1. Amoretti MC, Lalumera E, Serpico D. The DSM-5 introduction of the Social (Pragmatic) Communication Disorder as a new mental disorder: a philosophical review. History and philosophy of the life sciences. 2021; 43(4): 108.

The latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) included the Social (Pragmatic) Communication Disorder (SPCD) as a new mental disorder characterized by deficits in pragmatic abilities. Although the introduction of SPCD in the psychiatry nosography depended on a variety of reasons-including bridging a nosological gap in the macro-category of Communication Disorders-in the last few years researchers have identified major issues in such revision. For instance, the symptomatology of SPCD is notably close to that of (some forms of) Autism Spectrum Disorder (ASD). This opens up the possibility that individuals with very similar symptoms can be diagnosed differently (with either ASD or SPCD) and receive different clinical treatments and social support. The aim of this paper is to review recent debates on SPCD, particularly as regards its independence from ASD. In the first part, we outline the major aspects of the DSM-5 nosological revision involving ASD and SPCD. In the second part, we focus on the validity and reliability of SPCD. First, we analyze literature on three potential validators of SPCD, i.e., etiology, response to treatment, and measurability. Then, we turn to reliability issues connected with the introduction of the grandfather clause and the use of the concepts of spectrum and threshold in the definition of ASD. In the conclusion, we evaluate whether SPCD could play any role in contemporary psychiatry other than that of an independent mental disorder and discuss the role that non-epistemic factors could play in the delineation of the future psychiatry nosography.

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2. Angeletos Chrysaitis N, Jardri R, Denève S, Seriès P. No increased circular inference in adults with high levels of autistic traits or autism. PLoS computational biology. 2021; 17(9): e1009006.

Autism spectrum disorders have been proposed to arise from impairments in the probabilistic integration of prior knowledge with sensory inputs. Circular inference is one such possible impairment, in which excitation-to-inhibition imbalances in the cerebral cortex cause the reverberation and amplification of prior beliefs and sensory information. Recent empirical work has associated circular inference with the clinical dimensions of schizophrenia. Inhibition impairments have also been observed in autism, suggesting that signal reverberation might be present in that condition as well. In this study, we collected data from 21 participants with self-reported diagnoses of autism spectrum disorders and 155 participants with a broad range of autistic traits in an online probabilistic decision-making task (the fisher task). We used previously established Bayesian models to investigate possible associations between autistic traits or autism and circular inference. There was no correlation between prior or likelihood reverberation and autistic traits across the whole sample. Similarly, no differences in any of the circular inference model parameters were found between autistic participants and those with no diagnosis. Furthermore, participants incorporated information from both priors and likelihoods in their decisions, with no relationship between their weights and psychiatric traits, contrary to what common theories for both autism and schizophrenia would suggest. These findings suggest that there is no increased signal reverberation in autism, despite the known presence of excitation-to-inhibition imbalances. They can be used to further contrast and refine the Bayesian theories of schizophrenia and autism, revealing a divergence in the computational mechanisms underlying the two conditions.

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3. Asgari M, Chen L, Fombonne E. Quantifying Voice Characteristics for Detecting Autism. Frontiers in psychology. 2021; 12: 665096.

The presence of prosodic anomalies in autistic is recognized by experienced clinicians but their quantitative analysis is a cumbersome task beyond the scope of typical pen and pencil assessment. This paper proposes an automatic approach allowing to tease apart various aspects of prosodic abnormalities and to translate them into fine-grained, automated, and quantifiable measurements. Using a harmonic model (HM) of voiced signal, we isolated the harmonic content of speech and computed a set of quantities related to harmonic content. Employing these measures, along with standard speech measures such as loudness, we successfully trained machine learning models for distinguishing individuals with autism from those with typical development (TD). We evaluated our models empirically on a task of detecting autism on a sample of 118 youth (90 diagnosed with autism and 28 controls; mean age: 10.9 years) and demonstrated that these models perform significantly better than a chance model. Voice and speech analyses could be incorporated as novel outcome measures for treatment research and used for early detection of autism in preverbal infants or toddlers at risk of autism.

