1. Correction to: Is genetic liability to ADHD and ASD causally linked to educational attainment?. Int J Epidemiol;2023 (Dec 25);52(6):1996.

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2. Ehteshami S, Mirzakhani Araghi N, Pashmdarfard M. Psychometric properties of Autism Spectrum Disorders Screening Assessment Tools: Systematic Review. Med J Islam Repub Iran;2023;37:117.

BACKGROUND: Due to the prevalence of autism spectrum disorder (ASD), these children must be screened as soon as possible and receive the necessary and appropriate treatment. The purpose of this study was to examine all the ASD screening tools and examine their psychometric properties in available languages. METHODS: This was a systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to review the articles published between 2000 and 2023 and were published in PubMed, EMBASE, ProQuest, and Scopus databases. English keywords were as follows: autism spectrum disorders (ASD), screening/screen, tools, psychometric properties, validity, reliability, translations, pervasive developmental disorders (PDD), and children. The COnsensus -based Standards for the selection of health Measurement Instruments (COSMIN) checklist were used to investigate the psychometric properties of the studies. RESULTS: Among the 476 primary studies, 35 ASD screening tools (132 articles related to the psychometric properties of 35 ASD screening tools in different languages) were identified based on our criteria, and their psychometric properties were examined. Various tools, including performance-based, direct observation, interactive play, and parent and teacher reports tools, were included in the list of tools. CONCLUSION: Considering that each of these tools has advantages and limitations, they need to be selected and used according to the goals of the researchers and the therapists. Another important point is that many of these tools still need more extensive studies in relation to their psychometric properties.

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3. Fraiman PHA, Silva TYT, Marussi VHR, de Oliveira JB, Barsottini OGP, Pedroso JL. Fragile X premutation mimicking late onset hereditary spastic paraplegia. Parkinsonism Relat Disord;2023 (Dec 25):105964.

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4. Girolamo T, Shen L, Monroe Gulick A, Rice ML, Eigsti IM. Studies assessing domains pertaining to structural language in autism vary in reporting practices and approaches to assessment: A systematic review. Autism;2023 (Dec 25):13623613231216155.

Under the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), language impairment can co-occur with autism. It is not yet clear how research defines, reports, and characterizes structural language abilities of autistic individuals eligible for school-based special education services (aged 3-21 years) in the United States. In the United States, students typically must be formally diagnosed to be eligible for services and supports. However, the quality of diagnosis is only as good as the research evidence on which diagnosis depends. To evaluate evidence quality, we examined how studies of school-aged autistic individuals report assessments of language ability. This systematic review included 57 studies using English language age-referenced assessments used to measure structural language. Findings showed many differences across studies in how language abilities were measured and reported. Also, none of the studies fully reported the variables relevant to characterizing language impairment. Outcomes were similar across versions of the Diagnostic and Statistical Manual of Mental Disorders. Findings indicate that researchers and clinicians should pay attention to reporting diagnostic and grouping criteria. Carefully interpreting research evidence is critical for ensuring that diagnostic criteria and supports are representative of and accessible to autistic individuals and relevant parties.

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5. Grace K, Remington A, Davies J, Crane L. Evaluating measures to assess loneliness in autistic adults. Autism;2023 (Dec 25):13623613231217056.

There has been increasing interest in research on loneliness in autistic adults. Much of this research has involved giving autistic adults widely-used questionnaires that are thought to measure how lonely people are. However, these questionnaires have been developed for the general public. We do not know whether these questionnaires accurately measure how lonely autistic adults are. We asked 203 autistic adults to complete an online survey that included two widely-used loneliness questionnaires: (1) the University of California, Los Angeles (UCLA) Loneliness Scale Version 3 and (2) the Social and Emotional Loneliness Scale for Adults (SELSA). We also asked participants to rate how lonely they were from 1 (often/always) to 5 (never). Participants were then asked to give their views on the questionnaires (e.g. what they thought was good, and what they thought was not so good about them). We found that the scores on the UCLA scale and the SELSA aligned with participants’ ratings of how lonely they were, which suggests that these two questionnaires accurately measure loneliness in autistic people. However, our participants also identified several ways to improve the questionnaires. This included (1) better distinguishing the characteristics/experiences of loneliness from those of being autistic; (2) better reflecting how loneliness may change at different times and in different contexts and (3) making the phrasing of the questions clearer. Overall, our autistic participants tended to prefer the UCLA scale to the SELSA. Therefore, we present some recommendations about how the UCLA scale could be changed to be more suitable for autistic people.

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6. Hargreave M, Jezek AH, Hemmingsen CH, Andersen EA, Pagsberg AK, Holmberg T, Mørch LS, Kjaer SK. Maternal use of hormonal contraception and risk of childhood autism spectrum disorders: A Parental Exposures and Child Health (PECH) cohort study. Psychiatry Res;2023 (Dec 25);332:115695.

