1. Dong HW, Weiss K, Baugh K, Meadows MJ, Niswender CM, Neul JL. Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics;2024 (Jun 15):e00384.

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the X chromosome-linked gene Methyl-CpG Binding Protein 2 (MECP2). Restoring MeCP2 expression after disease onset in a mouse model of RTT reverses phenotypes, providing hope for development of treatments for RTT. Translatable biomarkers of improvement and treatment responses have the potential to accelerate both preclinical and clinical evaluation of targeted therapies in RTT. Studies in people with and mouse models of RTT have identified neurophysiological features, such as auditory event-related potentials, that correlate with disease severity, suggesting that they could be useful as biomarkers of disease improvement or early treatment response. We recently demonstrated that treatment of RTT mice with a positive allosteric modulator (PAM) of muscarinic acetylcholine subtype 1 receptor (M(1)) improved phenotypes, suggesting that modulation of M(1) activity is a potential therapy in RTT. To evaluate whether neurophysiological features could be useful biomarkers to assess the effects of M(1) PAM treatment, we acutely administered the M(1) PAM VU0486846 (VU846) at doses of 1, 3, 10 and 30 mg/kg in wildtype and RTT mice. This resulted in an inverted U-shaped dose response with maximal improvement of AEP features at 3 mg/kg but with no marked effect on basal EEG power or epileptiform discharges in RTT mice and no significant changes in wildtype mice. These findings suggest that M(1) potentiation can improve neural circuit synchrony to auditory stimuli in RTT mice and that neurophysiological features have potential as pharmacodynamic or treatment-responsive biomarkers for preclinical and clinical evaluation of putative therapies in RTT.

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2. Evenepoel M, Daniels N, Moerkerke M, Van de Vliet M, Prinsen J, Tuerlinckx E, Steyaert J, Boets B, Alaerts K, Joossens M. Oral microbiota in autistic children: Diagnosis-related differences and associations with clinical characteristics. Brain Behav Immun Health;2024 (Jul);38:100801.

Similar to the gut microbiome, oral microbiome compositions have been suggested to play an important role in the etiology of autism. However, empirical research on how variations in the oral microbiome relate to clinical-behavioral difficulties associated with autism remains sparse. Furthermore, it is largely unknown how potentially confounding lifestyle variables, such as oral health and nutrition, may impact these associations. To fill this gap, the current study examined diagnosis-related differences in oral microbiome composition between 80 school-aged autistic children (8-12 years; 64 boys, 16 girls) versus 40 age-matched typically developing peers (32 boys, 8 girls). In addition, associations with individual differences in social functioning (SRS-2), repetitive behavior (RBS-R) and anxiety (SCARED) were explored, as well as the impact of several lifestyle variables regarding nutrition and oral health. Results provide important indications that the bacterial genera Solobacterium, Stomatobaculum, Ruminococcaceae UCG.014, Tannerella and Campylobacter were significantly more abundant in autistic compared to non-autistic children. Furthermore, the former four bacteria that were significantly more abundant in the autistic children showed significant associations with parent-reported social difficulties, repetitive and restrictive behavior and with parent-reported anxiety-like behavior. Importantly, associations among oral microbiome and quantitative diagnostic characteristics were not significantly driven by differences in lifestyle variables. This exploratory study reveals significant differences in oral microbiome composition between autistic and non-autistic children, even while controlling for potential confounding lifestyle variables. Furthermore, the significant associations with clinical characteristics suggest that individual differences in microbiome composition might be involved in shaping the clinical phenotype of autism. However, these associations warrant further exploration of the oral microbiome’s potential beyond the oral cavity and specifically with respect to neuropsychiatric conditions.

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3. Fernandez FAJ, Quilendrino MIO, Borlongan MAB. Survey on the Patterns of Feeding Difficulties and Behaviors in Filipino Children with Autism Spectrum Disorder Seen in a Philippine Tertiary Hospital and the Impact of the COVID-19 Pandemic. Acta Med Philipp;2024;58(7):170-181.

