1. Al-Beltagi M. Pre-autism: What a paediatrician should know about early diagnosis of autism‎. World J Clin Pediatr;2023 (Dec 9);12(5):273-294.

Autism, also known as an autism spectrum disorder, is a complex neurodevelopmental disorder usually diagnosed in the first three years of a child’s life. A range of symptoms characterizes it and can be diagnosed at any age, including adolescence and adulthood. However, early diagnosis is crucial for effective management, prognosis, and care. Unfortunately, there are no established fetal, prenatal, or newborn screening programs for autism, making early detection difficult. This review aims to shed light on the early detection of autism prenatally, natally, and early in life, during a stage we call as « pre-autism » when typical symptoms are not yet apparent. Some fetal, neonatal, and infant biomarkers may predict an increased risk of autism in the coming baby. By developing a biomarker array, we can create an objective diagnostic tool to diagnose and rank the severity of autism for each patient. These biomarkers could be genetic, immunological, hormonal, metabolic, amino acids, acute phase reactants, neonatal brainstem function biophysical activity, behavioral profile, body measurements, or radiological markers. However, every biomarker has its accuracy and limitations. Several factors can make early detection of autism a real challenge. To improve early detection, we need to overcome various challenges, such as raising community awareness of early signs of autism, improving access to diagnostic tools, reducing the stigma attached to the diagnosis of autism, and addressing various culturally sensitive concepts related to the disorder.

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2. Boley G, Pierri J, Finegold D, Pan L. Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency. BMJ Case Rep;2024 (Jan 4);17(1)

The authors describe a female in her late twenties, presenting with catatonia and diagnosed with epilepsy, autism spectrum disorder, mild intellectual disability, psychosis, dysthymia, anxiety and bipolar disorder, receiving weekly electroconvulsive therapy (ECT). After testing, findings indicated an interstitial deletion in the 22q13.33 region associated with Phelan-McDermid syndrome. In addition, the patient had low cerebral spinal fluid tetrahydrobiopterin (BH(4)) levels, suggesting dysfunction in the pterin biosynthetic pathway. As a result, the patient started on sapropterin, a BH(4) replacement small molecule. After sapropterin treatment, catatonia improved, and the need for ECT decreased. There was an improvement in her cognitive ability, attention and independence. However, there has been no improvement in seizure frequency.

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3. Bonin M, Augustine L, Meng Q. Beyond Silence: A Scoping Review of Provided Support for Grieving Children With Intellectual Disabilities or Autism Spectrum Disorder. Omega (Westport);2024 (Jan 4):302228231226343.

Children with intellectual disabilities (ID) or autism spectrum disorder (ASD) are considered unable to grieve or understand the concept of death and might not receive grief support after the death of a beloved person; hence, they are at risk of developing complicated grief. This scoping review identified existing grief support for children with ID or ASD. Searching seven databases yielded 514 records; six studies met the predefined inclusion criteria. The six studies identified grief support, including discussions, participation in death rituals, family support, stories, and professional interventions. The support could be organized into three levels, micro, meso, and exo, overlooking the macro level completely, indicating that grief support for these children tends to be irregular and inconsistent.

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4. Curran C, Roberts R, Gannoni A, Jeyaseelan D. Training and Educational Pathways for Clinicians (Post-graduation) for the Assessment and Diagnosis of Autism Spectrum Disorders: A Scoping Review. J Autism Dev Disord;2024 (Jan 4)

This review aimed to identify the post-graduation training pathways available for both clinicians and trainers in the assessment and diagnosis of Autism Spectrum Disorder (ASD). The study was guided by two research questions: What is known about ASD-specific educational, training, or other pathways available to support clinicians of any discipline, post-graduation, to meet the required expertise relevant to assessments of ASD concerns? What is known about the educational pathways available to clinicians seeking to provide training to other clinicians, post-graduation, in the assessment of ASD concerns? A scoping review was undertaken with searches completed across five databases (PubMed, PsycINFO, PsycEXTRA, ERIC and CINAHL). A Google search strategy was also executed using the « advanced » search function. Eligible records were literature, written in English, that examined post-graduation training and/ or education of clinicians to assess and/ or diagnose ASD. Fourteen relevant records were identified. Post-graduate training has the potential to enhance clinician confidence and service provision in ASD assessment and diagnosis. System-wide training approaches show promise in building large-scale, diagnostic capacity and the use of tele-mentoring offers a cost-effective, convenient mode of training delivery. A lack of evidence to support ASD diagnostic training pathways was found and may pose a challenge for clinicians and service users. The limited evidence found suggests that high quality research will be fundamental in determining how to build clinician capacity in ASD assessment and diagnosis and to ascertain whether training pathways are a necessary component.

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

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6. Garvanska DH, Alvarado RE, Mundt FO, Lindqvist R, Duel JK, Coscia F, Nilsson E, Lokugamage K, Johnson BA, Plante JA, Morris DR, Vu MN, Estes LK, McLeland AM, Walker J, Crocquet-Valdes PA, Mendez BL, Plante KS, Walker DH, Weisser MB, Överby AK, Mann M, Menachery VD, Nilsson J. The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions. EMBO Rep;2024 (Jan 2)

Viruses interact with numerous host factors to facilitate viral replication and to dampen antiviral defense mechanisms. We currently have a limited mechanistic understanding of how SARS-CoV-2 binds host factors and the functional role of these interactions. Here, we uncover a novel interaction between the viral NSP3 protein and the fragile X mental retardation proteins (FMRPs: FMR1, FXR1-2). SARS-CoV-2 NSP3 mutant viruses preventing FMRP binding have attenuated replication in vitro and reduced levels of viral antigen in lungs during the early stages of infection. We show that a unique peptide motif in NSP3 binds directly to the two central KH domains of FMRPs and that this interaction is disrupted by the I304N mutation found in a patient with fragile X syndrome. NSP3 binding to FMRPs disrupts their interaction with the stress granule component UBAP2L through direct competition with a peptide motif in UBAP2L to prevent FMRP incorporation into stress granules. Collectively, our results provide novel insight into how SARS-CoV-2 hijacks host cell proteins and provides molecular insight into the possible underlying molecular defects in fragile X syndrome.