A recent hypothesis suggests that maternal hormonal contraception use has contributed to the increasing incidence of autism spectrum disorders (ASD). We used a nationwide population-based cohort (the PECH cohort) including 1,056,149 Danish children born in the period January 1, 1998, to December 31, 2014, to assess associations between maternal hormonal contraception use and childhood ASD (end of follow-up: December 31, 2017). Maternal hormonal contraception use was grouped as « recent use » (≤ 3 months before pregnancy start or during pregnancy), « previous use » (>3 months before pregnancy start) and « never use », except for few products. Incidence rate ratios (IRRs) were estimated using Poisson regression. During follow-up of nearly 12 million person-years, 19,996 children were diagnosed with ASD. A slightly higher IRR was observed for maternal recent use of any hormonal contraception, compared to previous use. This association was largely driven by the non-oral progestin-only products, and associations were especially seen for infantile autism and other/unspecified ASD. An increased IRR of infantile autism was also observed for recent use of the oral progestin-only products, compared to previous use. Our results suggest that maternal use of hormonal contraception may be associated with ASD risk in children, especially for the progestin-only products.

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7. Hnoonual A, Plong-On O, Worachotekamjorn J, Charalsawadi C, Limprasert P. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature. Clin Chim Acta;2023 (Dec 23);553:117728.

BACKGROUND: Fragile X syndrome (FXS) is mainly caused by FMR1 CGG repeat expansions. Other types of mutations, particularly deletions, are also responsible for FXS phenotypes, however these mutations are often missed by routine clinical testing. MATERIALS AND METHODS: Molecular diagnosis in cases of suspected FXS was a combination of PCR and Southern blot. Measurement of the FMRP protein level was useful for detecting potentially deleterious impact. RESULTS: PCR analysis and Southern blot revealed a case with premutation and suspected deletion alleles. Sanger sequencing showed that the deletion involved 313 bp upstream of repeats and some parts of CGG repeat tract, leaving transcription start site. FMRP was detected in 5.5 % of blood lymphocytes. CONCLUSION: According to our review of case reports, most patients carrying microdeletion and full mutation had typical features of FXS. To our knowledge, our case is the first to describe mosaicism of a premutation and microdeletion in the FMR1 gene. The patient was probably protected from the effects of the deletion by mosaicism with premutation allele, leading to milder phenotype. It is thus important to consider appropriate techniques for detecting FMR1 variants other than repeat expansions which cannot be detected by routine FXS diagnosis.

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8. Hu W, Jiang G, Han J, Li X, Xie P. Regional-asymmetric Adaptive Graph Convolutional Neural Network for Diagnosis of Autism in Children with Resting-state EEG. IEEE Trans Neural Syst Rehabil Eng;2023 (Dec 25);Pp

Currently, resting-state electroencephalography (rs-EEG) has become an effective and low-cost evaluation way to identify autism spectrum disorders (ASD) in children. However, it is of great challenge to extract useful features from raw rs-EEG data to improve diagnosis performance. Traditional methods mainly rely on the design of manual feature extractors and classifiers, which are separately performed and cannot be optimized simultaneously. To this end, this paper proposes a new end-to-end diagnostic method based on a recently emerged graph convolutional neural network for the diagnosis of ASD in children. Inspired by related neuroscience findings on the abnormal brain functional connectivity and hemispheric asymmetry characteristics observed in autism patients, we design a new Regional-asymmetric Adaptive Graph Convolutional Neural Network (RAGNN). It utilizes a hierarchical feature extraction and fusion process to learn separable spatiotemporal EEG features from different brain regions, two hemispheres, and a global brain. In the temporal feature extraction section, we utilize a convolutional layer that spans from the brain area to the hemisphere. This allows for effectively capturing temporal features both within and between brain areas. To better capture spatial characteristics of multi-channel EEG signals, we employ adaptive graph convolutional learning to capture non-Euclidean features within the brain’s hemispheres. Additionally, an attention layer is introduced to highlight different contributions of the left and right hemispheres, and the fused features are used for classification. We conducted a subject-independent cross-validation experiment on rs-EEG data from 45 children with ASD and 45 typically developing (TD) children. Experimental results have shown that our proposed RAGNN model outperformed several existing deep learning-based methods (ShaollowNet, EEGNet, TSception, ST-GCN, and CGRU-MDGN).

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9. Javik Dorantes-Barrios C, Reyes-Meza V, Camacho-Candia JA, Pfaus JG, González-Flores O. Influence of environmental enrichment on sexual behavior and the process of learning and memory in a rat model of autism with valproic acid. Brain Res;2023 (Dec 22);1827:148738.

Autism spectrum disorder (ASD) is a psychiatric disorder with severe behavioral consequences and no specific therapy. Its etiology is multifactorial, as it is caused by a complex interaction of genetic and environmental factors. In rats, prenatal exposure to the antiepileptic drug valproic acid (VPA) has been associated with an increased risk of autistic-like behaviors in offspring, including social behavior deficits, increased repetitive behaviors, and cognitive impairments. In addition, VPA-treated rats have shown altered sociosexual behaviors. However, the mechanisms underlying these alterations in reproductive processes in VPA-treated rats are not fully understood. Interestingly some abnormal behaviors in VPA autism models are improved by an enriched environment (EE). In the present study, we examined the effects of EE on memory performance and sexual behavior in male rats. We found that on postnatal day 90, EE reduced the time it took for both control and VPA-treated groups to find a hidden platform in the Morris water maze. On PND 100, prenatal exposure to VPA reduced total exploring time in object recognition tests. On PND 110, EE reduced mount and intromission latency and increased ejaculatory frequency in VPA-treated male rats. These results suggest that environmental stimuli significantly influence the onset of sexual behavior in VPA-treated male rats and that EE may be a potential tool for improving a variety of behavioral deficiencies in rodent models of autism.

