1. Becerra-Culqui TA, Getahun D, Chiu V, Sy LS, Tseng HF. Prenatal influenza vaccination or influenza infection and autism spectrum disorder in offspring. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2022.

BACKGROUND: As prenatal vaccinations continue to be given more frequently, it is important to assess long-term safety events. This study investigates the association between prenatal influenza vaccination or infection and autism spectrum disorder (ASD) risk in offspring. METHODS: Retrospective cohort study of mother-child pairs with deliveries 1/1/2011-12/31/2014 at Kaiser Permanente Southern California was performed. Children >1 year were followed through 12/31/2018. Maternal influenza vaccination or infection during pregnancy was obtained from electronic health records. ASD was defined by International Classification of Diseases, 9th/10th Revision codes after age 1 year. Cox proportional hazards models estimated the crude and inverse probability of treatment weighted (IPTW) hazard ratios (HR) for the association between maternal influenza vaccination or infection and ASD. RESULTS: There were 84,739 mother-child pairs included in the final analytic sample. Maternal vaccination coverage increased slightly over time, from 52.7% for 2011 births to 59.6% for 2014 births. Of the 46,257 women vaccinated, 32.4% were vaccinated during the 1 st trimester, 41.8% during the 2 nd trimester, and 25.8% during the 3 rd trimester. ASD was diagnosed in 1,930 (2.3%) children. The IPTW analyses showed no association between prenatal influenza vaccination or infection and ASD in offspring (HR: 1.04, 95% confidence interval [CI]: 0.95, 1.13; HR: 1.12, 95% CI: 0.66, 1.89, respectively). CONCLUSIONS: Prenatal influenza vaccination or infection was not associated with ASD risk in offspring. The findings support recommendations to vaccinate pregnant women to protect themselves and their infants, both of whom are vulnerable to severe morbidity following infection.

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2. Bruno N, Richardson A, Kauffeldt KD, Tomasone JR, Arbour-Nicitopoulos K, Latimer-Cheung AE. Exploring experiential elements, strategies and outcomes of quality participation for children with intellectual and developmental disabilities: A systematic scoping review. Journal of applied research in intellectual disabilities : JARID. 2022; 35(3): 691-718.

OBJECTIVE: Quality participation, defined as satisfying and enjoyable involvement, is one of the most valued life outcomes for children with intellectual and developmental disabilities. To broaden understandings of quality participation, our review explored participation experiences of children with intellectual and developmental disabilities. METHOD: Utilising an established systematic scoping review methodology, data were collected using three search tools (peer-reviewed databases, grey literature databases and Google). Inclusion criteria required that children with intellectual and developmental disabilities and/or their proxies provided descriptions of quality participation experiences in any life domain. RESULTS: A total of 35 articles met the inclusion criteria. Quality participation strategies (30 total) and outcomes (8 total) were categorised according to six experiential elements (autonomy, belongingness, challenge, engagement, mastery and meaning). CONCLUSION: Findings provide novel insight for building quality experiences across current and future participation initiatives.

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3. Caporale N, Leemans M, Birgersson L, Germain PL, Cheroni C, Borbély G, Engdahl E, Lindh C, Bressan RB, Cavallo F, Chorev NE, D’Agostino GA, Pollard SM, Rigoli MT, Tenderini E, Tobon AL, Trattaro S, Troglio F, Zanella M, Bergman Å, Damdimopoulou P, Jönsson M, Kiess W, Kitraki E, Kiviranta H, Nånberg E, Öberg M, Rantakokko P, Rudén C, Söder O, Bornehag CG, Demeneix B, Fini JB, Gennings C, Rüegg J, Sturve J, Testa G. From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures. Science (New York, NY). 2022; 375(6582): eabe8244.

Convergent evidence associates exposure to endocrine disrupting chemicals (EDCs) with major human diseases, even at regulation-compliant concentrations. This might be because humans are exposed to EDC mixtures, whereas chemical regulation is based on a risk assessment of individual compounds. Here, we developed a mixture-centered risk assessment strategy that integrates epidemiological and experimental evidence. We identified that exposure to an EDC mixture in early pregnancy is associated with language delay in offspring. At human-relevant concentrations, this mixture disrupted hormone-regulated and disease-relevant regulatory networks in human brain organoids and in the model organisms Xenopus leavis and Danio rerio, as well as behavioral responses. Reinterrogating epidemiological data, we found that up to 54% of the children had prenatal exposures above experimentally derived levels of concern, reaching, for the upper decile compared with the lowest decile of exposure, a 3.3 times higher risk of language delay.

