1. Aslan E, Guzel I, Caypinar B, Samanci B, Oysu C. Evaluation of the Auditory System in Autistic Children Using Evoked Otoacoustic Emissions and a Contralateral Suppression Test. Ear, nose, & throat journal. 2022: 145561319838934.

In this study, we evaluated the cochlea, medial olivocochlear system, and brainstem function in autistic children using evoked otoacoustic emissions (OAEs) and a noninvasive contralateral suppression (CLS) test. In total, we included 21 autistic children with normal hearing (study group) and 11 healthy children (control group). Transient-evoked OAEs (TEOAEs) and CLS of TEOAE were evaluated in the left and right ears of all patients. In a silent room, spontaneous, transient, and dP ILO292 were evaluated. The mean age of the study and control group was 9.1 years (range: 6-13 and 6-12 years, respectively). For the study group, there was no statistically significant difference between the OAE and CLS values of the right ear (P > .05). However, for the left ears, OAE values were statistically significantly higher than the CLS values (P < .05). In the control group, the OAE values of both ears were statistically significantly higher than the CLS values (P < .05). In autistic children with normal hearing, the medial olivocochlear system functions more effectively in the right ear than the left ear. Asymmetry between the ears is likely responsible for the peripheral auditory lateralization and independence in auditory function between the left and right ears.

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2. Berry-Kravis E. Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies. American journal on intellectual and developmental disabilities. 2022; 127(2): 90-4.

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic science and animal models to humans with FXS has proven difficult. These challenges have prompted the FXS field to organize to build interlocking projects to support initiatives to improve supportive care, make clinical research accessible to families, generate collaborative research on natural history and outcome measures, and create clinical trial consortia and novel trial designs.

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3. Bozkus-Genc G, Sani-Bozkurt S. How parents of children with autism spectrum disorder experience the COVID-19 pandemic: Perspectives and insights on the new normal. Research in developmental disabilities. 2022; 124: 104200.

BACKGROUND: Considering the fact that family members necessarily spend more time together during the pandemic, this study aims to reveal the perceptions of parents with children who have autism spectrum disorder of the COVID-19 pandemic in Turkey and their experiences of the difficulties during the pandemic. METHOD: A qualitative phenomenology design was used in the study. Seven mothers and one father gave their consent and participated in the study. Data were collected through semi-structured interviews and analyzed using content analysis. RESULTS: The results of the analysis were collected in two broad themes using 68 codes. The perspective of the parents, who evaluated the pandemic process positively in the beginning, became negative as lockdown lengthened. The issues and adverse effects of the pandemic that they most talked about were the increasing roles and responsibilities of parents, the deep impact on their mental health, and the problems experienced in distance education. CONCLUSIONS: During this period, parents who were psychologically depressed wanted to feel that they were not alone. Parents made many suggestions and recommendations so that others would not have the same experience.

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4. Brady NC. Successes and Challenges in Treating Severe Communication Disorders. American journal on intellectual and developmental disabilities. 2022; 127(2): 99-102.

This article summarizes research focusing on communication skills of people with intellectual and developmental disabilities (IDD) who communicate primarily without speech, sign language, or augmentative communication. Importantly, developmental theories were emphasized as useful for interpreting communication in children and adults. These studies led to research aimed at developing improved assessments and interventions for individuals with IDD, who may have a variety of diagnoses. Future research is needed to facilitate more widespread use of these tools by clinicians and researchers.

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5. Brede J, Cage E, Trott J, Palmer L, Smith A, Serpell L, Mandy W, Russell A. « We Have to Try to Find a Way, a Clinical Bridge » – autistic adults’ experience of accessing and receiving support for mental health difficulties: A systematic review and thematic meta-synthesis. Clinical psychology review. 2022; 93: 102131.

