1. Cheung WC, Meadan H, Xia Y. A Longitudinal Analysis of the Relationships Between Social, Communication, and Motor Skills Among Students with Autism. Journal of autism and developmental disorders. 2021.

Many students with autism have difficulties engaging with their classroom environments and forming friendships, which are mostly affected by deficits in social, communication, and motor skills. The Special Education Elementary Longitudinal Study (SEELS, 2000) data set was used, focusing on elementary age students with autism, to explore the longitudinal relationships between social, communication, and motor skills and the mediating role of motor skills in between communication and social skills by using structural equational modeling analyses. Results show that (a) motor skills mediate the relationship between communication and social skills in elementary school, (b) there are significant longitudinal relationships among these skills in elementary school. Increased motor skills may improve social skills for students with autism in elementary school.

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2. Cui L, Du W, Xu N, Dong J, Xia B, Ma J, Yan R, Wang L, Feng F. Impact of MicroRNAs in Interaction With Environmental Factors on Autism Spectrum Disorder: An Exploratory Pilot Study. Frontiers in psychiatry. 2021; 12: 715481.

Background: This study aimed to explore the main effects of environmental risk factors as well as their interaction effects with miRNA on the risk of autism spectrum disorder (ASD). Methods: One hundred fifty-nine ASD children (ASD group) and 159 healthy children (control group), aged 2-6 years, were included in this study. ASD diagnoses were based on DSM-5 criteria. The extensive medical and demographic characterization of the two groups were recorded. MicroRNAs (miRNAs) in serum were detected by qRT-PCR. Results: Compared with the control group, the ASD group had significantly higher rates of maternal stress during pregnancy (p < 0.001), maternal drinking during pregnancy (p = 0.006), threatened abortion (p = 0.011), pregnancy-induced hypertension (p = 0.032), gestational diabetes (p = 0.039), maternal anemia during pregnancy (p < 0.001), umbilical cord knot (p < 0.001), neonatal jaundice (p < 0.001), family psychiatric history (p = 0.001), and much lower birth weight (p = 0.012). Furthermore, the ASD group had much lower expression levels of hsa-miR-181b-5p (p < 0.001) and hsa-miR-320a (p < 0.001) and significantly higher levels of hsa-miR-19b-3p (p < 0.001). The interactions of hsa-miR-320a and maternal stress during pregnancy (OR = 39.42, p < 0.001), hsa-miR-19b-3p and neonatal jaundice (OR = 2.44, p < 0.001), and hsa-miR-181b-5p and family psychiatric history (OR = 8.65, p = 0.001) could increase ASD risk. Conclusions: The dysregulation of hsa-miR-181b-5p, hsa-miR-320a, and hsa-miR-19b-3p could interact with environmental factors, such as maternal stress during pregnancy, neonatal jaundice, and family psychiatric history, to impact the risk of ASD.

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3. García-Ortiz MV, de la Torre-Aguilar MJ, Morales-Ruiz T, Gómez-Fernández A, Flores-Rojas K, Gil-Campos M, Martin-Borreguero P, Ariza RR, Roldán-Arjona T, Perez-Navero JL. Analysis of Global and Local DNA Methylation Patterns in Blood Samples of Patients With Autism Spectrum Disorder. Frontiers in pediatrics. 2021; 9: 685310.

