1. Afsharnejad B, Black MH, Falkmer M, Bölte S, Girdler S. The Methodological Quality and Intervention Fidelity of Randomised Controlled Trials Evaluating Social Skills Group Programs in Autistic Adolescents: A Systematic Review and Meta-analysis. Journal of autism and developmental disorders. 2023.

A systematic review and meta-analysis were utilised to explore the methodological quality, program fidelity, and efficacy of social skills group programs (SSGPs) aiming to support autistic adolescents in navigating their everyday social worlds. The study evaluated the methodological quality and theoretical fidelity of studies, with a random effect meta-analysis conducted to summarise the overall efficacy of SSGP and its effect on social communication and interaction, behavioural/emotional challenges, adaptive functioning, and autism characteristics. Although findings from the 18 identified studies indicated an adjusted medium overall effect with these programs successfully supporting autistic adolescents’ socialisation needs (g = 0. 60, p < 0.001), most studies demonstrated medium to low program fidelity despite their good methodological quality. Given the significant heterogeneity of SSGPs and variations in the design and measurement frameworks of efficacy studies, understanding the generalisability of the findings of this research is unclear.

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2. Akhter M, Khan SM, Firdous SN, Tikmani P, Khan A, Rafique H. A narrative review on manifestations of gluten free casein free diet in autism and autism spectrum disorders. JPMA The Journal of the Pakistan Medical Association. 2022; 72(10): 2054-60.

Autism and Autism Spectrum Disorder (ASD) are specific neurological disorders that affect the brain, frequently characterised by challenging paediatric behaviour. The current narrative review using PubMed and Google Scholar was conducted in line with the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols, and comprised randomised controlled trials and clinical control trials with gluten-free, casein-free (GFCF) diets published till 2020. Of the 80 studies selected, 7(8.75%) were included in the review. It was observed that the gluten-free, casein-free diet was safe with therapeutic benefits in autistic children. Therefore, a tailored dietary approach can be a beneficial management regimen. The trials related to utility of gluten-free, casein-free diet among autistic children are sparse, with limited sampling size, and indication of bias in the findings. Therefore, larger cohort studies on gluten-free, casein-free trials are required to provide further insight into the therapeutic benefits of the diet.

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3. Arutiunian V, Gomozova M, Minnigulova A, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O. Structural brain abnormalities and their association with language impairment in school-aged children with Autism Spectrum Disorder. Scientific reports. 2023; 13(1): 1172.

Language impairment is comorbid in most children with Autism Spectrum Disorder (ASD) but its neural basis is poorly understood. Using structural magnetic resonance imaging (MRI), the present study provides the whole-brain comparison of both volume- and surface-based characteristics between groups of children with and without ASD and investigates the relationships between these characteristics in language-related areas and the language abilities of children with ASD measured with standardized tools. A total of 36 school-aged children participated in the study: 18 children with ASD and 18 age- and sex-matched typically developing controls. The results revealed that multiple regions differed between groups of children in gray matter volume, gray matter thickness, gyrification, and cortical complexity (fractal dimension). White matter volume and sulcus depth did not differ between groups of children in any region. Importantly, gray matter thickness and gyrification of language-related areas were related to language functioning in children with ASD. Thus, the results of the present study shed some light on the structural brain abnormalities associated with language impairment in ASD.

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4. Bilgiç A, Ferahkaya H, Karagöz H, Kılınç İ, Energin VM. Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder. Nordic journal of psychiatry. 2023: 1-6.

