1. Benson JC, Eschbacher KL, Raghunathan A, Johnson D, Kim DK, Van Gompel J. Cavernous Sinus Vascular Venous Malformation. AJNR American journal of neuroradiology. 2022; 43(1): 19-23.

Vascular venous malformations of the cavernous sinus have multiple imaging features that can be used to distinguish them from other entities in the region. Accurate identification of these lesions is essential: Vascular venous malformation lesions carry considerable risk of intraoperative hemorrhage, so preoperative recognition of vascular venous malformations can greatly impact the treatment strategies used. Nevertheless, because of their scarcity, many radiologists are unfamiliar with the radiologic and clinical features of cavernous sinus vascular venous malformations. This article will describe a case of an asymptomatic vascular venous malformation; outline its imaging, clinical, and pathologic features; and review the relevant literature regarding this diagnosis.

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2. Bitsika V, Heyne DA, Sharpley CF. The inverse association between psychological resilience and emerging school refusal among bullied autistic youth. Research in developmental disabilities. 2022; 120: 104121.

BACKGROUND: Autistic youth are often bullied at school, which may lead to school refusal (SR). Currently, there is little research on factors that may help prevent SR among autistic youth. To advance theory-driven preventative interventions, this study examined associations between psychological resilience and emerging SR (ESR) among autistic youth bullied at school. METHODS: Fifty-eight autistic boys in elementary school (grades 1-6; n = 36) or secondary school (grades 8-11; n = 22) who were bullied at school responded to an online survey, as did their mothers. Boys reported on the experience of being bullied, psychological resilience (via the Social Emotional Assets and Resilience Scale), and ESR. Their mothers provided information regarding the boys’ Autism Spectrum Disorder (ASD) diagnosis. RESULTS: Fifty-six percent of this sample of bullied autistic youth displayed ESR. For the secondary school boys there was a significant inverse relationship between psychological resilience and ESR, principally via two characteristics of psychological resilience: ‘controlling negative thoughts’ and ‘remaining calm when angry’. No significant relationship was found between psychological resilience and ESR among elementary school boys. CONCLUSION: Longitudinal research is needed to determine whether psychological resilience serves as a factor protecting against the emergence of SR among autistic youth who have been bullied.

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3. Broc L, Brassart E, Bragard A, Olive T, Schelstraete MA. Focus on the Narrative Skills of Teenagers With Developmental Language Disorder and High Functioning Autism. Frontiers in psychology. 2021; 12: 721283.

Purpose: Narratives of personal experiences emerge early in language acquisition and are particularly commonly experienced in children’s daily lives. To produce these stories, children need to develop narrative, linguistic, and social-cognitive skills. Research has shown that these skills are impaired in children with developmental language disorder (DLD) and high functioning autism (HFA). Aim: This study aimed to determine whether narrative skills are still impaired in adolescence and to highlight the language similarities and differences between teenagers with DLD and HFA in the production of a narrative of a personal experience. Method: Ten teenagers with DLD, 10 teenagers with HFA and 10 typically developing (TD) teenagers, matched on chronological age, told a narrative of a personal experience. These stories were analyzed to evaluate narrative skills through coherence (respect of the narrative schema) and cohesion (anaphora and connectors) and social-cognitive skills (affective and cognitive mental states of the characters, and arbitrary vocalizations such as voice noises). Results: Teenagers with DLD were less compliant with the complication step in the narrative schema than teenagers with HFA or TD. No difference was observed between the three groups of teenagers in terms of cohesion or regarding the positive and negative social-cognitive skills used in narratives. Conclusion: When producing a narrative of a personal experience, HFA teens do not have difficulties neither with narrative skills and with social-cognitive skills assessed in this paper. In DLD the profile of the teens is not the same: They do not have difficulties with social-cognitive skills and with a part of narrative skills (cohesion), and they have difficulties with the narrative schema.

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4. Coughlan B, Woolgar M, van IMH, Duschinsky R. Socioemotional profiles of autism spectrum disorders, attention deficit hyperactivity disorder, and disinhibited and reactive attachment disorders: a symptom comparison and network approach. Development and psychopathology. 2021: 1-10.

Children with autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD) and disinhibited and reactive attachment disorders (RAD/DAD) often experience socioemotional problems. Elucidating a clear picture of these profiles is essential. Strengths and Difficulties Questionnaires (SDQs) were analysed from cohort of children with ASD (n = 1430), ADHD (n = 1193), and RAD/DAD (n = 39). Kruskal-Wallis Tests and network analytic techniques were used to investigate symptom profiles. Children with ASD experienced more emotional problems, peer problems and fewer prosocial behaviours. Children with ADHD and RAD/DAD had higher levels of hyperactivity and conduct problems. Overall, ASD and ADHD networks were highly correlated (rs = 0.82), and we did not observe a statistically significant difference in terms of global Strength.