The goal of this investigation was to determine whether there are alterations in DNA methylation patterns in children with autism spectrum disorder (ASD). Material and Methods: Controlled prospective observational case-control study. Within the ASD group, children were sub-classified based on the presence (AMR subgroup) or absence (ANMR subgroup) of neurodevelopmental regression during the first 2 years of life. We analyzed the global levels of DNA methylation, reflected in LINE-1, and the local DNA methylation pattern in two candidate genes, Neural Cell Adhesion Molecule (NCAM1) and Nerve Growth Factor (NGF) that, according to our previous studies, might be associated to an increased risk for ASD. For this purpose, we utilized blood samples from pediatric patients with ASD (n = 53) and their corresponding controls (n = 45). Results: We observed a slight decrease in methylation levels of LINE-1 in the ASD group, compared to the control group. One of the CpG in LINE-1 (GenBank accession no.X58075, nucleotide position 329) was the main responsible for such reduction, highly significant in the ASD subgroup of children with AMR (p < 0.05). Furthermore, we detected higher NCAM1 methylation levels in ASD children, compared to healthy children (p < 0.001). The data, moreover, showed higher NGF methylation levels in the AMR subgroup, compared to the control group and the ANMR subgroup. These results are consistent with our prior study, in which lower plasma levels of NCAM1 and higher levels of NGF were found in the ANMR subgroup, compared to the subgroup that comprised neurotypically developing children. Conclusions: We have provided new clues about the epigenetic changes that occur in ASD, and suggest two potential epigenetic biomarkers that would facilitate the diagnosis of the disorder. We similarly present with evidence of a clear differentiation in DNA methylation between the ASD subgroups, with or without mental regression.

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4. Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B. Polymicrogyria in a child with KCNMA1-related channelopathy. Brain & development. 2022; 44(2): 173-7.

BACK GROUND: Polymicrogyria is a malformation of cortical development with overfolding of the cerebral cortex and abnormal cortical layering. Polymicrogyria constitutes a heterogenous collection of neuroimaging features, neuropathological findings, and clinical associations, and is due to multiple underlying etiologies. In the last few years, some glutamate and sodium channelopathies have been associated with cortical brain malformations such as polymicrogyria. The potassium calcium-activated channel subfamily M alpha 1 (KCNMA1) gene encodes each of the four alpha-subunits that make up the large conductance calcium and voltage-activated potassium channel « Big K+ ». KCNMA1-related channelopathies are associated with various neurological abnormalities, including epilepsy, ataxia, paroxysmal dyskinesias, developmental delay and cognitive disorders. CASE REPORT: We report the observation of a patient who presented since the age of two months with drug-resistant epilepsy with severe developmental delay initially related to bilateral asymmetric frontal polymicrogyria. Later, exome sequencing revealed a de novo heterozygous variation in the KCNMA1 gene (c.112delG) considered pathogenic. CONCLUSION: This first case of polymicrogyria associated with KCNMA1-related channelopathy may expand the phenotypic spectrum of KCNMA1-related channelopathies and enrich the recently identified group of developmental channelopathies with polymicrogyria.

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5. Heras I, Amor AM, Verdugo M, Calvo MI. Operationalisation of quality of life for students with intellectual and developmental disabilities to improve their inclusion. Research in developmental disabilities. 2021; 119: 104093.

BACKGROUND: Quality of life (QoL) is regarded as a framework to enhance inclusive education outcomes in different domains for all students, especially for those with intellectual and developmental disabilities (IDD). Assessment tools are needed to implement this framework. Although there is a long trajectory of QoL assessment in people with IDD, we identify a lack of instruments for students with IDD who attend to general education contexts. AIMS: The goal of this study is to produce a pool of items in order to develop a field-test version of a QoL instrument for this target group. METHODS: 14 educational professionals participated in a four-round Delphi study, assessing the content of the items proposed according to four criteria (suitability, importance, observability and sensitivity). RESULTS: The results of this study provided evidence of content validity regarding the pool of items that will be included in a field-test version. CONCLUSIONS: The results obtained are important for the development of a QoL assessment tool to improve the inclusion of students with IDD in general education settings.

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6. Laghi L, Mastromarino P, Prosperi M, Morales MA, Calderoni S, Santocchi E, Muratori F, Guiducci L. Are Fecal Metabolome and Microbiota Profiles Correlated with Autism Severity? A Cross-Sectional Study on ASD Preschoolers. Metabolites. 2021; 11(10).

