1. Alhumaid MM. Physical Education Teachers’ Self-Efficacy toward Including Students with Autism in Saudi Arabia. International journal of environmental research and public health. 2021; 18(24).

The inclusion of students with autism in physical education (PE) curricula has become a global trend. Although the self-efficacy of PE teachers has been identified as a major factor supporting the successful implementation of inclusive PE, limited research exists on this area in non-Western societies, especially Saudi Arabia. To address this paucity, the present study aimed (1) to determine the level of self-efficacy among PE teachers in Saudi Arabia toward including students with autism in PE classes via investigating specific independent variables; and (2) to identify the predictors of Saudi PE teachers’ self-efficacy toward including students with autism. A total of 214 Saudi PE teachers (male n = 188; female n = 26; mean age = 41.07 years) participated in this study. Self-efficacy level toward including students with autism was measured using the Arabic version of the Physical Educators’ Self-Efficacy Towards Including Students with Disabilities-Autism (PESEISD-A) instrument. Statistical analysis revealed that PE teachers had a moderate level (M = 4.51, SD = 2.04) of self-efficacy toward including students with autism in PE classes. Multiple linear regression analysis indicated that age and feelings of preparedness of the teachers were significant predictors (β = -0.297; p = 0.012; β = 0.178; p = 0.012, respectively) of their self-efficacy toward including students with autism in PE classes. The findings highlight the need for continued efforts to improve Saudi PE teachers’ level of self-efficacy and preparedness towards successfully including students with autism.

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2. Al-Mazidi SH, Al-Ayadhi LY. National Profile of Caregivers’ Perspectives on Autism Spectrum Disorder Screening and Care in Primary Health Care: The Need for Autism Medical Home. International journal of environmental research and public health. 2021; 18(24).

Although autism spectrum disorder (ASD) is a common developmental disorder, primary healthcare providers show a deficit in providing early diagnosis. To understand parents’ experience and perspective in the diagnosis and intervention process of their children, a survey was deployed through social media to parents’ with at least one child diagnosed with ASD. The survey included parents experience, satisfaction and perception in the diagnosis process and services provided for their children, stigma and type of support received. A total of 223 participants were enrolled. Although 62% of ASD patients were diagnosed by three years old, most diagnoses (66%) were non-physician initiated. Additionally, 40.8% of the parents reported that the services required for their child are available in their area of residence, but only 7.9% were satisfied with these services. Parents who received psychological support (9.9%) started early intervention, and their children have a better prognosis (p ≤ 0.005). Stigmatized parents were more likely to delay intervention (p ≤ 0.005). Parents’ perception is to have qualified healthcare and educational professionals experienced in ASD. Our findings suggest that a specialized family-centred medical home for ASD patients would significantly benefit ASD patients, increase parents’ satisfaction, reduce parents’ stress, and ease their children’s transition to adolescents.

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3. Alvari G, Coviello L, Furlanello C. EYE-C: Eye-Contact Robust Detection and Analysis during Unconstrained Child-Therapist Interactions in the Clinical Setting of Autism Spectrum Disorders. Brain sciences. 2021; 11(12).

The high level of heterogeneity in Autism Spectrum Disorder (ASD) and the lack of systematic measurements complicate predicting outcomes of early intervention and the identification of better-tailored treatment programs. Computational phenotyping may assist therapists in monitoring child behavior through quantitative measures and personalizing the intervention based on individual characteristics; still, real-world behavioral analysis is an ongoing challenge. For this purpose, we designed EYE-C, a system based on OpenPose and Gaze360 for fine-grained analysis of eye-contact episodes in unconstrained therapist-child interactions via a single video camera. The model was validated on video data varying in resolution and setting, achieving promising performance. We further tested EYE-C on a clinical sample of 62 preschoolers with ASD for spectrum stratification based on eye-contact features and age. By unsupervised clustering, three distinct sub-groups were identified, differentiated by eye-contact dynamics and a specific clinical phenotype. Overall, this study highlights the potential of Artificial Intelligence in categorizing atypical behavior and providing translational solutions that might assist clinical practice.

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4. Berloffa S, Dosi C, Tascini B, Fossati B, Lupetti I, Masi G. Neuroleptic Malignant Syndrome in Children with Autism Spectrum Disorder (ASD): A Case Report and Brief Review of Recent Literature. Children (Basel, Switzerland). 2021; 8(12).

Neuroleptic malignant syndrome (NMS) is a rare, life-threatening, idiosyncratic adverse reaction to antipsychotic drugs. Despite the increasing rates in the prescription of antipsychotics in pediatric patients with autism spectrum disorder (ASD), little is known about the occurrence and hallmarks of NMS in this specific population. NMS appears to be part of the larger catatonia domain, based on the frequent relationship between ASD and catatonia, on the shared, when not overlapping, clinical features with malignant catatonia, and on the effectiveness of catatonia treatments on the NMS/MC symptoms. The intrinsic difficulties of exploring NMS in ASD in controlled studies accounts for the subsequent lack of available information. Based on recent reports and on our case report, clinical features of NMS in the pediatric ASD population appear to be the same as the non-ASD population. Further studies are needed to confirm these results.

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5. Bieneck V, Bletsch A, Mann C, Schäfer T, Seelemeyer H, Herøy N, Zimmermann J, Pretzsch CM, Hattingen E, Ecker C. Longitudinal Changes in Cortical Thickness in Adolescents with Autism Spectrum Disorder and Their Association with Restricted and Repetitive Behaviors. Genes. 2021; 12(12).

