about ASD and Their Attitudes towards Inclusive Education. Eur J Investig Health Psychol Educ;2022 (Jul 21);12(7):870-881.

To make possible the inclusion of children with autism spectrum disorder (ASD) in mainstream settings, parental knowledge and attitudes towards the disorder play a key role between the home and the school setting. However, prior literature has not carried out an in-depth analysis of parents’ knowledge about ASD and their attitudes toward the inclusion of children with this diagnosis. This study examined the parental attitudes towards inclusion and knowledge about ASD. Participants were parents of children with ASD (n = 75), parents of children without ASD whose children had prior or current contact with peers with ASD (n = 44), and parents of children with no previous interactions with a peer with ASD (n = 51). The Attitudes of Regular Educators Towards Inclusion for Students with Autism Survey and the Autism Knowledge Questionnaire were filled out. Nonparametric statistical tests were used. Results showed that parents of children with ASD have better knowledge about this disorder and hold more favorable attitudes towards the inclusion of children with ASD than the other parents. These findings suggest that the benefits of inclusive schooling are limited to the school setting and do not appear to affect families of children without ASD.

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7. Hernando-Davalillo C, Martín AAS, Borregan Prats M, Ortigoza-Escobar JD. De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder. Clin Genet;2022 (Jul 21)

Genetic studies have established a connection between FAT1 (FAT atypical cadherin 1) deletion and variants and autism spectrum disorder (ASD). Here, we describe a 7-year-old girl who sought a neurology consultation in order to be evaluated for ASD and was found to have a de novo 4q35.2 duplication containing the FAT1 gene. Similar to other reported cases of FAT1 variants or deletion, this patient exhibits non-syndromic ASD without facial dysmorphism or brain MRI abnormalities. We suggest also considering FAT1 duplication as a potential ASD cause. This article is protected by copyright. All rights reserved.

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8. Kawai T. The symbolic and non-symbolic aspect of image: clinical and cultural reflections. J Anal Psychol;2022 (Apr);67(2):621-634.

It is fundamental for analytical psychology to understand images symbolically. However, Jung was aware of the non-symbolic and direct appearance of image in synchronistic visions and dreams. Therefore, there are two aspects of the non-symbolic: literal and synchronistic. Firstly, the pathology of the non-symbolic was explored in psychosomatic syndromes, trauma, borderline syndromes and autism spectrum disorder (ASD). Then the historical and cultural considerations show that dreams were shared and understood directly and non-symbolically in Japanese medieval times. Historically, the symbolic aspect emerged through the loss of this directness and is characteristic for the modern, western, and adult consciousness. However, the increasing prevalence of ASD and ambiguity between reality and virtual reality show that the contemporary world is again dominated by directness and the non-symbolic, which can be called ‘postmodern consciousness’.

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9. López-Espejo MA, Núñez AC, Moscoso OC, Escobar RG. [Motor disturbances in children with autism spectrum disorder]. Andes Pediatr;2022 (Feb);93(1):37-42.

OBJECTIVE: To describe main motor disorders detected in children with autism spectrum disorder (ASD) and analyze associated clinical variables. PATIENTS AND METHOD: A cross-sectional observatio nal study of 96 children with ASD, median age 4 years (range, 3-9), 32.3% girls, and 18.8% preterm. Children were evaluated at the UC-CHRISTUS Clinical Hospital Neurodevelopmental Unit for three years. We analyzed the relationship between motor signs (stereotypies, delayed gait, and hypo/hyper tonia) and spoken language at 4 years of age. RESULTS: 63.5% of children presented a motor disorder, 33.3% had hand or body motor stereotypies at the time of the evaluation, and 28.1% had delayed gait (> 16 months of corrected gestational age). These children had a higher frequency of absence of spoken language at four years of age (OR = 9.36; 95% CI = 2.67-32.78) than patients without delayed gait. 40.6% of children presented alterations in muscle tone during the first two years of life (32.3% generalized hypotonia and 8.3% generalized hypertonia). A history of generalized hypotonia increases the chance of presenting delayed gait (OR = 2.65; 95% CI = 1.08-6.48) and motor stereo typies (OR = 2.63; 95% CI = 1.04-6.65). CONCLUSIONS: Children with ASD usually develop motor disorders that may precede the diagnosis of the condition. In ASD, infant hypotonia may predict the occurrence of other motor disorders, and delayed gait was associated with spoken language absence in preschool age.