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4. Chung C, Shin W, Kim E. Early and Late Corrections in Mouse Models of Autism Spectrum Disorder. Biological psychiatry. 2021.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and repetitive symptoms. A key feature of ASD is early-life manifestations of symptoms, indicative of early pathophysiological mechanisms. In mouse models of ASD, increasing evidence indicates that there are early pathophysiological mechanisms that can be corrected early to prevent phenotypic defects in adults, overcoming the disadvantage of the short-lasting effects that characterize adult-initiated treatments. In addition, the results from gene restorations indicate that ASD-related phenotypes can be rescued in some cases even after the brain has fully matured. These results suggest that we need to consider both temporal and mechanistic aspects in studies of ASD models and carefully compare genetic and nongenetic corrections. Here, we summarize the early and late corrections in mouse models of ASD by genetic and pharmacological interventions and discuss how to better integrate these results to ensure efficient and long-lasting corrections for eventual clinical translation.

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5. Holingue C, Jang Y, Azad G, Landa R. Key stakeholder perspectives on obstacles to an autism-specific Medicaid waiver service delivery model. Journal of applied research in intellectual disabilities : JARID. 2022; 35(1): 205-16.

BACKGROUND: Children and youth with autism spectrum disorder have significant, multi-system needs that require supports, such as the autism waiver (AW) service delivery model. This study aimed to identify and describe characteristics of the AW, define obstacles and strengths in the provision of adequate services and provide recommendations for improving overall effectiveness. METHODS: This mixed-methods exploratory study used an electronic survey to gain information and perceptions of AW provider agency directors (n = 27) and service coordinators (n = 30). RESULTS: The key barriers reported were the shortage of qualified staff, inadequate staff training, complexity of cases or symptom severity of clients and lack of communication at multiple levels throughout the agency as well as with parents. CONCLUSIONS: Recommendations include reinforcing the workforce through higher salaries, greater training and communication interventions. These strategies may reduce staff turnover and shortage, lighten the caseload, reduce the waitlist period and improve the effectiveness and responsiveness of AW services.

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6. Khan M, Brown HK, Lunsky Y, Welsh K, Havercamp SM, Proulx L, Tarasoff LA. A Socio-Ecological Approach to Understanding the Perinatal Care Experiences of People with Intellectual and/or Developmental Disabilities in Ontario, Canada. Women’s health issues : official publication of the Jacobs Institute of Women’s Health. 2021; 31(6): 550-9.

BACKGROUND: Accessible and quality care during the perinatal period is critical for optimal maternal and neonatal health. Using the socio-ecological model, the purpose of this study was to explore barriers and facilitators that shape the perinatal care experiences of people with intellectual and/or developmental disabilities (IDD). METHODS: Semi-structured interviews were conducted with 10 individuals with IDD in Ontario, Canada, who had given birth within the past 5 years. Interviews focused on care experiences before, during, and after pregnancy. Data were analyzed using a directed content analysis approach, and the socio-ecological model guided analysis. RESULTS: Barriers at the societal (e.g., cultural norms of motherhood), policy/institutional (e.g., child protection policies and practices), interpersonal (e.g., inadequate formal and informal support), and intrapersonal levels (e.g., internalized stigma) contributed to participants having negative perinatal care experiences. Conversely, we identified facilitators on the interpersonal level (e.g., positive interactions with perinatal care providers and familial and social service supports) as positively shaping participants’ perinatal care experiences. CONCLUSIONS: Findings reveal that the perinatal care experiences of people with IDD are shaped by several interrelated factors that largely stem from societal-level barriers, such as dominant (stigmatizing) discourses of disability. To improve the perinatal care experiences of people with IDD, there is a need for interventions at multiple levels. These include the development of policies to support perinatal care for diverse populations and training care providers to enact policies at the institutional and interpersonal levels.

