1. Briend F, David C, Silleresi S, Malvy J, Ferré S, Latinus M. Voice acoustics allow classifying autism spectrum disorder with high accuracy. Translational psychiatry. 2023; 13(1): 250.

Early identification of children on the autism spectrum is crucial for early intervention with long-term positive effects on symptoms and skills. The need for improved objective autism detection tools is emphasized by the poor diagnostic power in current tools. Here, we aim to evaluate the classification performance of acoustic features of the voice in children with autism spectrum disorder (ASD) with respect to a heterogeneous control group (composed of neurotypical children, children with Developmental Language Disorder [DLD] and children with sensorineural hearing loss with Cochlear Implant [CI]). This retrospective diagnostic study was conducted at the Child Psychiatry Unit of Tours University Hospital (France). A total of 108 children, including 38 diagnosed with ASD (8.5 ± 0.25 years), 24 typically developing (TD; 8.2 ± 0.32 years) and 46 children with atypical development (DLD and CI; 7.9 ± 0.36 years) were enrolled in our studies. The acoustic properties of speech samples produced by children in the context of a nonword repetition task were measured. We used a Monte Carlo cross-validation with an ROC (Receiving Operator Characteristic) supervised k-Means clustering algorithm to develop a classification model that can differentially classify a child with an unknown disorder. We showed that voice acoustics classified autism diagnosis with an overall accuracy of 91% [CI95%, 90.40%-91.65%] against TD children, and of 85% [CI95%, 84.5%-86.6%] against an heterogenous group of non-autistic children. Accuracy reported here with multivariate analysis combined with Monte Carlo cross-validation is higher than in previous studies. Our findings demonstrate that easy-to-measure voice acoustic parameters could be used as a diagnostic aid tool, specific to ASD.

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2. Casanova EL. Ancient roots: A Cambrian explosion of autism susceptibility genes. Autism research : official journal of the International Society for Autism Research. 2023.

Functional gene groups often share unique evolutionary patterns. The present study addresses whether autism susceptibility genes, which frequently share functional overlap, display unusual gene age and conservation patterns compared to other gene groups. Using phylostratigraphically-derived and other genetic data, the investigator explores average gene age, Ohnolog status, evolutionary rate, variation intolerance, and numbers of protein-protein (PPI) interactions across autism susceptibility, nervous system, developmental regulatory, immune, housekeeping, and luxury gene groups. Autism susceptibility genes are unusually old compared to controls, many genes having radiated in the Cambrian period in early vertebrates from whole genome duplication events. They are also tightly conserved across the animal kingdom, are highly variation intolerant, and have more PPI than other genes-all features suggesting extreme dosage sensitivity. The results of the current study indicate that autism susceptibility genes display unique radiation and conservation patterns, which may be a reflection of the major transitions in nervous system evolution that were occurring in early animals and which are still foundational in brain development today.

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3. Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA. Phenotypic variability to medication management: an update on fragile X syndrome. Human genomics. 2023; 17(1): 60.

This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is approximately 1 in 5000-7000 men and 1 in 4000-6000 women worldwide. FXS is associated with the fragile X messenger ribonucleoprotein 1 (FMR1) gene located at locus Xq27.3 and encodes the fragile X messenger ribonucleoprotein (FMRP). Most individuals with FXS have an FMR1 allele with > 200 CGG repeats (full mutation) and hypermethylation of the CpG island proximal to the repeats, which silences the gene’s promoter. Some individuals have mosaicism in the size of the CGG repeats or in hypermethylation of the CpG island, both produce some FMRP and give rise to milder cognitive and behavioral deficits than in non-mosaic individuals with FXS. As in several monogenic disorders, modifier genes influence the penetrance of FMR1 mutations and FXS’s variable expressivity by regulating the pathophysiological mechanisms related to the syndrome’s behavioral features. Although there is no cure for FXS, prenatal molecular diagnostic testing is recommended to facilitate early diagnosis. Pharmacologic agents can reduce some behavioral features of FXS, and researchers are investigating whether gene editing can be used to demethylate the FMR1 promoter region to improve patient outcomes. Moreover, clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 and developed nuclease defective Cas9 (dCas9) strategies have promised options of genome editing in gain-of-function mutations to rewrite new genetic information into a specified DNA site, are also being studied.

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4. Nishida T, Suzumura N, Nakanishi Y, Maki N, Komeda H, Kawasaki M, Funabiki Y. Measurements of the lateral cerebellar hemispheres using near-infrared spectroscopy through comparison between autism spectrum disorder and typical development. Neuroscience letters. 2023; 812: 137381.

The cerebellum plays a vital role in cognition, communication with the cerebral cortex, and fine motor coordination. Near-infrared spectroscopy (NIRS) is a portable, less restrictive, and noninvasive functional brain imaging method that can capture brain activity during movements by measuring the relative oxyhemoglobin (oxy-Hb) concentrations in the blood. However, the feasibility of using NIRS to measure cerebellar activity requires discussion. We compared NIRS responses between areas assumed to be the cerebellum and the occipital lobe during a fine motor task (tying a bow knot) and a visual task. Our results showed that the oxy-Hb concentration increased more in the occipital lobe than in the cerebellum during the visual task (p =.034). In contrast, during the fine motor task, the oxy-Hb concentration decreased in the occipital lobe but increased significantly in the cerebellum, indicating a notable difference (p =.015). These findings suggest that we successfully captured cerebellar activity associated with processing, particularly fine motor coordination. Moreover, the observed responses did not differ between individuals with autism spectrum disorder and those with typical development. Our study demonstrates the meaningful utility of NIRS as a method for measuring cerebellar activity during movements.