The neuroanatomy of autism spectrum disorder (ASD) shows highly heterogeneous developmental trajectories across individuals. Mapping atypical brain development onto clinical phenotypes, and establishing their molecular underpinnings, is therefore crucial for patient stratification and subtyping. In this longitudinal study we examined intra- and inter-individual differences in the developmental trajectory of cortical thickness (CT) in childhood and adolescence, and their genomic underpinnings, in 33 individuals with ASD and 37 typically developing controls (aged 11-18 years). Moreover, we aimed to link regional atypical CT development to intra-individual variations in restricted and repetitive behavior (RRB) over a two-year time period. Individuals with ASD showed significantly reduced cortical thinning in several of the brain regions functionally related to wider autism symptoms and traits (e.g., fronto-temporal and cingulate cortices). The spatial patterns of the neuroanatomical differences in CT were enriched for genes known to be associated with ASD at a genetic and transcriptomic level. Further, intra-individual differences in CT correlated with within-subject variability in the severity of RRBs. Our findings represent an important step towards characterizing the neuroanatomical underpinnings of ASD across development based upon measures of CT. Moreover, our findings provide important novel insights into the link between microscopic and macroscopic pathology in ASD, as well as their relationship with different clinical ASD phenotypes.

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6. Bradley RL, Noell GH. Rule-Governed Behavior: Teaching Social Skills via Rule-Following to Children with Autism. Developmental neurorehabilitation. 2021: 1-11.

Rule-governed behavior (RGB) is behavior that is controlled by verbal descriptions of contingencies rather than by direct contact or a history of direct contact with the contingencies. Humans rely on RGB to navigate a multitude of life experiences, and in doing so, we avoid direct contact with destructive or harmful contingencies or contingencies that would be inefficient to contact. However, individuals with autism spectrum disorders (ASDs) frequently struggle with RGB, leaving them at increased risk of contacting aversive consequences. As a result, acquiring RGB can be a valuable developmental outcome for individuals with ASD. The current study examined the effectiveness of an intervention program designed to promote acquisition and generalization of rule-governed social skills in children with ASD. Multiple exemplar training (MET) resulted in increased performance of the target behavior as well as successful discrimination.

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7. Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. International journal of molecular sciences. 2021; 22(24).

Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD. The prevalence of ID/ASD is 1-3%, and approximately 30% of the patients remain without a molecular diagnosis. Considering the extreme genetic locus heterogeneity, next-generation sequencing approaches have provided powerful tools for candidate gene identification. Molecular diagnosis is crucial to improve outcome, prevent complications, and hopefully start a therapeutic approach. Here, we performed parent-offspring trio whole-exome sequencing (WES) in a cohort of 60 mostly syndromic ID/ASD patients and we detected 8 pathogenic variants in genes already known to be associated with ID/ASD (SYNGAP1, SMAD6, PACS1, SHANK3, KMT2A, KCNQ2, ACTB, and POGZ). We found four de novo disruptive variants of four novel candidate ASD/ID genes: MBP, PCDHA1, PCDH15, PDPR. We additionally selected via bioinformatic tools many variants in unknown genes that alone or in combination can contribute to the phenotype. In conclusion, our data confirm the efficacy of WES in detecting pathogenic variants of known and novel ID/ASD genes.

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8. Cantwell CY, Fortman J, Seegan A. Prazosin use in a patient with rare Neurobeachin gene deletion shows improvement in paranoid behavior: a case report. Journal of medical case reports. 2021; 15(1): 612.

BACKGROUND: Disruption of the Neurobeachin gene is a rare genetic mutation that has been implicated in the development of autism and enhanced long-term potentiation of the hippocampal CA1 region, causing a heightened conditioned fear response and impaired fear extinction. Prazosin, an alpha-1 receptor antagonist, has been used in patients with posttraumatic stress disorder to mitigate the increased alpha-1 activity involved in fear and startle responses. Here we report a case of a patient with a rare Neurobeachin gene deletion, who demonstrated marked and sustained improvement in paranoid behavior within days of prazosin initiation. CASE PRESENTATION: The patient is a 27-year-old White male with autism spectrum disorder, obsessive-compulsive disorder, and schizophrenia, with a chromosome 13q12 deletion including deletion of the Neurobeachin gene, who presented to the emergency department due to worsening functional status and profound weight loss as a result of only eating prepackaged foods. He had not showered or changed clothes in several months prior to presentation. He was hospitalized in the inpatient psychiatric unit for 2 months before prazosin was initiated. During that time, he demonstrated paranoia as evidenced by heightened sensitivity to doors opening, guarded interactions, and limited communication with providers and other patients. He also exhibited poor grooming habits, with aversion to showering, shaving, and changing clothes. Since initiating prazosin, he has demonstrated a brighter affect, initiates and maintains conversations, showers and changes clothes on a regular basis, and eats a variety of foods. At the time of this report, the patient was discharged to live in an apartment with a caregiver after a 7-month inpatient hospitalization. CONCLUSIONS: Low-dose prazosin shows rapid and sustained improvement in paranoid behavior in a patient with a rare Neurobeachin gene deletion. Prazosin has a relatively favorable side effect profile with once-daily dosing and low cost. Prazosin may provide clinical improvement in patients with Neurobeachin gene deletions due to its theoretical attenuation in fear response through alpha-1 antagonism.

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9. Casseus M, Cheng J. Variations in Healthcare Transition Preparation Among Youth With Chronic Conditions. American journal of preventive medicine. 2022; 62(5): e275-e83.

