1. Abeasi DA, Nkosi NG, Suglo JN. Well-being focused interventions for caregivers of children with developmental disabilities: a scoping review protocol. BMJ open. 2023; 13(4): e066179.

INTRODUCTION: Children with developmental disability (DD) may depend on their family caregivers to fulfil their complex health needs. Family caregivers are generally described as persons providing unpaid for services for the child with DD at home who need to be supported in a manner that supports and promotes his/her well-being. This review aims to identify and map the range of interventions available for caregivers of children between the ages of 5-16 with DD. METHODS AND ANALYSIS: The methodological framework for conducting scoping review as published by Arksey and O’Malley and the Joanna Briggs Institute’s guidelines will used in this study. Primary research articles will be obtained through a systematic search of CINAHL, Psych INFO, PubMed, ERIC and COCHRANE Library. Further grey literature will be obtained from Google Scholar search. Study selection process will be done by two independent researchers based on a predetermined inclusion criteria. Review findings comprising interventions, intervention components and outcomes will be presented using tables and narrative text. DISCUSSION: The proposed scoping review will give an extensive review of interventions aimed at improving the well-being of caregivers of children with DD. This scoping review would provide recommendations on interventions that have significantly improved the well-being caregivers of children with DD. Additionally, the review would guide future work on intervention development and primary research in this field. REGISTRATION: This scoping review protocol has been registered with the Open Science Framework (https://osf.io/tkbrh).

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2. Abu Itham M, Kerpan S, Balogh R, Lloyd M. Parent Descriptions of the Active Play Behaviors of Their Twins and Triplets With Autism. Adapted physical activity quarterly : APAQ. 2023: 1-19.

Children with autism engage in active play in different ways than children who are neurotypical, but their active play behaviors are not well understood. Research with twins and triplets with autism offers a unique opportunity to gain a clear picture of the play behaviors of children with autism because twins and triplets share many similarities (age, access to toys, etc.). Through semistructured interviews, this descriptive phenomenological study aimed to describe the active play behaviors of 19 twins and triplets with autism from the perspective of their parents (N = 9). The interviews revealed two main themes: (a) parents’ descriptions of active play and (b) parents’ descriptions of social play. The results reveal the diverse active and social play behaviors of twins and triplets with autism; parents described their children’s play behavior when engaging in sensory, indoor, outdoor, and organized play. These results suggest that children with autism may be meeting the definition of active play in nontraditional ways.

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3. Curley K, Kotera Y. Qualitative Investigation into the Perception towards Compassionate Parenting among Parents of Autistic Children: Cross-Cultural Comparison between the UK and The Netherlands. Healthcare (Basel, Switzerland). 2023; 11(8).

Parenting a child with autism spectrum disorder is believed to present challenges that lead to increased levels of stress, as well as a reduction in the quality of the relationship between parent and child. This study aims to investigate parental perceptions toward a compassionate parenting style of parenting to better understand how this style may influence relationships and quality of life in parents. Parents from the United Kingdom (six parents) and the Netherlands (five parents) were invited take part in semi-structured interviews, whereby the data collected were subsequently analysed using thematic analysis. Data from both British and Dutch groups were overall similar to each other. Four themes were identified from the aggregated data: (a) « Parents believe compassionate parenting is important » (parents believed that compassion is an essential element of their parenting style and improves situational outcomes); (b) « Compassionate parenting de-escalates stressful situations » (compassionate parenting reduces stress and improves the quality of life); (c) « High pressure situations as a threat to practice compassion » (challenges and limitations to compassionate parenting style); and (d) « Greater public and professional awareness of autistic behaviours » (the general public and professional services often lack awareness to recognise autistic behaviour traits). Results are consistent with research examining the perceptions of parents of neurotypical children, in that a more compassionate approach to parenting is valued, as it is believed to create a greater connection with the child. Our findings inform researchers and educators as to what parents of children with ASD find useful, important, and worthwhile. Future research needs to investigate how compassionate parenting impacts autistic children’s quality of life.

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4. Daniels N, Moerkerke M, Steyaert J, Bamps A, Debbaut E, Prinsen J, Tang T, Van der Donck S, Boets B, Alaerts K. Effects of multiple-dose intranasal oxytocin administration on social responsiveness in children with autism: a randomized, placebo-controlled trial. Molecular autism. 2023; 14(1): 16.

