1. Abdullahi I, Sadka N, Gilbert M, Barbaro J. Who Is Attending? The Role of Child Ethnicity and Maternal Demographics in Research Engagement and Early Identification of Autism. Brain sciences. 2023; 13(6).

Inequitable access to early autism developmental surveillance is evident globally. However, there is limited research examining autism diagnosis, ethnicity, and community profiles when engaging in research for the early identification of autism. We aimed to understand the relationships between child ethnicity, maternal demographics, and autism diagnosis, comparing retrospective data from the 2016 census for eight local government areas (LGAs) in Victoria, Australia. Maternal and child health (MCH) nurses monitored 13,511 children under 42 months for the early signs of autism using the Social Attention Communication Surveillance-Revised (SACS-R) and SACS-R Preschool (SACS-PR) tools during well-child checks. Of these, 340 children with a « high likelihood » of autism attended developmental assessments. Participants’ maternal ethnicity (‘European maternal ethnicity’, EME; ‘non-European maternal ethnicity,’ N-EME; ‘mixed maternal ethnicity,’ MME’), socioeconomic factors, and autism prevalence were compared to their LGA community. Results indicated that study participants were representative of their LGA communities, though bi- and multilingualism was higher in our cohort. Differences in current maternal employment, maternal education, annual family income, and autism prevalence were found between the N-EME, EME, and MME groups. Our study found that research engagement was driven by maternal education, maternal employment, and annual family income, and further research is required to understand these relationships.

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2. Aljubour A, AbdElBaki M, El Meligy O, Al-Jabri B, Sabbagh H. Effect of Culturally Adapted Dental Visual Aids on Anxiety Levels in Children with Autism Spectrum Disorder: A Randomized Clinical Trial. Children (Basel, Switzerland). 2023; 10(6).

Autism spectrum disorder (ASD) prevalence has risen dramatically in recent decades; it is now common for children with ASD to seek dental care. Because their distinct behavioral patterns prevent them from receiving dental care in a traditional dental clinic, structured dental visual aids are required to help prepare them for their dental appointment. This study aimed to test the effect of « culturally adapted dental visual aids » in decreasing anxiety levels during dental visits in children with autism spectrum disorder (ASD). A randomized, controlled, blinded clinical trial was performed. Sixty-four children with ASD ages 6-12 years were assigned randomly into test and control groups based on the type of dental visual aids they received. The test group received « culturally adapted dental visual aids » created especially for the study, and the control group received « regular dental visual aids ». Anxiety levels were assessed before and after using both dental visual aids. All data were processed using SPSS version 25.0. The test group had a significant decrease in anxiety levels compared to the control group (p < 0.001). The "culturally adapted dental visual aids" have effectively reduced anxiety levels in children with ASD during dental visits.

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3. Al-Mazidi SH, El-Ansary A, Abualnaja A, AlZarroug A, Alharbi T, Al-Ayadhi LY. Exploring the Potential Role of ADAM 17 and ADAM 22 in the Etiology of Autism Spectrum Disorders. Brain sciences. 2023; 13(6).

BACKGROUND: Autism spectrum disorder (ASD) encompasses a group of disorders characterized by difficulties with social interaction and repetitive behavior. The condition is supposed to originate from early shifts in brain development, while the underlying processes are unknown. Moreover, a considerable number of patients with ASD experience digestive difficulties. Metalloproteases (ADAMs) are a class of enzymes capable of cleaving membrane-bound proteins. Members of this family, ADAM17 and ADAM22, have the ability to cleave proteins like the pro-inflammatory cytokine TNF-ά and glutamate synaptic molecules, which are both engaged in neuro-inflammation and glutamate excitotoxicity as crucial etiological mechanisms in ASD. ADAM17 and ADAM22 may also have a role in ASD microbiota-gut-brain axis connections by regulating immunological and inflammatory responses in the intestinal tract. SUBJECTS AND METHODS: Using ELISA kits, the plasma levels of ADAM17 and ADAM22 were compared in 40 children with ASD and 40 typically developing children. All of the autistic participants’ childhood autism rating scores (CARS), social responsiveness scales (SRS), and short sensory profiles (SSP) were evaluated as indicators of ASD severity. RESULTS: Our results showed that plasma levels of ADAM17 were significantly lower in ASD children than in control children, while ADAM22 demonstrated non-significantly lower levels. Our data also indicate that while ADAM17 correlates significantly with age, ADAM22 correlates significantly with CARS as a marker of ASD severity. CONCLUSIONS: Our interpreted data showed that alteration in ADAM17 and ADAM22 might be associated with glutamate excitotoxicity, neuroinflammation, and altered gut microbiota as etiological mechanisms of ASD and could be an indicator of the severity of the disorder.

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4. Alqahtani AS, Gufran K, Alsakr A, Alnufaiy B, Al Ghwainem A, Bin Khames YM, Althani RA, Almuthaybiri SM. Oral Healthcare Practices and Awareness among the Parents of Autism Spectrum Disorder Children: A Multi-Center Study. Children (Basel, Switzerland). 2023; 10(6).

This study aimed to evaluate the knowledge and attitudes of the parents of autistic children toward oral health and the practice of oral hygiene habits. A questionnaire was constructed, validated, and distributed to the parents of autistic children at different autistic centers. The questionnaire was divided into three parts: demographic information on the parents of autistic children, the knowledge and attitudes of parents toward oral health, and the practice of oral hygiene habits in the current population. A total of 206 responses were collected. Irrespective of the parents’ educational and employment statuses, most second children were diagnosed with autism, and most of the parents have four or more children. In terms of knowledge and attitudes toward oral health, a total of 90.30% of the patients were aware of the oral healthcare of their child, and 55.80% of parents take them to the dentist for checkups. Moreover, the response to the practice of oral hygiene habits from the parents was positive, and most of the parents assist in the oral hygiene practices of their autistic children. This study showed that most of the parents appeared to have satisfactory knowledge about oral health practices for autistic children. However, additional studies should also be conducted.

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5. Bach B, Vestergaard M. Differential Diagnosis of ICD-11 Personality Disorder and Autism Spectrum Disorder in Adolescents. Children (Basel, Switzerland). 2023; 10(6).

The International Classification of Diseases 11th Revision (ICD-11) introduces fundamentally new diagnostic descriptions for personality disorder and autism spectrum disorder. Instead of the traditional categorical taxonomies, both personality disorder and autism spectrum disorder are described as being on a continuum. Accumulating research has pointed out that, in some cases, adolescents with autism spectrum disorder are at risk of being confused with having a personality disorder, which particularly applies to female adolescents. Case reports describe how adult autistic women struggled with social and identity roles as children and adolescents, using compensatory strategies such as social imitation and other types of camouflaging. Furthermore, some adolescents with autism display emotion dysregulation and self-injury. The ICD-11 recognizes that features of autism spectrum disorder may resemble features of personality disorder, but the two diagnoses have not yet been formally compared to one another. The present article therefore sought to outline and discuss the overlap and boundaries between the ICD-11 definitions of personality disorder and autism spectrum disorder and propose guiding principles that may assist practitioners in differential diagnosis with female adolescents. We specifically highlight how aspects of the self and interpersonal functioning along with emotional, cognitive, and behavioral manifestations may overlap across the two diagnoses. Restricted, repetitive, and inflexible patterns of behavior, interests, and activities are core features of autism spectrum disorder, which may be masked or less pronounced in female adolescents. Collecting a developmental history of the early presence or absence of autistic features is vital for a conclusive diagnosis, including features that are typically camouflaged in females. A number of future directions for research and clinical practice are proposed.

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6. Ball LE, Zhu X. Brief Report Prevalence of Bullying Among Autistic Adolescents in the United States: Impact of Disability Severity Status. Journal of autism and developmental disorders. 2023.