AIM: Increased intestinal and blood-brain barriers (BBB) permeability has been suggested to have a role in autism spectrum disorder (ASD). Claudin-5, claudin-11, occludin, β-catenin, vinculin, and paxillin are crucial components of these barriers. This study assessed concentrations of these molecules in preschool children with ASD. METHODS: A total of 80 children with ASD and 40 controls aged 18-60 months were enrolled in this study. Serum levels of biochemical variables were determined using commercial enzyme-linked immunosorbent assay kits. RESULTS: Serum claudin-11, occludin, and β-catenin levels were significantly higher in the ASD group than in the control group. However, no significant difference for serum claudin-5, vinculin, and paxillin levels was detected between the groups. CONCLUSION: These findings suggest that claudin-11, occludin, and β-catenin may be involved in the pathogenesis of ASD. These proteins may affect the brain by causing dysregulation in intestinal or blood-brain barrier permeability or with other unknown mechanisms.

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5. Cong J, Zhuang W, Liu Y, Yin S, Jia H, Yi C, Chen K, Xue K, Li F, Yao D, Xu P, Zhang T. Altered default mode network causal connectivity patterns in autism spectrum disorder revealed by Liang information flow analysis. Human brain mapping. 2023.

Autism spectrum disorder (ASD) is a pervasive developmental disorder with severe cognitive impairment in social communication and interaction. Previous studies have reported that abnormal functional connectivity patterns within the default mode network (DMN) were associated with social dysfunction in ASD. However, how the altered causal connectivity pattern within the DMN affects the social functioning in ASD remains largely unclear. Here, we introduced the Liang information flow method, widely applied to climate science and quantum mechanics, to uncover the brain causal network patterns in ASD. Compared with the healthy controls (HC), we observed that the interactions among the dorsal medial prefrontal cortex (dMPFC), ventral medial prefrontal cortex (vMPFC), hippocampal formation, and temporo-parietal junction showed more inter-regional causal connectivity differences in ASD. For the topological property analysis, we also found the clustering coefficient of DMN and the In-Out degree of anterior medial prefrontal cortex were significantly decreased in ASD. Furthermore, we found that the causal connectivity from dMPFC to vMPFC was correlated with the clinical symptoms of ASD. These altered causal connectivity patterns indicated that the DMN inter-regions information processing was perturbed in ASD. In particular, we found that the dMPFC acts as a causal source in the DMN in HC, whereas it plays a causal target in ASD. Overall, our findings indicated that the Liang information flow method could serve as an important way to explore the DMN causal connectivity patterns, and it also can provide novel insights into the nueromechanisms underlying DMN dysfunction in ASD.

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6. Di Sarro R, Varrucciu N, Di Santantonio A, Natali F, Kaleci S, Bianco A, Cappai M, Lucchi F, Bertelli MO. Appropriateness of psychopharmacological therapies to psychiatric diagnoses in persons with autism spectrum disorder with or without intellectual disabilities: a cross-sectional analytic study. Expert opinion on drug safety. 2023.

BACKGROUND: Available observational studies have highlighted high rates of psychotropic medication in persons with Autistic Spectrum Disorder (ASD) with or without Intellectual Disability, which seems to be associated with the management of problem behaviors more than co-occurrent diagnoses of psychiatric disorders. The purpose of the study is to investigate psychopharmacology use and diagnoses of co-occurrent psychiatric disorder (PD) in a sample of persons with ASD attending a public mental health service in Emilia Romagna, Italy. METHODS: The present study is a multicenter, prospective cohort study. RESULTS: 275 persons out of 486 (56.5%) resulted to receive at least one psychotropic drug, compared to 74 persons (15.2%) that were diagnosed with a PD. 63.6% were on poly-pharmacotherapy (2-10 compounds), with 37.8% receiving 3 or more medications. Antipsychotics were the most frequently prescribed class of psychotropic drugs (89%), followed by antiepileptics/mood stabilizers/lithium (42.1%) and anxiolytics (BDZ) (38.5%). Most common psychiatric disorders were psychotic disorders (29.7%), followed by anxiety disorders (17.5%), bipolar disorders (12.2%), and depressive disorders (9.4%). CONCLUSIONS: Our findings support earlier research showing that many individuals with ASD receive pharmacotherapy without being diagnosed with a co-occurring psychiatric disorder, indicating that the main reasons for prescription and the type of compound frequently have little to no link with specific psychopathology.