BACKGROUND: Intranasal administration of oxytocin is increasingly explored as a new approach to facilitate social development and reduce disability associated with a diagnosis of autism spectrum disorder (ASD). The efficacy of multiple-dose oxytocin administration in children with ASD is, however, not well established. METHODS: A double-blind, randomized, placebo-controlled trial with parallel design explored the effects of a 4-week intranasal oxytocin administration (12 IU, twice daily) on parent-rated social responsiveness (Social Responsiveness Scale: SRS-2) in pre-pubertal school-aged children (aged 8-12 years, 61 boys, 16 girls). Secondary outcomes included a questionnaire-based assessment of repetitive behaviors, anxiety, and attachment. Effects of oxytocin were assessed immediately after the administration period and at a follow-up, 4 weeks after the last administration. The double-blind phase was followed by a 4-week single-blind phase during which all participants received intranasal oxytocin. RESULTS: In the double-blind phase, both the oxytocin and placebo group displayed significant pre-to-post-improvements in social responsiveness and secondary questionnaires, but improvements were not specific to the intranasal oxytocin. Notably, in the single-blind phase, participants who were first allocated to intranasal placebo and later changed to intranasal oxytocin displayed a significant improvement in social responsiveness, over and above the placebo-induced improvements noted in the first phase. Participants receiving oxytocin in the first phase also showed a significant further improvement upon receiving a second course of oxytocin, but only at the 4-week follow-up. Further, exploratory moderator analyses indicated that children who received psychosocial trainings (3 or more sessions per month) along with oxytocin administration displayed a more pronounced improvement in social responsiveness. LIMITATIONS: Future studies using larger cohorts and more explicitly controlled concurrent psychosocial trainings are warranted to further explore the preliminary moderator effects, also including understudied populations within the autism spectrum, such as children with co-occurring intellectual disabilities. CONCLUSIONS: Four weeks of oxytocin administration did not induce treatment-specific improvements in social responsiveness in school-aged children with ASD. Future studies are warranted to further explore the clinical efficacy of oxytocin administration paired with targeted psychosocial trainings that stimulate socio-communicative behaviors. Trial registration The trial was registered with the European Clinical Trial Registry (EudraCT 2018-000769-35) on June 7th, 2018 ( https://www.clinicaltrialsregister.eu/ctr-search/trial/2018-000769-35/BE ).

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5. de Marchena A, Wieckowski AT, Algur Y, Williams LN, Fernandes S, Thomas RP, McClure LA, Dufek S, Fein D, Stahmer AC, Robins DL. Initial diagnostic impressions of trainees during autism evaluations: High specificity but low sensitivity. Autism research : official journal of the International Society for Autism Research. 2023.

Reducing the age of first autism diagnosis facilitates access to critical early intervention services. A current « waitlist crisis » for autism diagnostic evaluation thus demands that we consider novel use of available clinical resources. Previous work has found that expert autism clinicians can identify autism in young children with high specificity after only a brief observation; rapid identification by non-experts remains untested. In the current study, 252 children ages 12-53 months presented for a comprehensive autism diagnostic evaluation. We found that junior clinicians in training to become autism specialists (n = 29) accurately determined whether or not a young child would be diagnosed with autism in the first five minutes of the clinic visit in 75% of cases. Specificity of brief observations was high (0.92), suggesting that brief observations may be an effective tool for triaging young children toward autism-specific interventions. In contrast, the lower negative predictive value (0.71) of brief observations, suggest that they should not be used to rule out autism. When trainees expressed more confidence in their initial impression, their impression was more likely to match the final diagnosis. These findings add to a body of literature showing that clinical observations of suspected autism should be taken seriously, but lack of clinician concern should not be used to rule out autism or overrule other indicators of likely autism, such as parent concern or a positive screening result.

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6. Goyal T, Kalra N, Tyagi R, Khatri A, Sabherwal P, Yangdol P. Evidence-based analysis of multi-pronged approaches for education and behavior management of autistic patients in a dental setting. 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. 2023.

BACKGROUND: Autism spectrum disorder is a neurodevelopmental condition which has posed a challenge to carers, pediatricians and dentists through the years. Over the last four decades, the disorder has been better understood and management techniques have evolved. In the field of dentistry, the autistic child presents difficulty in management, even for the simplest dental procedures. A comprehensive understanding of other psychoeducational and behavioral approaches to manage autism is very important. This article aims to introduce various important key techniques such as Applied Behavior Analysis, TEACCH, Sensory Adapted Dental Environment, Picture Exchange Communication System, and Animal Assisted Therapy and analyze their application in dentistry. METHODS: A search of literature was carried out in Clinicaltrials.gov, Medline and Scopus with the search terms « Applied Behavior Analysis, » « TEACCH, » « Sensory Adapted Dental Environment, » « Picture Exchange Communication System, » and « Animal Assisted Therapy » along with « autism OR autistic, » « dental OR dentistry OR oral health. » After the screening for inclusion and exclusion criteria, 10 eligible articles were included, in English, published within the last 10 years. RESULTS: Limited research was available regarding these lesser-known behavioral approaches in dentistry. The few that were available showed encouraging results. The different techniques proved useful in increasing acceptance of dental treatment and reducing behavioral disturbances. The patients experienced reduced dental anxiety, lesser discomfort, improved communication, and knowledge. CONCLUSION: Pediatric and special care dentists are likely to benefit by incorporating the recommended comprehensive behavior management techniques in their practice. There is evidence that these techniques will reduce behavioral disturbances in autistic children thereby making primary dental care possible without the need for sedation or general anesthesia.

