1. Amadi CN, Orish CN, Frazzoli C, Orisakwe OE. Association of autism with toxic metals: A systematic review of case-control studies. Pharmacology, biochemistry, and behavior. 2022; 212: 173313.

Environmental factors have been associated with the etiology of autism spectrum disorder ASD in recent times. The involvement of toxic metals in the generation of reactive oxygen species and their epigenetics effects have been implicated in ASD. This systemic review examines the association of toxic metals with autism in children. A systematic literature search was performed in scientific databases such as PubMed, Google scholar, and Scopus. Case-control studies evaluating toxic metal levels in different tissues of ASD children and comparing them to healthy children (control group) were identified. The Newcastle-Ottawa Scale was used to evaluate the risk of bias of the included studies. Six case-control studies with 425 study subjects met our inclusion criteria. A total of four studies indicated higher levels of As, Pb, Hg, Cd, Al, Sn, Sb, Ba, TI, W, and Zr in whole blood, RBC, in whole blood, RBC, and hair samples of children with autism compared with control suggestive of a greater toxic metal exposure (immediate and long-term). Three studies identified significantly higher concentrations of Cd, Pb and Hg in urine and hair samples of autistic children compared to control suggesting decreased excretion and possible high body burden of these metals. The findings from this review demonstrate that high levels of toxic metals are associated with ASD, therefore, critical care is necessary to reduce body burden of these metals in children with ASD as a major therapeutic strategy.

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2. Azevedo Machado B, Silva Moro J, Massignam C, Cardoso M, Bolan M. Fear, changes in routine and dental care for children and adolescents with autism spectrum disorder in the COVID-19 pandemic: A survey with Brazilian parents. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2021.

AIMS: This study aimed to report the perception of parents of children/adolescents with autism regarding the parents’ fear of the pandemic by COVID-19. Also, to report children’s fear about the use of individual protective equipment (IPE) in dental appointments, and the impact on the daily routine during the pandemic. METHODS AND RESULTS: A cross-sectional study through an open online survey was addressed to parents of children/adolescents autistic, aged between 3 and 18 years. The questionnaire had questions regarding the parents’ fear of the COVID-19 pandemic, the parents’ perception about the children/adolescents’ fear of the use of IPEs at dental care, and the impact of the daily routine during the pandemic and social impact after the pandemic. Parents’ reports on the degree of ASD (mild, moderate, and severe) of the child/adolescent. A total of 1001 responses were obtained. 50.35% of parents had high fear of the pandemic by COVID-19, 59.34% believe that children/teenagers will be afraid of the dentist’s IPE and 61.64% responded that the COVID-19 pandemic had a high impact on the daily routine of children/adolescents with ASD. CONCLUSIONS: Most parents reported fear of the pandemic by COVID-19, that children/adolescents with autism may be afraid of IPE and had a high impact on their daily routine during the pandemic.

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3. Bakulski KM, Dou JF, Feinberg JI, Aung MT, Ladd-Acosta C, Volk HE, Newschaffer CJ, Croen LA, Hertz-Picciotto I, Levy SE, Landa R, Feinberg AP, Fallin MD. Autism-Associated DNA Methylation at Birth From Multiple Tissues Is Enriched for Autism Genes in the Early Autism Risk Longitudinal Investigation. Frontiers in molecular neuroscience. 2021; 14: 775390.

Background: Pregnancy measures of DNA methylation, an epigenetic mark, may be associated with autism spectrum disorder (ASD) development in children. Few ASD studies have considered prospective designs with DNA methylation measured in multiple tissues and tested overlap with ASD genetic risk loci. Objectives: To estimate associations between DNA methylation in maternal blood, cord blood, and placenta and later diagnosis of ASD, and to evaluate enrichment of ASD-associated DNA methylation for known ASD-associated genes. Methods: In the Early Autism Risk Longitudinal Investigation (EARLI), an ASD-enriched risk birth cohort, genome-scale maternal blood (early n = 140 and late n = 75 pregnancy), infant cord blood (n = 133), and placenta (maternal n = 106 and fetal n = 107 compartments) DNA methylation was assessed on the Illumina 450k HumanMethylation array and compared to ASD diagnosis at 36 months of age. Differences in site-specific and global methylation were tested with ASD, as well as enrichment of single site associations for ASD risk genes (n = 881) from the Simons Foundation Autism Research Initiative (SFARI) database. Results: No individual DNA methylation site was associated with ASD at genome-wide significance, however, individual DNA methylation sites nominally associated with ASD (P < 0.05) in each tissue were highly enriched for SFARI genes (cord blood P = 7.9 × 10(-29), maternal blood early pregnancy P = 6.1 × 10(-27), maternal blood late pregnancy P = 2.8 × 10(-16), maternal placenta P = 5.6 × 10(-15), fetal placenta P = 1.3 × 10(-20)). DNA methylation sites nominally associated with ASD across all five tissues overlapped at 144 (29.5%) SFARI genes. Conclusion: DNA methylation sites nominally associated with later ASD diagnosis in multiple tissues were enriched for ASD risk genes. Our multi-tissue study demonstrates the utility of examining DNA methylation prior to ASD diagnosis.