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7. Giambona PJ, Ding Y, Cho SJ, Zhang C, Shen Y. Parent Perceptions of the Effects of Early Intensive Behavioral Interventions for Children with Autism. Behavioral sciences (Basel, Switzerland). 2023; 13(1).

The current study aimed to understand parents’ perceptions of the effects of early intensive behavioral intervention (EIBI) based on the principles of applied behavioral analysis (ABA) and the lasting outcomes for their children with Autism spectrum disorder (ASD). In particular, this study sought to examine parent perceptions of the relationship between the intensity of ABA interventions and current autism symptom severity, adaptive functioning, and school placement. The current study employed a convergent parallel mixed-methods design, which consisted of collecting, analyzing, interpreting, and combining both quantitative and qualitative data. Overall, results suggested that the intensity of previous ABA interventions was a unique predictor of current school placement. Additionally, results suggested that the intensity of previous ABA interventions was a unique predictor of adaptive skills, which was supported by parent interviews. However, the intensity of previous ABA interventions was not a unique predictor of current autism severity. Parent responses to interview questions revealed the imperative nature of the interventions and their effect on service delivery for their children with ASD. Overall, this study provided an increased understanding of parents’ perceptions of the effectiveness of EIBI, which in turn may be central to understanding service utilization.

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8. Hollestein V, Poelmans G, Forde NJ, Beckmann CF, Ecker C, Mann C, Schäfer T, Moessnang C, Baumeister S, Banaschewski T, Bourgeron T, Loth E, Dell’Acqua F, Murphy DGM, Puts NA, Tillmann J, Charman T, Jones EJH, Mason L, Ambrosino S, Holt R, Bölte S, Buitelaar JK, Naaijen J. Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure. Translational psychiatry. 2023; 13(1): 18.

The excitatory/inhibitory (E/I) imbalance hypothesis posits that imbalance between excitatory (glutamatergic) and inhibitory (GABAergic) mechanisms underlies the behavioral characteristics of autism. However, how E/I imbalance arises and how it may differ across autism symptomatology and brain regions is not well understood. We used innovative analysis methods-combining competitive gene-set analysis and gene-expression profiles in relation to cortical thickness (CT) to investigate relationships between genetic variance, brain structure and autism symptomatology of participants from the AIMS-2-TRIALS LEAP cohort (autism = 359, male/female = 258/101; neurotypical control participants = 279, male/female = 178/101) aged 6-30 years. Using competitive gene-set analyses, we investigated whether aggregated genetic variation in glutamate and GABA gene-sets could be associated with behavioral measures of autism symptoms and brain structural variation. Further, using the same gene-sets, we corelated expression profiles throughout the cortex with differences in CT between autistic and neurotypical control participants, as well as in separate sensory subgroups. The glutamate gene-set was associated with all autism symptom severity scores on the Autism Diagnostic Observation Schedule-2 (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R) within the autistic group. In adolescents and adults, brain regions with greater gene-expression of glutamate and GABA genes showed greater differences in CT between autistic and neurotypical control participants although in opposing directions. Additionally, the gene expression profiles were associated with CT profiles in separate sensory subgroups. Our results suggest complex relationships between E/I related genetics and autism symptom profiles as well as brain structure alterations, where there may be differential roles for glutamate and GABA.

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9. Horwitz E, Vos M, De Bildt A, Greaves-Lord K, Rommelse N, Schoevers R, Hartman C. Sex differences in the course of autistic and co-occurring psychopathological symptoms in adolescents with and without autism spectrum disorder. Autism : the international journal of research and practice. 2023: 13623613221146477.