PURPOSE: The purpose of this study was to examine the prevalence of bullying behaviors among autistic and non-autistic adolescents between the ages of 12-17 years in the U.S. and the extent to which the severity of such disability impacts bullying behaviors, based on the 2019-2020 National Survey of Children’s Health. METHODS: Parental reports of bullying perpetration and victimization were used to compare bullying behaviors among a weighted sample of 1011 autistic and 28,016 non-autistic adolescents. RESULTS: Adjusting for participant sex, household income level, highest parent education, and race/ethnicity, autistic adolescents were significantly more likely to engage in bullying perpetration and experience bullying victimization than non-Autistic adolescents. Compared to non-autistic peers, autistic adolescents with moderate/severe autism were most likely to bully others (adjusted odds ratio [aOR] = 1.80, p < 0.05) and experience bullying victimization (aOR = 5.13, p < 0.01). CONCLUSION: This study provides an update on the prevalence of bullying perpetration and victimization among autistic adolescents, however, the influence of factors such as socialization and mental health on bullying behaviors needs exploration.

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7. Battah HW, Lotan M, Moran DS. The Need for a Motor Assessment Tool for Children with Autism-An Opinion Article. Diagnostics (Basel, Switzerland). 2023; 13(12).

There is a lot of evidence that early developmental therapy achieves impressive therapeutic results for those who require it. Therefore, developmental follow-up, which includes the process of monitoring the child’s development over time, makes it possible to identify possible developmental problems and treat them from a young age. This assumption is true in relation to all children with developmental difficulties but is mainly true in the context of children with a diagnosis of autism. However, despite the abundance of developmental scales for the neurotypical population, there are currently no valid scales for assessing motor function for children with autism. The current article focuses on the presentation of the motor delay, identified according to the literature, in many of the children with autism and requires the provision of professional and compatible treatment for these children. This motor delay and the lack of a motor assessment tool for children with autism raises the need for an adapted motor developmental assessment tool, which will produce measurable results, to enable the monitoring of the aforementioned disability and the receiving of tailored treatment from the physiotherapists who deal with the development of children with autism at an early age. The article reviews common existing assessment tools for use in assessing normal development in children with autism, presents the limitations and the challenges that arise when using these assessment tools with children on the autism spectrum and presents the need for a new developmental assessment tool that will be built and validated specifically for children with autism.

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8. Betz CL. Health care transition planning for adolescents and emerging adults with intellectual disabilities and developmental disabilities: Distinctions and challenges. Journal for specialists in pediatric nursing : JSPN. 2023: e12415.

PURPOSE: The purpose of this article is to provide the reader with insight and enhanced understanding of the health care transition planning process for adolescents and emerging adults with intellectual disabilities and developmental disabilities. There are distinctly different programmatic considerations that need to be addressed in advancing their transfer of care to adult providers and promoting their transition to adulthood. These differences are due in part to the federal and state legislative initiatives that were established in the education, rehabilitation, employment, and developmental disabilities service systems. In contrast, no comparable federal and state mandates exist in the system of health care. The legislative mandates in education, rehabilitation, and employment are presented and discussed as well as the federal legislation on rights and protections for individuals with intellectual disabilities and developmental disabilities. Consequently, health care transition (HCT) planning involves application of a framework of care that is characteristically different than the planning efforts undertaken for adolescents and emerging adults (AEA) with special health care needs (SHCN)/disabilities and for typically developing AEA. The best practice HCT recommendations are discussed in the context of this intellectual disabilities and developmental disabilities framework of care. CONCLUSIONS: Health care transition planning for adolescents and emerging adults with intellectual disabilities and developmental disabilities involves additional and distinctly clinical and programmatic models of care. PRACTICE IMPLICATIONS: Health care transition planning guidance for adolescents and emerging adults with intellectual disabilities and developmental disabilities are provided based upon best practice recommendations.

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9. Briguglio M, Turriziani L, Currò A, Gagliano A, Di Rosa G, Caccamo D, Tonacci A, Gangemi S. A Machine Learning Approach to the Diagnosis of Autism Spectrum Disorder and Multi-Systemic Developmental Disorder Based on Retrospective Data and ADOS-2 Score. Brain sciences. 2023; 13(6).

Early and accurate diagnosis of autism spectrum disorders (ASD) and tailored therapeutic interventions can improve prognosis. ADOS-2 is a standardized test for ASD diagnosis. However, owing to ASD heterogeneity, the presence of false positives remains a challenge for clinicians. In this study, retrospective data from patients with ASD and multi-systemic developmental disorder (MSDD), a term used to describe children under the age of 3 with impaired communication but with strong emotional attachments, were tested by machine learning (ML) models to assess the best predictors of disease development as well as the items that best describe these two autism spectrum disorder presentations. Maternal and infant data as well as ADOS-2 score were included in different ML testing models. Depending on the outcome to be estimated, a best-performing model was selected. RIDGE regression model showed that the best predictors for ADOS social affect score were gut disturbances, EEG retrievals, and sleep problems. Linear Regression Model showed that term pregnancy, psychomotor development status, and gut disturbances were predicting at best for the ADOS Repetitive and Restricted Behavior score. The LASSO regression model showed that EEG retrievals, sleep disturbances, age at diagnosis, term pregnancy, weight at birth, gut disturbances, and neurological findings were the best predictors for the overall ADOS score. The CART classification and regression model showed that age at diagnosis and weight at birth best discriminate between ASD and MSDD.

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10. Caredda E, Pedini G, D’Amico F, Scioli MG, Pacini L, Orsaria P, Vanni G, Buonomo OC, Orlandi A, Bagni C, Palombi L. FMRP expression in primary breast tumor cells correlates with recurrence and specific site of metastasis. PloS one. 2023; 18(6): e0287062.

Breast cancer is the most common cancer among women worldwide. Molecular and clinical evidence indicated that Fragile X Messenger Ribonucleoprotein 1 (FMRP) plays a role in different types of cancer, including breast cancer. FMRP is an RNA binding protein that regulates the metabolism of a large group of mRNAs coding for proteins involved in both neural processes and in epithelial-mesenchymal transition, a pivotal mechanism that in cancer is associated to tumor progression, aggressiveness and chemoresistance. Here, we carried out a retrospective case-control study of 127 patients, to study the expression of FMRP and its correlation with metastasis formation in breast cancer. Consistent with previous findings, we found that FMRP levels are high in tumor tissue. Two categories have been analyzed, tumor with no metastases (referred as control tumors, 84 patients) and tumor with distant metastatic repetition, (referred as cases, 43 patients), with a follow-up of 7 years (mean). We found that FMRP levels were lower in both the nuclei and the cytoplasm in the cases compared to control tumors. Next, within the category cases (tumor with metastases) we evaluated FMRP expression in the specific sites of metastasis revealing a nuclear staining of FMRP. In addition, FMRP expression in both the nuclear and cytoplasmic compartment was significantly lower in patients who developed brain and bone metastases and higher in hepatic and pulmonary sites. While further studies are required to explore the underlying molecular mechanisms of FMRP expression and direct or inverse correlation with the secondary metastatic site, our findings suggest that FMRP levels might be considered a prognostic factor for site-specific metastasis.

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11. Cremone IM, Nardi B, Amatori G, Palego L, Baroni D, Casagrande D, Massimetti E, Betti L, Giannaccini G, Dell’Osso L, Carpita B. Unlocking the Secrets: Exploring the Biochemical Correlates of Suicidal Thoughts and Behaviors in Adults with Autism Spectrum Conditions. Biomedicines. 2023; 11(6).

