1. Almeida MN, Alper DP, Long AS, Barrero C, Williams MC, Boroumand S, Glahn J, Shah J, Swanson J, Alperovich M. Risk of ADHD, Autism Spectrum Disorder, and Executive Function Impairment in Metopic Craniosynostosis. Plast Reconstr Surg;2023 (Dec 19)

INTRODUCTION: Favorable behavioral interactions are critical for academic and interpersonal success. An association between metopic synostosis and behavioral impairments has not been fully elucidated. Behavioral dysfunction in school age children with surgically corrected metopic synostosis was evaluated using targeted testing to detect the most common behavioral abnormalities in this population. METHODS: Parents of children 6-18 years old with metopic synostosis completed the Conners Short 3 rd edition (Conners-3: ADHD), Social Responsiveness Scale 2 nd edition (SRS-2: autism spectrum disorder), Behavior Rating Inventory of Executive Function 2 nd edition (BRIEF-2: executive functioning), and Child’s Behavioral Checklist (CBCL: behavioral/emotional functioning). Children also completed neurocognitive testing. Multivariable regression was used to determine predictors of clinically significant behavioral impairments. RESULTS: 60 children were enrolled. Average age at surgery was 9.2 ± 7.9 months, with an average age at assessment of 10.3 ± 3.5 years. Nearly half of patients demonstrated symptoms associated with ADHD, demonstrated by reaching or exceeding borderline clinical levels for inattention and hyperactivity subscales of the Conners-3. Greater age at surgery was associated with worse executive function, measured by reaching or exceeding clinically significant levels of the executive function subscale of the Conners-3 (p=0.04) and subscales of the BRIEF-2 (behavioral regulator index [p=0.05], cognitive regulatory index [p=0.03], and global executive composite [p=0.04]). CONCLUSIONS: Nearly half of patients with surgically corrected metopic synostosis reached borderline clinical scores for inattention and hyperactivity. Greater age at surgery was associated with worse executive function. Prompt surgical correction of metopic synostosis may portend improved long-term emotional and behavioral function.

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2. Alonzo-Castillo T, Lugo-Marín J, Robles M, Rossich R, Gallego L, González M, Setién-Ramos I, Martínez-Ramírez M, Ramos-Quiroga JA, Gisbert-Gustemps L. [Autism spectrum disorder: the impact of an online training strategy on the knowledge of the healthcare staff of a tertiary care hospital]. Rev Neurol;2024 (Jan 1);78(1):1-7.

INTRODUCTION: Autism spectrum disorder (ASD) often presents related medical disorders that require specialised healthcare. Professionals in the health sector therefore face difficulties that require specific training in the healthcare needs of this population. AIM: The aim of this study is to quantify paediatric healthcare professionals’ knowledge about ASD and to assess the impact of online training. SUBJECTS AND METHODS: It is a quasi-experimental, longitudinal, prospective before-and-after study; study subjects: health professionals; independent variable: online training in ASD; dependent variable: knowledge about ASD. An online training course was held for paediatric professionals to address the core characteristics of diagnosis, as well as the needs they present in the hospital context and the adaptations it is recommended that should be carried out. Fifty-eight healthcare professionals took part. RESULTS: An increase in knowledge about ASD was observed at the end of the intervention (from 73.9% to 85% according to the ASD background knowledge questionnaire), which showed that more than 90% of the participants had the highest level of knowledge about ASD. CONCLUSIONS: Online training courses are a useful and effective way to increase knowledge about ASD and the adaptations that are recommended in the hospital setting. More training in ASD should be made available in these settings.

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3. Bemmouna D, Lagzouli A, Weiner L. The biosocial correlates and predictors of emotion dysregulation in autistic adults compared to borderline personality disorder and nonclinical controls. Mol Autism;2023 (Dec 18);14(1):47.