Co-occurring mental health difficulties among autistic adults are common and this association has implications for mental health services. Gaining a comprehensive understanding of autistic adults’ experiences of accessing and receiving mental health support is a critical step to fully inform service provision. We conducted a systematic review and meta-synthesis of qualitative studies exploring autistic adults’ mental health service experiences, triangulating the perspectives of autistic adults, clinicians and parents. Electronic database searches in MEDLINE, PsycINFO and Embase were conducted up to October 2021. This identified 10,068 studies, of which 38 met study inclusion criteria. Using a thematic synthesis approach, we generated three superordinate analytical themes « Lonely, difficult service experience », « Complexity needs flexibility » and « Collaboration and empowerment », each with several subthemes. Our findings show that currently, mental health services do not adequately support autistic adults, and can even cause additional harm. There is a need for a more flexible, comprehensive and holistic approach, considering how being autistic affects the individual’s mental health presentation and tailoring support to their needs. Building trusting relationships, listening to autistic adults, and empowering them to take agency, appear to be fundamental steps towards more successful mental health care provision.

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6. Griffiths JL, Mishaal RA, Nabetani M, Goldman RD. Oxytocin for the treatment of autism spectrum disorder in children. Canadian family physician Medecin de famille canadien. 2022; 68(2): 103-5.

QUESTION: Several parents have recently asked me if oxytocin would be helpful for treating their children with autism spectrum disorder (ASD). What do we currently know about the use of oxytocin for the treatment of children with ASD? ANSWER: Autism spectrum disorder is prevalent among children in Canada, with most affected children experiencing difficulties with social function. Behavioural and educational interventions are the first-line treatments for children with ASD. Multiple studies of oxytocin in children with ASD from the past 2 decades provide equivocal results related to social functioning, and a recent large study did not show benefit from treatment with oxytocin. Small sample sizes and differences in participant age, oxytocin formulation and dose, treatment duration, outcome measures, and analytic methods may help explain some of these disparities. The fact that ASD has a range of clinical presentations may also contribute to mixed results. The use of oxytocin has limited benefit in changing social function in children with ASD and there is no support for its current use in the treatment of this population.

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7. Huys M, Dhondt K. [Gender variance or gender dysphoria and autism spectrum disorder in children and adolescents]. Tijdschrift voor psychiatrie. 2022; 64(1): 25-31.

BACKGROUND: Clinical experience suggests that gender variance (GV) and/or gender dysphoria (GD) and autism spectrum disorder (ASD) characteristics co-occur more frequently than expected. AIM: This literature review examines the available publications focusing on the co-occurrence of GD/GV and ASD in children and adolescents. METHOD: PubMed and Embase were systematically searched for relevant publications with search terms related to ‘autism spectrum disorder’ and ‘gender dysphoria/gender variance’. RESULTS: A total of 12 publications were included. A higher incidence of comorbidity was reported compared to what is epidemiologically expected, starting from an ASD study population and a population of children and adolescents with GD/GV. The results should be interpreted with caution due to methodological limitations in the studies as e.g. in the diagnostic assessment and the frequent lack of a control group. CONCLUSION: The more frequent co-occurrence of ASD and GD/GV has consequences for clinical practice. In both diagnostic and supportive care pathways, it is advisable to recognize and acknowledge both conditions and to work out an adapted pathway. More targeted research into specific characteristics in this group is necessary in order to fine-tune (mental) health care and long-term perspectives.

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8. Kútna V, O’Leary VB, Hoschl C, Ovsepian SV. Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model. Autism research : official journal of the International Society for Autism Research. 2022.