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4. Blackwell S, Zylberberg A, Scerif G, Miller S, Woodcock KA. Understanding the psycho-social context for a new early intervention for resistance to change that aims to strike a beneficial balance between structure and flexibility. BMC psychiatry. 2021; 21(1): 621.

BACKGROUND: Emotional and behavioural problems linked to changes to expectations – resistance to change – are linked to disability in neurodevelopmental disorders, including autism spectrum disorder (ASD), Prader-Willi (PWS) and fragile X syndromes (FXS). Structuring routines is best practice for minimising current resistance to change. But complete structure is impractical and flexibility in early life may actually reduce later resistance by supporting cognitive development. We aimed to examine the psycho-social context of families with children at risk of developing resistance to change so as to identify design requirements for an intervention that strikes a beneficial balance between structure and flexibility. METHODS: Thirty-six caregivers of children aged 4-12 years (17 ASD, 15 PWS, and 4 FXS) took part in an interview designed collaboratively with 12 professional stakeholders. RESULTS: Children need to feel like they are in control of flexibility but they also need support in choice making, understanding plans (using individually tailored visuals) and anxiety reduction. Caregivers need an accessible approach that they have full control over, and which they can tailor for their child. Caregivers also need clear guidance, education and support around structure and flexibility. CONCLUSIONS: We propose a digital approach which addresses the needs identified. It tackles the most perplexing challenge by presenting flexibility to children in the context of a game that children can feel they have full control over, whilst caregivers can maintain control in reality. Furthermore, individualised support for children and caregivers would be enabled.

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5. Botha M. Critical realism, community psychology, and the curious case of autism: A philosophy and practice of science with social justice in mind. Journal of community psychology. 2021.

Community psychology (CP) is a transformative subdiscipline of psychology which aims to address inequality and social injustice and to attend to wellbeing. It has been argued that CP lacks an underpinning philosophy of science. Philosophies of science provide road maps for values, methods, and objectives, thus ultimately framing all research. This study will highlight how traditional philosophies of science such as positivism, interpretivism, and social constructivism fail to support the complexity of CP and often essentialise complex phenomena, such as autism, to the detriment of stakeholders. Critical realism will then be introduced as a promising philosophy of science for CP, which can reinvigorate CPs push for impactful research and social change. The study will highlight how CP provides a platform for appreciating the complexity of autism and for transforming structures of inequality experienced by autistic people, together with autistic people.

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6. Bullard L, Harvey D, Abbeduto L. Maternal Mental Health and Parenting Stress and Their Relationships to Characteristics of the Child With Fragile X Syndrome. Frontiers in psychiatry. 2021; 12: 716585.

Although previous research supports the notion that characteristics of both the child and the mother impact maternal well-being and parenting stress in mothers of children with FXS, more work is needed in which self-report measures are supplemented by physiological measures of stress and well-being. The inclusion of physiological measures, such as heart rate variability (HRV), may provide a window into the biological origins and consequences of maternal perceptions of their experiences, including the challenges of raising a child with developmental challenges. The proposed project, therefore, involved the collection of multimodal assessment data from mothers and their school-aged children with FXS. Further, given the importance of understanding how mothers of youth with FXS are faring in their everyday environment, the present study collected all data using telehealth procedures and wearable technology. Participants were 20 biological mothers and their children with FXS between the ages of 6 and 11 years. We measured maternal mental health and parenting stress through self-report as well as through HRV as a more objective measure of psychological well-being. We also examined the associations between these variables and child characteristics such as externalizing and internalizing behaviors as well as autism symptomatology. We found significant support for an elevated rate of depressive symptoms in the sample of mothers (35%) and some potential indicators for heightened rates of anxiety (15%) when compared to normed samples and rates in the general population. We also found that the mothers presented with an atypical HRV profile akin to those experiencing depression or chronic stress, although limitations of the present measure suggest the need for additional confirmatory research. Further, we found that child externalizing behaviors were the primary correlates of maternal well-being. These findings contribute to the growing body of literature regarding the unique challenges faced by these mother-child dyads and supports the importance of increasing the availability of services available to these mothers, not only for meeting the needs of their children’s development and behavior, but in supporting their own well-being as well.

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7. Chen B, You N, Pan B, He X, Zou X. Application of Clustering Method to Explore the Correlation Between Dominant Flora and the Autism Spectrum Disorder Clinical Phenotype in Chinese Children. Frontiers in neuroscience. 2021; 15: 760779.

Autism spectrum disorder (ASD) is characterized by deficits in social interactions and repetitive, stereotypic behaviors. Evidence shows that bidirectional communication of the gut-brain axis plays an important role. Here, we recruited 62 patients with ASD in southern China, and performed a cross-sectional study to test the relationship between repeated behavior, gut microbiome composition, and alpha diversity. We divided all participants into two groups based on the clustering results of their microbial compositions and found Veillonella and Ruminococcus as the seed genera in each group. Repetitive behavior differed between clusters, and cluster 2 had milder repetitive symptoms than Cluster 1. Alpha diversity between clusters was significantly different, indicating that cluster 1 had lower alpha diversity and more severe repetitive, stereotypic behaviors. Repetitive behavior had a negative correlation with alpha diversity. We demonstrated that the difference in intestinal microbiome composition and altered alpha diversity can be associated with repetitive, stereotypic behavior in autism. The role of Ruminococcus and Veillonella in ASD is not yet understood.