OBJECTIVE: To describe patterns of feeding difficulties and behaviors of Filipino children diagnosed with Autism Spectrum Disorder (ASD). METHODS: An electronic mealtime survey was administered to caregivers of 3- to 9-year-old children diagnosed with ASD in a Philippine tertiary government hospital. Descriptive statistics and correlation analyses between feeding difficulties measured as Mealtime Survey Score, sociodemographic data, and early feeding history were performed. The impact of the COVID-19 pandemic to these was analyzed through a binomial test. RESULTS: All of the 115 study subjects reported at least one problematic feeding behavior, with picky eating being the most frequent (61.74%). Significantly, more feeding difficulties were observed among the children with reported early feeding difficulties during their 2(nd) and 3(rd) year of life. There were no documented statistically significant changes in feeding behaviors during the past six months of the COVID-19 pandemic. CONCLUSION: There is a high prevalence of feeding difficulties and problematic feeding behavior among Filipino children with ASD, however no significant changes to these during the past six months of the COVID-19 pandemic were documented. Present feeding difficulties and behaviors were associated with history of early feeding difficulties, highlighting the need to include feeding difficulties in screening tools, and early training programs and interventions for children with ASD.

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4. Güçlü O, Enüstün Hürmeydan C. Being the Mother of a Special Child: Resilience and Marital Adjustment in Mothers of Children with Autism Spectrum Disorder. Psychiatry Clin Psychopharmacol;2024 (Mar);34(1):64-73.

BACKGROUND: This study aims to examine the levels and the relationship between resilience and marital adjustment in mothers of a child diagnosed with autism spectrum disorder. METHODS: Seventy mothers with a child diagnosed with autism spectrum disorder who have been followed up in the Child and Adolescent Psychiatry Outpatient Clinic of Bakırköy Training and Research Hospital for Psychiatry Neurology and Neurosurgery and 74 mothers with a typically developing child to form the control group were included in the study. The Childhood Autism Rating Scale was applied to assess the severity of autism symptoms in children. Sociodemographic form, Beck Depression Scale and Beck Anxiety Scale were applied. The Psychological Resilience Scale for Adults was used to assess resilience. The Marital Adjustment Scale was applied to evaluate the participants’ marital adjustment. RESULTS: The level of resilience (P < .001) and marital adjustment (P = .002) in mothers of children with autism spectrum disorder were found to be lower when compared to mothers with a typically developing child. There is a negative correlation between the level of resilience and the severity of autism (P = .002) (r = -0.361). A positive correlation was found between marital adjustment and resilience (P < .001) (r = 0.465). High levels of depressive symptoms (P = .003), low marital adjustment (P = .003), and low educational level were found to be predictive of low resilience (P = .044). CONCLUSION: Taking advantage of the fact that resilience is a dynamic process, there is a need to develop strategies to increase resilience in mothers of children with autism spectrum disorder, which will also give rise to individual and marital well-being.

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5. Hollingdale J, Woodhouse E, Tibber MS, Simonoff E, Hollocks MJ, Charman T. The cumulative impact of attention deficit hyperactivity disorder, autism and intellectual disability for young people. J Intellect Disabil Res;2024 (Jun 17)