Autism spectrum disorders (ASD) make up a heterogeneous group of neurodevelopmental disorders characterized by social and communication difficulties associated with repetitive and restrictive behaviors. Besides core features, metabolic imbalances, inflammation, gastrointestinal (GI) symptoms, and altered gut microbiota composition were often described in association with ASD, but their connection with the severity of autism (SA) remains unexplored. In this study, fecal metabolome, microbiota, and calprotectin levels of 80 ASD preschoolers were quantified and correlated with SA. Twelve of the fifty-nine molecules that were quantified by fecal metabolome analysis were significantly associated with SA. No links between SA or GI symptoms and microorganisms’ relative abundance were highlighted. Significant correlations between bifidobacteria, Sutterella, lactobacilli relative abundance, and metabolomics profiles were found. These results suggest that fecal metabolome discriminates the SA and intestinal microorganisms mediate the link between metabolome and SA regardless of GI symptomatology. The study raises the possibility that grouping ASD populations through metabolomics and fecal microbiota could aid the identification of specific ASD endophenotypes, on the basis of the SA. Mechanistic studies focusing on detected biomarkers might be an option for future studies.

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7. Lewis EL, Tulina N, Anton L, Brown AG, Porrett PM, Elovitz MA. IFNγ-Producing γ/δ T Cells Accumulate in the Fetal Brain Following Intrauterine Inflammation. Frontiers in immunology. 2021; 12: 741518.

Intrauterine inflammation impacts prenatal neurodevelopment and is linked to adverse neurobehavioral outcomes ranging from cerebral palsy to autism spectrum disorder. However, the mechanism by which a prenatal exposure to intrauterine inflammation contributes to life-long neurobehavioral consequences is unknown. To address this gap in knowledge, this study investigates how inflammation transverses across multiple anatomic compartments from the maternal reproductive tract to the fetal brain and what specific cell types in the fetal brain may cause long-term neuronal injury. Utilizing a well-established mouse model, we found that mid-gestation intrauterine inflammation resulted in a lasting neutrophil influx to the decidua in the absence of maternal systemic inflammation. Fetal immunologic changes were observed at 72-hours post-intrauterine inflammation, including elevated neutrophils and macrophages in the fetal liver, and increased granulocytes and activated microglia in the fetal brain. Through unbiased clustering, a population of Gr-1+ γ/δ T cells was identified as the earliest immune cell shift in the fetal brain of fetuses exposed to intrauterine inflammation and determined to be producing high levels of IFNγ when compared to γ/δ T cells in other compartments. In a case-control study of term infants, IFNγ was found to be elevated in the cord blood of term infants exposed to intrauterine inflammation compared to those without this exposure. Collectively, these data identify a novel cellular immune mechanism for fetal brain injury in the setting of intrauterine inflammation.

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8. Lilley R, Lawson W, Hall G, Mahony J, Clapham H, Heyworth M, Arnold SR, Trollor JN, Yudell M, Pellicano E. ‘A way to be me’: Autobiographical reflections of autistic adults diagnosed in mid-to-late adulthood. Autism : the international journal of research and practice. 2021: 13623613211050694.

Using oral history methods, we interviewed and recorded 26 autistic adults in Australia about their life history. We wanted to better understand interviewees’ self-reflections about their lives. The interviewers were autistic researchers and the interviews were analysed by autistic and non-autistic researchers. All of the adults we interviewed were born before 1975 and formally identified as autistic after age 35 years. This group of people is sometimes referred to as ‘late-diagnosed autistic adults’. In general, there is not much research done about autistic adults and even less is known about those diagnosed late in life. In this article, we explore what these adults said about their sense of self and how that changed over time. These autistic adults told us about many negative experiences, including trauma, which had shaped how they think about themselves. For most, autism diagnosis had a very positive impact on their sense of self, allowing them to understand more about their own past and to feel good about their autistic identity. Previously some researchers have said that autistic people have a limited or impaired sense of self. Instead, our results show some autistic people can actually reflect deeply on their lives and their changing sense of self-identity over time.

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9. Mitchell LK, Davies PSW. Pre- and probiotics in the management of children with autism and gut issues: a review of the current evidence. European journal of clinical nutrition. 2021.