The cerebellum hosts more than half of all neurons of the human brain, with their organized activity playing a key role in coordinating motor functions. Cerebellar activity has also been implicated in the control of speech, communication, and social behavior, which are compromised in autism spectrum disorders (ASD). Despite major research advances, there is a shortage of mechanistic data relating cellular and molecular changes in the cerebellum to autistic behavior. We studied the impact of tuberous sclerosis complex 2 haploinsufficiency (Tsc2+/-) with downstream mTORC1 hyperactivity on cerebellar morphology and cellular organization in 1, 9, and 18 m.o. Eker rats, to determine possible structural correlates of an autism-like behavioural phenotype in this model. We report a greater developmental expansion of the cerebellar vermis, owing to enlarged white matter and thickened molecular layer. Histochemical and immunofluorescence data suggest age-related demyelination of central tract of the vermis, as evident from reduced level of myelin-basic protein in the arbora vitae. We also observed a higher number of astrocytes in Tsc2+/- rats of older age while the number of Purkinje cells (PCs) in these animals was lower than in wild-type controls. Unlike astrocytes and PCs, Bergmann glia remained unaltered at all ages in both genotypes, while the number of microglia was higher in Tsc2+/- rats of older age. The convergent evidence for a variety of age-dependent cellular changes in the cerebellum of rats associated with mTORC1 hyperactivity, thus, predicts an array of functional impairments, which may contribute to the developmental onset of an autism-like behavioral phenotype in this model. LAY SUMMARY: This study elucidates the impact of constitutive mTORC1 hyperactivity on cerebellar morphology and cellular organization in a rat model of autism and epilepsy. It describes age-dependent degeneration of Purkinje neurons, with demyelination of central tract as well as activation of microglia, and discusses the implications of these changes for neuro-behavioral phenotypes. The described changes provide new indications for the putative mechanisms underlying cerebellar impairments with their age-related onset, which may contribute to the pathobiology of autism, epilepsy, and related disorders.

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9. Linlin Z, Ciai L, Yanhong S, Huizhong G, Yongchun L, Zhen Y, Shan X, Fengying G, Ying L, Jingjun L, Qin F. A Multi-Target and Multi-Channel Mechanism of Action for Jiawei Yinhuo Tang in the Treatment of Social Communication Disorders in Autism: Network Pharmacology and Molecular Docking Studies. Evidence-based complementary and alternative medicine : eCAM. 2022; 2022: 4093138.

BACKGROUND: Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with complex pathogenesis. Currently, the pathogenesis of ASD is not fully understood. Moreover, current treatments do not effectively alleviate the primary symptoms of ASD social disorder (SCDA). Jiawei Yinhuo Tang (JWYHT) is an improved version of the classic prescription Yinhuo Tang. Although this medication has been shown to improve social behavior in ASD patients, the mechanism by which it works remains unknown. METHODS: In this study, network pharmacology bioinformatics analysis was used to identify the key targets, biological functions, and signal pathways of JWYHT in SCDA. Then, molecular docking and molecular dynamic simulation were used to validate the activity and stability of the active ingredient and the target protein during the binding process. RESULTS: The analysis identified 157 key targets and 9 core targets of JWYHT (including proto-oncogene (FOS), caspase 3 (CASP3), mitogen-activated protein kinase-3 (MAPK3), interleukin-6 (IL6), mitogen-activated protein kinase-1 (MAPK1), tumor necrosis factor (TNF), mitogen-activated protein kinase-8 (MAPK8), AKT serine/threonine kinase 1 (AKT1), and 5-hydroxytryptamine receptor 1B (5HT1B)) in SCDA. In addition, the Kyoto Encyclopedia of Gene and Genome results, as well as the staggering network analyses, revealed 20 biological processes and 20 signal pathways targeted by JWYHT in SCDA. Finally, molecular docking analysis was used to determine the binding activity of the main active components of JWYHT to the key targets. The binding activity and stability of methyl arachidonate and MAPK8 were demonstrated using molecular dynamics simulation. CONCLUSION: This study demonstrates that JWYHT regulates neuronal development, synaptic transmission, intestinal and cerebral inflammatory response, and other processes in SCDA.

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10. Markopoulos A, Inserra A, De Gregorio D, Gobbi G. Evaluating the Potential Use of Serotonergic Psychedelics in Autism Spectrum Disorder. Frontiers in pharmacology. 2021; 12: 749068.