BACKGROUND: Neurodevelopmental conditions frequently co-occur. The aim of this paper was to determine whether there is a cumulative association between (1) the number of neurodevelopmental conditions, specifically hyperkinetic disorder (hereafter referred to as attention deficit hyperactivity disorder), autism spectrum disorder (hereafter referred to as autism) and intellectual disability, and (2) behavioural and socio-emotional problems and the level of clinician-rated functioning for young males and females. METHODS: In this cross-sectional study, diagnostic information, caregiver-rated behavioural and socio-emotional data (as conceptualised by the Strengths and Difficulties Questionnaire) and clinician-rated functioning scores (as conceptualised by the Children’s Global Assessment Scale) were extracted from electronic patient records for 2768 young people aged 3-17 years (mean = 11.55, SD = 3.46). All data were extracted at baseline, that is, at the time the young person was diagnosed with attention deficit hyperactivity disorder, autism and/or an intellectual disability. Ordinal regression analyses tested associations between the number of neurodevelopmental conditions met (i.e. 1, 2 or 3) and behavioural and socio-emotional outcomes and functioning. RESULTS: After controlling for age and biological sex, the number of neurodevelopmental conditions was associated with higher levels of inattention/hyperactivity and peer problems, lower levels of prosocial behaviour and poorer clinician-rated functioning. Although these findings were consistent for males, a cumulative association was not identified for females, except for clinician-rated functioning. CONCLUSIONS: For young people, the presence of multiple neurodevelopmental conditions may have a cumulative impact across domains, but this may differ between males and females.

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6. Kamal M, Ahmed A, Nashwan AJ. Autism Spectrum Disorder in a Single Family: A Case Series of Three Siblings. Cureus;2024 (May);16(5):e60362.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a rising prevalence worldwide. While genetic factors are significantly associated with the disorder, environmental factors are often speculated to contribute to its onset. The Middle East, exhibiting higher rates of ASD, also sees frequent consanguineous marriages, necessitating focused studies on potential etiological factors in the region. We report a unique case of a family with three children diagnosed with ASD. The parents, aged between 35 and 39 years at the birth of their first child, have no notable familial history of neurodevelopmental disorders. Interestingly, while both parents and two of the children had normal chromosomal patterns, one child displayed chromosomal abnormalities. This discrepancy raises questions about the interplay between genetics and external factors in the manifestation of ASD. The family’s medical history, combined with the regional context of high ASD prevalence and consanguineous marriages, provides a compelling backdrop for the study. The presence of chromosomal abnormalities in only one child, despite no detectable genetic irregularities in parents or siblings, underscores the potential influence of environmental factors in the development of ASD. This case accentuates the importance of conducting in-depth genetic and environmental studies to unravel the intricate etiological web surrounding ASD in the Middle East.

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7. Lagang-Buenaventura MKC, Ang-Nolasco VDC. Needs and Coping during the COVID-19 Pandemic among Families of Children with Autism Spectrum Disorder in a Government Tertiary Hospital. Acta Med Philipp;2024;58(7):152-162.

BACKGROUND: The COVID-19 pandemic has affected the well-being of children with Autism Spectrum Disorder (ASD) and their families. The core deficits of the condition and increased parental stress during this time made them more vulnerable. OBJECTIVES: This study aims to explore how the pandemic has affected these families by identifying their needs and capabilities in order to provide support. METHODS: A total of 227 parents of children with ASD completed an online survey consisting of items on socio-demographics, family needs, and coping strategies. Descriptive statistics were used and t-test and ANOVA/Kruskal Wallis were used to determine the relationship between parent and child factors with needs and coping. RESULTS: Needs for Information, Community Services, and Finances are the top categories while the greatest identified need during this pandemic was for financial assistance. Religiosity, Problem-Solving, and Cognitive Reappraisal were the widely used coping strategies by the parents. Fathers, younger children, daughters with ASD, and having more than one child with ASD showed significant association with needs. Parents with primary and tertiary education were associated with use of the cognitive reappraisal strategy and those with jobs were associated with substance use. CONCLUSION: Families of children with ASD have multiple needs during this pandemic, from autism-specific information and services, to more generic concerns such as financial assistance. Despite these challenges, these families have positive strategies in place to facilitate coping mechanisms.