Manipulation of the gut microbiome offers a promising treatment option for children with autism spectrum disorder (ASD) for whom functional gastrointestinal disorders (FGIDs) are a common comorbidity. Both ASD and FGIDs have been linked to dysfunction of the microbiome-gut-brain (MGB) axis. Dysfunction of this bidirectional network has the ability to impact multiple host processes including gastrointestinal (GI) function, mood and behaviour. Prebiotic and probiotic supplementation aims to produce beneficial shifts within the gut environment, resulting in favourable changes to microbial metabolite production and gastrointestinal function. The aim of this review is to investigate the gut microbiome as a therapeutic target for children with ASD. Evidence for the utility of prebiotics, probiotics or synbiotics (i.e., prebiotic + probiotic) among this cohort is examined. Electronic databases (PubMed, Web of Science, Medline and clinicaltrials.gov) were searched using keywords or phrases to review the literature from 1 January 2010 to 30 October 2020. Findings suggest limited, but preliminary evidence of efficacy in relieving GI distress, improving ASD-associated behaviours, altering microbiota composition, and reducing inflammatory potential.

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10. Odo VO, Ukeme WV, Nwanosike LC, Karatu BA, Urama SI, Nzenwaku JU. Moderating role of motivational preference in the relationship between attachment quality and emotional empathy among autistic caregivers. Psychology, health & medicine. 2021: 1-9.

The study investigated the moderating role of motivational preference in the relationship between attachment quality and emotional empathy among sixty-five autistic caregivers (42 males and 23 females). Participants were drawn from Therapeutic Inclusive Nursery, Primary, and Secondary School in Abakpa Nike, Enugu State, Nigeria. Attachment Quality Scale, Work Preference Inventory Scale, and Emotional Empathy Scale were used in the study. Hayes PROCESS macro regression-based, path-analytical framework was employed to analyse the data. Motivational preference and the four dimensions of attachment quality predicted emotional empathy. Motivational preference did not moderate the relationship between security, avoidance and ambivalent worry dimensions of attachment quality and emotional empathy. Motivational preference moderated the relationship between ambivalent merger and emotional empathy (β = -.14, t = -3.15, p = <.05). Ambivalent merger predicted emotional empathy for those with low motivational preference (β = 7.22, p = <.05), moderate motivational preference (β = 3.07, p = < .05), and for those with high motivational preference (β = 1.01, p = <.05). Implications and limitations of the findings were discussed and suggestions for further studies were made.

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11. Pickles K. Workplace stressors for autistic vets. The Veterinary record. 2021; 189(8): 329.

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12. Prigge MBD, Bigler ED, Lange N, Morgan J, Froehlich A, Freeman A, Kellett K, Kane KL, King CK, Taylor J, Dean DC, 3rd, King JB, Anderson JS, Zielinski BA, Alexander AL, Lainhart JE. Longitudinal Stability of Intellectual Functioning in Autism Spectrum Disorder: From Age 3 Through Mid-adulthood. Journal of autism and developmental disorders. 2021.

Intelligence (IQ) scores are used in educational and vocational planning for individuals with autism spectrum disorder (ASD) yet little is known about the stability of IQ throughout development. We examined longitudinal age-related IQ stability in 119 individuals with ASD (3-36 years of age at first visit) and 128 typically developing controls. Intelligence measures were collected over a 20-year period. In ASD, Full Scale (FSIQ) and Verbal (VIQ) Intelligence started lower in childhood and increased at a greater rate with age relative to the control group. By early adulthood, VIQ and working memory stabilized, whereas nonverbal and perceptual scores continued to change. Our results suggest that in individuals with ASD, IQ estimates may be dynamic in childhood and young adulthood.

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13. Reis SM, Gelbar NW, Madaus JW. Understanding the Academic Success of Academically Talented College Students with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2021.