Recent clinical and preclinical evidence points towards empathogenic and prosocial effects elicited by psychedelic compounds, notably the serotonin 5-HT(2A) agonists lysergic acid diethylamide (LSD), psilocybin, N,N-Dimethyltryptamine (DMT), and their derivatives. These findings suggest a therapeutic potential of psychedelic compounds for some of the behavioural traits associated with autism spectrum disorder (ASD), a neurodevelopmental condition characterized by atypical social behaviour. In this review, we highlight evidence suggesting that psychedelics may potentially ameliorate some of the behavioural atypicalities of ASD, including reduced social behaviour and highly co-occurring anxiety and depression. Next, we discuss dysregulated neurobiological systems in ASD and how they may underlie or potentially limit the therapeutic effects of psychedelics. These phenomena include: 1) synaptic function, 2) serotonergic signaling, 3) prefrontal cortex activity, and 4) thalamocortical signaling. Lastly, we discuss clinical studies from the 1960s and 70s that assessed the use of psychedelics in the treatment of children with ASD. We highlight the positive behavioural outcomes of these studies, including enhanced mood and social behaviour, as well as the adverse effects of these trials, including increases in aggressive behaviour and dissociative and psychotic states. Despite preliminary evidence, further studies are needed to determine whether the benefits of psychedelic treatment in ASD outweigh the risks associated with the use of these compounds in this population, and if the 5-HT(2A) receptor may represent a target for social-behavioural disorders.

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11. Marsicano G, Cerpelloni F, Melcher D, Ronconi L. Lower multisensory temporal acuity in individuals with high schizotypal traits: a web-based study. Scientific reports. 2022; 12(1): 2782.

Natural events are often multisensory, requiring the brain to combine information from the same spatial location and timing, across different senses. The importance of temporal coincidence has led to the introduction of the temporal binding window (TBW) construct, defined as the time range within which multisensory inputs are highly likely to be perceptually bound into a single entity. Anomalies in TBWs have been linked to confused perceptual experiences and inaccurate filtering of sensory inputs coming from different environmental sources. Indeed, larger TBWs have been associated with disorders such as schizophrenia and autism and are also correlated to a higher level of subclinical traits of these conditions in the general population. Here, we tested the feasibility of using a web-based version of a classic audio-visual simultaneity judgment (SJ) task with simple flash-beep stimuli in order to measure multisensory temporal acuity and its relationship with schizotypal traits as measured in the general population. Results show that: (i) the response distribution obtained in the web-based SJ task was strongly similar to those reported by studies carried out in controlled laboratory settings, and (ii) lower multisensory temporal acuity was associated with higher schizotypal traits in the « cognitive-perceptual » domains. Our findings reveal the possibility of adequately using a web-based audio-visual SJ task outside a controlled laboratory setting, available to a more diverse and representative pool of participants. These results provide additional evidence for a close relationship between lower multisensory acuity and the expression of schizotypal traits in the general population.

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12. Patel AD, Arya A, Agarwal V, Gupta PK, Agarwal M. Burden of care and quality of life in caregivers of children and adolescents with autism spectrum disorder. Asian journal of psychiatry. 2022; 70: 103030.

BACKGROUND: Autism spectrum disorder is a neurodevelopmental disorder which is increasing across the globe. The disorder in children not only creates burden of care in caregivers but also leads to impaired quality of life of families. OBJECTIVE: To study the burden of care and quality of life in caregivers of children and adolescents with ASD. METHODOLOGY: Cross sectional study conducted in Child and Adolescent psychiatry outpatient services at a government centre in north India between September 2014 to August 2015. The sample consisted of 40 caregivers of children with Autism. Mean age of the caregiver’s were 34.72 ± 6.32 years. Burden of care and quality of life were measured by Burden Assessment Schedule (BAS) and World Health Organization Quality of Life Instrument, Short Form (WHOQOL-BREF) questionnaire respectively. RESULTS: Mean burden of care on BAS was 71.73 ± 8.62 indicating quite a high degree of burden on the caregivers of ASD. Significantly higher burden was reported by caregivers belonging to low income families and caregivers of children in age group 6-12 years. A positive correlation was observed between severity of autism and burden of care in caregivers. The study also found that as the severity of symptom increases the QoL in caregiver worsens. CONCLUSION: Caregivers of children with ASD suffer from high burden of care and impaired QoL.

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13. Pollak RM, Purcell RH, Rutkowski TP, Malone T, Pachura KJ, Bassell GJ, Epstein MP, Dawson PA, Smith MR, Jones DP, Zwick ME, Warren ST, Caspary T, Weinshenker D, Mulle JG. Metabolic effects of the schizophrenia-associated 3q29 deletion. Translational psychiatry. 2022; 12(1): 66.