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8. de Vries B. Autism and the Right to a Hypersensitivity-Friendly Workspace. Public health ethics. 2021; 14(3): 281-7.

Many individuals on the autism spectrum are hypersensitive to certain sensory stimuli. For this group, as well as for non-autistic individuals with sensory processing disorders, being exposed to e.g. fluorescent lights, perfume odours, and various sounds and noises can be real torment. In this article, I consider the normative implications of such offence for the design of office spaces, which is a topic that has not received any attention from philosophers. After identifying different ways in which the senses of hypersensitive workers might be protected within these spaces, I show that many of such accommodations can be made at reasonable cost, before arguing that doing so ought to be a legal requirement.

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9. Dooley N, Ruigrok A, Holt R, Allison C, Tsompanidis A, Waldman J, Auyeung B, Lombardo MV, Baron-Cohen S. Is there an association between prenatal testosterone and autistic traits in adolescents?. Psychoneuroendocrinology. 2022; 136: 105623.

Prenatal testosterone (pT) is a crucial component in physiological masculinization in humans. In line with the Prenatal Sex Steroid Theory of autism, some studies have found a positive correlation between pT and autistic traits in childhood. However, effects in adolescence have not been explored. Hormonal and environmental changes occurring during puberty may alter the strength or the nature of prenatal effects on autistic traits. The current study examines if pT relates to autistic traits in a non-clinical sample of adolescents and young adults (N = 97, 170 observations; age 13-21 years old). It also explores pT interactions with pubertal stage and timing. PT concentrations were measured from amniotic fluid extracted in the 2nd trimester of gestation via amniocentesis conducted for clinical purposes. Autistic traits were measured by self- and parent-reports on the Autism Spectrum Quotient (AQ) which provides a total score and 5 sub-scores (social skills, communication, imagination, attention switching and attention to detail). Self-reported pubertal stage was regressed on age to provide a measure of relative timing. We found no statistical evidence for a direct association between pT and autistic traits in this adolescent sample (males, females or full sample). Exploratory analyses suggested that pT correlated positively with autistic traits in adolescents with earlier puberty-onset, but statistical robustness of this finding was limited. Further exploratory post-hoc tests suggested the pT-by-pubertal timing interaction was stronger in males relative to females, in self-reported compared to parent-reported AQ and specifically for social traits. These findings require replication in larger samples. Findings have implications for understanding the effects of pT on human behavior, specifically existence of effects in adolescence.

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10. Edwards M, Joseph S. The Fragile X Proteins Differentially Regulate Translation of Reporter mRNAs with G-quadruplex Structures. Journal of molecular biology. 2022; 434(2): 167396.

Fragile X Syndrome, as well as some manifestations of autism spectrum disorder, results from improper RNA regulation due to a deficiency of fragile X mental retardation protein (FMRP). FMRP and its autosomal paralogs, fragile X related proteins 1 & 2 (FXR1P/2P), have been implicated in many aspects of RNA regulation, from protein synthesis to mRNA stability and decay. The literature on the fragile X related proteins’ (FXPs) role in mRNA regulation and their potential mRNA targets is vast. Therefore, we developed an approach to investigate the function of FXPs in translational control using three potential mRNA targets. Briefly, we first selected top mRNA candidates found to be associated with the FXPs and whose translation are influenced by one or more of the FXPs. We then narrowed down the FXPs’ binding site(s) within the mRNA, analyzed the strength of this binding in vitro, and determined how each FXP affects the translation of a minimal reporter mRNA with the binding site. Overall, all FXPs bound with high affinity to RNAs containing G-quadruplexes, such as Cyclin Dependent Kinase Inhibitor p21 and FMRP’s own coding region. Interestingly, FMRP inhibited the translation of each mRNA distinctly and in a manner that appears to correlate with its binding to each mRNA. In contrast, FXR1P/2P inhibited all mRNAs tested. Finally, although binding of our RNAs was due to the RGG (arginine-glycine-glycine) motif-containing C-terminal region of the FXPs, this region was not sufficient to cause inhibition of translation.

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11. Ghahari N, Hosseinali F, Cervantes de Blois CL, Alesheikh H. A space-time analysis of disparities in age at diagnosis of autism spectrum disorder: environmental and socioeconomic risk factors. Journal of environmental health science & engineering. 2021; 19(2): 1941-50.