Little is known about the academic and extra-curricular experiences of academically talented students with Autism Spectrum Disorder (ASD). This study focused on how these capable students with ASD successfully navigated and completed high school, and specifically, the experiences that enabled them to attend competitive colleges. Using comparative case studies and directed content analysis, data were derived from semi-structured interviews with 40 students who had been identified as academically talented with ASD, and were enrolled in, or recently graduated from, highly competitive colleges in the United States. The majority were identified as having academic talents, participated in challenging honors classes, enrichment opportunities, interest-based extra-curricular activities, residential summer programs, and pursued other advanced educational experiences. Implications for educational and talent development services are included.

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14. Rodgers J. Re: Caron et al. (2021) sociocultural context and autistics quality of life: A comparison between Quebec and France. Autism : the international journal of research and practice. 2021: 13623613211053667.

The purpose of this letter to the editors is to highlight to the readership of Autism the recommended use of the Autism Quality of Life measure for research with autistic adults. The Autism Quality of Life was developed for use alongside the WHOQoL-BREF and WHO Disabilities module. The letter raises some concerns about the use of the Autism Quality of Life as a stand-alone measure in a recent study by Caron et al. published in Autism.

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15. Sajdeya R, Brown JD, Goodin AJ. Perinatal Cannabis Exposures and Autism Spectrum Disorders. Medical cannabis and cannabinoids. 2021; 4(1): 67-71.

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16. Simpson S, Eadie T, Khoo ST, Titmuss A, Maple-Brown LJ, Thompson R, Wunungmurra A, Jeyaseelan D, Dunham M, D’Aprano A. The ASQ-TRAK: Validating a culturally adapted developmental screening tool for Australian Aboriginal children. Early human development. 2021; 163: 105481.

BACKGROUND: Developmental monitoring, performed using culturally relevant tools, is of critical importance for all young children. The ASQ-TRAK is the culturally and linguistically adapted Ages and Stages Questionnaire (ASQ-3), a developmental screening tool, for Australian Aboriginal children. While the ASQ-TRAK has been well received in practice, investigating its psychometric properties will enable professionals to make informed decisions about its use. AIMS: To conduct a rigorous validation study of the ASQ-TRAK by applying Kane’s argument-based approach. SUBJECTS: The ASQ-TRAK, Bayley-III and/or BDI-2 were administered cross-sectionally to 336 Australian Aboriginal children aged 2-48 months across ten participating sites in the Northern Territory and South Australia. A sample of staff and caregivers completed feedback surveys about the ASQ-TRAK. RESULTS: ASQ-TRAK domain scores were moderately positively correlated with corresponding domain scores on the Bayley-III or BDI-2. Inter-rater and inter-instrument reliability were high. Sensitivity (83%), specificity (83%) and negative predictive value (99%) were acceptable. Staff and caregivers expressed high levels of satisfaction with the ASQ-TRAK. CONCLUSIONS: Regular developmental screening can provide important information about developmental vulnerability and the need for services. The ASQ-TRAK should be administered by trained Aboriginal community-based workers and the implementation approach carefully planned. Areas for future research include longitudinal follow-up of children, investigating existing norms and cut-off scores, and considering the appropriateness of the ASQ-TRAK with Aboriginal people from different locations. The ASQ-TRAK has the potential to fill an important gap by enabling better access to high-quality developmental monitoring and targeted early intervention.

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17. Sulek R, Smith J, Bent CA, Hudry K, Trembath D, Vivanti G, Dissanayake C. The utility of LENA as an indicator of developmental outcomes for young children with autism. International journal of language & communication disorders. 2022; 57(1): 103-11.