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7. Iverson JM, West KL, Schneider JL, Plate SN, Northrup JB, Roemer Britsch E. Early development in autism: How developmental cascades help us understand the emergence of developmental differences. Advances in child development and behavior. 2023; 64: 109-34.

Many theories of autism spectrum disorder (ASD) focus on a single system or factor as an explanatory mechanism for autism symptoms and behavior. However, there is growing recognition that ASD is a complex, multisystem neurodevelopmental condition with origins in prenatal life. Researchers therefore need a conceptual framework that allows examination of the interplay between multiple interacting domains and systems and the ways in which they extend their influence beyond the individual into the surrounding environment. The developmental cascades perspective suggests that even relatively small perturbations in early emerging behaviors in domains that are not traditionally linked may influence subsequent achievements across these areas. In this chapter, we illustrate how a developmental cascades framework can be used to inform the study of developmental differences. The developmental cascades perspective provides us with conceptual and methodological tools for considering how variation in children’s real time behavior can provide new insights into sources of variation in their developmental trajectories and outcomes. It also suggests approaches for intervention that leverage targeted skills in novel ways, creating opportunities to support development in other domains and fine-tune caregiver behavior to create powerful moments for infant learning.

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8. Kim SA, Kasari C. Working memory of school-aged children on the autism spectrum: Predictors for longitudinal growth. Autism : the international journal of research and practice. 2023: 13623613231165599.

Working memory is an important skill for school success, and it involves holding information in our memory while using it to solve complex problems at the same time. Autistic children often have difficulty with working memory. Because working memory development can be easily influenced by many factors from a young age, it is important to find factors that help with autistic children’s development. This study tested the factors that are related to autistic children’s working memory when they start kindergarten and the factors that can help with rapid improvement throughout their elementary school. We used a nationally representative data set that followed the same group of children from kindergarten to fifth grade. We found that autistic students from backgrounds with more resources and students with advanced learning approaches such as being organized, being excited to learn, and paying careful attention to their work, started school with strong working memory. Autistic students with advanced learning approaches continued to make rapid improvements during the first 3 years, and then their growth slowed down during the last 3 years. Autistic students who had a good relationship with their teachers made rapid improvements during the last 3 years of their elementary school. In addition, autistic children who struggled with working memory upon school entry were more likely to receive special education services at school. These findings suggest that we need effective ways to teach young autistic children important learning-related behaviors from a very young age through the school system, and teachers must prioritize building positive relationships with their students.

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9. Kuhaneck HM, Watling R, Glennon TJ. Ayres Sensory Integration® for Addressing Play in Autistic Children: A Multiple-Baseline Examination. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Play is an area of difficulty for autistic children, and occupational therapy practitioners need evidence to guide interventions to improve play for this population. Ayres Sensory Integration® (ASI) intervention has not yet been studied for its impact on play outcomes. OBJECTIVE: To examine the impact of ASI intervention on play types in autistic children. DESIGN: Nonconcurrent, multiple-baseline design across subjects. SETTING: Outpatient occupational therapy clinic in New England. PARTICIPANTS: Three autistic children, ages 5, 6, and 6 yr. INTERVENTION: Twenty-four ASI sessions. OUTCOMES AND MEASURES: Frequency of play type was coded using partial interval coding. Progress monitoring used Goal Attainment Scaling. RESULTS: All three participants demonstrated changes in the frequency of specific types of play, but changes varied among them. CONCLUSIONS AND RELEVANCE: Findings suggest that ASI intervention may alter a child’s patterns of play. What This Article Adds: This study is the first to examine the impact of ASI on play and the third that documents the feasibility of single-subject research for studying ASI. If confirmed in future studies, ASI could become an evidence-based intervention for improving play, an important outcome for autistic children and the profession of occupational therapy. Positionality Statement: This article uses the identity-first language autistic people. This nonableist language describes their strengths and abilities and is a conscious decision. This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021; Kenny et al., 2016).