INTRODUCTION: Youth with special healthcare needs have low rates of healthcare transition services, which can affect lifelong functioning and quality of life. This study examines the variations in receipt of healthcare transition services among youth with special healthcare needs. METHODS: Data from the 2016-2018 National Survey of Children’s Health (N=102,341) were analyzed in 2021. Receipt of healthcare transition services by youth with select health conditions was compared with youth with other special healthcare needs. Bivariate and multivariable analyses assessed the associations between the receipt of healthcare transition services, sociodemographic characteristics, and health conditions. RESULTS: Among youth with special healthcare needs, the prevalence of receiving healthcare transition services was lowest among youth with speech or other language disorders (8.5%), intellectual disabilities (9.4%), and autism spectrum disorder (11.1%). Low prevalence of receiving healthcare transition services was also observed for youth with developmental delays (12.6%), learning disabilities (14.2%), and behavior or conduct problems (15.5%). Youth with developmental delays (AOR=0.70, 95% CI=0.52, 0.95), intellectual disabilities (AOR=0.45, 95% CI=0.26, 0.78), learning disabilities (AOR=0.77, 95% CI=0.60, 0.99), autism spectrum disorder (AOR=0.60, 95% CI=0.41, 0.86), and speech or other language disorders (AOR=0.48, 95% CI=0.32, 0.72) had lower odds of receiving healthcare transition services than youth with other special healthcare needs. CONCLUSIONS: Findings suggest that the receipt of healthcare transition services varies substantially by the type of chronic health condition and highlight the need for increased healthcare transition services for youth with special healthcare needs, especially for youth with neurodevelopmental disabilities and speech or other language disorders.

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10. Esposito M, Pignotti L, Mondani F, D’Errico M, Ricciardi O, Mirizzi P, Mazza M, Valenti M. Stimulus Control Procedure for Reducing Vocal Stereotypies in an Autistic Child. Children (Basel, Switzerland). 2021; 8(12).

Stereotyped vocal behavior exhibited by a seven-year-old child diagnosed with autism spectrum disorder and maintained by automatic reinforcement was placed under stimulus control through discrimination training. The training consisted of matching a green card (SD) with free access to vocal stereotypy and a red card (SD-absent) with interruption of stereotypy and vocal redirection. At the same time, appropriate behaviors were reinforced. After discrimination training, the child rarely engaged in vocal stereotypy in the red card condition and, to a greater extent, in the green card condition, demonstrating the ability to discriminate between the two different situations. After the training, the intervention began. Once they reached the latency criterion in the red stimulus condition, the child could have free access to vocal stereotypy (green card condition). The latency criterion for engaging in stereotypy was gradually increased during the red card condition and progressively decreased during the green card condition. The intervention follows a changing criterion design. This study indicates that stimulus discrimination training is a useful intervention to reduce vocal stereotypy in an autistic child.

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11. Fang K, Liu D, Pathak SS, Yang B, Li J, Karthikeyan R, Chao OY, Yang YM, Jin VX, Cao R. Disruption of Circadian Rhythms by Ambient Light during Neurodevelopment Leads to Autistic-like Molecular and Behavioral Alterations in Adult Mice. Cells. 2021; 10(12).

Although circadian rhythms are thought to be essential for maintaining body health, the effects of chronic circadian disruption during neurodevelopment remain elusive. Here, using the « Short Day » (SD) mouse model, in which an 8 h/8 h light/dark (LD) cycle was applied from embryonic day 1 to postnatal day 42, we investigated the molecular and behavioral changes after circadian disruption in mice. Adult SD mice fully entrained to the 8 h/8 h LD cycle, and the circadian oscillations of the clock proteins, PERIOD1 and PERIOD2, were disrupted in the suprachiasmatic nucleus and the hippocampus of these mice. By RNA-seq widespread changes were identified in the hippocampal transcriptome, which are functionally associated with neurodevelopment, translational control, and autism. By western blotting and immunostaining hyperactivation of the mTOR and MAPK signaling pathways and enhanced global protein synthesis were found in the hippocampi of SD mice. Electrophysiological recording uncovered enhanced excitatory, but attenuated inhibitory, synaptic transmission in the hippocampal CA1 pyramidal neurons. These functional changes at synapses were corroborated by the immature morphology of the dendritic spines in these neurons. Lastly, autistic-like animal behavioral changes, including impaired social interaction and communication, increased repetitive behaviors, and impaired novel object recognition and location memory, were found in SD mice. Together, these results demonstrate molecular, cellular, and behavioral changes in SD mice, all of which resemble autistic-like phenotypes caused by circadian rhythm disruption. The findings highlight a critical role for circadian rhythms in neurodevelopment.

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12. Feng M, Zhai M, Xu J, Ding N, Qiu N, Shao H, Jin P, Ke X. Towards-Person Vocalization Effect on Screening for Autism Spectrum Disorders in the Context of Frustration. Brain sciences. 2021; 11(12).

The purpose of this study is to investigate the vocalization characteristics of infants with autism spectrum disorder (ASD) in the context of frustration. The duration and frequency of vocalization in 48 infants with ASD and 65 infants with typical development (TD) were followed up to 24 months later for subsequent diagnosis. The typical vocalizations of infants with ASD were retrospectively analyzed, such as speech-like vocalizations, nonspeech vocalizations, vocalizations towards the person and non-social vocalizations. The results showed that, compared with the TD group, vocalizations of infants with ASD during the still-face period had lower typical vocalizations and characteristics associated with social intention, and that these characteristics were closely related to the clinical symptoms of ASD, among which vocalizations towards the person accompanied by social intention had discriminative efficacy.