There is an ongoing debate as to whether autism spectrum disorder (ASD) is expressed differently in women than men. Studies on sex differences in autistic symptoms and symptoms of other psychiatric problems present in individuals with autism generally do not include a general population comparison group, making it unclear whether differences are specific to autism or merely reflecting development in the general population. In this study, we compared sex differences in the course of autistic and at the same time present symptoms of other psychiatric problems in adolescents with milder forms of ASD to those in a group of the general population with an equal intelligence quotient (IQ) and socioeconomic status. Data of five assessment moments from ages 11 to 22 years were analyzed using a statistic procedure that allowed us to determine which factors affect the course of symptoms over time. We found that in adolescence, sex differences in the course of psychopathological symptoms specific for autism are confined to the repetitive stereotyped domains. Males had higher scores on the sensory/stereotypic and resistance to change domains, the latter difference disappeared during the course of adolescence due to an increase of these problems in autistic females. Other sex differences, among which an increase over time in mood and anxiety problems in females was the most outstanding, were also observed in females without autism. These sex-specific differences have relevance in the clinical care of autistic men and women, although they are subtle compared to differences between individuals with and without autism.

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10. Ishiura H, Tsuji S, Toda T. Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. Journal of human genetics. 2023.

While whole genome sequencing and long-read sequencing have become widely available, more and more focuses are on noncoding expanded repeats. Indeed, more than half of noncoding repeat expansions related to diseases have been identified in the five years. An exciting aspect of the progress in this field is an identification of a phenomenon called repeat motif-phenotype correlation. Repeat motif-phenotype correlation in noncoding repeat expansion diseases is first found in benign adult familial myoclonus epilepsy. The concept is extended in the research of CGG repeat expansion diseases. In this review, we focus on newly identified CGG repeat expansion diseases, update the concept of repeat motif-phenotype correlation in CGG repeat expansion diseases, and propose a clinical concept of FNOP (fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculopharyngodistal myopathy)-spectrum disorder, which shares clinical features and thus probably share some common disease pathophysiology, to further facilitate discussion and progress in this field.

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11. Nakamura T, Kaneko T, Sasayama D, Yoshizawa T, Kito Y, Fujinaga Y, Washizuka S. Cerebellar network changes in depressed patients with and without autism spectrum disorder: A case-control study. Psychiatry research Neuroimaging. 2023; 329: 111596.

Pathophysiological difference of depression in patients with and without autistic spectrum disorder (ASD) has not been investigated previously. Therefore, we sought to determine whether there were differences between non-ASD and ASD groups on resting-state functional magnetic resonance imaging (rs-fMRI) in patients with depression. We performed 3T MRI under resting state in 8 patients with depression and ASD and 12 patients with depression but without ASD. The ASD group showed increased functional connectivity in the cerebellar network of the left posterior inferior temporal gyrus and anterior cerebellar lobes compared to the non-ASD group in an analysis of covariance. Adding antipsychotics, antidepressants, benzodiazepines, nonbenzodiazepines, anxiolytics, hypnotics, or age as covariates showed a similar increase in functional connectivity. Thus, this study found that depressive patients with ASD had increased functional connectivity in the cerebellar network. Our findings suggest that fMRI may be able to evaluate differences in depressed patients with and without ASD.

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12. Shaw KA, Williams S, Hughes MM, Warren Z, Bakian AV, Durkin MS, Esler A, Hall-Lande J, Salinas A, Vehorn A, Andrews JG, Baroud T, Bilder DA, Dimian A, Galindo M, Hudson A, Hallas L, Lopez M, Pokoski O, Pettygrove S, Rossow K, Shenouda J, Schwenk YD, Zahorodny W, Washington A, Maenner MJ. Statewide county-level autism spectrum disorder prevalence estimates – seven U.S. states, 2018. Annals of epidemiology. 2023.