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10. Leisman G, Melillo R, Melillo T. Prefrontal functional connectivities in autism spectrum disorders: A connectopathic disorder affecting movement, interoception, and cognition. Brain research bulletin. 2023; 198: 65-76.

The prefrontal cortex is included in a neuronal system that includes the basal ganglia, the thalamus, and the cerebellum. Most of the higher and more complex motor, cognitive, and emotional behavioral functions are thought to be found primarily in the frontal lobes. Insufficient connectivity between the medial prefrontal cortex (mPFC) and other regions of the brain that are distant from each other involved in top-down information processing rely on the global integration of data from multiple input sources and enhance low level perception processes (bottom-up information processing). The reduced deactivation in mPFC and in the rest of the Default Network during global task processing is consistent with the integrative modulatory role served by the mPFC. We stress the importance of understanding the degree to which sensory and movement anomalies in individuals with autism spectrum disorder (ASD) can contribute to social impairment. Further investigation on the neurobiological basis of sensory symptoms and its relationship to other clinical features found in ASD is required Treatment perhaps should not be first behaviorally based but rather based on facilitating sensory motor development.

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11. Li F, Shen Y, Li T. Editorial: Horizons of autism spectrum disorder and attention deficit hyperactivity disorder in clinical practice. Frontiers in psychiatry. 2023; 14: 1168785.

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12. Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L, Dion PA, Rouleau GA, Zhang B, Brennand KJ, Talkowski ME, Ruderfer DM. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies. Cell genomics. 2023; 3(4): 100277.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder characterized by deficits in social interactions and communication. Protein-altering variants in many genes have been shown to contribute to ASD; however, understanding the convergence across many genes remains a challenge. We demonstrate that coexpression patterns from 993 human postmortem brains are significantly correlated with the transcriptional consequences of CRISPR perturbations in human neurons. Across 71 ASD risk genes, there was significant tissue-specific convergence implicating synaptic pathways. Tissue-specific convergence was further demonstrated across schizophrenia and atrial fibrillation risk genes. The degree of ASD convergence was significantly correlated with ASD association from rare variation and differential expression in ASD brains. Positively convergent genes showed intolerance to functional mutations and had shorter coding lengths than known risk genes even after removing association with ASD. These results indicate that convergent coexpression can identify potentially novel genes that are unlikely to be discovered by sequencing studies.

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13. Mares Beltran CF, Nesheiwat N. Marfan Syndrome Incorrectly Diagnosed as Autism. Pediatrics. 2023; 151(5).

Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and ocular systems, which have abundant connective tissue. It is not known to affect the central nervous system, therefore developmental delays or cognitive involvement are not typically associated. We present a case of a 2-year-old Hispanic male who was diagnosed with autism spectrum disorder (ASD) because of poor social interaction, lack of eye contact, and speech delays. Several months after the ASD diagnosis and receiving therapies without improvement, he was unexpectedly found to have severe myopia and bilateral ectopia lentis. These findings prompted further evaluation that subsequently led to a clinical and molecular diagnosis of Marfan syndrome. After correction of his refractive error, his social skills and eye contact had significantly improved and his speech gradually caught up and resolved to a normal level for his age. This report emphasizes the need for comprehensive investigation of children with delays to include ocular assessments before determining ASD in the context of developmental delays.

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14. Muellerleile J, Vnencak M, Sethi MVA, Jungenitz T, Schwarzacher SW, Jedlicka P. Increased Network Inhibition in the Dentate Gyrus of Adult Neuroligin-4 Knock-Out Mice. eNeuro. 2023; 10(4).

Loss-of-function mutations in neuroligin-4 (Nlgn4), a member of the neuroligin family of postsynaptic adhesion proteins, cause autism spectrum disorder in humans. Nlgn4 knockout (KO) in mice leads to social behavior deficits and complex alterations of synaptic inhibition or excitation, depending on the brain region. In the present work, we comprehensively analyzed synaptic function and plasticity at the cellular and network levels in hippocampal dentate gyrus of Nlgn4 KO mice. Compared with wild-type littermates, adult Nlgn4 KO mice exhibited increased paired-pulse inhibition of dentate granule cell population spikes, but no impairments in excitatory synaptic transmission or short-term and long-term plasticity in vivo In vitro patch-clamp recordings in neonatal organotypic entorhino-hippocampal slice cultures from Nlgn4 KO and wild-type littermates revealed no significant differences in excitatory or inhibitory synaptic transmission, homeostatic synaptic plasticity, and passive electrotonic properties in dentate granule cells, suggesting that the increased inhibition in vivo is the result of altered network activity in the adult Nlgn4 KO. A comparison with prior studies on Nlgn 1-3 knock-out mice reveals that each of the four neuroligins exerts a characteristic effect on both intrinsic cellular and network activity in the dentate gyrus in vivo.