BACKGROUND: Emotion dysregulation (ED) is a core symptom of borderline personality disorder (BPD), whose aetiology has been attributed to biosocial factors. In autism spectrum condition (ASC), although ED is prevalent and is associated with decreased well-being (e.g. self-harm, suicidality), it has been understudied, especially in adults. It is therefore crucial to further understand ED in autistic adults to improve its treatment. Our study investigates ED, its behavioural correlates (e.g. self-harm, suicidality) and biosocial predictors in autistic adults relative to BPD and nonclinical controls (NC). METHODS: A total of 724 participants (ASC = 154; BPD = 111; NC = 459) completed 11 self-reported questionnaires assessing ED, ASC and BPD traits, co-occurring disorders, alexithymia, emotional vulnerability and invalidating experiences (e.g. bullying, autistic camouflaging). The occurrence of ED behavioural correlates (i.e. self-harm, history of suicide attempts, and psychiatric hospitalizations) was collected. In addition, between-groups analyses, linear regressions and machine learning (ML) models were used to identify ED predictors in each group. RESULTS: ED and its behavioural correlates were higher in ASC compared to NC, but milder than in BPD. While gender did not predict ED scores, autistic women had increased risk factors to ED, including sexual abuse and camouflaging. Interestingly, BPD traits, emotional vulnerability and alexithymia strongly predicted ED scores across the groups. Using ML models, sensory sensitivity and autistic camouflaging were associated with ED in ASC, and ADHD symptoms with ED in BPD. LIMITATIONS: ASC and BPD diagnoses were self-reported, which did not allow us to check their accuracy. Additionally, we did not explore the transactional and the moderating/mediating relationships between the different variables. Moreover, our research is cross-sectional and cannot draw conclusions regarding the direction and causality of relationships between ED and other clinical dimensions. CONCLUSIONS: ED and its behavioural correlates are heightened in BPD compared to ASC and nonclinical controls. In the ASC group, there were no gender differences in ED, despite the heightened exposure of autistic women to ED risk factors. BPD traits, emotional vulnerability, and alexithymia are core to ED regardless of diagnosis. Although less central, sensory sensitivity and autistic camouflaging seem to be specific predictors of ED in autistic adults.

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4. Carmel J, Ghanayem N, Mayouf R, Saleev N, Chaterjee I, Getselter D, Tikhonov E, Turjeman S, Shaalan M, Khateeb S, Kuzminsky A, Kvetniy-Ferdman N, Kronos T, Bretler-Zager T, Koren O, Elliott E. Bacteroides is increased in an autism cohort and induces autism-relevant behavioral changes in mice in a sex-dependent manner. NPJ Biofilms Microbiomes;2023 (Dec 18);9(1):103.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition which is defined by decreased social communication and the presence of repetitive or stereotypic behaviors. Recent evidence has suggested that the gut-brain axis may be important in neurodevelopment in general and may play a role in ASD in particular. Here, we present a study of the gut microbiome in 96 individuals diagnosed with ASD in Israel, compared to 42 neurotypical individuals. We determined differences in alpha and beta diversity in the microbiome of individuals with ASD and demonstrated that the phylum Bacteroidetes and genus Bacteroides were the most significantly over-represented in individuals with ASD. To understand the possible functional significance of these changes, we treated newborn mice with Bacteroides fragilis at birth. B. fragilis-treated male mice displayed social behavior dysfunction, increased repetitive behaviors, and gene expression dysregulation in the prefrontal cortex, while female mice did not display behavioral deficits. These findings suggest that overabundance of Bacteroides, particularly in early life, may have functional consequences for individuals with ASD.

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5. Garic D, McKinstry RC, Rutsohn J, Slomowitz R, Wolff J, MacIntyre LC, Weisenfeld LAH, Kim SH, Pandey J, St John T, Estes AM, Schultz RT, Hazlett HC, Dager SR, Botteron KN, Styner M, Piven J, Shen MD. Enlarged Perivascular Spaces in Infancy and Autism Diagnosis, Cerebrospinal Fluid Volume, and Later Sleep Problems. JAMA Netw Open;2023 (Dec 1);6(12):e2348341.

IMPORTANCE: Perivascular spaces (PVS) and cerebrospinal fluid (CSF) are essential components of the glymphatic system, regulating brain homeostasis and clearing neural waste throughout the lifespan. Enlarged PVS have been implicated in neurological disorders and sleep problems in adults, and excessive CSF volume has been reported in infants who develop autism. Enlarged PVS have not been sufficiently studied longitudinally in infancy or in relation to autism outcomes or CSF volume. OBJECTIVE: To examine whether enlarged PVS are more prevalent in infants who develop autism compared with controls and whether they are associated with trajectories of extra-axial CSF volume (EA-CSF) and sleep problems in later childhood. DESIGN, SETTING, AND PARTICIPANTS: This prospective, longitudinal cohort study used data from the Infant Brain Imaging Study. Magnetic resonance images were acquired at ages 6, 12, and 24 months (2007-2017), with sleep questionnaires performed between ages 7 and 12 years (starting in 2018). Data were collected at 4 sites in North Carolina, Missouri, Pennsylvania, and Washington. Data were analyzed from March 2021 through August 2022. EXPOSURE: PVS (ie, fluid-filled channels that surround blood vessels in the brain) that are enlarged (ie, visible on magnetic resonance imaging). MAIN OUTCOMES AND MEASURES: Outcomes of interest were enlarged PVS and EA-CSF volume from 6 to 24 months, autism diagnosis at 24 months, sleep problems between ages 7 and 12 years. RESULTS: A total of 311 infants (197 [63.3%] male) were included: 47 infants at high familial likelihood for autism (ie, having an older sibling with autism) who were diagnosed with autism at age 24 months, 180 high likelihood infants not diagnosed with autism, and 84 low likelihood control infants not diagnosed with autism. Sleep measures at school-age were available for 109 participants. Of infants who developed autism, 21 (44.7%) had enlarged PVS at 24 months compared with 48 infants (26.7%) in the high likelihood but no autism diagnosis group (P = .02) and 22 infants in the control group (26.2%) (P = .03). Across all groups, enlarged PVS at 24 months was associated with greater EA-CSF volume from ages 6 to 24 months (β = 4.64; 95% CI, 0.58-8.72; P = .002) and more frequent night wakings at school-age (F = 7.76; η2 = 0.08; P = .006). CONCLUSIONS AND RELEVANCE: These findings suggest that enlarged PVS emerged between ages 12 and 24 months in infants who developed autism. These results add to a growing body of evidence that, along with excessive CSF volume and sleep dysfunction, the glymphatic system could be dysregulated in infants who develop autism.