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13. Foldes ST, Jensen AR, Jacobson A, Vassall S, Foldes E, Guthery A, Brown D, Levine T, Tyler WJ, Frye RE. Transdermal Electrical Neuromodulation for Anxiety and Sleep Problems in High-Functioning Autism Spectrum Disorder: Feasibility and Preliminary Findings. Journal of personalized medicine. 2021; 11(12).

BACKGROUND: Autism spectrum disorder (ASD) is associated with anxiety and sleep problems. We investigated transdermal electrical neuromodulation (TEN) of the cervical nerves in the neck as a safe, effective, comfortable and non-pharmacological therapy for decreasing anxiety and enhancing sleep quality in ASD. METHODS: In this blinded, sham-controlled study, seven adolescents and young adults with high-functioning ASD underwent five consecutive treatment days, one day of the sham followed by four days of subthreshold TEN for 20 min. Anxiety-provoking cognitive tasks were performed after the sham/TEN. Measures of autonomic nervous system activity, including saliva α-amylase and cortisol, electrodermal activity, and heart rate variability, were collected from six participants. RESULTS: Self-rated and caretaker-rated measures of anxiety were significantly improved with TEN treatment as compared to the sham, with effect sizes ranging from medium to large depending on the rating scale. Sleep scores from caretaker questionnaires also improved, but not significantly. Performance on two of the three anxiety-provoking cognitive tasks and heart rate variability significantly improved with TEN stimulation as compared to the sham. Four of the seven (57%) participants were responders, defined as a ≥ 30% improvement in self-reported anxiety. Salivary α-amylase decreased with more TEN sessions and decreased from the beginning to the end of the session on TEN days for responders. TEN was well-tolerated without significant adverse events. CONCLUSIONS: This study provides preliminary evidence that TEN is well-tolerated in individuals with ASD and can improve anxiety.

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14. Graat I, Balke S, Prinssen J, de Koning P, Vulink N, Mocking R, van Rooijen G, Munckhof PVD, Schuurman R, Denys D. Effectiveness and safety of deep brain stimulation for patients with refractory obsessive compulsive disorder and comorbid autism spectrum disorder; A case series. Journal of affective disorders. 2022; 299: 492-7.

BACKGROUND: Deep brain stimulation (DBS) is effective for patients with treatment refractory obsessive-compulsive disorder (OCD). Autism spectrum disorder (ASD) is present in up to a third of all patients with OCD, but it is unknown whether effectiveness of DBS for OCD also applies for patients with comorbid ASD. The present case series is the first to examine effectiveness on OCD symptoms and safety of DBS in patients with OCD and ASD specifically. METHODS: Six consecutive patients with treatment-refractory OCD and comorbid ASD received DBS of the ventral anterior limb of the internal capsule (vALIC) or medial forebrain bundle (MFB). We examined effectiveness of DBS on symptoms of OCD and depression with the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) and Hamilton Depression Rating Scale (HAM-D), respectively. We included qualitative data to describe the course of treatment in individual patients with OCD and ASD. RESULTS: We found that DBS significantly decreased symptoms of OCD (p < .001) and depression (p = .007). Four out of six patients with OCD and comorbid ASD were responders (decrease ≥ 35% in Y-BOCS), one patient was partial-responder (decrease 25-35% in Y-BOCS) and one patient did not respond (decrease ≤ 25% in Y-BOCS). Serious adverse events were an infection of the DBS system, and a suicide attempt. CONCLUSIONS: Though present results are preliminary, DBS reduced symptoms of OCD and depression in patients with OCD and comorbid ASD. Comorbid ASD should therefore not be seen as a contra-indication for DBS in OCD.

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15. Greco C, Romani M, Berardi A, De Vita G, Galeoto G, Giovannone F, Vigliante M, Sogos C. Morphing Task: The Emotion Recognition Process in Children with Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. International journal of environmental research and public health. 2021; 18(24).

Recognizing a person’s identity is a fundamental social ability; facial expressions, in particular, are extremely important in social cognition. Individuals affected by autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) display impairment in the recognition of emotions and, consequently, in recognizing expressions related to emotions, and even their identity. The aim of our study was to compare the performance of participants with ADHD, ASD, and typical development (TD) with regard to both accuracy and speed in the morphing task and to determine whether the use of pictures of digitized cartoon faces could significantly facilitate the process of emotion recognition in ASD patients (particularly for disgust). This study investigated the emotion recognition process through the use of dynamic pictures (human faces vs. cartoon faces) created with the morphing technique in three pediatric populations (7-12 years old): ADHD patients, ASD patients, and an age-matched control sample (TD). The Chi-square test was used to compare response latency and accuracy between the three groups in order to determine if there were statistically significant differences (p < 0.05) in the recognition of basic emotions. The results demonstrated a faster response time in neurotypical children compared to ASD and ADHD children, with ADHD participants performing better than ASD participants on the same task. The overall accuracy parameter between the ADHD and ASD groups did not significantly differ.

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16. Kanlayaprasit S, Thongkorn S, Panjabud P, Jindatip D, Hu VW, Kikkawa T, Osumi N, Sarachana T. Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex. International journal of molecular sciences. 2021; 22(24).