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15. Murari K, Abushaibah A, Rho JM, Turner RW, Cheng N. A clinically relevant selective ERK-pathway inhibitor reverses core deficits in a mouse model of autism. EBioMedicine. 2023; 91: 104565.

BACKGROUND: Extracellular signal-regulated kinase (ERK/MAPK) pathway in the brain is hypothesized to be a critical convergent node in the development of autism spectrum disorder. We reasoned that selectively targeting this pathway could reverse core autism-like phenotype in animal models. METHODS: Here we tested a clinically relevant, selective inhibitor of ERK pathway, PD325901 (Mirdametinib), in a mouse model of idiopathic autism, the BTBR mice. FINDINGS: We report that treating juvenile mice with PD325901 reduced ERK pathway activation, dose and duration-dependently reduced core disease-modeling deficits in sociability, vocalization and repetitive behavior, and reversed abnormal EEG signals. Further analysis revealed that subchronic treatment did not affect weight gain, locomotion, or neuronal density in the brain. Parallel treatment in the C57BL/6J mice did not alter their phenotype. INTERPRETATION: Our data indicate that selectively inhibiting ERK pathway using PD325901 is beneficial in the BTBR model, thus further support the notion that ERK pathway is critically involved in the pathophysiology of autism. These results suggest that a similar approach could be applied to animal models of syndromic autism with dysregulated ERK signaling, to further test selectively targeting ERK pathway as a new approach for treating autism. FUNDING: This has beenwork was supported by Alberta Children’s Hospital Research Foundation (JMR & NC), University of Calgary Faculty of Veterinary Medicine (NC), Kids Brain Health Network (NC), and Natural Sciences and Engineering Research Council of Canada (NC).

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16. Myhren L, Pawlowski A, Schwob A, Bull VH. Development and evaluation of an individualised dental habituation programme for children with autism spectrum disorder living in Rogaland, Norway. European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry. 2023.

PURPOSE: To develop and evaluate an individualised habituation programme for children with autism spectrum disorder (ASD) to enhance their cooperation during a routine dental examination. METHODS: In collaboration with school personnel, we developed and evaluated a research-based habituation programme comprising a toolbox with aids (pictures, videos, appliances, social stories) for preparations and gradual exposure to a 10-step dental examination. The habituation programme was subjected to a small-scale evaluation involving 17 children with ASD living in Rogaland, Norway. Changes in cooperation were registered using Frankl behaviour rating scale. Further, school personnel were interviewed using semi-structured interviews, and the data obtained were analysed through content analysis. RESULTS: Fourteen children (82%) completed the dental examination. Compared to previous accomplishments reported by the caregivers, an increased number of children completed the examination with a mirror and probe and were able to take an X-ray with good compliance following the habituation programme. The registration of cooperation (Frankl score) during each session indicated varying progression rates. Further, changing the dentist did not influence compliance, and most children showed a similar level of cooperation towards the dental examination one year later. Further, school personnel highlighted the need for preparations that could facilitate control and the importance of catering to individual needs. CONCLUSION: An individualised approach combining preparations and behavioural methods in close collaboration with school personnel can increase cooperation during a dental examination in children with ASD.

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17. Pan PY, Taylor MJ, Larsson H, Almqvist C, Lichtenstein P, Lundström S, Bölte S. Genetic and environmental contributions to co-occurring physical health conditions in autism spectrum condition and attention-deficit/hyperactivity disorder. Molecular autism. 2023; 14(1): 17.