INTRODUCTION: Early diagnosis of autism is a critical step for gaining early intervention. The earlier interventions begin, the greater chance to reduce symptoms of autism over the lifespan. Despite the improvement in early diagnosis, age at diagnosis varies by residential locations. In order to improve early screening services, this study aims to identify geographic clusters of early and late diagnosis of autism, in addition, it is aimed to compare cases inside the clusters with the rest of the province on characteristics and socioeconomic factors. MATERIALS AND METHODS: Survey data were collected from 163 autistics born from 1996 to 2011 in Isfahan Province, Iran. As this study found diagnosis of autism occur at an earlier age among children, who on average every 2.5 months increased for each year of age, distance from regression line has been used to determine how early a case was diagnosed compared to other identified cases. After dividing cases into 5 classes based on their distances from the regression line, the ordinal based space-time scan statistic in SaTScan was used to identify geographic areas within specific time periods that have significantly elevated proportions of autistic children who received diagnosis at the earlier or later stages. RESULTS: The space-time analysis identified two geographic areas that age of diagnosis was inconsistent with the overall study area, the first area has an early diagnosis in central part of Isfahan megacity between 1998 and 2006 (P = .001), the second area shows to have a late diagnosis centered by Najafabad from 2010 through 2015 (P = .007). CONCLUSIONS: The result of our spatial analysis can be used to evaluate the performance of diagnosis services and additionally provide information to target specific at-risk population for further interventions.

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12. Guy MW, Richards JE, Hogan AL, Roberts JE. Neural Correlates of Infant Face Processing and Later Emerging Autism Symptoms in Fragile X Syndrome. Frontiers in psychiatry. 2021; 12: 716642.

Fragile X syndrome (FXS) is the leading known genetic cause of autism spectrum disorder (ASD) with 60-74% of males with FXS meeting diagnostic criteria for ASD. Infants with FXS have demonstrated atypical neural responses during face processing that are unique from both typically developing, low-risk infants and infants at high familial risk for ASD (i.e., infants siblings of children with ASD). In the current study, event-related potential (ERP) responses during face processing measured at 12 months of age were examined in relation to ASD symptoms measured at ~48 months of age in participants with FXS, as well as siblings of children with ASD and low-risk control participants. Results revealed that greater amplitude N290 responses in infancy were associated with more severe ASD symptoms in childhood in FXS and in siblings of children with ASD. This pattern of results was not observed for low-risk control participants. Reduced Nc amplitude was associated with more severe ASD symptoms in participants with FXS but was not observed in the other groups. This is the first study to examine ASD symptoms in childhood in relation to infant ERP responses in FXS. Results indicate that infant ERP responses may be predictive of later symptoms of ASD in FXS and the presence of both common and unique pathways to ASD in etiologically-distinct high-risk groups is supported (i.e., syndromic risk vs. familial risk).

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13. Haigh SM, Walford TP, Brosseau P. Heart Rate Variability in Schizophrenia and Autism. Frontiers in psychiatry. 2021; 12: 760396.

Suppressed heart rate variability (HRV) has been found in a number of psychiatric conditions, including schizophrenia and autism. HRV is a potential biomarker of altered autonomic functioning that can predict future physiological and cognitive health. Understanding the HRV profiles that are unique to each condition will assist in generating predictive models of health. In the current study, we directly compared 12 adults with schizophrenia, 25 adults with autism, and 27 neurotypical controls on their HRV profiles. HRV was measured using an electrocardiogram (ECG) channel as part of a larger electroencephalography (EEG) study. All participants also completed the UCLA Loneliness Questionnaire as a measure of social stress. We found that the adults with schizophrenia exhibited reduced variability in R-R peaks and lower low frequency power in the ECG trace compared to controls. The HRV in adults with autism was slightly suppressed compared to controls but not significantly so. Interestingly, the autism group reported feeling lonelier than the schizophrenia group, and HRV did not correlate with feelings of loneliness for any of the three groups. However, suppressed HRV was related to worse performance on neuropsychological tests of cognition in the schizophrenia group. Together, this suggests that autonomic functioning is more abnormal in schizophrenia than in autism and could be reflecting health factors that are unique to schizophrenia.

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14. Hus Y, Segal O. Challenges Surrounding the Diagnosis of Autism in Children. Neuropsychiatric disease and treatment. 2021; 17: 3509-29.

This comprehensive thematic review aims to highlight and familiarize readers with the challenges and pitfalls encountered in differential diagnosis of autism spectrum disorders (ASD) in children to facilitate the process of accurate identification by stakeholders. Accordingly, articles that best answer our questions and highlight our concerns were chosen from well-established publishers with prime peer reviewed journals. Included are studies showing alternate views of the issues so as to point readers to other possibilities. ASD, a complex dynamic biological-neurodevelopmental disorder, is underscored by its heterogeneous symptomology, severity, and phenotypes – all characterized by social communication deficits and presence of restricted interests and repetitive behaviours (RRBs), the core symptoms in ASD. Language and intellectual capacities do not form ASD core symptoms although vary considerably. Accurate identification is challenging as ASD is often enmeshed with other neurodevelopmental disorders, and medical comorbidities, a situation now recognized as the rule rather than the exception in child psychiatry and developmental medicine. ASD is a disorder with varying performance and severity of symptoms over time, including unexpected loss of early skills, and lost diagnosis in some children following treatment. The review reiterates the urgency in accurate diagnosis in face of the rapid rise in ASD prevalence globally, and risk-increase in delayed or denied treatment with undesirable life-long consequences for most of the affected children. In addition, a call for change is advised to circumvent the ethical dilemma posed by the present « deficit model » in ASD diagnosis. Here, ASD prevalence is presented first, followed by emphasis on importance of accurate early diagnosis, and challenges in its accomplishment due to flaws in diagnostic instruments and other contributing factors. Next follow the required criteria for accurate identification, and its difficulties attributed to comorbid conditions, gender differences, and socio-economic and cultural influences. The conclusion includes future directions and a take away message.