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8. Pecukonis M, Gerson J, Gustafson-Alm H, Wood M, Yücel M, Boas D, Tager-Flusberg H. The Neural Bases of Language Processing During Social and Non-Social Contexts: A fNIRS Study of Autistic and Neurotypical Preschool-Aged Children. Res Sq;2024 (Jun 6)

BACKGROUND: Little is known about how the brains of autistic children process language during real-world « social contexts, » despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD). METHODS: We investigated the neural bases of language processing during social and non-social contexts in a sample of N=20 autistic and N=20 neurotypical (NT) preschool-aged children, 3 to 6 years old. Functional near-infrared spectroscopy (fNIRS) was used to measure children’s brain response to « live language » spoken by a live experimenter during an in-person social context (i.e., book reading), and « recorded language » played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children’s brain response and language skills measured by the Preschool Language Scales. RESULTS: In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions. The ASD group showed greater brain response to recorded language than the NT group in the right inferior and middle frontal gyrus (IMFG). Across groups, children’s language skills were negatively associated with brain response to recorded language in the right IMFG, suggesting that processing recorded language required more cognitive effort for children with lower language skills. Children’s language skills were also positively associated with the difference in brain response between conditions in the right TPJ, demonstrating that children who showed a greater difference in brain response to live language versus recorded language had higher language skills. LIMITATIONS: Findings should be considered preliminary until they are replicated in a larger sample. CONCLUSIONS: Findings suggest that the brains of NT children, but not autistic children, process language differently during social and non-social contexts. Individual differences in how the brain processes language during social and non-social contexts may help to explain why language skills are so variable across children with and without autism.

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9. Schaffer LS, Breunig S, Lawrence JM, Foote IF, Grotzinger AD. Characterizing Genetic Pathways Unique to Autism Spectrum Disorder at Multiple Levels of Biological Analysis. medRxiv;2024 (Jun 9)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical patterns of social functioning and repetitive/restricted behaviors. ASD commonly co-occurs with ADHD and, despite their clinical distinctiveness, the two share considerable genetic overlap. Given their shared genetic liability, it is unclear which genetic pathways confer unique risk for ASD independent of ADHD. We applied Genomic Structural Equation Modeling (SEM) to GWAS summary statistics for ASD and ADHD, decomposing the genetic signal for ASD into that which is unique to ASD (uASD) and that which is shared with ADHD. We computed genetic correlations between uASD and 75 external traits to estimate genetic overlap between uASD and other clinically relevant phenotypes. We went on to apply Stratified Genomic SEM to identify classes of genes enriched for uASD. Finally, we implemented Transcriptome-Wide SEM (T-SEM) to explore patterns of gene-expression associated with uASD. We observed positive genetic correlations between uASD and several external traits, most notably those relating to cognitive/educational outcomes and internalizing psychiatric traits. Stratified Genomic SEM showed that heritability for uASD was significantly enriched in genes involved in evolutionarily conserved processes, as well as for a histone mark in the germinal matrix. T-SEM revealed 83 unique genes with expression associated with uASD, many of which were novel. These findings delineate the unique biological underpinnings of ASD which exist independent of ADHD and demonstrate the utility of Genomic SEM and its extensions for disambiguating shared and unique risk pathways for genetically overlapping traits.

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10. Sherwood KL, Smith MJ, Eldredge MA. The Need for Technology-Aided Instruction and Intervention Policy for Autistic Youth. J Disabil Policy Stud;2024 (Jun);35(1):54-64.

This paper examines current technology-aided instruction and intervention (TAII) available for autistic transition-age youth (TAY) and existing policies that may support or hinder the delivery of these interventions. Specifically, we focus on policies that might influence the delivery of TAII to autistic TAY. After a careful review of the literature, we observed that postsecondary policy guiding the delivery of TAII designed to support autistic TAY is lacking. TAII have demonstrated effectiveness, usability, sustainability, and cost-effectiveness, particularly with this population. We suggest possibilities for future policies to support the development, implementation, and evaluation of TAII for autistic TAY.

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11. Sundaram M, Kumarasamy B, Subbian KP, Perumal MK, Balu K, Manikandan S. Comparative Assessment of Total Antioxidant Capacity of Unstimulated Saliva Which Can Reflect the Oxidative Stress between Autism Children and Normal Children. J Pharm Bioallied Sci;2024 (Apr);16(Suppl 2):S1811-s1814.