BACKGROUND: Autism spectrum condition and attention-deficit/hyperactivity disorder (ADHD) are associated with a range of physical health conditions. The aim of this study was to examine the etiological components contributing to co-occurring physical health conditions in autism and ADHD. METHODS: In this nationwide Child and Adolescent Twin Study in Sweden, we analyzed data from 10,347 twin pairs aged 9 and 12. Clinical diagnoses of autism, ADHD, and physical health conditions were identified through the Swedish National Patient Register. Subclinical phenotypes of autism and ADHD were defined by symptom thresholds on a standardized parent-interview, the Autism-Tics, ADHD, and Other Comorbidities inventory. Associations between physical health conditions and autism/ADHD phenotypes were examined using generalized estimating equations. Bivariate twin models were applied to estimate the extent to which genetic and environmental risk factors accounted for physical health comorbidities. RESULTS: Similar patterns of association with physical health conditions were found in clinical and subclinical autism/ADHD, with odds ratios ranging from 1.31 for asthma in subclinical ADHD to 8.03 for epilepsy in clinical autism. The estimated genetic correlation (r(a)) with epilepsy was 0.50 for clinical autism and 0.35 for subclinical autism. In addition, a modest genetic correlation was estimated between clinical autism and constipation (r(a) = 0.31), functional diarrhea (r(a) = 0.27) as well as mixed gastrointestinal disorders (r(a) = 0.30). Genetic effects contributed 0.86 for mixed gastrointestinal disorders in clinical ADHD (r(a) = 0.21). Finally, subclinical ADHD shared genetic risk factors with epilepsy, constipation, and mixed gastrointestinal disorders (r(a) = 0.30, 0.17, and 0.17, respectively). LIMITATIONS: Importantly, since medical records from primary care were not included in the registry data used, we probably identified only more severe rather than the full range of physical health conditions. Furthermore, it needs to be considered that the higher prevalence of physical health conditions among autistic children and children with ADHD could be associated with the increased number of medical visits. CONCLUSIONS: Shared genetic effects contribute significantly to autism and ADHD phenotypes with the co-occurring physical health conditions across different organ systems, including epilepsy and gastrointestinal disorders. The shared genetic liability with co-occurring physical health conditions was present across different levels of autism and ADHD symptom severity.

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18. Rasero J, Jimenez-Marin A, Diez I, Toro R, Hasan MT, Cortes JM. The neurogenetics of functional connectivity alterations in Autism: Insights from subtyping in 657 patients. Biological psychiatry. 2023.

BACKGROUND: There is little consensus and controversial evidence on anatomical alterations in the brain of patients with autism spectrum disorder (ASD), due in part to the large heterogeneity present in ASD, which in turn is a major drawback for developing therapies. One strategy to characterize this heterogeneity in ASD is to cluster large-scale functional brain connectivity profiles. METHODS: A subtyping approach based on consensus clustering of functional brain connectivity patterns was applied to a population of N=657 autistic patients with quality-assured neuroimaging data. We then used high-resolution gene transcriptomic data to characterize the molecular mechanism behind each subtype by performing enrichment analysis of the set of genes showing a high spatial similarity with the profiles of functional connectivity alterations between each subtype and the group of typically developing controls (TDC). RESULTS: Two major stable subtypes were found: Subtype 1 exhibited hypo-connectivity (less average connectivity than TDC) and subtype 2, hyper-connectivity. The two subtypes did not differ in structural imaging metrics in any of the analyzed regions (64 cortical and 14 subcortical), nor in any of the behavioral scores (including Intelligence Quotient, ADI and ADOS). Finally, only subtype 2, comprising about 42% of all patients, led to significant enrichments after multiple testing corrections. Notably, the dominant enrichment corresponded to excitation-inhibition (E/I) imbalance, a leading well-known primary mechanism in the pathophysiology of ASD. CONCLUSIONS: Our results support a link between E/I imbalance and functional connectivity alterations, but only in one ASD subtype, overall characterized by brain hyper-connectivity and major alterations in somatomotor and default mode networks.

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19. Selick A, Durbin J, Hamdani Y, Rayner J, Lunsky Y. « Can you hear me now? »: a qualitative exploration of communication quality in virtual primary care encounters for patients with intellectual and developmental disabilities. BMC primary care. 2023; 24(1): 105.

BACKGROUND: High quality communication is central to effective primary care. The COVID-19 pandemic led to a dramatic increase in virtual care but little is known about how this may affect communication quality. Adults with intellectual and developmental disabilities (IDD) can experience challenges communicating or communicate in non-traditional ways. This study explored how the use of virtual modalities, including telephone and video, affects communication in primary care interactions for patients with IDD. METHODS: This qualitative descriptive study included semi-structured interviews with a multi-stakeholder sample of 38 participants, including 11 adults with IDD, 13 family caregivers, 5 IDD support staff and 9 primary care physicians. Interviews were conducted in Ontario, Canada between March and November 2021 by video-conference or telephone. A mixed inductive and deductive thematic analysis approach was used to code the data and identify themes. Themes were reviewed and refined with members of each stakeholder group. RESULTS: Four elements of communication were identified that were affected by virtual care: (1) patient engagement in the virtual appointment; (2) the ability to hear other participants and have the time and space to be heard; (3) the ability to use nonverbal communication strategies; and (4) the ability to form trusting relationships. In some cases, the virtual platform hindered these elements of communication. Video offered some advantages over telephone to support nonverbal communication, and stimulate engagement; though this could be limited by technical challenges. For adults with IDD who find it difficult to attend in-person appointments, virtual care improved communication quality by allowing them to participate from a space where they were comfortable. CONCLUSION: Though there are circumstances in which virtual delivery can improve communication for patients with IDD, there are also challenges to achieving high quality patient-provider communication over telephone and video. Improved infrastructure and training for providers, patients and caregivers can help improve communication quality, though in some cases it may never be appropriate. A flexible patient-centred approach is needed that includes in-person, telephone and video options for care.