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15. Jankowska DM, Omelańczuk I, Pisula E, Karwowski M. Evaluation of the Polish version of the Parenting Sense of Competence Scale in parents of typically developing children and children with autism spectrum disorders. Child: care, health and development. 2022; 48(3): 443-54.

BACKGROUND: Parental self-efficacy describes parents’ self-perceived competence in fulfilling their roles. The Parenting Sense of Competence Scale (PSOC) is one of the most commonly used self-report instruments, allowing for parental self-efficacy measurement. METHODS: This paper summarizes the results of three studies (total N = 2088) conducted to examine factor structure, internal consistency, test-retest reliability and criterion validity of the Polish version of PSOC (PSOC-PL). The studies were carried out among parents (mothers and fathers) of typically developing 14- and 15-year-olds (Study 1, n = 1404) as well as among parents of typically developing children aged 6-16 (Study 2, n = 248), parents of typically developing children and children with a diagnosis of autism spectrum disorder (Study 3, n = 436, ages ranged from 6 to 13). RESULTS: Confirmatory factor analysis (Study 1) demonstrated an acceptable fit of the theorized two-factor model, with theorized Satisfaction and Efficacy factors. The subscales’ internal consistencies were satisfactory across all studies (Studies 1-3), and PSOC’s test-retest reliability (Study 2) over a 3-week interval was very high. Parents of children with developmental disorders (Study 3) reported lower efficacy than parents of typically developing children. CONCLUSIONS: The results of these three studies attest that the Polish version of PSOC is a reliable and valid measure of parental self-efficacy beliefs.

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16. Jia H, Gao F, Yu D. Altered Temporal Structure of Neural Phase Synchrony in Patients With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 618573.

Functional connectivity, quantified by phase synchrony, between brain regions is known to be aberrant in patients with autism spectrum disorder (ASD). Here, we evaluated the long-range temporal correlations of time-varying phase synchrony (TV-PS) of electrocortical oscillations in patients with ASD as well as typically developing people using detrended fluctuation analysis (DFA) after validating the scale-invariance of the TV-PS time series. By comparing the DFA exponents between the two groups, we found that those of the TV-PS time series of high-gamma oscillations were significantly attenuated in patients with ASD. Furthermore, the regions involved in aberrant TV-PS time series were mainly within the social ability and cognition-related cortical networks. These results support the notion that abnormal social functions observed in patients with ASD may be caused by the highly volatile phase synchrony states of electrocortical oscillations.

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17. Kelm K, Bolduc FV. How Knowledge Mapping Can Bridge the Communication Gap Between Caregivers and Health Professionals Supporting Individuals With Complex Medical Needs: A Study in Fragile X Syndrome. Frontiers in psychiatry. 2021; 12: 731011.

The challenges of caring for children with complex health needs, such as intellectual disability (ID) and autism spectrum disorder (ASD), are multiple and experienced by both caregivers and health professionals. Fragile X syndrome (FXS) is the most common single gene cause of ID and ASD, and provides a pertinent model to understand these complexities of care, as well as the communication challenges experienced between caregivers and healthcare professionals. In recent years both caregivers and healthcare professionals have recognized the need for enhancing communication both in clinical and research settings. Knowledge mapping has emerged as a tool to support quality communication between team participants. Here we review how differences in mental models, as well as challenges related to health literacy and knowledge transfer can have an impact on communication. Next, we present different knowledge mapping approaches used in complex situations, with a focus on concept maps and care maps. Finally, we highlight the potential benefits and limitations of mapping to improve communication issues related to caring for individuals with FXS and potentially other neurodevelopmental disorders (NDDs).

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18. Kirby TO, Shi X, Walters D, Roullet JB, Gibson KM. Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD). Molecular genetics and metabolism. 2022; 135(1): 42-6.

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited inborn error of the γ-aminobutyric acid (GABA) metabolism pathway. It results from mutations in the ALDH5A1 gene leading to elevated GABA, γ-hydroxybutyric acid (GHB), succinic semialdehyde (SSA), decreased glutamine and alterations in several other metabolites. The phenotype includes developmental and cognitive delays, hypotonia, seizures, neuropsychiatric morbidity and other nervous system pathologies. The composition of the intestinal flora of patients with SSADHD has not been characterized, and dysbiosis of the gut microbiome may unveil novel treatment paradigms. We investigated the gut microbiome in SSADHD using 16S ribosomal DNA sequencing and unmasked evidence of dysbiosis in both aldh5a1-deficient mice and patients with SSADHD. In the murine model, there was a reduction in α-diversity measurements, and there were 4 phyla, 3 classes, 5 orders, 9 families, and 15 genera that differed, with a total of 17 predicted metabolic pathways altered. In patients, there were changes in Fusobacterium, 3 classes, 4 orders, 11 families, and a predicted alteration in genes associated with the digestive system. We believe this is the first evaluation of microbiome structure in an IEM with a neurometabolic phenotype that is not treated dietarily.