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7. Kim KN, Yoo SM, Kang S, Kim HJ, Yun J, Lee JY. Mortality of Children with Autism Spectrum Disorder Using Data from a Large-Scale Korean National Cohort. Yonsei medical journal. 2021; 62(10): 943-7.

PURPOSE: This study aimed to investigate the association between autism spectrum disorder (ASD) diagnosis and mortality among children using the data from a large-scale national cohort of Korean infants and children. We also explored the association between hearing impairment detected during early infancy and mortality. MATERIALS AND METHODS: We performed a retrospective cohort study using the nationwide claims data of the Republic of Korea. Children born between 2007 and 2014 (n=3598904) were followed up until 2020. Cox proportional hazard models were used to examine the association between ASD diagnosis and mortality among children. Then, in order to evaluate the association between hearing impairment and mortality, Cox proportional hazard models were built using the responses related to hearing impairment asked during the first health screening (at age 4-6 months). RESULTS: Of the 3598904 children born between 2007 and 2014, 32878 children (0.9%) were diagnosed with ASD until the end of 2020. We identified that ASD diagnosis was associated with higher mortality among children [hazard ratio (HR)=2.5, 95% confidence interval (CI): 2.2-2.9]. This association was stronger among girls (HR=4.8, 95% CI: 3.9-5.8) compared to boys (HR=1.9, 95% CI: 1.6-2.2). We found that hearing impairment detected during infancy was associated with higher mortality among children with ASD diagnosis. CONCLUSION: ASD diagnosis was associated with higher mortality among Korean children. This association was stronger in girls than in boys. Hearing impairment detected during infancy was also associated with higher mortality among children diagnosed with ASD.

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8. Komatsu H, Ono T, Onoguchi G, Tomita H, Kakuto Y. Mediating effects of self-stigma and depression on the association between autistic symptoms and recovery in patients with schizophrenia-spectrum disorders: a cross-sectional study. BMC psychiatry. 2021; 21(1): 464.

BACKGROUND: Several studies have indicated that self-stigma is associated with depressive symptoms and could be a barrier to recovery in patients with schizophrenia-spectrum disorders. More recently, an association between autistic symptoms and self-stigma was found in schizophrenia-spectrum patients. This study aimed to investigate the association between self-stigma, autistic and depressive symptoms, and recovery in patients with schizophrenia. METHODS: In total, 105 participants were evaluated using the Autism Spectrum Quotient, the Internalized Stigma of Mental Illness Scale, the Quick Inventory of Depressive Symptomatology, and the Recovery Assessment Scale to investigate autistic symptoms, self-stigma, depressive symptoms, and recovery, respectively. The relationship between self-stigma, autistic symptoms, depressive symptoms, and recovery was assessed using structural equation modeling analysis. RESULTS: Impaired attention switching, one symptom of autism, was found to positively affect stereotype endorsement, which negatively influenced recovery through depressive symptoms. Moreover, problems with communication skills negatively affected recovery through depressive symptoms. Concerning self-stigma, stereotype endorsement and perceived discrimination had a negative effect on recovery through depressive symptoms, whereas stigma resistance had a direct negative effect on recovery. CONCLUSIONS: This study may provide meaningful insight into the psychological structure of recovery and could inform effective interventions for patients with schizophrenia-spectrum disorders. This was a cross-sectionally designed study; therefore, further longitudinal studies are needed to identify the causal relationships between self-stigma, autistic and depressive symptoms, and recovery.

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9. Lee ASE, Ji Y, Raghavan R, Wang G, Hong X, Pearson C, Mirolli G, Bind E, Steffens A, Mukherjee J, Haltmeier D, Fan ZT, Wang X. Maternal prenatal selenium levels and child risk of neurodevelopmental disorders: A prospective birth cohort study. Autism research : official journal of the International Society for Autism Research. 2021; 14(12): 2533-43.