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4. Choo TH, Xu Q, Budimirovic D, Lozano R, Esler AN, Frye RE, Andrews H, Velinov M. Height and BMI in fragile X syndrome: A longitudinal assessment. Obesity (Silver Spring, Md). 2022; 30(3): 743-50.

OBJECTIVE: Previously reported data regarding growth parameters in individuals with fragile X syndrome (FXS) are inconsistent. A longitudinal analysis of height and BMI in a large number of individuals with FXS was conducted. METHODS: Age- and sex-specific z scores for height and BMI of 1,223 individuals with FXS were calculated based on published normative data. Mixed-effect linear regression models were fit separately for males and females, and z scores for height and weight were regressed against age and adjusted for intellectual disability (ID) and psychotropic medication use. RESULTS: Mean height z score for both sexes decreased with age and was lower than normative data. Mean BMI z score was greater than normative data in both sexes, and this disparity increased with age. BMI z score in females was greater for those with moderate or severe ID than those with no or mild ID. Individuals taking antipsychotics had higher BMI z scores than those taking no or other medications; those taking anticonvulsants or stimulants had lower BMI z scores. CONCLUSIONS: Individuals with FXS are at elevated risk for overweight and obesity. The risk is higher in individuals taking antipsychotics and among females with severe ID. These findings warrant increased attention to obesity prevention for all individuals with FXS.

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5. Dave A, Pillai PP. Docosahexaenoic acid increased MeCP2 mediated mitochondrial respiratory complexes II and III enzyme activities in cortical astrocytes. Journal of biochemical and molecular toxicology. 2022; 36(4): e23002.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) in the neurons and glial cells of the central nervous system. Currently, therapeutics for RTT is aimed at restoring the loss-of-function by MeCP2 gene therapy, but that approach has multiple challenges. We have already reported impaired mitochondrial bioenergetics in MeCP2 deficient astrocytes. Docosahexaenoic acid (DHA), a polyunsaturated fatty acid, has been shown with health benefits, but its impact on mitochondrial functions in MeCP2 deficient astrocytes has never been paid much attention. The present study aimed to investigate the effects of DHA on mitochondrial respiratory chain regulation in MeCP2 knockdown astrocytes. We determined NADH dehydrogenase (ubiquinone) flavoprotein 2 (Ndufv2-complex-I), Ubiquinol cytochrome c reductase core protein (Uqcrc1-complex-III) genes expression, Ndufv2 protein expression, respiratory electron transport chain complex I, II, III, and IV enzyme activities, intracellular Ca(+2) , reactive oxygen species (ROS) and mitochondrial membrane potential (MMP) in DHA pre-incubated MeCP2 knock-down rat primary cortical astrocytes. Our study demonstrates that 100 µM DHA increases MeCP2 gene and protein expression. Increases brain-derived neurotrophic factor (BDNF) and Uqcrc1 gene expression, Ndufv2 protein expression, but has no effect on glial fibrillary acidic protein (GFAP) gene expression. DHA treatment also increases mitochondrial respiratory Complexes II and III activities and reduces intracellular calcium levels. Taken together, the effects of DHA seem independent of MeCP2 deficiency in astrocytes. Hence, further studies are warranted to understand the complicated mechanisms of DHA and for its therapeutic significance in MeCP2-mediated mitochondrial dysfunction and in RTT disease.

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6. Dickinson A, Jeste S, Milne E. Electrophysiological signatures of brain aging in autism spectrum disorder. Cortex; a journal devoted to the study of the nervous system and behavior. 2022; 148: 139-51.

Recent evidence suggests that structural and functional brain aging is atypical in adults with autism spectrum disorder (ASD). However, it remains unclear if oscillatory slowing, a key marker of neurophysiological aging, follows an atypical trajectory in this population. This study examines patterns of age-related oscillatory slowing in adults with ASD, captured by reductions in the brain’s peak alpha frequency (PAF). Resting-state electroencephalography (EEG) data from adults (18-70 years) with ASD (N = 93) and non-ASD controls (N = 87) were pooled from three independent datasets. A robust curve-fitting procedure quantified the peak frequency of alpha oscillations (7-13 Hz) across all brain regions. Associations between PAF and age were assessed and compared between groups. Consistent with characteristic patterns of oscillatory slowing, PAF was negatively associated with age across the entire sample (p < .0001). A significant group-by-age interaction revealed that this relationship was more pronounced in adults with ASD (p < .01). These findings invite further longitudinal investigations of PAF in adults with ASD to confirm if age-related oscillatory slowing is accelerated.

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7. Fok M, Owens JM, Ollendick TH, Scarpa A. Perceived Driving Difficulty, Negative Affect, and Emotion Dysregulation in Self-Identified Autistic Emerging Drivers. Frontiers in psychology. 2022; 13: 754776.