AIM: To assess the level of total antioxidant capacity (TAC) in the unstimulated saliva of autism children and normal children. METHODS: A total of 60 children participated in the study (autism children-30; normal children-30) in the age-group of 7-14 years, at a Special Needs Children’s Home in Salem district. Both groups were further subdivided into subgroups of 15 children each (caries-free and caries-active). All children were given instructions regarding saliva sample collection, and unstimulated saliva samples were collected in sterile cryovials and transported to the laboratory at 4°C, where the TAC of saliva was evaluated using the spectrophotometric assay. RESULTS: TAC of autism children was comparable to that of normal children due to personal care and improved diet. TAC was increased in caries-active children when compared to caries-free children in both groups. When comparing the mean values of TAC in caries-active and caries-free children of both groups, it was not statistically significant. So, from the above results, it can be assumed that the diet, age, and caries activity have a definitive influence on the TAC level of saliva. CONCLUSION: Personal hygiene, diet, age, and caries activity have a definitive influence on the level of TAC in saliva.

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12. Udodi PS, Anyanwu GE, Udodi ER, Ezejindu DN. Targeting cholinergic and endocannabinoid system as a therapeutic intervention for core asd associated phenotypes in autism model: a systematic review. Trends Psychiatry Psychother;2024 (Jun 17)

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been linked to the dysregulation in the cholinergic and endocannabinoid (EC) system. This study systematically reviews the present literature on treatment strategies aimed at enhancing the activity of both systems in ASD models. METHOD: We performed a systematic evaluation of literatures that investigated the effects of different therapeutic interventions on the components of the cholinergic and EC systems in ASD models, following the guidelines provided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Four databases were searched: Google Scholar, Web of science, EMBASE and MEDLINE/PubMed, between August 2012 and February 2023. The selected research papers’ references were also examined. Twelve papers (five for cholinergic system, six for EC system and one for the two systems) were reviewed in this study of prior relevant treatment strategies that impact both systems. There were 77 studies cited in total. RESULTS: The majority of research revealed that different therapeutic interventions down-regulated cannabinoid 1 (CB1) receptors, and the systems hydrolyzing enzymes and up-regulated EC, Alpha7 nicotinic acetylcholine receptor (α7 nAChR), and acetylcholine signaling molecules. The regulation of the components of the cholinergic and EC systems by the therapeutics generally enhanced behaviors in ASD models. CONCLUSION: It is possible that there are therapeutic interventions assessed in one of the systems that may be effective in treating the core ASD-associated phenotype. The benefits of the reviewed therapeutic interventions in this study need to be further investigated in randomized, blind, placebo-controlled clinical trials.

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13. Zhou X, Wong PCM. Hyperscanning to explore social interaction among autistic minds. Neurosci Biobehav Rev;2024 (Jun 17);163:105773.

Hyperscanning – the monitoring of brain activity of two or more people simultaneously – has emerged to be a popular tool for assessing neural features of social interaction. This perspective article focuses on hyperscanning studies that use functional near-infrared spectroscopy (fNIRS), a technique that is very conducive to studies requiring naturalistic paradigms. In particular, we are interested in neural features that are related to social interaction deficits among individuals with autism spectrum disorders (ASD). This population has received relatively little attention in research using neuroimaging hyperscanning techniques, compared to neurotypical individuals. The study is outlined as follows. First, we summarize the findings about brain-behavior connections related to autism from previously published fNIRS hyperscanning studies. Then, we propose a preliminary theoretical framework of inter-brain coherence (IBC) with testable hypotheses concerning this population. Finally, we provide two examples of areas of inquiry in which studies could be particularly relevant for social-emotional/behavioral development for autistic children, focusing on intergenerational relationships in family units and learning in classroom settings in mainstream schools.

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