Selenium (Se) is an essential trace element involved in various biological processes, including neurodevelopment. Available literature indicates that both Se deficiency and excess may be detrimental to health. It is also known that Se can cross the placenta from maternal to fetal circulation. To date, the role of maternal Se status in child long-term neurodevelopment is largely unexplored. This study investigated the temporal and dose-response associations between maternal Se status and child risk of neurodevelopmental disorders including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). It consisted of 1550 mother-infant dyads from the Boston Birth Cohort. Maternal red blood cell (RBC) Se levels were measured in samples collected within 72 h of delivery (biomarker of third trimester Se status). Pediatric neurodevelopmental diagnoses were obtained from electronic medical records. Data analyses showed that maternal RBC Se levels were positively associated with child risk of developing ASD, with an adjusted odds ratio of 1.49 for ASD (95% CI: 1.09, 2.02) per IQR increase in Se. There was also a positive association between maternal Se and ADHD (OR: 1.29; 95% CI: 1.04, 1.56, per IQR increase in Se). These associations remained robust even after adjusting for pertinent covariables; and there was no significant interaction between Se and these covariables. Our findings suggest that prenatal exposure to high maternal Se levels may adversely affect child neurodevelopment. Our findings warrant further investigation; if confirmed, optimizing maternal prenatal Se levels may be necessary to maximize its health benefits while preventing undue risk. LAY SUMMARY: Selenium (Se) is an essential nutrient for the health of the pregnant mother and her baby. While Se can readily cross the placenta from maternal to fetal circulation, little is known about maternal Se status on her child’s neurodevelopmental outcomes. We studied over 1500 mother-child dyads from birth to school age of the child. We found that babies born from mothers with high blood Se levels may be at increased risk of developing autism spectrum disorder or attention deficit hyperactivity disorder. Given this is the first study of the kind, more study is needed to confirm our findings.

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10. Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Human molecular genetics. 2022; 31(4): 625-37.

Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute to the wide spectrum of features. Here, we report results of genotype-phenotype associations in a cohort of 170 individuals with PMS. Genotypes were defined as Class I deletions (including SHANK3 only or SHANK3 with ARSA and/or ACR and RABL2B), Class II deletions (all other deletions) or sequence variants. Phenotype data were derived prospectively from direct evaluation, caregiver interview and questionnaires, and medical history. Analyses revealed individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability compared to those with Class II deletions but had more skill regressions. Individuals with Class II deletions were more likely to have a variety of medical features, including renal abnormalities, spine abnormalities, and ataxic gait. Those with Class I deletions or sequence variants were more likely to have psychiatric diagnoses including bipolar disorder, depression, and schizophrenia. Autism spectrum disorder diagnoses did not differ between groups. This study represents the largest and most rigorous genotype-phenotype analysis in PMS to date and provides important information for considering clinical functioning, trajectories and comorbidities as a function of specific genetic alteration.

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11. Long KA, Chevalier L, Chu A, Guthrie KM, Kao B, Plante W, Lobato D. Cultural Influences on Sibling Relationships, Roles, and Self-Concept in the Context of Autism: Perspectives of Latino/a/x and non-Latino/a/x Siblings. Journal of autism and developmental disorders. 2021.

Siblings describe positive and negative aspects of autism and often assume lifelong support roles. Less is known about cultural influences on sibling relationships. This qualitative study characterizes processes linking siblings’ autism conceptualizations, sibling relationships, and self-concept using a multicultural framework. Siblings (12 Latino/a/x, 9 non-Latino/a/x white) participated. Data were stratified by ethnicity and analyzed using applied thematic analysis. Latino/a/x and non-Latino/a/x siblings described processes linking autism, relationships, and self-concept differently. Latino/a/x siblings emphasized family roles and identified as caregivers and protectors. Non-Latino/a/x siblings emphasized general sensitivity toward individuals who differed from themselves. Findings may reflect cultural differences in familism, caregiving expectations, and autism conceptualizations, thereby illuminating foundations of siblings’ lifelong caregiving roles and highlighting the importance of culturally-sensitive, family-centered care.