Driving is central to adult independence and autonomy; yet most autistic young adults do not acquire driver’s licenses. It is important to understand barriers to achieving this milestone for autistic adults. Differences in negative affect and emotion dysregulation associated with autism may interfere with managing difficult driving situations. The current study compared perceived driving difficulty (DD), emotion dysregulation, and negative affect in emerging drivers with and without autistic traits (AT), and investigated how emotion dysregulation and negative affect relate to perceived DD. We expected (1) greater perceived DD, emotion dysregulation, and negative affect in participants with AT and (2) a positive correlation of perceived DD with both emotion dysregulation and negative affect in the whole sample. Thirty-seven adolescents and young adults (15 AT) self-reported perceived DD in 15 scenarios and completed the Difficulty in Emotion Dysregulation Scale (DERS) and the Depression, Anxiety, and Stress Scale (DASS). Autistic participants scored significantly higher on mean perceived DD, DERS Impulse subscale, DASS total and DASS Stress subscale scores. Perceived DD positively correlated with the DERS and DASS total scores, all DASS subscales, and DERS Nonacceptance, Goals, and Impulse subscales across the whole sample. The findings highlight the roles of emotion dysregulation and negative affect in perceived DD in emerging drivers with AT. In particular, emotional stress and impulsivity may map onto mechanisms of over-reactivity to negative affect and explain why autistic people perceive particular situations as difficult when driving. Implications and directions for future research are discussed.

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8. Garon N, Zwaigenbaum L, Bryson SE, Smith IM, Brian J, Roncadin C, Vaillancourt T, Armstrong VL, Sacrey LR, Roberts W. Precursors of self-regulation in infants at elevated likelihood for autism spectrum disorder. Developmental science. 2022: e13247.

Research concerning temperament in children and adults with autism spectrum disorder (ASD) has suggested a consistent profile of low positive affect, high negative affect, and low regulation (Visser et al., 2016). One area receiving less attention is individual differences among children diagnosed with ASD. The primary objective of this study was to use a person-centered approach to explore heterogeneity of early temperament precursors of regulation in a large sample of infants with elevated familial likelihood of ASD. Early precursors of regulation included temperament assessed at 6, 12, and 24 months whereas outcome measures were diagnosis of ASD, cognitive ability and adaptive behavior at 36 months. Participants included 176 low-likelihood and 473 elevated-likelihood infants, 129 of whom were diagnosed with ASD at 3 years. Results supported a three-profile solution: a well-regulated profile (high positive affect and high attentional focus and shifting), a low attention focus profile (higher attentional shifting compared to attentional focus), and a low attention shifting profile (higher attentional focus compared to attentional shifting). A higher proportion of children diagnosed with ASD were classified into the low attention shifting profile. Furthermore, children with the well-regulated profile were differentiated from the other profiles by a pattern of higher social competence and lower dysregulation whereas children with the low attention focus profile were distinguished from the other profiles by higher cognitive ability at 3 years. The findings indicate that the combination of early positive affect with attention measures may provide an enhanced tool for prediction of self-regulation and later outcomes.

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9. Jiang L, Tian L, Yuan J, Xu X, Qu F, Zhang R, Wang J. Associations Between Sex Hormone Levels and Autistic Traits in Infertile Patients With Polycystic Ovary Syndrome and Their Offspring. Frontiers in endocrinology. 2021; 12: 789395.