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5. Schenk K, Weimer AA, Warnell KR. Assessing Child Life Specialists’ Management of Challenging Behaviors in Autistic Pediatric Patients. Journal of autism and developmental disorders. 2023.

Given that autistic children are hospitalized at higher rates than neurotypical peers, it is important to understand the autism-specific preparedness of healthcare providers. Certified Child Life Specialists (CCLSs) play a crucial role in pediatric hospitalizations by providing socioemotional support and coping strategies. The present study assessed perceived competency and comfort levels among 131 CCLSs regarding the management of challenging behaviors exhibited by autistic pediatric patients, including aggression and self-injury. All participants reported experiences providing care to autistic children who exhibited challenging behaviors, but very few reported both high perceived competency and high comfort in managing these behaviors. Autism-specific training positively correlated with perceived competency and comfort. These results have implications for providing autistic children high quality hospital care.

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6. Shao W, Zheng H, Zhu J, Li W, Li Y, Hu W, Zhang J, Jing L, Wang K, Jiang X. Deletions of Cacna2d3 in parvalbumin-expressing neurons leads to autistic-like phenotypes in mice. Neurochemistry international. 2023: 105569.

Autism spectrum disorder (ASD) is a series of highly inherited neurodevelopmental disorders. Loss-of-function (LOF) mutations in the CACNA2D3 gene are associated with ASD. However, the underlying mechanism is unknown. Dysfunction of cortical interneurons (INs) is strongly implicated in ASD. Parvalbumin-expressing (PV) INs and somatostatin-expressing (SOM) INs are the two most subtypes. Here, we characterized a mouse knockout of the Cacna2d3 gene in PV-expressing neurons (PV(Cre);Cacna2d3(f/f) mice) or in SOM-expressing neurons (SOM(Cre);Cacna2d3(f/f) mice), respectively. PV(Cre);Cacna2d3(f/f) mice showed deficits in the core ASD behavioral domains (including impaired sociability and increased repetitive behavior), as well as anxiety-like behavior and improved spatial memory. Furthermore, loss of Cacna2d3 from a subset of PV neurons results in a reduction of GAD67 and PV expression in the medial prefrontal cortex (mPFC). These may underlie the increased neuronal excitability in the mPFC, which contribute to the abnormal social behavior in PV(Cre);Cacna2d3(f/f) mice. Whereas, SOM(Cre);Cacna2d3(f/f) mice showed no obvious deficits in social, cognitive, or emotional phenotypes. Our findings provide the first evidence suggesting the causal role of Cacna2d3 insufficiency in PV neurons in autism.

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7. Unwin KL, Powell G, Price A, Jones CR. Patterns of equipment use for autistic children in multi-sensory environments: Time spent with sensory equipment varies by sensory profile and intellectual ability. Autism : the international journal of research and practice. 2023: 13623613231180266.

Multi-sensory environments, often called sensory rooms, are widely used with autistic children. However, we know very little about how autistic children choose to spend their time in multi-sensory environments. We also do not know how their equipment preferences relate to their individual characteristics such as their sensory differences, level of ability or general autistic behaviours. We measured the frequency and duration of visits to multi-sensory environment equipment of 41 autistic children during 5 min of free play. The bubble tube and touch, sound and light board were both highly popular, with the fibre optics and tactile board receiving less attention. The children displayed significantly more sensory seeking behaviours in the multi-sensory environment than sensory-defensive behaviours. These sensory seeking behaviours, as well as the sensory behaviours that their parents reported they showed in daily life, were associated with specific patterns of multi-sensory environment equipment use. Non-verbal ability was also associated with multi-sensory environment equipment use, but broader autistic behaviours were not. Our findings show that the multi-sensory environment equipment preferences of autistic children are related to individual differences in sensory behaviours and non-verbal ability. This information could be useful for teachers and other practitioners who want to know how best to use multi-sensory environments with autistic children.

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8. Zarezadeh M, Mahmoudinezhad M, Hosseini B, Khorraminezhad L, Razaghi M, Alvandi E, Saedisomeolia A. Dietary pattern in autism increases the need for probiotic supplementation: A comprehensive narrative and systematic review on oxidative stress hypothesis. Clinical nutrition (Edinburgh, Scotland). 2023; 42(8): 1330-58.

Autism spectrum disorders (ASDs) are associated with specific dietary habits, including limited food selection and gastrointestinal problems, resulting in an altered gut microbiota. Autistic patients have an elevated abundance of certain gut bacteria associated with increased oxidative stress in the gastrointestinal tract. Probiotic supplementation has been shown to decrease oxidative stress in a simulated gut model, but the antioxidant effects of probiotics on the oxidative stress of the gut in autistic patients have not been directly studied. However, it is speculated that probiotic supplementation may help decrease oxidative stress in the gastrointestinal tract of autistic patients due to their specific dietary habits altering the microbiota. PubMed, Scopus and Web of Science databases and Google Scholar were searched up to May 2023. This systematic-narrative review aims to present the latest evidence regarding the changes in eating habits of autistic children which may further increase the gut microbiota induced oxidative stress. Additionally, this review will assess the available literature on the effects of probiotic supplementation on oxidative stress parameters.

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