BACKGROUND: There is growing understanding of the potential benefits of a multi-method approach to accurately capture language skills of children on the autism spectrum. Tools such as Language ENvironment Analysis (LENA) provide an efficient means of capturing and analysing early child vocalizations (CVs) and the language learning environment. While developed to capture whole-day recordings of child language in naturalistic settings, there is potential utility in capturing, but little knowledge about, primary LENA metrics-including CVs and conversational turns (CTs)-and novel metrics, such as vocalization ratios (VRs), sampled in clinical practice settings where children are often seen. Moreover, recent research indicates that the novel VR may offer a broad indicator of children’s developmental level, beyond just their language abilities, a hypothesis yet to be investigated in a large sample of children for whom the LENA was designed (i.e., pre-schoolers). AIMS: To explore the extent to which primary and novel LENA metrics collected during brief one-to-one clinical interaction was a useful indicator of developmental outcomes for children on the autism spectrum. METHODS & PROCEDURES: Participants were recruited as part of an on-going research programme evaluating early intervention outcomes (n = 99; age 14-47 months). Language samples were collected at intake (T1) using the wearable LENA Digital Language Processors during a one-to-one, play-based assessment with a clinician. Direct (Mullen Scales of Early Learning-MSEL) and parent-report (Vineland Adaptive Behavior Scales-VABS) measures of verbal and non-verbal skills were also collected at intake (T1) and again at exit (T2), approximately 12 months later. OUTCOMES & RESULTS: Few correlations were observed between child measures and CVs, a primary LENA metric. The novel VR metric was associated with concurrent direct assessment (MSEL) (and to a lesser extent parent report; VABS) measures of verbal and non-verbal skills, with moderate positive correlations found between VRs and all directly assessed subscale scores. However, VRs did not uniquely contribute to the prediction of child outcomes when baseline skills were also considered. CONCLUSIONS & IMPLICATIONS: The novel VR may provide an insight into autistic children’s overall development in addition to their language ability, suggesting that even when collected in a short recording format, LENA might be a useful component of a multi-method assessment approach. WHAT THIS PAPER ADDS: What is already known on the subject To accurately capture language skills of children on the autism spectrum, multi-method approaches, including natural language sampling, are recommended. Tools such as LENA provide an efficient means of capturing and analysing naturalistic child language and the language learning environment. What this paper adds to existing knowledge This study demonstrates the potential benefits, and limitations, of using LENA to augment assessment of young children on the autism spectrum. Specifically, LENA provides a complementary, and low burden, method for capturing child language samples. What are the potential or actual clinical implications of this work? Novel metrics, such as the VR, collected during brief clinical interactions might be a useful component of a multi-method assessment approach for children on the autism spectrum.

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18. Thoen A, Steyaert J, Alaerts K, Van Damme T. Evaluating the potential of respiratory-sinus-arrhythmia biofeedback for reducing physiological stress in adolescents with autism: study protocol for a randomized controlled trial. Trials. 2021; 22(1): 730.

BACKGROUND: Prior evidence points towards lower cardiac vagal modulation in individuals with autism spectrum disorder (ASD) as compared to control groups. A cross-sectional phase in this study will gather more evidence concerning this topic. A longitudinal phase will explore the efficacy of a biofeedback intervention based on respiratory sinus arrhythmia (RSA) in adolescents with ASD. Finally, a feasibility study will focus on a non-supervised RSA biofeedback intervention in this population. METHODS: The cross-sectional phase includes the comparison of adolescents with ASD (n=38) and age- and gender-matched typically developing peers. A standardized assessment will be used which contains physiological, cortisol, and behavioral measurements. The longitudinal phase contains a randomized, single-blinded, and sham-controlled design to determine the efficacy of supervised RSA biofeedback in adolescents with ASD (n=128). A follow-up phase of 5 weeks is included to evaluate the presence of retention effects. During the latter, a feasibility study will focus on a non-supervised intervention (n=64). Assessments as described previously are scheduled after the intervention and the follow-up phase. DISCUSSION: First, more conclusive evidence will be provided for the presence of lower cardiac vagal modulation in adolescents with ASD as well as the association between these lower values and physiological and behavioral indices. Second, the supervised intervention in adolescents with ASD is hypothesized to upregulate this cardiac vagal modulation and positively change behavioral and physiological parameters. Third, evidence regarding the feasibility and acceptability of a non-supervised intervention may open novel avenues for home-based interventions in this population. TRIAL REGISTRATION: ClinicalTrials.gov NCT04628715 . Registered on 13 November 2020.

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