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19. Manzanarez B, Garcia S, Iverson E, Lipton-Inga MR, Blaine K. Lessons in Adapting a Family-Based Nutrition Program for Children With Autism. Journal of nutrition education and behavior. 2021; 53(12): 1038-47.

OBJECTIVE: To evaluate the adaptation and implementation of an existing, evidence-based nutrition program for children with autism and their parents. METHODS: Children aged 7-12 years with autism and their parent participated in 6 weekly sessions. Recruitment, intervention, and data collection took place in a community health center in an urban area. RESULTS: Of the 50 referred participants, 38% attended the first classes, and 26% completed the program. Families and staff expressed satisfaction; parents reported increased physical activity, fruit, and vegetable intake in their children. Parents also desired continued learning and individualized recommendations. CONCLUSIONS AND IMPLICATIONS: Adapting family-centered nutrition programs can positively influence diet behaviors in children with autism. As many children with autism battle with obesity, the findings from this pilot provide important insight into supporting these families and can further inform the development of evidence-based practices currently lacking for children with autism and their families.

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20. Naumann K, Kernot J, Parfitt G, Gower B, Winsor A, Davison K. What are the effects of scuba diving-based interventions for clients with neurological disability, autism or intellectual disability? A systematic review. Diving and hyperbaric medicine. 2021; 51(4): 355-60.

INTRODUCTION: Recreational scuba diving has existed for over 70 years with organisations emerging that teach individuals with disabilities to dive. It is unclear what the physical and psychosocial effects of scuba interventions might be. This systematic review explores evidence for the effects of scuba diving in individuals with neurological disability, intellectual disability and autism. METHODS: The databases Medline, EMBASE, Ovid Emcare, and SportDiscus were searched. Included papers described a scuba-based intervention for clients with a neurological disability, intellectual disability and autism, with physical or psychosocial outcomes explored in the paper. Quality of the included papers was assessed using the McMaster Appraisal Tools, with descriptive data synthesis completed to explore the physical and psychosocial effects of the interventions. RESULTS: Four papers met the inclusion criteria: a cross-sectional investigation, a phenomenological study, a case-control study and a multiple case study. The quality of the papers was low to moderate. Papers addressed the psychosocial effects of scuba diving, including motivation to participate, participant experiences, the effect on cognition and physical self-concept. One study reported an increase in self-concept for the majority of participants. An increase in understanding instructions and in visual attention was reported in another. Enjoyment of the activity was reported and motivators to be involved in scuba diving for people with disabilities included fun and excitement. No papers addressed functional outcomes. CONCLUSIONS: Whilst scuba diving interventions appear to enhance physical self-concept and are enjoyable, conclusive evidence regarding effectiveness could not be determined. Research in this area is extremely limited.

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21. Operto FF, Pastorino GMG, Scuoppo C, Padovano C, Vivenzio V, Pistola I, Belfiore G, Rinaldi R, de Simone V, Coppola G. Adaptive Behavior, Emotional/Behavioral Problems and Parental Stress in Children With Autism Spectrum Disorder. Frontiers in neuroscience. 2021; 15: 751465.

Background: The aim of our study was to compare adaptive skills, emotional/behavioral problems, and parental stress among children with different severity levels of Autism Spectrum Disorder (ASD) symptoms. Methods: This study included a sample of 88 subjects with ASD (mean age = 6.00 ± 2.70). All subjects underwent standardized neuropsychological tests for the assessment of symptoms of the autism spectrum (Autism Diagnostic Observation Schedule-Second Edition), adaptive level (The Vineland Adaptive Behavior Scales, Survey Interview, 2nd edition), behavioral and emotional problems (Child Behavior CheckList CBCL), and parental stress (Parental Stress Index Short Form-PSI-SF). Non-parametric statistical methods (Kruskal-Wallis test and Mann-Whitney U-test for post hoc analysis) and linear regression analysis were used in this study. Results: Children who had higher severity levels of ASD symptoms had less adaptive functioning; younger children showed more severe symptoms of ASD; older children had better communication skills. The presence of greater adaptive difficulties was related to a greater presence of internalizing problems. An increase in parental stress levels was related to an higher severity of ASD symptoms, fewer adaptive skills, and a greater presence of internalizing and externalizing problems. Conclusion: This study suggests that the adaptive behavior should be considered in order to planning a habilitation intervention in children with autism. It is also important to monitor emotional/behavioral problems and parental stress levels in order to provide parenting support and improve the family quality of life.

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22. Robledo KP, Tarnow-Mordi WO, Rieger I, Suresh P, Martin A, Yeung C, Ghadge A, Liley HG, Osborn D, Morris J, Hague W, Kluckow M, Lui K, Soll R, Cruz M, Keech A, Kirby A, Simes J. Effects of delayed versus immediate umbilical cord clamping in reducing death or major disability at 2 years corrected age among very preterm infants (APTS): a multicentre, randomised clinical trial. The Lancet Child & adolescent health. 2022; 6(3): 150-7.