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10. O’Connor RA, Doherty M, Ryan-Enright T, Gaynor K. Perspectives of autistic adolescent girls and women on the determinants of their mental health and social and emotional well-being: A systematic review and thematic synthesis of lived experience. Autism;2023 (Dec 25):13623613231215026.

Difficulties with mental health and low levels of well-being are more common among autistic girls and women than non-autistic people, but we do not fully understand why. Research does not focus enough on what autistic girls and women could tell us about this. This review aims to summarise the studies where autistic girls and women explain things that affect their mental health and well-being to help us understand how to prevent these difficulties from developing. Three research databases were searched to find possibly relevant studies. There were 877 studies found, which two researchers screened according to particular criteria. They found 52 studies that could be included in this review. One researcher evaluated the quality of these studies and extracted the key information from them. This review summarises the views of 973 autistic girls and women aged between 13 and 70+. The findings from the 52 studies were analysed, and we found many factors that affect the mental health and well-being of autistic girls and women. These factors fall into two categories: (1) difficulties living in a world not designed for autistic people and (2) the impact of stigma due to being autistic.

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11. Teimouri Sangani M, Nakhostin Ansari N, Soleymani Z, Jalilevand N, Sohrabi M, Mohamadi R, Razjouyan K. Narrative Microstructure and Macrostructure Skills of Persian-Speaking Children with Autism Spectrum Disorder. Med J Islam Repub Iran;2023;37:119.

BACKGROUND: Studies examining narrative production skills in children with autism spectrum disorder (ASD) have demonstrated variable and inconsistent results. This study aimed to investigate to what extent narrative difficulties in children with ASD reflect difficulties with language. METHODS: Accordingly, the spoken narrative skills of 16 children with ASD were compared with those of their 16 chronological age-matched (CAM) and 16 language-matched (LM) peers. A Kruskal-Wallis non-parametric test was then used to examine the differences between groups in regard to NTC, NSG and SI variables .For other studied variables (NTW, number of T-units, ATL and total score), one-way analysis of variances (ANOVA) was also used. RESULTS: At the level of microstructure, the results showed that productivity (number of total words, total clauses, and T-unites) and syntactic complexity (average of T-unit length and subordination index) were predominantly similar in ASD and LM children. However, children with ASD scored lower than their CAM counterparts (P < 0.001). At the macrostructure level, we found that the total score of story grammar elements and the number of story grammars in the narrative production of children with ASD were lower than those in both CAM and LM children (P < 0.001). CONCLUSION: The present study, thus, showed that creating a coherent narrative could be more demanding for children with ASD than productivity and syntactic complexity.

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12. Yadollahi-Farsani Y, Vanani VR, Lorigooini Z, Farahzad A, Amini-Khoei H. Anethole via increase in the gene expression of PI3K/AKT/mTOR mitigates the autistic-like behaviors induced by maternal separation stress in mice. IBRO Neurosci Rep;2024 (Jun);16:1-7.

Autism spectrum disorder (ASD) is a neurodegenerative disease with increasing incidence in the world. The maternal separation (MS) stress at early life with its own neuroendocrine and neurostructural changes can provide the basis for development of ASD. Previously it has been reported neuroprotective characteristics for anethole. The PI3K/AKT/mTOR signaling pathway has pivotal role in the function of central nervous system (CNS). This study aimed to evaluate the possible effects of anethole on the autistic-like behaviors in the maternally separated (MS) mice focusing on the potential role of the PI3K/AKT/mTOR pathway. Forty male Naval Medical Research Institute (NMRI) mice were assigned to five groups (n = 8) comprising a control group (treated with normal saline) and four groups subjected to MS and treated with normal saline and or anethole at doses of 31.25, 62.5 and 125 mg/kg, respectively. All gents were administrated via intraperitoneal (i.p.) route for 14 constant days. Behavioral tests were conducted, including the three-chamber test, shuttle box and resident-intruder test. The gene expression of the PI3K, AKT and mTOR assessed in the hippocampus by qRT-PCR. Findings indicated that MS is associated with autistic-like behaviors. Anethole increased the sociability and social preference indexes in the three-chamber test, increased duration of secondary latency in the shuttle box test and decreased aggressive behaviors in the resident-intruder test. Also, anethole increased the gene expression of PI3K, AKT and mTOR in the hippocampus of MS mice. We concluded that anethole through increase in the gene expression of PI3K/ AKT/mTOR mitigated autistic-like behaviors induced by MS in mice.

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