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12. Namuli JD, Nakimuli-Mpungu E, Mwesiga EK, Joyce NS. Knowledge Gaps about Autism Spectrum Disorders and its Clinical Management among Child and Adolescent Health Care Workers in Uganda: A Cross-Sectional Study. EC psychology and psychiatry. 2020; 9(9): 112-21.

BACKGROUND: There is limited literature on the knowledge about Autism Spectrum Disorder (ASD) among child and adolescent health professionals from resource limited settings. METHODS: 40 child and adolescent health professionals were purposively sampled from the two national referral hospitals in Uganda. Participants completed a standardized questionnaire that collected data on socio-demographic characteristics, the Knowledge about Childhood Autism among Health Workers (KCAHW) and the challenges related to diagnosing and managing ASD. General linear model with the Poisson regression was used to evaluate bivariate and multivariate factors associated with limited knowledge about ASD. RESULTS: The study participation rate was 90% with the majority being females (N = 21, 58%). Also, most (N = 20, 55.6%) were mental health professionals working at the Butabika pediatric out-patient clinic while (N = 16, 44.4%) were pediatric health professionals working at the Mulago mental and neurological pediatric clinics. The mean score on KCAHW was 11.8 (SD = 3.75). The participants (36.1%) who scored below the mean score were regarded as having limited knowledge about ASD. Health workers with limited knowledge about ASD (KCAHW score < 11.8) were less likely to have a degree [adjusted Prevalence rate ratio (aPRR) = 0.26, 95%CI = 0.08 to 0.78, p-value = 0.018. Mental health and Non-mental health workers had comparable KCAHW mean scores. Clinical Psychologists, Psychiatrists, psychiatry residents and pediatric nurses had the highest KCAHW scores while psychiatric nurses and medical social workers had the lowest scores. CONCLUSION: The proportion of child and adolescent health professionals with limited knowledge about ASD is substantial. There is urgent need to increase focus on training in autism spectrum disorders especially among non-specialist health workers.

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13. Patterson G, Cummings KK, Jung J, Okada NJ, Tottenham N, Bookheimer SY, Dapretto M, Green SA. Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study. Journal of neurodevelopmental disorders. 2021; 13(1): 42.

BACKGROUND: Social interaction often occurs in noisy environments with many extraneous sensory stimuli. This is especially relevant for youth with autism spectrum disorders (ASD) who commonly experience sensory over-responsivity (SOR) in addition to social challenges. However, the relationship between SOR and social difficulties is still poorly understood and thus rarely addressed in interventions. This study investigated the effect of auditory sensory distracters on neural processing of emotion identification in youth with ASD and the effects of increasing attention to social cues by priming participants with their own emotional faces. METHODS: While undergoing functional magnetic resonance imaging (fMRI), 30 youth with ASD and 24 typically developing (TD) age-matched controls (ages 8-17 years) identified faces as happy or angry with and without simultaneously hearing aversive environmental noises. Halfway through the task, participants also viewed videos of their own emotional faces. The relationship between parent-rated auditory SOR and brain responses during the task was also examined. RESULTS: Despite showing comparable behavioral performance on the task, ASD and TD youth demonstrated distinct patterns of neural activity. Compared to TD, ASD youth showed greater increases in amygdala, insula, and primary sensory regions when identifying emotions with noises compared to no sounds. After viewing videos of their own emotion faces, ASD youth showed greater increases in medial prefrontal cortex activation compared to TD youth. Within ASD youth, lower SOR was associated with reduced increased activity in subcortical regions after the prime and greater increased activity in the ventromedial prefrontal cortex after the prime, particularly in trials with noises. CONCLUSIONS: The results suggest that the sensory environment plays an important role in how ASD youth process social information. Additionally, we demonstrated that increasing attention to relevant social cues helps ASD youth engage frontal regions involved in higher-order social cognition, a mechanism that could be targeted in interventions. Importantly, the effect of the intervention may depend on individual differences in SOR, supporting the importance of pre-screening youth for sensory challenges prior to social interventions.