Involving 1 million people a year, suicide represents one of the major topics of psychiatric research. Despite the focus in recent years on neurobiological underpinnings, understanding and predicting suicide remains a challenge. Many sociodemographical risk factors and prognostic markers have been proposed but they have poor predictive accuracy. Biomarkers can provide essential information acting as predictive indicators, providing proof of treatment response and proposing potential targets while offering more assurance than psychological measures. In this framework, the aim of this study is to open the way in this field and evaluate the correlation between blood levels of serotonin, brain derived neurotrophic factor, tryptophan and its metabolites, IL-6 and homocysteine levels and suicidality. Blood samples were taken from 24 adults with autism, their first-degree relatives, and 24 controls. Biochemical parameters were measured with enzyme-linked immunosorbent assays. Suicidality was measured through selected items of the MOODS-SR. Here we confirm the link between suicidality and autism and provide more evidence regarding the association of suicidality with increased homocysteine (0.278) and IL-6 (0.487) levels and decreased tryptophan (-0.132) and kynurenic acid (-0.253) ones. Our results suggest a possible transnosographic association between these biochemical parameters and increased suicide risk.

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12. Dell’Osso L, Cremone IM, Nardi B, Tognini V, Castellani L, Perrone P, Amatori G, Carpita B. Comorbidity and Overlaps between Autism Spectrum and Borderline Personality Disorder: State of the Art. Brain sciences. 2023; 13(6).

Despite the relationship between Autism spectrum disorder (ASD) and personality disorders (PD) still being scarcely understood, recent investigations increased awareness about significant overlaps between some PD and autism spectrum conditions. In this framework, several studies suggested the presence of similarities between BPD and ASD symptoms and traits, based on the recent literature that increasingly reported increased comorbidity rates and significant symptomatologic overlaps between the two conditions. The aim of this review is to describe the available studies about the prevalence of the association between different forms of autism spectrum (full-fledged clinical conditions as well as subthreshold autistic traits) and BPD. Despite some controversial results and lack of homogeneity in the methods used for the diagnostic assessment, the reviewed literature highlighted how subjects with BPD reported higher scores on tests evaluating the presence of AT compared to a non-clinical population and hypothesized the presence of unrecognized ASD in some BPD patients or vice versa, while also describing a shared vulnerability towards traumatic events, and a greater risk of suicidality in BPD subjects with high autistic traits. However, the specific measure and nature of this association remain to be explored in more depth.

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13. Feichtinger RG, Preisel M, Brugger K, Wortmann SB, Mayr JA. Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes. 2023; 14(6).

BACKGROUND: Heterozygous, large-scale deletions at 14q24.3-31.1 affecting the neurexin-3 gene have been associated with neurodevelopmental disorders such as autism. Both « de novo » occurrences and inheritance from a healthy parent suggest incomplete penetrance and expressivity, especially in autism spectrum disorder. NRXN3 encodes neurexin-3, a neuronal cell surface protein involved in cell recognition and adhesion, as well as mediating intracellular signaling. NRXN3 is expressed in two distinct isoforms (alpha and beta) generated by alternative promoters and splicing. MM/Results: Using exome sequencing, we identified a monoallelic frameshift variant c.159_160del (p.Gln54AlafsTer50) in the NRXN3 beta isoform (NM_001272020.2) in a 5-year-old girl with developmental delay, autism spectrum disorder, and behavioral issues. This variant was inherited from her mother, who did not have any medical complaints. DISCUSSION: This is the first detailed report of a loss-of-function variant in NRXN3 causing an identical phenotype, as reported for heterozygous large-scale deletions in the same genomic region, thereby confirming NRXN3 as a novel gene for neurodevelopmental disorders with autism.

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14. Gandhi T, Canepa CR, Adeyelu TT, Adeniyi PA, Lee CC. Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder. Brain sciences. 2023; 13(6).

Autism spectrum disorder (ASD) is associated with neurodevelopmental alterations, including atypical forebrain cellular organization. Mutations in several ASD-related genes often result in cerebral cortical anomalies, such as the abnormal developmental migration of excitatory pyramidal cells and the malformation of inhibitory neuronal circuitry. Notably here, mutations in the CNTNAP2 gene result in ectopic superficial cortical neurons stalled in lower cortical layers and alterations to the balance of cortical excitation and inhibition. However, the broader circuit-level implications of these findings have not been previously investigated. Therefore, we assessed whether ectopic cortical neurons in CNTNAP2 mutant mice form aberrant connections with higher-order thalamic nuclei, potentially accounting for some autistic behaviors, such as repetitive and hyperactive behaviors. Furthermore, we assessed whether the development of parvalbumin-positive (PV) cortical interneurons and their specialized matrix support structures, called perineuronal nets (PNNs), were altered in these mutant mice. We found alterations in both ectopic neuronal connectivity and in the development of PNNs, PV neurons and PNNs enwrapping PV neurons in various sensory cortical regions and at different postnatal ages in the CNTNAP2 mutant mice, which likely lead to some of the cortical excitation/inhibition (E/I) imbalance associated with ASD. These findings suggest neuroanatomical alterations in cortical regions that underlie the emergence of ASD-related behaviors in this mouse model of the disorder.

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15. Godler DE, Brown WT. Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023. Genes. 2023; 14(6).

Fragile X syndrome (FXS) is the leading single-gene cause of inherited intellectual disability and autism […].

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16. Gonzalez JN, Goldman S, Carter MT, Bain JM. Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. Genes. 2023; 14(6).

Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along with hand stereotypies, gait abnormalities, and loss of acquired speech. Atypical RTT is diagnosed when a child shows some but not all the phenotypes of classic RTT, along with additional supporting criteria. Over 95% of classic RTT cases are attributed to pathogenic variants in Methyl-CpG Binding Protein 2 (MECP2), though additional genes have been implicated in other RTT cases, particularly those with the atypical RTT clinical picture. Other genetic etiologies have emerged with similar clinical characteristics to RTT Syndrome. Our team has characterized HNRNPH2-related neurodevelopmental disorder (HNRNPH2-RNDD) in 33 individuals associated with de novo pathogenic missense variants in the X-linked HNRNPH2 gene, characterized by developmental delay, intellectual disability, seizures, autistic-like features, and motor abnormalities. We sought to further characterize RTT clinical features in this group of individuals by using caregiver report. Twenty-six caregivers completed electronic surveys, with only 3 individuals having previously received an atypical RTT diagnosis, and no individuals with a typical RTT diagnosis. Caregivers reported a high number of behaviors and/or phenotypes consistent with RTT, including the major criteria of the syndrome, such as regression of developmental skills and abnormal gait. Based on the survey results, 12 individuals could meet the diagnostic clinical criteria for atypical RTT Syndrome. In summary, individuals with HNRNPH2-RNDD exhibit clinical characteristics that overlap with those of RTT, and therefore, HNRNPH2-RNDD, should be considered on the differential diagnosis list with this clinical picture.

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17. Green G, Lang R, Schlinger HD, Travers J. Autism: don’t negate the value of applied behaviour analysis. Nature. 2023; 618(7967): 907.

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18. Gupta N, Gupta M, Gandhi R. Buspirone in Autism Spectrum Disorder: A Systematic Review. Cureus. 2023; 15(5): e39304.

The aim of this systematic review is to appraise the current evidence on the efficacy and safety of buspirone in core symptoms of autism spectrum disorder (ASD), co-occurring anxiety, and other associated symptoms. Major medical literature databases were searched for randomized controlled trials (RCTs), open-label trials, and any other relevant studies or clinical trials reporting on pediatric (age < 18 years) patients with ASD treated with buspirone for any reason. A total of 310 abstracts were screened, and six clinical trials were selected for inclusion. Out of these six clinical trials, two were RCTs (n =166 and 40), two open-label trials (n= 26 and 4), and one cross-over study (n = 1). We also included one retrospective chart review (n=31). Meta-analysis was not performed due to a lack of homogeneity in the two RCTs. Although most of the studies reported improved overall symptoms, they had different outcome measures. The quality of evidence available is low, and there is a need for higher-power studies in the future. Most studies suggested that buspirone was well tolerated and safe in pediatric patients with ASD. Based on the data, there is insufficient evidence to make conclusive recommendations on buspirone for improvement in core symptoms of ASD or cooccurring anxiety, irritability, or hyperactivity symptoms in the pediatric population. Given there are limited approved therapies for co-occurring anxiety, buspirone could be used as a safe off-label option due to the lack of behavioral activation and any serious adverse reactions.