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10. Nicholas DB, Mitchell W, Ciesielski J, Khan A, Lach L. A Qualitative Examination of the Impact of the COVID-19 Pandemic on Individuals with Neuro-developmental Disabilities and their Families. J Child Fam Stud;2022 (Jul 14):1-13.

Individuals with neuro-developmental disabilities (NDD) have been profoundly affected by the COVID-19 pandemic. Based on focus groups with 24 service providers supporting this population, using an Interpretive Description approach, we examined perceived impacts of the pandemic on individuals with NDD and their families. The results highlight pandemic-related experiences which include: service reduction, the need for financial supports, relying on natural supports, and school-related challenges. Interruptions in services have resulted in intensified mental health issues for individuals with NDD and family caregivers, with particular concern for those with added social determinants of health-related barriers. Mitigating factors have also emerged, such as resilience and technology utilization to facilitate communication. Recommendations for resource flexibility and sufficiency as well as navigational support are offered.

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11. Philip TJ, Patel NA, Gonzalez E. Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient With Fragile X Syndrome. J Pediatr Ophthalmol Strabismus;2022 (Jul-Aug);59(4):e39-e41.

A 13-year-old boy with fragile X syndrome presented with painless, decreased vision in his right eye. Funduscopy revealed fibrotic tissue and an epiretinal membrane. This patient with fragile X syndrome was diagnosed as having combined hamartoma of the retina and retinal pigment epithelium and treated with vitrectomy and epiretinal membrane peeling. [J Pediatr Ophthalmol Strabismus. 2022;59(4):e39-e41.].

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12. Pourtavakoli A, Ghafouri-Fard S. Calcium signaling in neurodevelopment and pathophysiology of autism spectrum disorders. Mol Biol Rep;2022 (Jul 20)

BACKGROUND: Autism spectrum disorder (ASD) covers a group of neurodevelopmental disorders with complex genetic background. Several genetic mutations, epigenetic alterations, copy number variations and single nucleotide polymorphisms have been reported that cause ASD or modify its phenotype. Among signaling pathways that influence pathogenesis of ASD, calcium signaling has a prominent effect. METHODS: We searched PubMed and Google Scholar databases with key words « Calcium signaling » and « Autism spectrum disorder ». CONCLUSION: This type of signaling has essential roles in the cell physiology. Endoplasmic reticulum and mitochondria are the key organelles involved in this signaling. It is vastly accepted that organellar disorders intensely influence the central nervous system (CNS). Several lines of evidence indicate alterations in the function of calcium channels in polygenic disorders affecting CNS. In the current review, we describe the role of calcium signaling in normal function of CNS and pathophysiology of ASD.

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13. Spain D, Stewart GR, Mason D, Milner V, Fairhurst B, Robinson J, Gillan N, Ensum I, Stark E, Happe F. Telehealth Autism Diagnostic Assessments With Children, Young People, and Adults: Qualitative Interview Study With England-Wide Multidisciplinary Health Professionals. JMIR Ment Health;2022 (Jul 20);9(7):e37901.