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6. Khougar A, Baba Ahmadi P, Ranjbar H, Ahadi M, Ahadi P. Exploring the varied manifestations of structural violence in the lives of children on the autism spectrum and their families: a qualitative longitudinal study in Kurdistan, Iran. Int J Equity Health;2023 (Dec 18);22(1):263.

BACKGROUND: There are many dimensions regarding autism that are closely connected to social structures, policies, and power dynamics, silently impacting the well-being of individuals within the autism spectrum. This research aims to explore these overlooked aspects using a theoretical framework called « structural violence. » METHODS: The study was conducted in Kurdistan, Iran, and a qualitative longitudinal approach was chosen. A purposive sampling method was employed to select the participants, with 11 parents taking part. The study data comprised 29 interviews using a topic guide conducted over a span of 2 years. Thematic analysis and a matrix-based approach were utilized for data analysis. To enhance the scientific rigor of this research, four criteria, including Guba and Lincoln’s principles, were implemented to ensure methodological accuracy. RESULTS: The research findings highlight four primary forms through which structural violence impacts children on the autism spectrum and their families: access to healthcare, geographic disparities, awareness and stigma, and poverty and financial burden. Additionally, the study identified 11 subthemes related to structural violence in the context of autism and families. CONCLUSIONS: We illustrated how structural forces create barriers to accessing adequate healthcare services, exacerbate discrimination based on ethnicity and geography, perpetuate stigma, and contribute to poverty and the inability to meet basic needs. These factors not only worsen health issues but also deepen existing disparities in healthcare access and outcomes for children on the autism spectrum and families. We emphasize the urgent need for systemic changes to address these issues. It is essential to promote public awareness, provide better access to health and support services, and address economic and political factors that contribute to these inequalities.

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7. Özdemir H, Ayran G, Topuz Ç. Psychometric properties of the Turkish version of the parental competence scale for parents of children with autism. J Pediatr Nurs;2023 (Dec 18);74:122-128.

BACKGROUND: Parental competence is an important concept in increasing the quality of care provided to individuals with special needs and the quality of life of parents. This study was aimed to evaluate the psychometric properties of the Turkish version of the Parental Competence Scale designed for parents of children with autism spectrum disorders. METHOD: This methodological study was conducted with 433 parents of children with autism between November 2021 and February 2023. Information Form, the Parental Competence Scale for Parents of Children with Autism, and the Parental Self-Efficacy Scale were used to collect the data. The data were assessed using content and construct validity, item analysis, confirmatory factor analysis, and internal consistency. Guidelines for reporting reliability and agreement studies (GRRAS) were adhered to in the study. FINDINGS: The content validity index of the scale was 0.93. Item-total score correlation values ranged from 0.338 to 0.846. As a result of confirmatory factor analysis, the two-factor structure of the scale consisting of 19 items was confirmed. Factor loads were >0.30 and fit indices were >0.80. The Cronbach’s alpha coefficient of the Turkish version of the scale was 0.85, and the Cronbach’s alpha values of its sub-dimensions were 0.71 and 0.79. CONCLUSION: The parental competence scale for parents of children with autism is a valid and reliable measurement tool for Turkey. PRACTICE IMPLICATIONS: Pediatric nurses, all health professionals, special education professionals and teachers can use this scale in interventional studies aiming to evaluate or improve the competencies of parents with autistic children in the future.