Bisphenol A (BPA) is an environmental risk factor for autism spectrum disorder (ASD). BPA exposure dysregulates ASD-related genes in the hippocampus and neurological functions of offspring. However, whether prenatal BPA exposure has an impact on genes in the prefrontal cortex, another brain region highly implicated in ASD, and through what mechanisms have not been investigated. Here, we demonstrated that prenatal BPA exposure disrupts the transcriptome-interactome profiles of the prefrontal cortex of neonatal rats. Interestingly, the list of BPA-responsive genes was significantly enriched with known ASD candidate genes, as well as genes that were dysregulated in the postmortem brain tissues of ASD cases from multiple independent studies. Moreover, several differentially expressed genes in the offspring’s prefrontal cortex were the targets of ASD-related transcription factors, including AR, ESR1, and RORA. The hypergeometric distribution analysis revealed that BPA may regulate the expression of such genes through these transcription factors in a sex-dependent manner. The molecular docking analysis of BPA and ASD-related transcription factors revealed novel potential targets of BPA, including RORA, SOX5, TCF4, and YY1. Our findings indicated that prenatal BPA exposure disrupts ASD-related genes in the offspring’s prefrontal cortex and may increase the risk of ASD through sex-dependent molecular mechanisms, which should be investigated further.

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17. Karnachuk OV, Ikkert OP, Avakyan MR, Knyazev YV, M NV, Zyusman VS, Panov VL, Kadnikov VV, Mardanov AV, Ravin NV. Desulfovibrio desulfuricans AY5 Isolated from a Patient with Autism Spectrum Disorder Binds Iron in Low-Soluble Greigite and Pyrite. Microorganisms. 2021; 9(12).

The sulphate-reducing bacteria (SRB) of genus Desulfovibrio are a group of prokaryotes associated with autism spectrum disorders (ASD). The connection between the elevated numbers of Desulfovibrio in the gut of children with ASD compared with healthy children remains unresolved. A conceivable consequence of SRB overgrowth in the gut is the conversion of bioavailable iron into low-soluble crystalline iron sulphides, causing iron deficiency in the organism. In this study, we report the draft genome sequence and physiological features of the first cultivable isolate from a patient with ASD, Desulfovibrio desulfuricans strain AY5.The capability of the strain to produce crystalline iron sulphides was studied under different pH conditions. The most notable greigite(Fe(3)S(4)) and pyrite (FeS(2)) formation was revealed at pH 6.0, which suggests that the iron loss due to insoluble sulphide formation may occur in the proximal part of the gastrointestinal tract. Strain AY5 was adapted to grow under nitrogen-limiting conditions by N(2) fixation. The urease found in the strain’s genome may play a role in resistance to acidic pH.

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18. Kirkland AE, Fadus MC, Gruber SA, Gray KM, Wilens TE, Squeglia LM. A scoping review of the use of cannabidiol in psychiatric disorders. Psychiatry research. 2022; 308: 114347.

Cannabidiol (CBD) has become a fast-growing avenue for research in psychiatry, and clinicians are challenged with understanding the implications of CBD for treating mental health disorders. The goal of this review is to serve as a guide for mental health professionals by providing an overview of CBD and a synthesis the current evidence within major psychiatric disorders. PubMed and PsycINFO were searched for articles containing the terms « cannabidiol » in addition to major psychiatric disorders and symptoms, yielding 2952 articles. Only randomized controlled trials or within-subject studies investigating CBD as a treatment option for psychiatric disorders (N = 16) were included in the review. Studies were reviewed for psychotic disorders (n = 6), anxiety disorders (n = 3), substance use disorders (tobacco n = 3, cannabis n = 2, opioid n = 1), and insomnia (n = 1). There were no published studies that met inclusion criteria for alcohol or stimulant use disorder, PTSD, ADHD, autism spectrum disorder, or mood disorders. Synthesis of the CBD literature indicates it is generally safe and well tolerated. The most promising preliminary findings are related to the use of CBD in psychotic symptoms and anxiety. There is currently not enough high-quality evidence to suggest the clinical use of CBD for any psychiatric disorder.

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19. Laister D, Vivanti G, Marschik PB, Fellinger J, Holzinger D. Enhancement of Social Communication Behaviors in Young Children With Autism Affects Maternal Stress. Frontiers in psychiatry. 2021; 12: 797148.

Children with autism spectrum disorder (ASD) show difficulties in social communication behaviors, emotion regulation and daily living skills, and they frequently present with challenging behaviors. In parents of children with ASD, higher rates of stress and mental health problems have been reported than in parents of either typically developing children or children with other conditions. In this study, we tested whether maternal well-being changes with improved social communicative behaviors of children with ASD receiving early intervention. We examined developmental changes in 72 pre-schoolers and stress levels in their mothers (measured by the Parental Stress Inventory) before and after a 12-month community-based intervention program based on the Early Start Denver Model, a naturalistic developmental behavioral intervention targeting social communication. Multiple regression analyses showed that maternal child-related stress was predicted by changes in children’s social communication behaviors (measured with the Pervasive Developmental Disorder Behavior Inventory). Gains in the early social communication behavior domain were the strongest predictor of post-intervention child-related maternal stress, surpassing adaptive behavior, language and non-verbal cognitive gains, and reduction in challenging behavior. These findings support the hypothesis that, in children with ASD, the acquisition of social communication behaviors contribute to improvements in maternal well-being.