BACKGROUND: Autism spectrum disorder (hereafter, autism) is a common neurodevelopmental condition. Core traits can range from subtle to severe and fluctuate depending on context. Individuals can present for diagnostic assessments during childhood or adulthood. However, waiting times for assessment are typically lengthy, and many individuals wait months or even years to be seen. Traditionally, there has been a lack of standardization between services regarding how many and which multidisciplinary health professionals are involved in the assessment and the methods (diagnostic tools) that are used. The COVID-19 pandemic has affected routine service provision because of stay-at-home mandates and social distancing guidelines. Autism diagnostic services have had to adapt, such as by switching from conducting assessments in person to doing these fully via telehealth (defined as the use of remote technologies for the provision of health care) or using blended in-person or telehealth methods. OBJECTIVE: This study explored health professionals’ experiences of and perspectives about conducting telehealth autism diagnostic assessments, including barriers and facilitators to this, during the COVID-19 pandemic; potential telehealth training and supervision needs of health professionals; how the quality and effectiveness of telehealth autism diagnostic services can be enhanced; and experiences of delivering postdiagnostic support remotely. METHODS: A total of 45 health professionals, working in varied settings across England, participated in one-off, in-depth semistructured qualitative interviews. These were conducted via videoconferencing or telephone. Altogether, participants represented 7 professional disciplines (psychiatry, medicine, psychology, speech and language therapy, occupational therapy, nursing, and social work). The data were then analyzed thematically. RESULTS: Thematic analysis indicated the following 7 themes: practicalities of telehealth, telehealth autism diagnostic assessments, diagnostic conclusions, clinical considerations, postdiagnostic support, future ways of working, and health professionals’ experiences and needs. Overall, telehealth autism diagnostic assessments were deemed by many participants to be convenient, flexible, and efficient for some patients, families, and health professionals. However, not all patients could be assessed in this way, for example, because of digital poverty, complex clinical presentation, or concerns about risk and safeguarding. Working remotely encouraged innovation, including the development of novel assessment measures. However, some participants expressed significant concerns about the validity and reliability of remotely assessing social communication conditions. CONCLUSIONS: A shift to telehealth meant that autism diagnostic services remained operational during the COVID-19 pandemic. However, this method of working has potentially affected the parity of service, with people presenting with clinical complexity having to potentially wait longer to be seen or given a diagnostic opinion. There is also a lack of standardization in the provision of services. Further research should identify evidence-based ways of enhancing the timeliness, accessibility, and robustness of the autism diagnostic pathway, as well as the validity and reliability of telehealth methods.

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14. Stockham NT, Paskov KM, Tabatabaei K, Sutaria S, Liu B, Kent J, Wall DP. An Informatics Analysis to Identify Sex Disparities and Healthcare Needs for Autism across the United States. AMIA Annu Symp Proc;2022;2022:456-465.

Autism is among the most common neurodevelopmental conditions. Timely diagnosis and access to therapeutic resources are essential for positive prognoses, yet long queues and unevenly dispersed resources leave many untreated. Without granular estimates of autism prevalence by geographic area, it is difficult to identify unmet needs and mechanisms to address them. Mining a dataset of 53M children using meaningful geographic regions, we computed autism prevalence across the country. We then performed comparative analysis against 50,000 resources to identify the type and extent of gaps in access to autism services. We find a steady increase in autism diagnoses from K-5, supporting delayed diagnosis of autism, and consistent under-diagnosis of females. We find a significant inverse relationship between prevalence and availability of resources (p < 0.001). While more work is needed to characterize additional trends including racial and ethnicity-based disparities, the identification of resource gaps can direct and prioritize new innovations.

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15. Su L, Zhang M, Ji F, Zhao J, Wang Y, Wang W, Zhang S, Ma H, Jiao J. Microglia homeostasis mediated by epigenetic ARID1A regulates neural progenitor cells response and leads to autism-like behaviors. Mol Psychiatry;2022 (Jul 20)

Microglia are resident macrophages of the central nervous system that selectively emerge in embryonic cortical proliferative zones and regulate neurogenesis by altering molecular and phenotypic states. Despite their important roles in inflammatory phagocytosis and neurodegenerative diseases, microglial homeostasis during early brain development has not been fully elucidated. Here, we demonstrate a notable interplay between microglial homeostasis and neural progenitor cell signal transduction during embryonic neurogenesis. ARID1A, an epigenetic subunit of the SWI/SNF chromatin-remodeling complex, disrupts genome-wide H3K9me3 occupancy in microglia and changes the epigenetic chromatin landscape of regulatory elements that influence the switching of microglial states. Perturbation of microglial homeostasis impairs the release of PRG3, which regulates neural progenitor cell self-renewal and differentiation during embryonic development. Furthermore, the loss of microglia-driven PRG3 alters the downstream cascade of the Wnt/β-catenin signaling pathway through its interaction with the neural progenitor receptor LRP6, which leads to misplaced regulation in neuronal development and causes autism-like behaviors at later stages. Thus, during early fetal brain development, microglia progress toward a more homeostatic competent phenotype, which might render neural progenitor cells respond to environmental cross-talk perturbations.