BACKGROUND: Very preterm infants are at increased risk of adverse outcomes in early childhood. We assessed whether delayed clamping of the umbilical cord reduces mortality or major disability at 2 years in the APTS Childhood Follow Up Study. METHODS: In this long-term follow-up analysis of the multicentre, randomised APTS trial in 25 centres in seven countries, infants (<30 weeks gestation) were randomly assigned before birth (1:1) to have clinicians aim to delay clamping for 60 s or more or clamp within 10 s of birth, both without cord milking. The primary outcome was death or major disability (cerebral palsy, severe visual loss, deafness requiring a hearing aid or cochlear implants, major language or speech problems, or cognitive delay) at 2 years corrected age, analysed in the intention-to-treat population. This trial is registered with the Australian and New Zealand Clinical Trials Registry (ACTRN12610000633088). FINDINGS: Between Oct 21, 2009, and Jan 6, 2017, consent was obtained for follow-up for 1531 infants, of whom 767 were randomly assigned to delayed clamping and 764 to immediate clamping. 384 (25%) of 1531 infants were multiple births, 862 (56%) infants were male, and 505 (33%) were born before 27 weeks gestation. 564 (74%) of 767 infants assigned to delayed clamping and 726 (96%) of 764 infants assigned to immediate clamping received treatment that fully adhered to the protocol. Death or major disability was determined in 1419 (93%) infants and occurred in 204 (29%) of 709 infants who were assigned to delayed clamping versus 240 (34%) of 710 assigned to immediate clamping, (relative risk [RR]) 0•83, 95% CI 0•72-0•95; p=0•010). 60 (8%) of 725 infants in the delayed clamping group and 81 (11%) of 720 infants in the immediate clamping group died by 2 years of age (RR 0•70, 95% CI 0•52-0•95); among those who survived, major disability at 2 years occurred in 23% (144/627) versus 26% (159/603) of infants, respectively (RR 0•88, 0•74-1•04). INTERPRETATION: Clamping the umbilical cord at least 60 s after birth reduced the risk of death or major disability at 2 years by 17%, reflecting a 30% reduction in relative mortality with no difference in major disability. FUNDING: Australian National Health and Medical Research Council.

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23. Shiota Y, Hirosawa T, Yoshimura Y, Tanaka S, Hasegawa C, Iwasaki S, An KM, Soma D, Sano M, Yokoyama S, Kikuchi M. A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability. PloS one. 2021; 16(12): e0260548.

Sub-threshold autistic traits are common in the general population. Children with sub-threshold autistic traits have difficulties with social adaptation. Contactin-associated protein-like 2 (CNTNAP2) is associated with the development of Autism spectrum disorder (ASD) and the single-nucleotide polymorphism rs2710102 (G/A) of CNTNAP2 is suggested to contribute to sub-threshold social impairments and intellectual disabilities. We recruited 67 children with Autistic disorder (AD) (49 boys, 18 girls, aged 38-98 months) and 57 typically developing (TD) children (34 boys, 23 girls, aged 53-90 months). We assessed the participants’ intelligence and social reciprocity using the Kaufman Assessment Battery for Children (K-ABC) and the Social Responsiveness Scale (SRS), respectively. Genomic DNA was extracted from the buccal mucosa and genotyped for rs2710102. A chi-square test revealed a significant association between genotype and group [χ2(2) = 6.56, p = 0.038]. When a co-dominant model was assumed, the results from linear regression models demonstrated that TD children with A-carriers (AA + AG) presented higher SRS T-scores [t(55) = 2.11, p = 0.039] and lower simultaneous processing scale scores of K-ABC [t(55) = -2.19, p = 0.032] than those with GG homozygotes. These associations were not significant in children with ASD. TD children with the rs2710102 A-allele may have more sub-threshold autistic traits than those with GG homozygotes, reflected in higher SRS scores and lower simultaneous processing scale scores. These results support the use of genetic evidence to detect sub-threshold autistic traits.

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24. Subach R, Sullivan J. « The Ram Chef program: Exploring perceptions of cooking independence and culinary abilities of young adults with disabilities and their caregivers ». Disability and health journal. 2022; 15(2): 101258.

BACKGROUND: Persons with intellectual/developmental disabilities (IDD) may struggle to achieve and manage independent living and may often require assistance from caregivers. Teaching adults with IDD to perform activities to promote independence, with the least amount of assistance, may improve their self-determination and independence. OBJECTIVE: The Ram Chefs program is a virtual culinary program designed to teach basic cooking skills to adults with IDD. The first purpose of this qualitative study was to explore differences in perception of cooking independence between young adults with IDD (N = 8) and parents/caregivers (N = 9). The second purpose was to evaluate the satisfaction and continue growth of the Ram Chefs program. METHODS: The Active Engagement Model provided the conceptual framework for this qualitative phenomenological study. To explore the shared experiences of the adults with IDD versus their parents/caregivers’ perception of meal choice and independence in preparation, one-on-one interviews were conducted. Focus groups were conducted to evaluate the satisfaction of the Ram Chefs program. Data were analyzed using focused coding, significant statement formulation, and development of structural descriptions. RESULTS: Three themes emerged: adults with IDD can cook easy-to-prepare meals independently, adults with IDD want total meal preparation independence, and parents/caregivers thought total meal preparation independence was achievable with assistance. There were no stated discrepancies between the adults with IDD and the parents/caregivers regarding their meal choice/preparation. Results indicated the young adults with IDD benefitted from the virtual culinary program and wanted to continue improving culinary skills, offering them more cooking independence and their parents/caregivers believe that this is possible. CONCLUSION: Increasing cooking independence for young adults with IDD may offer benefits including increased self-efficacy and self-determination, may improve nutrition education to support healthier eating, and increase employability in the food service arena.