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20. Li D, Xu J, Yang MQ. Gene Regulation Analysis Reveals Perturbations of Autism Spectrum Disorder during Neural System Development. Genes. 2021; 12(12).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impedes patients’ cognition, social, speech and communication skills. ASD is highly heterogeneous with a variety of etiologies and clinical manifestations. The prevalence rate of ASD increased steadily in recent years. Presently, molecular mechanisms underlying ASD occurrence and development remain to be elucidated. Here, we integrated multi-layer genomics data to investigate the transcriptome and pathway dysregulations in ASD development. The RNA sequencing (RNA-seq) expression profiles of induced pluripotent stem cells (iPSCs), neural progenitor cells (NPCs) and neuron cells from ASD and normal samples were compared in our study. We found that substantially more genes were differentially expressed in the NPCs than the iPSCs. Consistently, gene set variation analysis revealed that the activity of the known ASD pathways in NPCs and neural cells were significantly different from the iPSCs, suggesting that ASD occurred at the early stage of neural system development. We further constructed comprehensive brain- and neural-specific regulatory networks by incorporating transcription factor (TF) and gene interactions with long 5 non-coding RNA(lncRNA) and protein interactions. We then overlaid the transcriptomes of different cell types on the regulatory networks to infer the regulatory cascades. The variations of the regulatory cascades between ASD and normal samples uncovered a set of novel disease-associated genes and gene interactions, particularly highlighting the functional roles of ELF3 and the interaction between STAT1 and lncRNA ELF3-AS 1 in the disease development. These new findings extend our understanding of ASD and offer putative new therapeutic targets for further studies.

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21. Palimaru I, Guetta M, Cravero C, Fron C, Cohen D, Giannitelli M. Opioid Overdose and Serotonin Syndrome due to Gastric Bezoar in a Woman with Autism and Pica Behaviour. Case reports in psychiatry. 2021; 2021: 7334467.

We are presenting the case of a 38-year-old woman with nonverbal autism and intellectual disability, hospitalized in a neurobehavioural unit because of a pica behaviour for 3 years. During the hospitalization, the patient presented an episode of pain, agitation, restlessness, rhabdomyolysis, coma, tachycardia, hyperthermia, shivering, and diarrhoea. The main hypothesis raised was tramadol overdose because of the immediate antidote response to the injection of naloxone 0,4 mg/mL. Even if we did not exceed the recommended prescription dosage of tramadol, the presence of gastric bezoar slowed the absorption of the drug, and the consequence was an opioid overdose and serotonin syndrome.

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22. Paprocka J, Kaminiów K, Kozak S, Sztuba K, Emich-Widera E. Stem Cell Therapies for Cerebral Palsy and Autism Spectrum Disorder-A Systematic Review. Brain sciences. 2021; 11(12).

Autism spectrum disorder (ASD) and cerebral palsy (CP) are some of the most common neurodevelopmental diseases. They have multifactorial origin, which means that each case may manifest differently from the others. In patients with ASD, symptoms associated with deficits in social communication and characteristic, repetitive types of behaviors or interests are predominant, while in patients with CP, motor disability is diagnosed with accompanying cognitive impairment of various degrees. In order to minimize their adverse effects, it is necessary to promptly diagnose and incorporate appropriate management, which can significantly improve patient quality of life. One of the therapeutic possibilities is stem cell therapy, already known from other branches of medicine, with high hopes for safe and effective treatment of these diseases. Undoubtedly, in the future we will have to face the challenges that will arise due to the still existing gaps in knowledge and the heterogeneity of this group of patients. The purpose of this systematic review is to summarize briefly the latest achievements and advances in stem cell therapy for ASD and CP.

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23. Riccioni A, Pro S, Di Criscio L, Terribili M, Siracusano M, Moavero R, Valeriani M, Mazzone L. High Intellectual Potential and High Functioning Autism: Clinical and Neurophysiological Features in a Pediatric Sample. Brain sciences. 2021; 11(12).

High Intellectual Potential (HIP) and High Functioning Autism (HFA) are two different conditions sharing some clinical and neurobiological features. The aim of the present study was to characterize a sample of HIP children (n: 16; M/F: 14/2; median age: 10 years) in comparison to those with HFA (n: 17; M/F: 16/1; median age: 13 years) and to neurotypically developed (NTD) children (n: 10; M/F: 4/6; median age: 11 years) from a clinical and neurophysiological perspective. Specifically, a standardized clinical assessment of cognitive and adaptive skills, autistic symptoms, executive functions and behavioral features was performed. Moreover, event-related potentials (ERPs) were recorded, referring specifically to the mismatch negativity (MMN) and P300 paradigm. Our data highlighted the presence of similarities between the intellectually gifted individuals and the ones with autism (i.e., a nonhomogeneous intellective profile, an adaptive skills impairment, subthreshold autistic symptoms and increased perfectionism). Interestingly, a distinct neurophysiological characterization between groups came out, with evidence of a reduced MMN amplitude only in the HFA group. Furthermore, no differences within groups in the P300 component emerged. Therefore, our results start to provide a more informative characterization of the HIP phenotype in comparison to those of HFA and NTD, highlighting the potential role of the MMN amplitude index in helping clinicians and researchers to distinguish between HIP and HFA. Nevertheless, further research on the topic is strongly needed.

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24. Ronis SD, Lee E, Cuffman C, Burkhart K. Impact of Social and Relational Adversity on Access to Services among US Children with Autism Spectrum Disorder 2016-2019. Children (Basel, Switzerland). 2021; 8(12).