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19. Hill J, Driscoll C, Cawdell-Smith J, Anderson S, Ziviani J. Investigating Dog Welfare When Interacting with Autistic Children within Canine-Assisted Occupational Therapy Sessions: A Single Case Study. Animals : an open access journal from MDPI. 2023; 13(12).

Human-animal bond is defined as the mutually beneficial relationship between humans and animals. Recent years have seen increasing research regarding the benefits of interaction with animals for autistic children. However, there continue to be limited studies exploring the impact of this interaction on the welfare of therapy dogs. As part of a pilot randomised control trial assessing the efficacy of canine-assisted occupational therapy with autistic children, this project assessed welfare markers of the therapy dog involved. A total of twenty-one saliva samples were taken from the therapy dog to assess cortisol, alpha amylase, and oxytocin concentrations at home and throughout the treatment days. Additionally, six hours of therapy session videos were analysed for stress indicators of canine behaviour. No significant differences were found between days spent at home and treatment days for any of the biomarkers or stress indicators. Results suggest that the therapy dog involved did not experience increased stress resulting from interaction with the autistic children throughout the therapy sessions. This study supports the need for further research regarding therapy dog welfare when interacting with autistic children including an increased sample size of therapy dogs and therapists.

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20. Horsnell J, Mangar S, Dimitriou D, Halstead EJ. Parental Experiences of Melatonin Administration to Manage Sleep Disturbances in Autistic Children and Adolescent in the UK. Healthcare (Basel, Switzerland). 2023; 11(12).

BACKGROUND: Autistic children and adolescents are 40-80% more likely to experience sleep disturbances than their neurotypical peers. In the United Kingdom, melatonin is licensed for short-term usage in adults at age 55 years and above; however, it is often prescribed to autistic children and adolescents to help manage their sleep. The current study sought to understand parental experiences and their motivation of using melatonin to manage sleep disturbances of their autistic children. METHODS: The sample included 26 parents who took part in online focus groups answering questions regarding their experiences of using melatonin as a sleep treatment for their children diagnosed with autism between 4 and 18 years old. RESULTS: Four main themes were identified: (i) parental perception of melatonin used as ‘a naturally produced hormone’; (ii) perceived benefits of using melatonin to improve their child’s sleep; (iii) administration of melatonin: dosage amount, timing and pulverising; and (iv) expectation and apprehension over melatonin use. CONCLUSION: Some parents reported success with the use of melatonin, and others reported the effects being limited or diminishing in time. Suggestions for healthcare professionals and families regarding melatonin usage in the UK are made with respect to setting clear guidelines for usage, whilst ensuring expectations are set and managed appropriately.

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21. Inchingolo AM, Patano A, Piras F, Mancini A, Inchingolo AD, Paduanelli G, Inchingolo F, Palermo A, Dipalma G, Malcangi G. Interconnection between Microbiota-Gut-Brain Axis and Autism Spectrum Disorder Comparing Therapeutic Options: A Scoping Review. Microorganisms. 2023; 11(6).

BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental illnesses characterized by difficulty in social communication, social interaction, and repetitive behaviors. These clinical diagnostic criteria can be seen in children as early as one year old and are commonly associated with long-term difficulties. ASD is connected with a higher frequency of various medical diseases such as gastrointestinal complaints, seizures, anxiety, interrupted sleep, and immunological dysfunction, in addition to the range of developmental abnormalities listed. METHODS: From 1 January 2013 to 28 February 2023, we searched PubMed, Scopus and Web of Science for English-language papers that matched our topic. The following Boolean keywords were utilized in the search approach: « autism » AND « microbiota ». After deleting duplicates, a total of 2370 publications were found from the databases, yielding 1222 articles. (1148). Nine hundred and eighty-eight items were excluded after their titles and abstracts were scrutinized. The method resulted in the removal of 174 items for being off-topic. The final 18 articles for qualitative analysis are included in the evaluation. CONCLUSION: The findings of this extensive study revealed that probiotics, prebiotics, their combination as synbiotics, fecal microbiota transplantation, and microbiota transfer therapy may benefit ASD patients suffering from both gastrointestinal and central nervous system symptoms.

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22. Jacinto M, Rodrigues F, Monteiro D, Antunes R, Ferreira JP, Matos R, Campos MJ. Quality of Life in Individuals with Intellectual and Developmental Disabilities: The Congruency Effect between Reports. Healthcare (Basel, Switzerland). 2023; 11(12).

Assessing quality of life (QoL) is important to provide personalized and individualized support plans with the purpose of improving personal outcomes. Based on the conceptual model of QoL, the aim of this study was to assess the congruence between the perceptions of institutionalized individuals with intellectual and developmental disabilities (IDD) and the perception of a third party, regarding QoL. Forty-two individuals participated in this study, including twenty-one with mild to severe IDD and their family members/caregiver/reference technician, who responded to the Personal Outcomes Scale (Portuguese version). Significant differences (p < 0.05) were found between reports in the personal development (t = -2.26; p = 0.024), emotional well-being (t = -2.263; p = 0.024), physical well-being (t = -2.491; p = 0.013) and total QoL (t = -2.331; p = 0.02). The results further show that most third-party reports tend to undervalue the QoL of the individual with IDD, and that there is no congruence in any of the QoL domains. The inclusion of self-reports in the QoL assessment is important. In addition to the assessment of third-party reports, the process of making decisions appropriate to the context and individual characteristics is equally important. On the other hand, the inclusion of third-party reports is an opportunity to promote communication among all stakeholders, recognize and discuss differences, and promote QoL, not only of individuals with IDD, but also of families.

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23. Ji C, Tang Y, Zhang Y, Huang X, Li C, Yang Y, Wu Q, Xia X, Cai Q, Qi XR, Zheng JC. Glutaminase 1 deficiency confined in forebrain neurons causes autism spectrum disorder-like behaviors. Cell reports. 2023; 42(7): 112712.

An abnormal glutamate signaling pathway has been proposed in the mechanisms of autism spectrum disorder (ASD). However, less is known about the involvement of alterations of glutaminase 1 (GLS1) in the pathophysiology of ASD. We show that the transcript level of GLS1 is significantly decreased in the postmortem frontal cortex and peripheral blood of ASD subjects. Mice lacking Gls1 in CamKIIα-positive neurons display a series of ASD-like behaviors, synaptic excitatory and inhibitory (E/I) imbalance, higher spine density, and glutamate receptor expression in the prefrontal cortex, as well as a compromised expression pattern of genes involved in synapse pruning and less engulfed synaptic puncta in microglia. A low dose of lipopolysaccharide treatment restores microglial synapse pruning, corrects synaptic neurotransmission, and rescues behavioral deficits in these mice. In summary, these findings provide mechanistic insights into Gls1 loss in ASD symptoms and identify Gls1 as a target for the treatment of ASD.

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24. Ji YQ, Tian H, Zheng ZY, Ye ZY, Ye Q. Effectiveness of exercise intervention on improving fundamental motor skills in children with autism spectrum disorder: a systematic review and meta-analysis. Frontiers in psychiatry. 2023; 14: 1132074.