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5. DiGuiseppi C, Crume T, Van Dyke J, Sabourin KR, Soke GN, Croen LA, Daniels JL, Lee LC, Schieve LA, Windham GC, Friedman S, Robinson Rosenberg C. Peri-Pregnancy Cannabis Use and Autism Spectrum Disorder in the Offspring: Findings from the Study to Explore Early Development. Journal of autism and developmental disorders. 2021.

The association of autism spectrum disorder (ASD) with self-reported maternal cannabis use from 3 months pre-conception to delivery (« peri-pregnancy ») was assessed in children aged 30-68 months, born 2003 to 2011. Children with ASD (N = 1428) were compared to children with other developmental delays/disorders (DD, N = 1198) and population controls (POP, N = 1628). Peri-pregnancy cannabis use was reported for 5.2% of ASD, 3.2% of DD and 4.4% of POP children. Adjusted odds of peri-pregnancy cannabis use did not differ significantly between ASD cases and DD or POP controls. Results were similar for any use during pregnancy. However, given potential risks suggested by underlying neurobiology and animal models, further studies in more recent cohorts, in which cannabis use and perception may have changed, are needed.

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6. Ghafouri-Fard S, Noroozi R, Brand S, Hussen BM, Eghtedarian R, Taheri M, Ebrahimzadeh K. Emerging Role of Non-coding RNAs in Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2022; 72(2): 201-16.

Autism spectrum disorders (ASD) embrace a diverse set of neurodevelopmental diseases with a multifaceted genetic basis. Non-coding RNAs (ncRNAs) are among putative loci with critical participation in the development of ASD. Expression of some lncRNAs, namely RP11-466P24.2, SYP-AS1, STXBP5-AS1, and IFNG-AS1 has been decreased in ASD, while AK128569, CTD-2516F10.2, MSNP1AS, RPS10P2-AS1, LINC00693, LINC00689, NEAT1, TUG1, and Shank2-AS lncRNAs have been over-expressed in ASD. Expression of several miRNAs which are implicated in the immunological developmental, immune responses, and protein synthesis as well as those participating in the regulation of PI3K/Akt/mTOR and EGFR signaling pathways is dysregulated in the context of ASD. In the present article, we describe investigations which appraised the role of lncRNAs, miRNAs, and circRNAs in the pathobiology of ASD.

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7. Sauer A, Warashina S, Mishra SM, Lesser I, Kirchhöfer K. Downstream processing of spray-dried ASD with hypromellose acetate succinate – Roller compaction and subsequent compression into high ASD load tablets. International journal of pharmaceutics: X. 2021; 3: 100099.

Despite wide commercial application of hypromellose acetate succinate (HPMCAS) in spray-dried amorphous solid dispersion (ASD) drug products, little information is available in the references on downstream processing of spray-dried dispersions with HPMCAS. Poor flow and high dilution factor are a challenge in formulating spray-dried ASDs into tablets, leaving little space for other excipients facilitating binding and disintegration. Direct compression is not possible due to the poor powder flow of spray-dried ASDs. Moisture has to be avoided due to the plasticizing properties of water on the ASD, resulting in reduced stability of the amorphous state. Thus, dry granulation by roller compaction and subsequent tablet compression is the preferred downstream process. We report the investigation of downstream processing by roller compaction and tablet compression of a high load formulation with 75% of spray-dried amorphous solid dispersion (Nifedipine:HPMCAS 1:2). A head to head comparison of microcrystalline cellulose/croscarmellose (MCC/cl-NaCMC) as binder/disintegrant vs. MCC and low-substituted hydroxypropyl cellulose (L-HPC) as excipient for binding and disintegration showed improved re-workability of the formulation with MCC/L-HPC after roller compaction. Upon transfer to the rotary press, a 45% higher tensile strength of tablets is observed after dry granulation with MCC/L-HPC.

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8. Verhoef E, Grove J, Shapland CY, Demontis D, Burgess S, Rai D, Børglum AD, St Pourcain B. Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy. Nature communications. 2021; 12(1): 6534.

Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are complex co-occurring neurodevelopmental conditions. Their genetic architectures reveal striking similarities but also differences, including strong, discordant polygenic associations with educational attainment (EA). To study genetic mechanisms that present as ASD-related positive and ADHD-related negative genetic correlations with EA, we carry out multivariable regression analyses using genome-wide summary statistics (N = 10,610-766,345). Our results show that EA-related genetic variation is shared across ASD and ADHD architectures, involving identical marker alleles. However, the polygenic association profile with EA, across shared marker alleles, is discordant for ASD versus ADHD risk, indicating independent effects. At the single-variant level, our results suggest either biological pleiotropy or co-localisation of different risk variants, implicating MIR19A/19B microRNA mechanisms. At the polygenic level, they point to a polygenic form of pleiotropy that contributes to the detectable genome-wide correlation between ASD and ADHD and is consistent with effect cancellation across EA-related regions.

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9. Waltereit J, Czieschnek C, Albertowski K, Roessner V, Waltereit R. Family and Developmental History of Individuals With Autism Spectrum Disorder: Importance of the Clinical Diagnostic Interview for Diagnosis in Adolescents. An Explorative Study. Frontiers in psychiatry. 2021; 12: 703023.

Background: Diagnosis of autism spectrum disorder (ASD) can be made early in childhood, but also later in adolescence or adulthood. In the latter cases, concerns about an individual’s behavior typically lead to consultation of a mental health professional (MHP). As part of the initial clinical examination by the MHP, a clinical diagnostic interview is performed, in order to obtain the patient’s history, and may lead to the hypothesis of ASD. We were here interested to study family and developmental history as key parts of the patient’s history. The aim of the study was to investigate empirical differences between adolescents with ASD and adolescent control persons in family and developmental history. Method: Clinical diagnostic interview items addressing family and developmental history were adopted from their regular use at several university hospitals and in leading textbooks. Parents of male adolescents with normal intelligence and an ASD diagnosis (n = 67) and parents of male adolescents without psychiatric diagnosis (n = 51) between the age of 12 and 17 years were investigated. Data were operationalized into three categories: 0 = normal behavior, 1 = minor pathological behavior, and 2 = major pathological behavior. Differences were analyzed by multiple t-test of two-way ANOVA. Results: Adolescents with ASD expressed a profile of items significantly differing from control persons. Comparison of significant items with the empirical ASD literature indicated robust accordance. Conclusions: Our findings support the importance and feasibility of the clinical diagnostic interview of family and developmental history for initiation of the diagnostic process of ASD in adolescents.

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10. Whitely A, Shandley K, Huynh M, Brown CM, Austin DW, Bhowmik J. Brief Report: Pregnancy, Birth and Infant Feeding Practices: A Survey-Based Investigation into Risk Factors for Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

A succession of interconnected environmental factors is believed to contribute substantially to the development of autism spectrum disorder (ASD). This exploratory study therefore aims to identify potential risk factors for ASD that are associated with pregnancy, birth and infant feeding. Demographic and health-related data on children aged 3-13 years (N = 4306) was collected through an online survey completed by biological mothers. A fitted logistic regression model identified advanced maternal age, prenatal bleeding, pre-eclampsia, perinatal pethidine usage, foetal distress before birth and male sex of child as associated with an increased risk of ASD, whereas longer gestational duration demonstrated a protective effect. These findings highlight potential risk factors and predictor interrelationships which may contribute to overall ASD risk.

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11. Yap CX, Henders AK, Alvares GA, Wood DLA, Krause L, Tyson GW, Restuadi R, Wallace L, McLaren T, Hansell NK, Cleary D, Grove R, Hafekost C, Harun A, Holdsworth H, Jellett R, Khan F, Lawson LP, Leslie J, Frenk ML, Masi A, Mathew NE, Muniandy M, Nothard M, Miller JL, Nunn L, Holtmann G, Strike LT, de Zubicaray GI, Thompson PM, McMahon KL, Wright MJ, Visscher PM, Dawson PA, Dissanayake C, Eapen V, Heussler HS, McRae AF, Whitehouse AJO, Wray NR, Gratten J. Autism-related dietary preferences mediate autism-gut microbiome associations. Cell. 2021; 184(24): 5916-31.e17.

There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. We performed a large autism stool metagenomics study (n = 247) based on participants from the Australian Autism Biobank and the Queensland Twin Adolescent Brain project. We found negligible direct associations between ASD diagnosis and the gut microbiome. Instead, our data support a model whereby ASD-related restricted interests are associated with less-diverse diet, and in turn reduced microbial taxonomic diversity and looser stool consistency. In contrast to ASD diagnosis, our dataset was well powered to detect microbiome associations with traits such as age, dietary intake, and stool consistency. Overall, microbiome differences in ASD may reflect dietary preferences that relate to diagnostic features, and we caution against claims that the microbiome has a driving role in ASD.

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