To explore the impact of social and relational adversity on access to key health services among US children with autism spectrum disorders (ASD), cross-sectional analyses of the 2016-2019 National Survey of Children’s Health assessed use of key health services by children with ASD, accounting for differences in demographic characteristics, medical needs, and experience of social and relational adversities. sUS children with ASD were more than twice as likely as peers without ASD to report two or more social adversities and more than three times as likely to report two or more relational adversities. In multivariable models, relational adversities were significantly associated with greater odds of medication use for ASD (OR 1.50, 95%CI:1.02, 2.17). Social adversities were neither associated with receipt of behavioral therapies nor prescription of medication to treat ASD. Screening for various forms of adversity among youth with ASD is of great importance; even one adverse experience may be enough to influence care of a child with ASD, with differences in effect according to the nature of the particular adversity. Further research should evaluate the role that childhood adversity plays in physical and mental health outcomes in ASD.

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25. Schalbroeck R, de Geus-Oei LF, Selten JP, Yaqub M, Schrantee A, van Amelsvoort T, Booij J, van Velden FHP. Cerebral [(18)F]-FDOPA Uptake in Autism Spectrum Disorder and Its Association with Autistic Traits. Diagnostics (Basel, Switzerland). 2021; 11(12).

Dopaminergic signaling is believed to be related to autistic traits. We conducted an exploratory 3,4-dihydroxy-6-[(18)F]-fluoro-L-phenylalanine positron emission tomography/computed tomography ([(18)F]-FDOPA PET/CT) study, to examine cerebral [(18)F]-FDOPA influx constant (k(i)(cer) min(-1)), reflecting predominantly striatal dopamine synthesis capacity and a mixed monoaminergic innervation in extrastriatal neurons, in 44 adults diagnosed with autism spectrum disorder (ASD) and 22 controls, aged 18 to 30 years. Autistic traits were assessed with the Autism Spectrum Quotient (AQ). Region-of-interest and voxel-based analyses showed no statistically significant differences in k(i)(cer) between autistic adults and controls. In autistic adults, striatal k(i)(cer) was significantly, negatively associated with AQ attention to detail subscale scores, although Bayesian analyses did not support this finding. In conclusion, among autistic adults, specific autistic traits can be associated with reduced striatal dopamine synthesis capacity. However, replication of this finding is necessary.

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26. Soullane S, Spence AR, Abenhaim HA. Association of placental pathology and gross morphology with autism spectrum disorders. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 531-8.

This study evaluated the association between placental pathology and gross morphology and the risk of autism spectrum disorders (ASD). We conducted a matched case-control study of children with confirmed ASD who were born between 2000 and 2017 at one of three university-affiliated hospitals in Montreal, Quebec. Cases, who were identified through the Montreal Children’s Hospital Autism Spectrum Disorders Program, were matched to babies (1:5) born at the same hospital and on the same day. Multi-fetal births were excluded. Maternal demographics, pregnancy characteristics and placental pathologies were collected from hospital charts by abstractors blind to autism diagnoses. This current study consisted of data from a single-site that had pathology reports available. Pearson chi-square and Wilcoxon rank-sum tests were used to estimate p-values. Our study consisted of 107 ASD cases and 526 matched controls. Mothers of cases and controls were similar in terms of parity, gravidity, smoking status, BMI, rates of clinical chorioamnionitis, chronic hypertension, and gestational diabetes. Age at delivery of <25 years was more common among mothers of controls. Compared with controls, cases were more likely born male, <32 weeks of gestation, and weighing <1500 g. Cases and controls had similar rates of placental inflammation, vasculitis, and other placental pathologies. There were no differences in placental weight, placental thickness, umbilical cord length, and umbilical cord insertion between the two groups. In conclusion, placental pathology and gross morphology do not appear to be associated with ASD, suggesting that any perinatal determinants of autism are not likely to be mediated through placental pathology. LAY SUMMARY: Data from a matched case-control study consisting of neonates born between 2000 and 2017 at one of three McGill-affiliated hospitals were used to examine the relationship between placental pathology and morphology and the development of autism. No differences in placental pathology and gross morphology were found between those with and without autism, which suggests that placental abnormalities are unlikely to either cause or mediate the development of autism.

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27. Swiezy N, Smith T, Johnson CR, Bearss K, Lecavalier L, Drill R, Warner D, Deng Y, Xu Y, Dziura J, Handen B, Scahill L. Direct observation in a large-scale randomized trial of parent training in children with autism spectrum disorder and disruptive behavior. Research in autism spectrum disorders. 2021; 89.

A direct observation strategy (Standardized Observation Analogue Procedure, SOAP) was used in a large-scale randomized trial of parent training versus parent education in young children with autism spectrum disorder (ASD) and disruptive behavior. The 16-minute SOAP, modified from an earlier version of this same measure, included parentchild interaction to assess child behavior in a clinical laboratory setting. Despite study entry criteria for all child participants requiring moderate levels of disruptive behavior in this project, 126 of 168 children with complete SOAP data at baseline showed no disruptive behavior on this measure. Although the primary purpose of the study was to determine whether the SOAP could detect differences between the two conditions (i.e.,parent training (PT) and parent education (PE)), baseline observation data was not consistent with parent ratings at baseline or subsequent follow up visits, leaving little room to demonstrate improvement with this observation measure. This and the challenging, time-consuming and resource intensive effort involved in using such a measure in a large randomized scale trial, raises fundamental questions about the validity of the SOAP as an outcome measure in such a study. Further consideration related to the feasibility and practicality of using direct observation as a primary measure in larger scale efforts overall are also discussed.