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20. Smith J, Halliwell N, Laurent A, Tsotsoros J, Harris K, DeGrace B. Social Participation Experiences of Families Raising a Young Child With Autism Spectrum Disorder: Implications for Mental Health and Well-Being. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Social participation (SP) is an important facilitator of positive mental health for children and families. Children are dependent on their families to mediate SP, yet families of children with autism spectrum disorder (C-ASD) seemingly limit SP because of behavioral and functional challenges in community environments. The resulting isolation can affect the child’s and the family’s mental health. OBJECTIVE: To distill the essence of everyday SP experiences in the community of families raising C-ASD. DESIGN: Data collected via in-depth, semistructured interviews with a purposive sample and analyzed in the phenomenological tradition. SETTING: Community. PARTICIPANTS: We recruited seven families with English-speaking parents (ages 18-64 yr) raising one C-ASD (age 2-8 yr). Families with more than one C-ASD or those whose C-ASD was diagnosed with complex medical condition or a neurological or genetic disorder were excluded. RESULTS: The essence of experiences of SP emerged in the form of three themes depicting the mismatch between societal expectations for SP and families’ experience: (1) « the struggle, » (2) « it’s hard to feel like you belong, » and (3) what we « have to do. » CONCLUSIONS AND RELEVANCE: As a collective, families expressed desire for everyday community SP and could do so only in select environments with core groups. The findings, as interpreted through the lens of mental health promotion, reveal opportunities to reduce barriers and to promote meaningful family SP so as to facilitate positive mental health and well-being through the transactional intersecting characteristics of the child with ASD, the family, and the community. What This Article Adds: This study illuminates the experience of SP of families raising a young C-ASD, highlighting both supports and barriers. Practitioners can use this information to potentially prevent isolation and promote both child and family mental health and well-being.

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21. Sourander A, Silwal S, Surcel HM, Hinkka-Yli-Salomäki S, Upadhyaya S, McKeague IW, Cheslack-Postava K, Brown AS. Maternal Serum Vitamin B12 during Pregnancy and Offspring Autism Spectrum Disorder. Nutrients. 2023; 15(8).

This study examined the association between maternal serum vitamin B12 levels during early pregnancy and offspring autism spectrum disorders (ASD) and subtypes. Based on a Finnish national birth cohort, case offspring (n = 1558) born in 1987-2007 and diagnosed with ASD by 2015 were matched with one control on date of birth, sex and place of birth. Maternal vitamin B12 levels were measured during first and early second trimesters of pregnancy. High maternal vitamin B12 levels (≥81th percentile) was associated with increased risk for offspring childhood autism, adjusted odds ratio, 1.59, 95% confidence interval 1.06-2.41 (p = 0.026). No significant associations were observed between maternal vitamin B12 levels and offspring Asperger’s or pervasive developmental disorder/NOS.

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22. Wang Z, He M, Lv Y, Ge E, Zhang S, Qiang N, Liu T, Zhang F, Li X, Ge B. Accurate corresponding fiber tract segmentation via FiberGeoMap learner with application to autism. Cerebral cortex (New York, NY : 1991). 2023.

Fiber tract segmentation is a prerequisite for tract-based statistical analysis. Brain fiber streamlines obtained by diffusion magnetic resonance imaging and tractography technology are usually difficult to be leveraged directly, thus need to be segmented into fiber tracts. Previous research mainly consists of two steps: defining and computing the similarity features of fiber streamlines, then adopting machine learning algorithms for fiber clustering or classification. Defining the similarity feature is the basic premise and determines its potential reliability and application. In this study, we adopt geometric features for fiber tract segmentation and develop a novel descriptor (FiberGeoMap) for the corresponding representation, which can effectively depict fiber streamlines’ shapes and positions. FiberGeoMap can differentiate fiber tracts within the same subject, meanwhile preserving the shape and position consistency across subjects, thus can identify common fiber tracts across brains. We also proposed a Transformer-based encoder network called FiberGeoMap Learner, to perform segmentation based on the geometric features. Experimental results showed that the proposed method can differentiate the 103 various fiber tracts, which outperformed the existing methods in both the number of categories and segmentation accuracy. Furthermore, the proposed method identified some fiber tracts that were statistically different on fractional anisotropy (FA), mean diffusion (MD), and fiber number ration in autism.