PURPOSE: Autism spectrum disorder (ASD) prevalence information is necessary for identifying community needs such as addressing disparities in identification and services. METHODS: Seven Autism and Developmental Disabilities Monitoring (ADDM) Network sites participated in a pilot project to link statewide health and education data to generate county-level prevalence estimates for a broader age range for their states for the first time. RESULTS: Statewide prevalence of ASD for ages 3-21 years in 2018 ranged from 1.5% in Tennessee and Wisconsin to 2.3% in Arizona. The median county-level prevalence of ASD was 1.4% of residents ages 3-21 years. More boys than girls had ASD at all sites, and prevalence was lower among non-Hispanic Black (Black), Hispanic, Asian/Pacific Islander (A/PI), and American Indian/Alaska Native (AI/AN) residents compared to non-Hispanic White (White) residents at most sites. ASD prevalence estimates for children aged 8 years were similar to 2018 ADDM Network estimates that used record review to provide more in-depth information, but showed greater variation for children aged 4 years. CONCLUSION: Linkage of statewide data sets provides less detailed but actionable local information when more resource-intensive methods are not possible.

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13. Smith J, Rabba AS, Ali A, Datta P, Dresens E, Faragaab N, Hall G, Heyworth M, Ige K, Lawson W, Lilley R, Syeda N, Pellicano E. ‘Somali parents feel like they’re on the outer’: Somali mothers’ experiences of parent-teacher relationships for their autistic children. Autism : the international journal of research and practice. 2023: 13623613221146077.

Good relationships between parents and schools can improve autistic children’s school success. There are many reasons why families from different cultural backgrounds find it harder to develop good relationships with schools, such as language barriers, discrimination and unfamiliarity with education systems. We know little about what ‘good relationships’ look like for these families. Here, we worked with a team of autistic and non-autistic researchers as well as an Advisory Group of Somali parents to conduct interviews with 15 Somali mothers of kindergarten and school-age autistic children. We asked mothers about their experiences of their child’s education, communication with teachers and what a good relationship with schools would look like. We also asked how they felt the Somali community understood autism. We looked for common things that mothers said. We found that mothers were very proud of their children. They had high expectations, particularly about what children could do by themselves. Mothers found it frustrating that teachers had low expectations, that schools were not good at communicating with them and that autism-specific skills and experience were uncommon in schools. They also reported racist attitudes towards their children. Mothers experienced stigma and lacked resources, but support was gained from their daughters and their religion. Mothers themselves were proactively increasing community awareness and knowledge about autism in the hope that they and their autistic children would be valued and better supported. Our work has implications for how teachers and schools can work together with Somali parents to forge better futures for autistic children.

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14. Wang J, Cao Y, Hou W, Bi D, Yin F, Gao Y, Huang D, Li Y, Cao Z, Yan Y, Zhao J, Kong D, Lv X, Huang L, Zhong H, Wu C, Chen Q, Yang R, Wei Q, Qin H. Fecal microbiota transplantation improves VPA-induced ASD mice by modulating the serotonergic and glutamatergic synapse signaling pathways. Translational psychiatry. 2023; 13(1): 17.

Autism spectrum disorder (ASD) is a complex behavioral disorder diagnosed by social interaction difficulties, restricted verbal communication, and repetitive behaviors. Fecal microbiota transplantation (FMT) is a safe and efficient strategy to adjust gut microbiota dysbiosis and improve ASD-related behavioral symptoms, but its regulatory mechanism is unknown. The impact of the microbiota and its functions on ASD development is urgently being investigated to develop new therapeutic strategies for ASD. We reconstituted the gut microbiota of a valproic acid (VPA)-induced autism mouse model through FMT and found that ASD is in part driven by specific gut dysbiosis and metabolite changes that are involved in the signaling of serotonergic synapse and glutamatergic synapse pathways, which might be associated with behavioral changes. Further analysis of the microbiota showed a profound decrease in the genera Bacteroides and Odoribacter, both of which likely contributed to the regulation of serotonergic and glutamatergic synapse metabolism in mice. The engraftment of Turicibacter and Alistipes was also positively correlated with the improvement in behavior after FMT. Our results suggested that successful transfer of the gut microbiota from healthy donors to ASD mice was sufficient to improve ASD-related behaviors. Modulation of gut dysbiosis by FMT could be an effective approach to improve ASD-related behaviors in patients.

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