BACKGROUND: Autism spectrum disorder (ASD) is a severe public health concern, and most of the children with ASD experience a substantial delay in FMS. This study aimed to investigate the effectiveness of exercise interventions in improving FMS in children with ASD, and provide evidence to support the scientific use of exercise interventions in practice. METHODS: We searched seven online databases (PubMed, Scopus, Web of Science, Embase, EBSCO, Clinical Trials, and The Cochrane Library) from inception to May 20, 2022. We included randomized control trials of exercise interventions for FMS in children with ASD. The methodological quality of the included studies was assessed using the Physiotherapy Evidence Database Scale. Stata 14.0 software was used for meta-analysis, forest plotting, subgroup analysis, heterogeneity analysis, and meta-regression. RESULTS: Thirteen studies underwent systematic review (541 participants), of which 10 underwent meta-analysis (297 participants). Overall, exercise interventions significantly improved overall FMS in children with ASD. Regarding the three categories of FMS, exercise interventions significantly improved LMS (SMD = 1.07; 95% CI 0.73 to 1.41, p < 0.001), OCS (SMD = 0.79; 95% CI 0.32 to 1.26, p = 0.001), and SS (SMD = 0.72; 95% CI 0.45 to 0.98, p < 0.0001). CONCLUSION: exercise interventions can effectively improve the FMS of children with ASD. The effects on LMS are considered as large effect sizes, while the effects on OCS and SS are considered as moderate effect sizes. These findings can inform clinical practice. SYSTEMATIC REVIEW REGISTRATION: https://inplasy.com/inplasy-2022-12-0013/.

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25. Kawa R. Object Play and Autism Spectrum Disorders Symptoms in Toddlers Aged 12-37 Month at Risk of Developmental Disorders. Children (Basel, Switzerland). 2023; 10(6).

Various studies have shown a relationship between the development of language and object play in children. Children with Autism spectrum disorder (ASD) show difficulties in both of these areas of functioning. But the knowledge about the relationships between the severity of ASD symptoms and object play in children at risk of developmental disorders remains limited. To explore these relationships, 44 children aged 13-37 months took part in this study. Object play and ASD symptoms were assessed in two age groups (13-18 months and 24-37 months). The results show that ASD symptom intensity is related to object play complexity in children at risk of developmental disorders. However, these relationships are different depending on the age of the children.

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26. Kim HG. Editorial for the IJMS Special Issue on « Molecular Genetics of Autism and Intellectual Disability ». International journal of molecular sciences. 2023; 24(12).

Autism spectrum disorder (ASD), a neurodevelopmental illness that affects children at an early age with a global prevalence of 1%, is diagnosed based on clinical features such as social impairment, repetitive behaviors, and restricted interests […].

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27. Lau BK, Emmons KA, Lee AKC, Munson J, Dager SR, Estes AM. The prevalence and developmental course of auditory processing differences in autistic children. Autism research : official journal of the International Society for Autism Research. 2023.

Auditory processing differences, including hyper- or hyposensitivity to sound, aversions to sound, and difficulty listening under noisy, real-world conditions, are commonly reported in autistic individuals. However, the developmental course and functional impact of these auditory processing differences are unclear. In this study, we investigate the prevalence, developmental trajectory, and functional impact of auditory processing differences in autistic children throughout childhood using a longitudinal study design. Auditory processing differences were measured using the Short Sensory Profile, a caregiver questionnaire, in addition to adaptive behaviors and disruptive/concerning behaviors at 3, 6, and 9 years of age. Our results showed that auditory processing differences were reported in greater than 70% of the autistic children in our sample at all three timepoints, maintained a high prevalence through 9 years of age, and were associated with increased disruptive/concerning behaviors and difficulty with adaptive behaviors. Furthermore, in our sample of children, auditory processing differences at age 3 years predicted disruptive/concerning behaviors and difficulty with adaptive behaviors at age 9 years. These findings warrant further investigations of the potential benefit of incorporating measures of auditory processing during routine clinical evaluations as well as interventions targeting auditory processing differences in autistic children.

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28. Li L, Wang A, Fang Q, Moosbrugger ME. Physical Activity Interventions for Improving Cognitive Functions in Children With Autism Spectrum Disorder: Protocol for a Network Meta-Analysis of Randomized Controlled Trials. JMIR research protocols. 2023; 12: e40383.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects millions of children worldwide, with a current prevalence of approximately 1 in 54 children in the United States. Although the precise mechanisms underlying ASD remain unclear, research has shown that early intervention can have a significant impact on cognitive development and outcomes in children with ASD. Physical activity interventions have emerged as a promising intervention for children with ASD, but the efficacy of different types of interventions remains unclear. OBJECTIVE: This study protocol aims to update the knowledge on extant literature and explore the efficacy of physical activity intervention strategies on cognitive functions in children with ASD. METHODS: A systematic review and network meta-analysis (NMA) will be conducted following the PRISMA-NMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols for Network Meta-Analyses) statement. A total of 9 bibliographic databases (APA PsycInfo, CENTRAL, Dimensions, ERIC, MEDLINE Complete, PubMed, Scopus, SPORTDiscus, and Web of Science) will be systematically searched to screen eligible articles based on a series of inclusion and exclusion criteria. A study will be considered for inclusion if it is not classified as a systematic review with or without meta-analysis, was published from inception to present, includes children aged 0 to 12 years with ASD, quantitively measures cognitive outcomes, and examines treatment comprising at least 1 physical activity intervention strategy. The internal validity and quality of evidence will be evaluated using the Grading of Recommendations Assessment, Development, and Evaluation framework. Statistical analyses will be performed in the RStudio software (version 3.6; RStudio Inc) with the BUGSnet package and the Comprehensive Meta-Analysis software (version 3.3; Biostat Inc). The results of our NMA will be illustrated through network diagrams accompanied by geometry and league tables. Further, to rank the interventions based on their efficacy, we will use the surface under the cumulative ranking curve. RESULTS: Our preliminary search identified 3778 potentially relevant studies. The screening of the studies based on the inclusion and exclusion criteria is ongoing, and we anticipate that the final number of eligible studies will be in the range of 30 to 50. CONCLUSIONS: This study will provide a comprehensive review of the literature on physical activity interventions for children with ASD and will use NMA to compare the efficacy of different types of interventions on cognitive outcomes. Our findings will have important implications for clinical practice and future research in this area and will contribute to the growing body of evidence supporting the use of physical activity interventions as a key component of early intervention for children with ASD. TRIAL REGISTRATION: PROSPERO CRD42021279054; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=279054. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/40383.

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29. Lin F, Wang X, Luo R, Yuan B, Ye S, Yang T, Xiao L, Chen J. Maternal LPS Exposure Enhances the 5-HT Level in the Prefrontal Cortex of Autism-like Young Offspring. Brain sciences. 2023; 13(6).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by reduced social interactions, impaired communication, and stereotyped behavior. The aim of this research is to investigate the changes in serotonin (5-HT) in the medial prefrontal cortex (PFC) of autism-like offspring induced by maternal lipopolysaccharide (LPS) exposure. Pregnant Sprague-Dawley rats were intraperitoneally injected with LPS to establish an autism-like model in their offspring. Offspring prenatally exposed to LPS showed autism-like behavior. The serotonin level in the mPFC of 2-week-old offspring was noticeably increased after maternal LPS exposure. Differentially expressed genes (DEGs) were enriched in pathways related to tryptophan metabolism and the serotonin system, as shown in RNA-seq findings. Consistently, tryptophan and serotonin metabolisms were altered in 2-week-old LPS-exposed offspring. The mRNA expression levels of 5-HT catabolic enzymes were remarkably reduced or tended to decrease. Moreover, maternal LPS exposure resulted in a higher serotonin 1B receptor (5-HT(1B)R) expression level in the mPFC but no difference in tryptophan hydroxylase 2 (TPH2) or serotonin reuptake transporter (SERT). The concentrations of 5-HT in serum and colon were increased in LPS-exposed offspring. Meanwhile, the expression level of tryptophan hydroxylase 1 (TPH1) in the colon was increased after maternal LPS treatment, whereas SERT was reduced. Furthermore, Golgi-Cox staining showed that neuronal dendritic length and spine density were significantly reduced in the mPFC of LPS-exposed offspring. The current study reveals that maternal LPS treatment resulted in an exaltation of the 5-HT of mPFC in ASD-like young rats, which may partly be caused by the abnormal elevation of 5-HT metabolism in its colon.