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28. Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D, Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M, Chiurazzi P, Zollino M. Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Genes. 2021; 12(12).

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases of FXS co-segregation with three different genetic conditions, consisting of Duchenne muscular dystrophy (DMD), PPP2R5D–related neurodevelopmental disorder, and 2p25.3 deletion. The co-occurrence of DMD and FXS has been reported only once in a young boy, while in an independent family two affected boys were described, the elder diagnosed with FXS and the younger with DMD. This represents the second case in which both conditions coexist in a 5-year-old boy, inherited from his heterozygous mother. The next double diagnosis had never been reported before: through exome sequencing, a girl with FXS who was of 7 years of age with macrocephaly and severe psychomotor delay was found to carry a de novo variant in the PPP2R5D gene. Finally, a maternally inherited 2p25.3 deletion associated with a decreased level of the MYT1L transcript, only in the patient, was observed in a 33-year-old FXS male with severe seizures compared to his mother and two sex- and age-matched controls. All of these patients represent very rare instances of genetic conditions with clinical features that can be modified by FXS and vice versa.

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29. Zhang Y, Wu T. [Relationship between serum folic acid and 25(OH)D levels and intelligence and core symptoms in children with autism]. Wei sheng yan jiu = Journal of hygiene research. 2021; 50(6): 957-61.

OBJECTIVE: To study the relationship between folic acid and 25-hydroxy vitamin D[25(OH)D] and intelligence and core symptoms in children with autism. METHODS: A total of 124 children with autism aged 3-6 years who were admitted to The Fouth Affiliated Hospital of Qiqihar Medical College from March 2018 to March 2021 were enrolled as the case group, and 120 healthy children who underwent physical examination in hospital during the same period were selected as the control group. Respectively in the hospital the same day or physical examination on two groups of children fasting venous blood collected 4 mL, let stand centrifugal after processing into-80 ℃ refrigerator, using chemiluminescence immunoassay and high performance liquid chromatography tandem mass spectrometry detection of two groups of children folic acid and serum 25(OH)D level, using enzyme-linked immunosorbent method to detect the serum level of folic acid metabolites. For the children in the case group and the control group, the Wechsler scale for early childhood and child intelligence(WISC) was used to assess intelligence. Core symptoms of autism were assessed using the behavior scale for autistic children(ABC). T test was used to compare serum folic acid and 25(OH)D levels, WISC and ABC scale scores between the case group and the control group. Pearson correlation analysis was conducted to determine the relationship between serum folic acid, 25(OH)D level and intelligence and core symptoms in children with autism. RESULTS: The serum folic acid and 25(OH)D levels in the case group were(16.13±4.26) ng/mL and(25.78±3.24) ng/mL respectively, which were lower than those in the control group(21.58±5.37) ng/mL and(36.94±6.11) ng/mL, with statistical significance(all P<0.05). The WISC scale score of the case group was(62.83±11.73) points, lower than that of the control group(89.42±12.58) points, while the ABC scale score was(77.39±10.28) points, higher than that of the control group(42.30±5.87) points, with statistical significance(all P<0.05). Pearson correlation analysis showed that serum folic acid and 25(OH)D levels were positively correlated with WISC score(r=0.512, 0.584; P=0.012, 0.001), and was negatively correlated with ABC scale score(r=-0.546, -0.602; P=0.008, <0.001). The serum THFA and 5-MTHF levels in the case group were(3.85±1.22) ng/mL and(4.84±1.32) ng/mL respectively, which were lower than those in the control group(4.30±1.51) ng/mL and(5.34±1.34) ng/mL respectively. The serum FRAA level was(433.29±74.34) pg/mL, higher than that of the control group(402.10±65.87) pg/mL, with statistical significance(all P<0.05). CONCLUSION: The serum folic acid and 25(OH)D levels are lower in children with autism, and are closely related to the intelligence and core symptoms of the children, that is, with the decline of the two serological indicators, the lower the intelligence of children with autism, and the more obvious the core symptoms.

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30. Zhao M, You Y, Chen S, Li L, Du X, Wang Y. Effects of a Web-Based Parent-Child Physical Activity Program on Mental Health in Parents of Children with ASD. International journal of environmental research and public health. 2021; 18(24).

Parents of children with ASD experience a higher incidence of mental health difficulties, including stress, depression, and anxiety, than parents of children without ASD. According to studies related to ASD, parent-child physical activity programs are an effective approach to encourage both parents and their children with ASD to exercise together, thus improving the mental health of parents due to this interactive family activity. The purpose of the present study was to explore the effects of this web-based parent-child physical activity program on the mental health of parents of children with ASD. A total of 94 parent-child pairs consented to participate in this study, and 75 parent-child pairs completed the study. Three instruments-DASS-21, PSI-4-SF, and WHOQOL-26-were used to measure mental health, parental stress, and quality of life, respectively. A randomized controlled trial design was implemented to examine the effectiveness of the 10-week web-based parent-child physical activity program on improving the mental health of parents of children with ASD. The results showed that after the 10-week parent-child physical activity program, there were significant differences in overall DASS-21 and PSI-4-SF for the experimental group, compared with control group (p < 0.05), which indicated that the parent-child physical activity program has a positive influence on mental health in parents of children with ASD. One sub-area of WHOQOL-26 between the experimental and control groups across pre-/post-testing intervals also showed greater reductions in the item of psychological health (p < 0.05). In conclusion, the findings demonstrated the efficacy of the web-based parent-child physical activity program for improving mental health in parents of children with ASD.

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