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16. Zhang R, Birgegård A, Fundín B, Landén M, Thornton LM, Bulik CM, Dinkler L. Association of autism diagnosis and polygenic scores with eating disorder severity. Eur Eat Disord Rev;2022 (Jul 19)

Among individuals with eating disorders (ED), those with co-occurring autism are often considered to have more severe presentations and poorer prognosis. However, previous findings have been contradictory and limited by small sample size and/or cross-sectional assessment of autistic traits. We examine the hypothesis that autism diagnosis and autism polygenic score (PGS) are associated with increased ED severity in a large ED cohort using a broad range of ED severity indicators. Our cohort included 3189 individuals (64 males) born 1977-2000 with current or previous anorexia nervosa who participated in the Anorexia Nervosa Genetics Initiative-Sweden (ANGI-SE) and for whom genotypes and linkage to national registers were available. We identified 134 (4.2%) individuals with registered autism diagnoses. Individuals with confirmed autism diagnosis had significantly more severe ED across three sets of severity indicators. Some of the largest effects were found for the proportion of individuals who attempted suicide and who received tube feeding (higher in autism), and for the time spent in inpatient care (longer in autism). Results for autism PGS were not statistically significant. Adapting ED treatment to the needs of individuals with co-occurring autism is an important research direction to improve treatment outcome in this group.

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17. Zhang W, Thompson KL. Access to Care for US Children with Co-Occurrence of Autism Spectrum Disorder and Epilepsy. Children (Basel);2022 (Jul 21);9(7)

Epilepsy is a common comorbidity among children with autism spectrum disorder (ASD). There is a lack of understanding of the inequality in access to care for children with co-occurring ASD and epilepsy (ASD-EP). The purpose of this study is to examine key indicators for access to care and care coordination for children with ASD-EP in the US National Survey of Children’s Health (NSCH). Data were collected from the 2017-2019 NSCH. Our analytic sample included children with ASD without epilepsy (N = 2150), children with both ASD and epilepsy (N = 143), and children with epilepsy without ASD (N = 711). The dependent variables included important access to care indicators such as having usual sources of care, having adequate coverage, being frustrated in efforts to get service, and receiving care coordination. The independent variables included ASD-EP status, child demographics, and an intellectual disability (ID) diagnosis. Our results show that demographic characteristics such as sex, race, income level, and insurance type affect access to care. Inadequate access to healthcare was significantly higher among female children, children from low-income families, and children with ID. The access barriers among children with ASD-EP were more likely due to the interplay of multiple clinical and individual factors.

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18. Zhang Y, Glineburg MR, Basrur V, Conlon K, Wright SE, Krans A, Hall DA, Todd PK. Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome. Hum Mol Genet;2022 (Jul 21);31(14):2317-2332.

Repeat associated non-AUG (RAN) translation of CGG repeats in the 5’UTR of FMR1 produces toxic proteins that contribute to fragile X-associated tremor/ataxia syndrome (FXTAS) pathogenesis. The most abundant RAN product, FMRpolyG, initiates predominantly at an ACG upstream of the repeat. Accurate FMRpolyG measurements in FXTAS patients are lacking. We used data-dependent acquisition and parallel reaction monitoring (PRM) mass spectrometry coupled with stable isotope labeled standard peptides to identify signature FMRpolyG fragments in patient samples. Following immunoprecipitation, PRM detected FMRpolyG signature peptides in transfected cells, and FXTAS tissues and cells, but not in controls. We identified two amino-terminal peptides: an ACG-initiated Ac-MEAPLPGGVR and a GUG-initiated Ac-TEAPLPGGVR, as well as evidence for RAN translation initiation within the CGG repeat itself in two reading frames. Initiation at all sites increased following cellular stress, decreased following eIF1 overexpression and was eIF4A and M7G cap-dependent. These data demonstrate that FMRpolyG is quantifiable in human samples and FMR1 RAN translation initiates via similar mechanisms for near-cognate codons and within the repeat through processes dependent on available initiation factors and cellular environment.

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