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30. Malow BA, Qian Y, Ames JL, Alexeeff S, Croen LA. Health conditions in autism: Defining the trajectory from adolescence to early adulthood. Autism research : official journal of the International Society for Autism Research. 2023.

Autistic adults, as compared to non-autistic adults, have increased rates of nearly all medical and psychiatric conditions. Many of these conditions begin in childhood, although few longitudinal studies have been conducted to examine prevalence rates of these conditions from adolescence into early adulthood. In this study, we analyze the longitudinal trajectory of health conditions in autistic youth, compared to age and sex-matched non-autistic youth, transitioning from adolescence into early adulthood in a large integrated health care delivery system. The percent and modeled prevalence of common medical and psychiatric conditions increased from age 14 to 22 years, with autistic youth having a higher prevalence of most conditions than non-autistic youth. The most prevalent conditions in autistic youth at all ages were obesity, neurological disorders, anxiety, and ADHD. The prevalence of obesity and dyslipidemia rose at a faster rate in autistic youth compared to non-autistic youth. By age 22, autistic females showed a higher prevalence of all medical and psychiatric conditions compared to autistic males. Our findings emphasize the importance of screening for medical and psychiatric conditions in autistic youth, coupled with health education targeted at this population, to mitigate the development of adverse health outcomes in autistic adults.

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31. Mannion A, Leader G. Relationship between child sleep problems in autism spectrum disorder and parent mental health and well-being. Sleep medicine. 2023; 109: 4-10.

Sleep problems are a common comorbidity in children and adolescents with autism spectrum disorder (ASD). The aim of this study is to determine how sleep problems affect not only the child with ASD, but parents also. Parents of 409 children and adolescents with ASD completed the Children’s Sleep Habits Questionnaire, Pittsburgh Sleep Quality Index, Parenting Stress Index-Short Form, World Health Organization Quality of Life Abbreviated Version (WHOQOL-BREF), Hospital Anxiety and Depression Scale, and the Multidimensional Scale of Perceived Social Support. The majority (86.6%) of parents presented with poor sleep. The majority (95.3%; n = 387) of children presented with sleep problems, while 4.7% (n = 22) did not have sleep problems. A cross-sectional within-subjects research design was utilised, with the following analyses conducted: Pearson correlations, chi-square tests, t-tests, and MANOVAs. Relationships were found between child sleep problems and parent sleep problems, specifically child parasomnias, sleep duration, night wakings, and sleep onset delay. Parents of children with sleep problems experienced more parenting stress, specifically on the Difficult Child and Parent-Child Dysfunctional Interaction subscales of the Parenting Stress Index-Short Form. Parents of children and adolescents with sleep problems had significantly higher levels of anxiety and depression than parents of children and adolescents who did not have sleep problems. A relationship between sleep problems and lower quality of life was found. Parents of children with sleep problems received significantly lower scores on the WHOQOL-BREF domains of Physical Health, Psychological and Environment than parents of children without sleep problems. There was no significant difference found between parents of children with or without sleep problems on perceived social support. The current study demonstrated how child sleep affects parental well-being. While sleep problems are one comorbid condition in ASD, future research is needed to determine the impact of other comorbidities in parents of children and adolescents with ASD.

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32. Metwally AM, Helmy MA, Salah El-Din EM, Saleh RM, Abdel Raouf ER, Abdallah AM, Khadr Z, Elsaied A, El-Saied MM, Bassiouni RI, Nagi DA, Shehata MA, El-Alameey IR, El-Hariri HM, Salama SI, Rabah TM, Abdel-Latif GA, El Etreby LA, Elmosalami DM, Sami SM, Eltahlawy E, Ibrahim NA, Elghareeb NA, Badawy HY, Dewdar EM, Ashaat EA. National screening for Egyptian children aged 1 year up to 12 years at high risk of Autism and its determinants: a step for determining what ASD surveillance needs. BMC psychiatry. 2023; 23(1): 471.

This study aimed to provide a national estimate of the prevalence of the high risk of autism spectrum disorder (ASD) and their determinants. A national screening survey was conducted for 41,640 Egyptian children aged 1 to 12 years in two phases. Tools used were Vineland’s Adaptive Behavior Scales, Modified Checklist for Autism in Toddlers, Gilliam Autism Rating scale, and Denver II Developmental screening test. The overall prevalence of children at high risk of ASD was 3.3% (95% CI:3.1%-3.5%). Children living without mothers in homes, suffered from convulsions (AOR = 3.67; 95%CI:2.8-4.8), a history of cyanosis after birth (AOR = 1.87; 95% CI:1.35-2.59) or history of LBW babies (AOR = 1.53; 95% CI:1.23-1.89) carried higher odds of being at high risk of ASD.

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33. Olszowy M, Nowak-Perlak M, Woźniak M. Current Strategies in Photodynamic Therapy (PDT) and Photodynamic Diagnostics (PDD) and the Future Potential of Nanotechnology in Cancer Treatment. Pharmaceutics. 2023; 15(6).

Photodynamic diagnostics (PDD) and photodynamic therapy (PDT) are well-established medical technologies used for the diagnosis and treatment of malignant neoplasms. They rely on the use of photosensitizers, light and oxygen to visualize or eliminate cancer cells. This review demonstrates the recent advancements in these modalities with the use of nanotechnology, including quantum dots as innovative photosensitizers or energy donors, liposomes and micelles. Additionally, this literature review explores the combination of PDT with radiotherapy, chemotherapy, immunotherapy, and surgery for treating various neoplasms. The article also focuses on the latest achievements in PDD and PDT enhancements, which seem to be very promising in the field of oncology.

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34. Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry I, Tenorio-Castano J, Lapunzina P. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes. 2023; 14(6).

SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual developmental disorder, autosomal dominant 70 (MRD70), and Rabin-Pappas syndrome (RAPAS). LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spectrum disorder (ASD), macrocephaly, tall stature, and motor delay. RAPAS [MIM #6201551] is a recently reported multisystemic disorder characterized by severely impaired global and intellectual development, hypotonia, feeding difficulties with failure to thrive, microcephaly, and dysmorphic facial features. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and potentially endocrine. Three patients who carried the missense variant p.Arg1740Gln in SETD2 were reported with a moderately impaired intellectual disability, speech difficulties, and behavioral abnormalities. More variable findings included hypotonia and dysmorphic features. Due to the differences with the two previous phenotypes, this association was then named intellectual developmental disorder, autosomal dominant 70 [MIM 620157]. These three disorders seem to be allelic and are caused either by loss-of-function, gain-of-function, or missense variants in the SETD2 gene. Here we describe 18 new patients with variants in SETD2, most of them with the LLS phenotype, and reviewed 33 additional patients with variants in SETD2 that have been previously reported in the scientific literature. This article offers an expansion of the number of reported individuals with LLS and highlights the clinical features and the similarities and differences among the three phenotypes associated with SETD2.

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35. Pasciuto F, Cava A, Falzone A. The Potential Use of Sex Robots in Adults with Autistic Spectrum Disorders: A Theoretical Framework. Brain sciences. 2023; 13(6).

Although the importance of the sexual sphere for the health of all human beings has been recognized at an international level, often this is underestimated when it comes to disabilities and even more to intellectual disabilities. In fact, the idea that subjects with intellectual disabilities are not aware of their bodies and of their wishes in the sexual and emotional field is still widespread in our society, in such a way that they are considered as children in need of constant supervision. Moreover, further hints of criticism that can be raised are about the poor level of sexual education that is dedicated to these subjects, both by family members and by therapists. The last decades have been characterized by a considerable growth in the technological sector and many new instruments have been successfully used in the field of healthcare of weak or disabled subjects. A particularly fruitful branch has been robotics which, in subjects with autistic spectrum disorders (ASD), has revealed itself as an excellent support to stimulate communication and develop social skills. As in recent years the field of robotics has also been characterized by a strong interest in the sphere of sexuality, building and implementing what we now define as sex robots or sexbots, it could be interesting to start a debate on the potential that these new generation artificial agents could have in the field of care of subjects with ASD. These robots, possessing a technology based on stimulating verbal and nonverbal interaction, could be useful for an education that is not only sexual but also psycho-emotional in subjects with ASD.