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14. Peters BC, Wood W, Hepburn S, Moody EJ. Preliminary Efficacy of Occupational Therapy in an Equine Environment for Youth with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

The purpose of this study was to identify appropriate outcome measures and assess preliminary efficacy of occupational therapy in an equine environment (OT(ee) HORSPLAY) for youth with autism spectrum disorder (ASD). Twenty-four youth with ASD aged 6-13 were randomized to 10 weeks of OT(ee) HORSPLAY or to a waitlist control condition, occupational therapy in a garden. Youth demonstrated significantly improved goal attainment and social motivation, and decreased irritability after OT(ee) HORSPLAY. When compared to the subset of participants who completed the waitlist control condition, the OT(ee) HORSPLAY group still demonstrated significant improvements in goal attainment. This study provides preliminary evidence that horses can be integrated into occupational therapy for youth with ASD to improve social and behavioral goals.

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15. Schmitt LM, Sweeney JA, Erickson CA, Shaffer R. Brief Report: Feasibility of the Probabilistic Reversal Learning Task as an Outcome Measure in an Intervention Trial for Individuals with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021: 1-9.

Cognitive flexibility deficits are a hallmark feature of autism spectrum disorder (ASD), but few evidence-based behavioral interventions have successfully addressed this treatment target. Outcome measurement selection may help account for previous findings. The probabilistic reversal learning task (PRL) is a measure of cognitive flexibility previously validated for use in ASD, but its use as an outcome measure has not yet been assessed. The current study examined the feasibility, reproducibility, and sensitivity of PRL in a within-subjects trial of Regulating Together, a group-based intervention targeting emotion regulation. We demonstrated the PRL is highly feasible, showed test-retest reproducibility, and is sensitive to detect change following the intervention. Our findings demonstrate the PRL task may be a useful outcome measure of cognitive flexibility in future intervention trials in ASD.

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16. Urushiyama D, Ohnishi E, Suda W, Kurakazu M, Kiyoshima C, Hirakawa T, Miyata K, Yotsumoto F, Nabeshima K, Setoue T, Nagamitsu S, Hattori M, Hata K, Miyamoto S. Vaginal microbiome as a tool for prediction of chorioamnionitis in preterm labor: a pilot study. Scientific reports. 2021; 11(1): 18971.

Intra-amniotic infection (IAI) is a major cause of preterm birth with a poor perinatal prognosis. We aimed to determine whether analyzing vaginal microbiota can evaluate the risk of chorioamnionitis (CAM) in preterm labor cases. Vaginal discharge samples were collected from 83 pregnant women admitted for preterm labor. Based on Blanc’s classification, the participants were divided into CAM (stage ≥ II; n = 46) and non-CAM (stage ≤ I; n = 37) groups. The 16S rDNA amplicons (V1-V2) from vaginal samples were sequenced and analyzed. Using a random forest algorithm, the bacterial species associated with CAM were identified, and a predictive CAM (PCAM) scoring method was developed. The α diversity was significantly higher in the CAM than in the non-CAM group (P < 0.001). The area under the curve was 0.849 (95% confidence interval 0.765-0.934) using the PCAM score. Among patients at < 35 weeks of gestation, the PCAM group (n = 22) had a significantly shorter extended gestational period than the non-PCAM group (n = 25; P = 0.022). Multivariate analysis revealed a significant difference in the frequency of developmental disorders in 3-year-old infants (PCAM, 28%, non-PCAM, 4%; P = 0.022). Analyzing vaginal microbiota can evaluate the risk of IAI. Future studies should establish appropriate interventions for IAI high-risk patients to improve perinatal prognosis.

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