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8. Pasqui A, Cicaloni V, Tinti L, Guiotto A, Tinti C, Mori A, Bruttini M, Hayek J, Pecorelli A, Salvini L, Valacchi G. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. Arch Biochem Biophys;2023 (Dec 16):109860.

Mutations in the X-linked methyl-CpG-binding 2 (MECP2) gene lead to Rett Syndrome (RTT; OMIM 312750), a devasting neurodevelopmental disorder. RTT clinical manifestations are complex and with different degrees of severity, going from autistic-like behavior to loss of acquired speech, motor skills and cardiac problems. Furthermore, the correlation between the type of MECP2 mutation and the clinical phenotype is still not fully understood. Contextually, different genotypes can differently affect the patient’s phenotype and omics methodologies such as proteomics could be an important tool for a molecular characterization of genotype/phenotype correlation. The aim of our study was focused on evaluating RTT oxidative stress (OS) responses related to specific MECP2 gene mutations by using proteomics and bioinformatics approaches. Primary fibroblasts isolated from patients affected by R133C and R255× mutations were compared to healthy controls (HC). After clustering primary dermal fibroblasts based on their specific MECP2 mutations, fibroblast-derived protein samples were qualitative and quantitative analyzed, using a label free quantification (LFQ) analysis by mass spectrometry (MS), achieving a preliminary correlation for RTT genotype/phenotype. Among the identified proteins involved in redox regulation pathways, NAD(P)H:quinone acceptor oxidoreductase 1 (NQO1) was found to be absent in R255× cells, while it was present in R133C and in HC fibroblasts. Moreover, NQO1 aberrant gene regulation was also confirmed when cells were challenged with 100 μM hydrogen peroxide (H(2)O(2)). In conclusion, by employing a multidisciplinary approach encompassing proteomics and bioinformatics analyses, as well as molecular biology assays, the study uncovered phenotypic responses linked to specific MECP2 gene mutations. These findings contribute to a better understanding of the complexity of RTT molecular pathways, confirming the high heterogeneity among the patients.

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9. Rast JE, Tao S, Schott W, Shea LL, Brodkin ES, Kerns CM, Leonard CE, Murray MJ, Lee BK. Psychotropic Medication Use in Children and Youth with Autism Enrolled in Medicaid. J Autism Dev Disord;2023 (Dec 18)

Children with autism frequently present with complex mental health diagnoses and psychotropic medications are often a component of comprehensive biopsychosocial treatment plans for these conditions. The purpose of this study is to provide rates and patterns of psychotropic medication use, and predictors thereof, in children and youth with autism enrolled in Medicaid across the US. This study examined national Medicaid claims from 2008 to 2016 of all children and youth with autism ages 0-21 years enrolled in Medicaid. Psychotropic medication use was examined across several child and youth characteristics, including age, co-occurring mental health conditions, sex, and race and ethnicity. About half of children and youth with autism enrolled in Medicaid had at least one psychotropic prescription in a year, a number that decreased slightly across the study period due to decreases in the prescription of antipsychotics. As new medications for autism or co-occurring conditions are developed and deployed, and as the understanding of the characteristics of the population of children with autism evolves, studying rates of medication usage helps to understand utilization patterns and differences in access to quality care.

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10. Reisi-Vanani V, Lorigooini Z, Bijad E, Amini-Khoei H. Maternal separation stress through triggering of the neuro-immune response in the hippocampus induces autistic-like behaviors in male mice. Int J Dev Neurosci;2023 (Dec 18)

Autism spectrum disorder (ASD) is the fastest-growing neurodevelopmental disease throughout the world. Neuro-immune responses from prenatal to adulthood stages of life induce developmental defects in synaptic signaling, neurotransmitter imbalance, and even structural changes in the brain. In this study, we aimed to focus on the possible role of neuroinflammatory response in the hippocampus in development of the autistic-like behaviors following maternal separation (MS) stress in mice. To do this, mice neonates daily separated from their mothers from postnatal day (PND) 2 to PND 14 for 3 h. During PND45-60, behavioral tests related to autistic-like behaviors including three-chamber sociability, Morris water maze (MWM), shuttle box, resident-intruder, and marble burying tests were performed. Then, hippocampi were dissected out, and the gene expression of inflammatory mediators including TNF-α, IL-1β, TLR4, HMGB1, and NLRP3 was assessed in the hippocampus using RT-PCR. Results showed that MS mice exerted impaired sociability preference, repetitive behaviors, impaired passive avoidance, and spatial memories. The gene expression of inflammatory mediators significantly increased in the hippocampi of MS mice. We concluded that MS stress probably via activating of the HMGB1/TLR4 signaling cascade in the hippocampus induced autistic-like behaviors in mice.

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