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36. Pukki H. Autism research: GATFAR coordinator responds. Nature. 2023; 618(7967): 907.

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37. Scaffei E, Mazziotti R, Conti E, Costanzo V, Calderoni S, Stoccoro A, Carmassi C, Tancredi R, Baroncelli L, Battini R. A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers. Brain sciences. 2023; 13(6).

Autism spectrum disorder (ASD) refers to a neurodevelopmental condition whose detection still remains challenging in young females due to the heterogeneity of the behavioral phenotype and the capacity of camouflage. The availability of quantitative biomarkers to assess brain function may support in the assessment of ASD. Functional Near-infrared Spectroscopy (fNIRS) is a non-invasive and flexible tool that quantifies cortical hemodynamic responses (HDR) that can be easily employed to describe brain activity. Since the study of the visual phenotype is a paradigmatic model to evaluate cerebral processing in many neurodevelopmental conditions, we hypothesized that visually-evoked HDR (vHDR) might represent a potential biomarker in ASD females. We performed a case-control study comparing vHDR in a cohort of high-functioning preschooler females with ASD (fASD) and sex/age matched peers. We demonstrated the feasibility of visual fNIRS measurements in fASD, and the possibility to discriminate between fASD and typical subjects using different signal features, such as the amplitude and lateralization of vHDR. Moreover, the level of response lateralization was correlated to the severity of autistic traits. These results corroborate the cruciality of sensory symptoms in ASD, paving the way for the validation of the fNIRS analytical tool for diagnosis and treatment outcome monitoring in the ASD population.

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38. Schiltz H, Sterrett K, Singer H, Lord C. Anxiety, depression, and well-being in autistic adults and adults with other developmental disabilities: A longitudinal cross-lagged analysis. Autism research : official journal of the International Society for Autism Research. 2023.

Autistic people and people with other developmental disabilities (DD) are at high likelihood for anxiety and depression, which can negatively affect adult life. Therefore, this study sought to understand temporal links between anxiety and depression over time in autistic adults and adults with DDs, and how these conditions impact specific aspects of positive well-being. A sample of 130 adults with autism or other DDs and their caregivers were drawn from a longitudinal study. Participants complete measures of anxiety (Adult Manifest Anxiety Scale), depression (Beck Depression Inventory, 2nd Edition), and well-being (Scales of Psychological Well-Being). Cross-lagged panel analyses revealed significant autoregressive effects for anxiety and depressive symptoms over time, based on both caregiver and self-report (all p < 0.01). Additionally, although findings differed across reporter, cross-lagged links between anxiety and depression emerged over time. Based on caregiver-report, anxiety symptoms predicted later depressive symptoms (p = 0.002) but depressive symptoms did not predict later anxiety (p = 0.10); the opposite pattern was identified for self-report. Aspects of positive well-being (purpose in life, self-acceptance, personal growth) demonstrated differential links with anxiety and depression (p = 0.001-0.53). These findings highlight the utility of a transdiagnostic approach to mental health services for autistic adults and adults with DDs, and the need to monitor for anxious or depressive symptoms in autistic adults and adults with DDs presenting with depression or anxiety, respectively.

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39. Spirito G, Filosi M, Domenici E, Mangoni D, Gustincich S, Sanges R. Exploratory analysis of L1 retrotransposons expression in autism. Molecular autism. 2023; 14(1): 22.

BACKGROUND: Autism spectrum disorder (ASD) is a set of highly heterogeneous neurodevelopmental diseases whose genetic etiology is not completely understood. Several investigations have relied on transcriptome analysis from peripheral tissues to dissect ASD into homogenous molecular phenotypes. Recently, analysis of changes in gene expression from postmortem brain tissues has identified sets of genes that are involved in pathways previously associated with ASD etiology. In addition to protein-coding transcripts, the human transcriptome is composed by a large set of non-coding RNAs and transposable elements (TEs). Advancements in sequencing technologies have proven that TEs can be transcribed in a regulated fashion, and their dysregulation might have a role in brain diseases. METHODS: We exploited published datasets comprising RNA-seq data from (1) postmortem brain of ASD subjects, (2) in vitro cell cultures where ten different ASD-relevant genes were knocked out and (3) blood of discordant siblings. We measured the expression levels of evolutionarily young full-length transposable L1 elements and characterized the genomic location of deregulated L1s assessing their potential impact on the transcription of ASD-relevant genes. We analyzed every sample independently, avoiding to pool together the disease subjects to unmask the heterogeneity of the molecular phenotypes. RESULTS: We detected a strong upregulation of intronic full-length L1s in a subset of postmortem brain samples and in in vitro differentiated neurons from iPSC knocked out for ATRX. L1 upregulation correlated with an high number of deregulated genes and retained introns. In the anterior cingulate cortex of one subject, a small number of significantly upregulated L1s overlapped with ASD-relevant genes that were significantly downregulated, suggesting the possible existence of a negative effect of L1 transcription on host transcripts. LIMITATIONS: Our analyses must be considered exploratory and will need to be validated in bigger cohorts. The main limitation is given by the small sample size and by the lack of replicates for postmortem brain samples. Measuring the transcription of locus-specific TEs is complicated by the repetitive nature of their sequence, which reduces the accuracy in mapping sequencing reads to the correct genomic locus. CONCLUSIONS: L1 upregulation in ASD appears to be limited to a subset of subjects that are also characterized by a general deregulation of the expression of canonical genes and an increase in intron retention. In some samples from the anterior cingulate cortex, L1s upregulation seems to directly impair the expression of some ASD-relevant genes by a still unknown mechanism. L1s upregulation may therefore identify a group of ASD subjects with common molecular features and helps stratifying individuals for novel strategies of therapeutic intervention.

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40. Squiers L, Lynch MM, Holt SL, Rivell A, Walker K, Robison S, Mitchell EW, Flores AL. Building Evidence for Principles to Guide the Development of Products for Adults with Intellectual and Developmental Disabilities and Extreme Low Literacy-A Product Development Tool. Healthcare (Basel, Switzerland). 2023; 11(12).

This article presented a new product development tool for adults with intellectual and developmental disabilities (IDD) developed by the Centers for Disease Control and Prevention (CDC). People with IDD who also have extreme low literacy (ELL) have unique communication needs; public health communicators often face challenges developing effective communication materials for this audience. To support CDC communication specialists with the development of communication products for adults with IDD/ELL, CDC, with its partners RTI International and CommunicateHealth, created a product development tool for this audience through literature review, expert input, and interviews with adults with IDD/ELL and caregivers of adults with IDD/ELL. To build evidence around the principles described in the tool, RTI conducted interviewer-administered surveys with 100 caregivers who support people with IDD/ELL. During the interviews, we presented caregivers with stimuli (portions of a communication product) that either did or did not apply a single principle and asked which would be easier for the person they support to understand. Across all 14 principles tested, the caregiver respondents indicated that the principle-based version would be easier for the person they support to understand compared with the non-principle-based version(s). These findings provide additional evidence to support the principles included in CDC’s Tool for Developing Products for People with IDD/ELL.

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41. Stankova M, Kamenski T, Ivanov I, Mihova P. Emotional and Behavioral Problems of Children with ASD-The Lessons That We Learned from the Pandemic. Children (Basel, Switzerland). 2023; 10(6).