The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabolic dysregulation. We investigated 3q29 deletion-induced metabolic changes using our previously generated heterozygous B6.Del16(+/Bdh1-Tfrc) mouse model. Animals were provided either standard chow (STD) or high-fat diet (HFD). Growth curves were performed on HFD mice to assess weight change (n = 30-50/group). Indirect calorimetry and untargeted metabolomics were performed on STD and HFD mice to evaluate metabolic phenotypes (n = 8-14/group). A behavioral battery was performed on STD and HFD mice to assess behavior change after the HFD challenge (n = 5-13/group). We found that B6.Del16(+/Bdh1-Tfrc) animals preferentially use dietary lipids as an energy source. Untargeted metabolomics of liver tissue showed a strong sex-dependent effect of the 3q29 deletion on fat metabolism. A HFD partially rescued the 3q29 deletion-associated weight deficit in females, but not males. Untargeted metabolomics of liver tissue after HFD revealed persistent fat metabolism alterations in females. The HFD did not affect B6.Del16(+/Bdh1-Tfrc) behavioral phenotypes, suggesting that 3q29 deletion-associated metabolic and behavioral outcomes are uncoupled. Our data suggest that dietary interventions to improve weight phenotypes in 3q29 deletion syndrome patients are unlikely to exacerbate behavioral manifestations. Our study also highlights the importance of assessing sex in metabolic studies and suggests that mechanisms underlying 3q29 deletion-associated metabolic phenotypes are sex-specific.

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14. Sun S, Webster PJ, Wang Y, Yu H, Yu R, Wang S. Reduced Pupil Oscillation During Facial Emotion Judgment in People with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

People with autism spectrum disorder (ASD) show abnormal face perception and emotion recognition. However, it remains largely unknown whether these differences are associated with abnormal physiological responses when viewing faces. In this study, we employed a sensitive emotion judgment task and conducted a detailed investigation of pupil dilation/constriction and oscillation in high-functioning adult participants with ASD and matched controls. We found that participants with ASD showed normal pupil constriction to faces; however, they demonstrated reduced pupil oscillation, which was independent of stimulus properties and participants’ perception of the emotion. Together, our results have revealed an abnormal physiological response to faces in people with ASD, which may in turn be associated with impaired face perception previously found in many studies.

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15. Uljarević M, Carrington SJ, Hardan AY, Leekam SR. Subdomains of restricted and repetitive behaviors within autism: Exploratory structural equation modeling using the diagnostic interview for social and communication disorders. Autism research : official journal of the International Society for Autism Research. 2022.

The current study aimed to explore the factor structure of a broad range of restricted and repetitive behaviors (RRB) within the autism spectrum. Exploratory structural equation modeling was conducted using individual item-level data from the Diagnostic Interview for Social and Communication Disorders (DISCO). DISCO is a comprehensive semi-structured interview used by clinicians to elicit information from caregivers about the individual’s profile of development and behavior. Data from a sample of 226 individuals with a clinical diagnosis of autism spectrum disorder (ASD) (189 males; M(age) = 11.82 years, SD(age) = 7.87) were analyzed. The six-factor structure provided the most optimal and interpretable fit (comparative fit index = 0.944, Tucker-Lewis index = 0.923, root mean square error of approximation = 0.018). Derived factors were interpreted as repetitive motor behaviors (RMB), unusual sensory and object focused interests (USOI), sensory sensitivity (SS), insistence on sameness (IS), circumscribed interests (CI) and stereotyped language (SL). Age was significantly negatively associated with RMB, USOI and SL but not with SS, IS or CI factor scores. None of the factors were associated with sex. ASD individuals with intellectual disability (ID) had the highest RMB, USOI, SS and SL scores while those without ID had the highest IS and CI scores. Our findings provide preliminary evidence for the utility of the DISCO as a comprehensive measure of several distinct RRB domains in both research and clinical contexts. Importantly, the current investigation highlights crucial areas for measurement development.

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