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25. Tu T, Zhao C. Treating autism spectrum disorder by intervening with gut microbiota. Journal of medical microbiology. 2021; 70(12).

Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders with a high prevalence in childhood. The gut microbiota can affect human cognition and moods and has a strong correlation with ASD. Microbiota transplantation, including faecal microbiota transplantation (FMT), probiotics, breastfeeding, formula feeding, gluten-free and casein-free (GFCF) diet and ketogenic diet therapy, may provide satisfying effects for ASD and its related various symptoms. For instance, FMT can improve the core symptoms of ASD and gastrointestinal symptoms. Probiotics, breastfeeding and formula feeding, and GFCF diet can improve gastrointestinal symptoms. The core symptom score still needs to be confirmed by large-scale clinical randomized controlled studies. It is recommended to use a ketogenic diet to treat patients with epilepsy in ASD. At present, the unresolved problems include which of gut the microbiota are beneficial, which of the microorganisms are harmful, how to safely and effectively implant beneficial bacteria into the human body, and how to extract and eliminate harmful microorganisms before transplantation. In future studies, large sample and randomized controlled clinical studies are needed to confirm the mechanism of intestinal microorganisms in the treatment of ASD and the method of microbial transplantation.

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26. Wypyszyńska J, Zaboklicka N, Stachura M, Sito Z, Męcik-Kronenberg T. OPINIONS OF PARENTS OF CHILDREN WITH AUTISM SPECTRUM DISORDERS ON ART THERAPY IN THE IMPROVEMENT OF THEIR FUNCTIONING. Wiadomosci lekarskie (Warsaw, Poland : 1960). 2021; 74(10 pt 1): 2452-9.

OBJECTIVE: The aim: Our work aims to investigate the therapeutic effect of art on children and adolescents with autism spectrum disorder (ASD) up to the age of 18 and to disseminate knowledge about its use as a part of therapy. PATIENTS AND METHODS: Materials and methods: The authors created an anonymous online questionnaire addressed to parents and legal guardians of children and adolescents with and without ASD. The studied population comprised 190 subjects, of which 108 were a control group (children and adolescents without ASD) and 82 – a study group (children and adolescents with ASD). RESULTS: Results: Most respondents did not hear about the therapeutic use of art (59.5%). 20.73% of respondents with ASD participated in therapy using artistic activities. 82.4% participated in music therapy, 23.5% – in theater therapy, and 70.6% – in art therapy. These forms of therapy effectively improved disorders related to social relationships, speech, and atypical behavior. CONCLUSION: Conclusions: There is a positive therapeutic effect of art on children and adolescents with ASD. The therapeutic use of art among the respondents is not very widespread. Artistic activities have a positive impact on social relations, speech, and unusual behavior. Music and visual arts activities seem to positively impact social relationship disorders, while theater activities seem to impact speech disorders positively. Combining several arts in therapy is more beneficial than using just one. Art therapy is most often used at the age of 13 and older.

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27. Zhou W, Wu K, Chen S, Liu D, Xu H, Xiong X. Effect of Time Interval From Diagnosis to Treatment on Economic Burden in Families of Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 679542.

The study aimed to investigate the economic costs in families of children with autism spectrum disorder (ASD) and explored how the time interval from diagnosis to treatment time interval from the date children first diagnosed with ASD to the date of first speech/behavior treatment influenced the economic costs. It was a cross-sectional study that recruited families with autistic children in Changsha, Hunan Province of China during March to November 2018. A self-designed questionnaire was applied to collect ASD-related economic costs in the two vital periods including the 12-month period after diagnosis and the most recent 12 months during the course of ASD. In total, 136 families with autistic children completed the interview. The results showed that 46.3% of children started intervention within 1 month. The median of total economic costs of these families in the 12-month period after diagnosis and the most recent 12 months was 26,502.26 RMB and 29,411.91 RMB, respectively. Compared with the time interval shorter than 1 month, time interval over 6 months was significantly associated with high direct economic costs (β (SD) = 0.308, 95% CI = 0.177, 1.254), inpatient/outpatient and drugs costs (β (SD) = 0.276, 95% CI = 0.104, 1.181), direct non-medical costs (β (SD) = 0.287, 95% CI = 0.140, 1.206), and total economic burden (β (SD) = 0.311, 95% CI = 0.186, 1.262); besides, time interval between 4 and 6 months was significantly related to large indirect costs (β (SD) = 0.230, 95% CI = 0.098, 1.363) in the 12-month period after diagnosis. Similarly, time interval between 1 and 3 months was significantly associated with high direct non-medical costs (β (SD) = 0.198, 95% CI = 0.004, 1.013) in the 12-month period after diagnosis. However, time interval from diagnosis to treatment was not correlated to economic costs in the recent 12 months. In the long term, shortening the time interval from diagnosis to treatment would reduce the economic burden on families, especially in the 12-month period after diagnosis.

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