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23. Wen Y, Wang J, Zhang Q, Yang X, Wei L, Bao X. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. BMC medicine. 2023; 21(1): 155.

BACKGROUND: Germline mosaicisms could be inherited to offspring, which considered as « de novo » in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study, we focused on MECP2 germline mosaicism in males, not only RTT fathers. METHODS: Thirty-two fathers of RTT girls with MECP2 pathogenic mutations and twenty-five healthy adult males without history and family history of RTT or other genetic disorders were recruited. Sperm samples were collected and ten MECP2 hotspot mutations were detected by micro-droplet digital PCR (mDDPCR). And routine semen test was performed at the same time if the sample was sufficient. Additionally, blood samples were also detected for those with sperm MECP2 mosaicisms. RESULTS: Nine fathers with RTT daughters (28.1%, 9/32) were found to have MECP2 mosaicism in their sperm samples, with the mutant allele fractions (MAFs) ranging from 0.05% to 7.55%. Only one father with MECP2 c.806delG germline mosaicism (MAF 7.55%) was found to have mosaicism in the blood sample, with the MAF was 0.28%. In the group of healthy adult males, MECP2 mosaicism was found in 7 sperm samples (28.0%, 7/25), with the MAFs ranging from 0.05% to 0.18%. None of the healthy adult males with MECP2 germline mosaicisms were found with MECP2 mosaicism in blood samples. There were no statistical differences in age, or the incidence of asthenospermia between fathers with RTT daughters and healthy adult males with MECP2 germline mosaicisms. Additionally, there was no linear correlation between MAFs of MECP2 mosaicisms and the age of males with germline MECP2 mosaicisms. CONCLUSIONS: Germline MECP2 mosaicism could be found not only in fathers with RTT daughters but also in healthy adult males without family history of RTT. As germline mosaic mutations may be passed on to offspring which commonly known as « de novo », more attention should be paid to germline mosaicism, especially in families with a proband diagnosed with genetic disorders.

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24. Xue Y, An S, Qiu W, Zhang W, Fu L, Zhen Z. Exercise Changes Gut Microbiota: A New Idea to Explain that Exercise Improves Autism. International journal of sports medicine. 2023.

The effect of exercise interventions on autism spectrum disorder (ASD) has been demonstrated in many studies, and the discovery of a bidirectional relationship between the gut microbiome (GM) and the central nervous system (CNS) has led to the concept of the microbial gut-brain axis (MGBA) and has linked the abnormal GM to a variety of neuropsychiatric disorders, autism being one of them. Research on improving the GM through exercise is also starting to come into focus. However, there are currently few studies on exercise intervention in the GM of autism. The purpose of this review was to find evidence to explore the possible potential effects of exercise to improve the behavior of individuals with autism in the MGBA in this treatment, as well as the potential of GM as an exercise treatment for autism. We will explore (1) changes in GM components of ASD and their relationship to the pathophysiology of ASD; (2) the relationship between exercise and changes in GM components, and (3) the effect of exercise on GM in CNS disorders. Ultimately, we concluded that Streptococcus, Bifidobacterium, Clostridium, Bacteroides, and Blautia may be potential effectors through the MGBA network during exercise to ameliorate ASD targeting microbiotas. They deserve high attention in the follow-up studies.

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25. Yin B, Li H, Zhao P, Zhao Y, Zheng R, Feng P, Xu C, Li E, Li L. GM1 Reduced the Symptoms of Autism Spectrum Disorder by Suppressing α-Syn Through Activating Autophagy. Journal of molecular neuroscience : MN. 2023.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that cannot be cured. The ASD rat model was developed in this study to demonstrate the role and mechanism of ganglioside GM1 (GM1). Rats were given valproic acid (VPA) to create the ASD rat model. The rats’ behaviors were assessed using the Y-maze test, open-field test, three-chamber social interaction test, and Morris water maze test. Relative levels of glutathione (GSH), malondialdehyde (MDA), catalase (CAT), reactive oxygen species (ROS), and superoxide dismutase (SOD) were quantitated using relative kits. Nissl, TUNEL, immunofluorescent, and immunohistochemistry staining techniques were used. GM1 treatment improved the ASD model rats’ behavior disorders, including locomotor activity and exploratory behavior, social interaction, learning and memory capacity, and repetitive behavior. Following GM1 injection, striatal neurons grew and apoptosis decreased. GM1 reduced the excessively elevated α-Syn in ASD by encouraging autophagy. The behavior disorder of ASD model rats was exacerbated by autophagy inhibition, which also increased α-Syn levels. By increasing autophagy, GM1 reduced α-Syn levels and, ultimately, improved behavioral abnormalities in ASD model rats.

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