OBJECTIVES: 1) To explore the associations between autistic traits and sex hormone changes in patients with polycystic ovary syndrome (PCOS); 2) To explore the influence of PCOS parental autistic traits and related sex hormone changes on autistic traits in their offspring. METHOD: This is a case-control study that recruited two groups: polycystic ovarian syndrome-induced infertile subjects as the observation group and fallopian tube factor-induced infertility subjects as the control group. Both cohorts were patients undergoing infertility treatment in the Productive Medicine Center, Peking University People’s Hospital. Two types of questionnaires were completed by patients between May 1(st), 2015, and May 1(st), 2016: 1. The autism-spectrum quotient (AQ) 2. Repetitive behavior scale-revised (RBS-r). Levels of sex hormones in serum were measured in patients. The correlations between the levels of these biochemical factors and scores of the autistic traits were analysed. From July 1(st), 2020 to September 1(st), 2021, these patients were followed up by telephone and asked to fill out a questionnaire online. The questionnaire included date of delivery, complications, medicine used and negative events during pregnancy (e.g., death of relatives, divorce, etc.), delivery condition, breastfeeding, AQ scale and Autism Behavior Checklist (ABC) of their children. RESULTS: The patients in the PCOS group had significantly higher AQ scores than those in the control group. Levels of luteinizing hormone and testosterone were also higher in the PCOS group. No significant differences were found between the two groups in RBS-r levels, follicle-stimulating hormone, estradiol or progesterone. In the two combined groups, there were significantly positive correlations between the AQ scores and the luteinizing hormone concentration, as well as between scores of RBS-r and testosterone concentration. Moreover, there was a significantly negative correlation between the level of progesterone and the RBS-r score. According to the follow-up data, the AQ scores of offspring were positively correlated with the RBS-r scores of their mothers. The ABC scores of offspring were positively correlated with the RBS-r scores and the childbearing age of their mothers. No significant difference was found between the two groups in age of delivery, complications, special medication used, negative events during pregnancy, delivery situation, postpartum breastfeeding, age of children, or AQ scores or ABC scores of children. There were no significant correlations between the scale scores of children and the related sex hormone levels of mothers. This could indicate that the higher levels of luteinizing hormone and testosterone and the lower level of progesterone accompanied more pronounced autistic traits in PCOS. Furthermore, the higher delivery age and RBS-r score in mothers accompanied the higher AQ and ABC scores in children. CONCLUSION: Compared with the control group, PCOS patients had more autistic traits (especially social dysfunction). The autistic traits in PCOS patients might be related to the elevation in testosterone concentration and luteinizing hormone levels and the decline in progesterone level. Moreover, the autistic traits in the offspring of PCOS patients might be related to the parental high delivery age and high tendency to autism traits.

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10. Khan TR, Dolce A, Goodspeed K. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. BMC neurology. 2022; 22(1): 60.

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. CASE PRESENTATION: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. CONCLUSIONS: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.

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11. Mandy W, Midouhas E, Hosozawa M, Cable N, Sacker A, Flouri E. Mental health and social difficulties of late-diagnosed autistic children, across childhood and adolescence. Journal of child psychology and psychiatry, and allied disciplines. 2022.

BACKGROUND: Autism can be diagnosed from 2 years of age, although most autistic people receive their diagnosis later than this after they have started education. Research is required to understand why some autistic children are diagnosed late, and the level and nature of unmet need prior to diagnosis for late-diagnosed children. METHODS: We examined trajectories of emotional, behavioural and social difficulties (EBSDs) across childhood and adolescence, comparing ‘earlier-diagnosed’ (diagnosed 7 years or younger) with ‘late-diagnosed’ (diagnosed between 8 and 14 years) autistic children. Data were from the Millennium Cohort Study, a population-based UK birth cohort. EBSDs were measured using the parent-report Strengths and Difficulties Questionnaire, at 3, 5, 7, 11 and 14 years. We used Growth Curve Modelling to investigate levels and rates of change in these difficulties, and to compare earlier- (n = 146) and late-diagnosed (n = 284) autistic children. RESULTS: Aged 5, earlier-diagnosed autistic children had more emotional (i.e., internalising), conduct, hyperactivity and social difficulties; although clinical difficulties in these areas were nevertheless common in late-diagnosed children. There was a faster annual increase in scores for all domains for late-diagnosed children, and by age 14 years, they had higher levels of EBSDs. These results persisted when we ran adjusted models, to account for the late-diagnosed group having higher rates of late-diagnosed attention deficit/hyperactivity disorder, higher IQ, a higher proportion of females and older and more educated mothers. CONCLUSIONS: Emotional, behavioural and social difficulties are associated with, and may influence, the timing of autism diagnosis. Late-diagnosed autistic children often have high levels of mental health and social difficulties prior to their autism diagnosis, and tend to develop even more severe problems as they enter adolescence.

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12. Mundy P, Bullen J. The Bidirectional Social-Cognitive Mechanisms of the Social-Attention Symptoms of Autism. Frontiers in psychiatry. 2021; 12: 752274.