The data available for changes in the behavior and emotional state of children with ASD (autism spectrum disorder) in lockdown situations are controversial and scarce. In our research, we compare results before the first COVID-19 lockdown of 21 children with ASD and 21 typically developing children, four to five years of age with those obtained immediately after. The study attempts to answer the question of whether there are changes in the levels of emotional and behavioral problems in children with ASD after the lockdown and how these new living conditions affect some aspects of their functioning. The instruments used for data analysis are the Childhood Autism Spectrum Test (CAST); Child Behavior Checklist (CBCL); Survey on the consequences of COVID-19 on the life and development of the participants. No significant differences in the emotional and behavioral state of the participants were found, except for attention deficit/hyperactivity problems where ASD children showed lower levels after the lockdown. ASD group parents’ answers to the survey pointed towards more positive consequences of staying at home. Some reported they had more time for learning together, communicating, playing, and assisting the learning process through online therapy. As negatives, the parents of ASD children reported low physical activity, increased time with electronic devices, and time spent with the same people. Caregivers of typically developing children agreed that the lockdown had only negative effects. To conclude, for children with ASD in the study, the lockdown period demonstrated that more time spent with parents in structured everyday activities is an opportunity that can lead to positive results in their behavior.

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42. Su WC, Culotta M, Mueller J, Tsuzuki D, Bhat A. fNIRS-Based Differences in Cortical Activation during Tool Use, Pantomimed Actions, and Meaningless Actions between Children with and without Autism Spectrum Disorder (ASD). Brain sciences. 2023; 13(6).

Children with autism spectrum disorder (ASD) have difficulties with tool use and pantomime actions. The current study utilized functional near-infrared spectroscopy (fNIRS) to examine the neural mechanisms underlying these gestural difficulties. Thirty-one children with and without ASD (age (mean ± SE) = 11.0 ± 0.6) completed a naturalistic peg-hammering task using an actual hammer (hammer condition), pantomiming hammering actions (pantomime condition), and performing meaningless actions with similar joint motions (meaningless condition). Children with ASD exhibited poor praxis performance (praxis error: TD = 17.9 ± 1.7; ASD = 27.0 ± 2.6, p < 0.01), which was significantly correlated with their cortical activation (R = 0.257 to 0.543). Both groups showed left-lateralized activation, but children with ASD demonstrated more bilateral activation during all gestural conditions. Compared to typically developing children, children with ASD showed hyperactivation of the inferior parietal lobe and hypoactivation of the middle/inferior frontal and middle/superior temporal regions. Our findings indicate intact technical reasoning (typical left-IPL activation) but atypical visuospatial and proprioceptive processing (hyperactivation of the right IPL) during tool use in children with ASD. These results have important implications for clinicians and researchers, who should focus on facilitating/reducing the burden of visuospatial and proprioceptive processing in children with ASD. Additionally, fNIRS-related biomarkers could be used for early identification through early object play/tool use and to examine neural effects following gesture-based interventions.

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43. Thorsteinsdottir S, Bjarnason R, Eliasdottir HG, Olafsdottir AS. Body Composition in Fussy-Eating Children, with and without Neurodevelopmental Disorders, and Their Parents, Following a Taste Education Intervention. Nutrients. 2023; 15(12).

Fussy eaters may have an increased risk of becoming overweight or obese as adolescents, with fussy eating and weight status also correlating with neurodevelopmental disorders (NDs) such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Further, maternal and children’s weight status relationships are well-established. In this study, we analyzed the body composition of parent-child dyads using bioelectrical impedance analysis (BIA). Fifty-one children aged 8-12 years, with an ND (n = 18) and without (n = 33), and their parents, participated in a 7-week food-based Taste Education intervention with 6-month follow-up. The paired t-test was used to compare differences in body composition based on children’s ND status. In logistic regression analysis, odds of children being in the overweight/obese or overfat/obese categories increased by a factor of 9.1 and 10.6, respectively, when having NDs, adjusting for parents’ BMI (body mass index) or fat percentage (FAT%). Children with NDs and their parents had significantly higher mean BMI-SDS (BMI standard deviation score) and FAT% at pre-intervention than children without NDs and their parents. Mean BMI-SDS and FAT% lowered significantly between time points for children with NDs and their parents but not for children without NDs or their parents. The findings underline the need for additional exploration into the relationships between children’s and parents’ body composition based on children’s ND status.

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44. White SW, Siegle GJ, Kana R, Rothman EF. Pathways to Psychopathology Among Autistic Adults. Current psychiatry reports. 2023.

PURPOSE OF REVIEW: Autistic adults frequently require treatment of mental health problems. Increased rates of suicidality and diminished quality of life among autistic people may be partially attributable to psychiatric symptoms. Some risk factors for mental health problems in autistic people are likely the same as risk factors present in neurotypical individuals, but unique factors that are specific to neurodivergent individuals, and some even more specific to autistic people, may exist. Understanding pathways from autism to mental health problems could inform intervention efforts at the individual and societal levels. RECENT FINDINGS: We review a growing body of research identifying risk processes across the affective, cognitive, and social domains. Consistent with the principle of equifinality, different processes appear to independently and jointly lead to heightened risk for the onset of mental health problems. Autistic adults frequently utilize mental healthcare services, and experience heightened risk for chronic impairment as a result of mental health problems. Understanding causal and developmental risk processes in autism should inform personalized treatment. We synthesize extant research on these processes and offer suggestions for addressing them therapeutically and societally.

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45. Yankovitz BE, Kasirer A, Mashal N. The Relationship between Semantic Joke and Idiom Comprehension in Adolescents with Autism Spectrum Disorder. Brain sciences. 2023; 13(6).

Semantic jokes involve resolving an incongruity emerging from wordplay or from a violation of world knowledge. The research has shown individuals with autism spectrum disorder (ASD) demonstrate a lower performance on humor tasks involving social situations; however, less is known about their semantic joke comprehension. This study examines semantic joke comprehension among adolescents with ASD and its possible relationship to vocabulary size, theory of mind (ToM), and idiom comprehension. Thirty-two adolescents with ASD and 32 typically developed (TD) peers participated. Semantic joke comprehension was assessed via a multiple-choice questionnaire and time-limited computer program. Vocabulary, ToM abilities, and idiom comprehension were also tested. The results reveal that adolescents with ASD are as fast in processing semantic jokes as their age- and vocabulary-matched TD peers, but less accurate. Age and idiom comprehension significantly contributed to semantic joke comprehension among both groups. As semantic joke comprehension is based on incongruity resolution, the greater difficulties in comprehension among the adolescents with ASD may have been due to deficits in simultaneously retaining two alternative interpretations and selecting the relevant one (and not due reduced ToM abilities). Similar to the TD group, semantic joke comprehension among the ASD group appeared to be more developed with age.

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46. Zhang YH, Wang T, Li YF, Deng YN, He XL, Wang LJ. N-acetylcysteine improves autism-like behavior by recovering autophagic deficiency and decreasing Notch-1/Hes-1 pathway activity. Experimental biology and medicine (Maywood, NJ). 2023: 15353702231179924.

N-acetylcysteine (NAC) has been reported to improve social interaction behavior, irritability, self-injury, and anxiety-like behavior in autism. However, the molecular mechanism underlying the therapeutic roles of NAC in autism remains unknown. This study mainly aimed to investigate the therapeutic effect of NAC on valproic acid (VPA)-induced autism model and the underlying mechanisms. Our results showed that NAC ameliorated the deficits in sociability and the anxiety- and repetitive-like behaviors displayed by VPA-exposed rats. In addition, VPA exposure induced autophagic deficiency and enhanced Notch-1/Hes-1 pathway activity based on lowered Beclin-1 and LC3B levels, while increased expression of p62, Notch-1, and Hes-1 expression at the protein level. However, NAC recovered VPA-induced autophagic deficiency and reduced Notch-1/Hes-1 pathway activity in a VPA-exposed autism rat model and SH-SY5Y neural cells. The present results demonstrated that NAC improves autism-like behavioral abnormalities by inactivating Notch-1/Hes-1 signaling pathway and recovering autophagic deficiency. Taken together, this study helps to elucidate a novel molecular mechanism that underlies the therapeutic actions of NAC in autism and suggests its potential to ameliorate behavioral abnormalities in neurodevelopmental disorders.

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