Differences in social attention development begin to be apparent in the 6(th) to 12(th) month of development in children with Autism Spectrum Disorder (ASD) and theoretically reflect important elements of its neurodevelopmental endophenotype. This paper examines alternative conceptual views of these early social attention symptoms and hypotheses about the mechanisms involved in their development. One model emphasizes mechanism involved in the spontaneous allocation of attention to faces, or social orienting. Alternatively, another model emphasizes mechanisms involved in the coordination of attention with other people, or joint attention, and the socially bi-directional nature of its development. This model raises the possibility that atypical responses of children to the attention or the gaze of a social partner directed toward themselves may be as important in the development of social attention symptoms as differences in the development of social orienting. Another model holds that symptoms of social attention may be important to early development, but may not impact older individuals with ASD. The alterative model is that the social attention symptoms in infancy (social orienting and joint attention), and social cognitive symptoms in childhood and adulthood share common neurodevelopmental substrates. Therefore, differences in early social attention and later social cognition constitute a developmentally continuous axis of symptom presentation in ASD. However, symptoms in older individuals may be best measured with in vivo measures of efficiency of social attention and social cognition in social interactions rather than the accuracy of response on analog tests used in measures with younger children. Finally, a third model suggests that the social attention symptoms may not truly be a symptom of ASD. Rather, they may be best conceptualized as stemming from differences domain general attention and motivation mechanisms. The alternative argued for here that infant social attention symptoms meet all the criteria of a unique dimension of the phenotype of ASD and the bi-directional phenomena involved in social attention cannot be fully explained in terms of domain general aspects of attention development.

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13. Pili R, Zolo B, Farris P, Penna V, Valinotti S, Carrogu GP, Gaviano L, Berti R, Pili L, Petretto DR. Autism and Visual impairment: A First Approach to a Complex Relationship. Clinical practice and epidemiology in mental health : CP & EMH. 2021; 17: 212-6.

Since the first half of the 20th century there has been an interest in the study of the relationship between autism and autistic-like clinical features and with visual impairments. Autism Spectrum disorders are one of the more worldwide-studied neurodevelopmental disorder with an increasing prevalence in the last ten years. Visual impairment is a condition which derives from several causes (genetic, constitutional, injuries, nutritional and environmental ones). Again, it is a kind of spectrum and an overarching category, because visual impairments range from refractive errors (myopia, hyperopia, astigmatism), to amblyopia, strabismus, and to partial and total blindness. Since the first study of Keeler (1956) which described autistic-like patterns in five preschool children who were totally blind due to retinopathy of prematurity (ROP), a growing number of researchers addressed the relationship between autism and visual impairment. In this paper we focused on it, aiming to discuss on some lessons learned in this field and to discuss some open questions since the first research in this field.

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14. Suzuki T, Wada K, Nakazato M, Ohtani T, Yoshinaga Y, Muzembo BA, Khatiwada J, Choomplang N, Garidkhuu A, Ikeda S. Depressive symptoms in workers with high autistic trait scores according to job stress type. Industrial health. 2022.

Individuals with high levels of autistic traits are at a high risk of experiencing depressive symptoms, and are also vulnerable to job stress. This study aimed to identify which combination of autistic traits and type of job stress are related to depressive symptoms. Participants comprised 992 workers from different regions of Japan. Autistic traits, depressive symptoms, and job stress were measured using the Autism-Spectrum Quotient, K6 scale, and Job Content Questionnaire, respectively. Logistic regression was performed to estimate the odds ratio and 95% confidence interval. Workers with high autistic traits scores reported significantly more depressive symptoms for all job stress types, especially high job demand. Depressive symptoms differed according to autistic traits and job stress. In workers with high autistic trait subscale scores, those with active job stress reported more depressive symptoms than those with high strain job stress, except for the « poor imagination » trait. This is contrary to previous reports that the active stress type is generally less associated with depressive symptoms than the high-strain stress type. To prevent depressive symptoms in workers with high autistic trait scores, it is important to understand which combination of autistic traits and type of job stress contribute to depressive symptoms.

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15. Zhao HC, Lv R, Zhang GY, He LM, Cai XT, Sun Q, Yan CY, Bao XY, Lv XY, Fu B. Alterations of Prefrontal-Posterior Information Processing Patterns in Autism Spectrum Disorders. Frontiers in neuroscience. 2021; 15: 768219.

Autism spectrum disorder (ASD) is a heterogeneous disorder characterized by different levels of repetitive and stereotypic behavior as well as deficits in social interaction and communication. In this current study, we explored the changes in cerebral neural activities in ASD. The purpose of this study is to investigate whether there exists a dysfunction of interactive information processing between the prefrontal cortex and posterior brain regions in ASD. We investigated the atypical connectivity and information flow between the prefrontal cortex and posterior brain regions in ASD utilizing the entropy connectivity (a kind of directional connectivity) method. Eighty-nine patients with ASD and 94 typical developing (TD) teenagers participated in this study. Two-sample t-tests revealed weakened interactive entropy connectivity between the prefrontal cortex and posterior brain regions. This result indicates that there exists interactive prefrontal-posterior underconnectivity in ASD, and this disorder might lead to less prior knowledge being used and updated. Our proposals highlighted that aforementioned atypical change might accelerate the deoptimization of brain networks in ASD.

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