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7. Harrop C, Tomaszewski B, Putnam O, Klein C, Lamarche E, Klinger L. Are the diagnostic rates of autistic females increasing? An examination of state-wide trends. J Child Psychol Psychiatry;2024 (Jan 5)

BACKGROUND: Autism has been considered a ‘male-dominant’ condition. However, recent research suggests that autistic females are underdiagnosed, misdiagnosed, and later diagnosed. Females may also have different and more nuanced behavioral profiles. To examine diagnosis rates of females, we used 20 years of state-wide data to characterize historical trends in the diagnosis of autism in females to determine whether the proportion of females diagnosed with autism has changed over time. METHODS: Data were drawn from 10,247 participants (males = 8,319, females = 1928) who received an autism diagnosis between 2000 and 2021 from state-wide autism centers associated with the University of North Carolina TEACCH Autism Program. RESULTS: The rates of females diagnosed with autism increased at a greater rate compared with males. Age of diagnosis remained consistently higher for females. Late diagnosis (defined as 13+) increased over time across both males and females, however, was more commonly associated with females, particularly those with co-occurring intellectual disability. CONCLUSIONS: Our results indicate that the proportion of females diagnosed with autism has increased steadily over a 20-year period, which likely reflects greater societal knowledge of how autism may manifest differentially in females.

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8. Kara MZ, Örüm MH, Karadağ AS, Kalenderoğlu A, Kara A. Reduction in Retinal Ganglion Cell Layer, Inner Plexiform Layer, and Choroidal Thickness in Children With Autism Spectrum Disorder. Cureus;2023 (Dec);15(12):e49981.

PURPOSES: The aim of this study was to evaluate the retinal nerve fiber layer (RNFL), choroidal layer, inner plexiform layer (IPL), and ganglion cell layer (GCL) in patients with autism spectrum disorder (ASD). METHODS: In this study, we measured the thickness of the RNFL, GCL, IPL, and choroidal thickness using a spectral optical coherence tomography (OCT) device and we compared the results between the children diagnosed with ASD and healthy controls. Correlation between the Childhood Autism Rating Scale (CARS) and the OCT data was evaluated. RESULTS: Both ASD and control group consisted of 40 subjects (30 males and 10 females). Of the children in the ASD group, 29 had normal intelligence and 11 had mild intellectual disability (MID). The mean age of patients in the ASD group and control groups were 9.77 ± 3.37 years and 9.85 ± 3.97 years (p = 0.928). There was a statistically significant difference between the ASD group and the control group in the nasal and nasal-superior sectors of the RNFL layers in the left eye when all the lower layers of RNFL were assessed. In both eyes, the children with ASD had considerably lower mean choroidal thicknesses than the controls. When compared to the controls, the GCL and IPL volumes in the individuals with ASD were considerably lower in both eyes. Compared to the MID group, the left GCL volume of the nasal-inferior group was noticeably higher. A significant correlation was found between CARS scores and left GCL left IPL. CONCLUSIONS: In contrast to RNFL in the ASD group, significant reductions in IPL, GCL, and choroidal thickness were observed in both eyes. It is thought that GCL may be a much more important biomarker than RNFL in terms of representing the structural deterioration in the brain. In addition, these results may form the basis for a new perspective on the use of OCT for the diagnosis and clinical course of autism.

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9. Kim Y, Jang Y, Lee S, Chu K. Autism-Like Presentation of Possible Autoimmune Encephalitis With Complete Recovery After Immunotherapy. J Clin Neurol;2024 (Jan);20(1):97-99.

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10. Martin M, Braillon A. Sperm epigenetic mechanisms in autism spectrum disorders. The valproate case illustrates an enduring and systemic failure. Mol Psychiatry;2024 (Jan 5)

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11. McFayden TC, Bristol S, Putnam O, Harrop C. ChatGPT: Artificial Intelligence as a Potential Tool for Parents Seeking Information About Autism. Cyberpsychol Behav Soc Netw;2024 (Jan 5)

Autism Spectrum Disorder has seen a drastic increase in prevalence over the past two decades, along with discourse rife with debates and misinformation. This discourse has primarily taken place online, the main source of information for parents seeking information about autism. One potential tool for navigating information is ChatGPT-4, an artificial intelligence question and answer-style communication program. Although ChatGPT shows great promise, no empirical work has evaluated its viability as a tool for providing information about autism to caregivers. The current study evaluated answers provided by ChatGPT, including basic information about autism, myths/misconceptions, and resources. Our results suggested that ChatGPT was largely correct, concise, and clear, but did not provide much actionable advice, which was further limited by inaccurate references and hyperlinks. The authors conclude that ChatGPT-4 is a viable tool for parents seeking accurate information about autism, with opportunities for improvement in actionability and reference accuracy.

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12. Mello M, Fusaro M, Aglioti SM, Minio-Paluello I. Exploring social touch in autistic and non-autistic adults via a self-report body-painting task: The role of sex, social context and body area. Autism;2024 (Jan 5):13623613231218314.

What is already known about the topic?At least in neurotypical individuals, social touch represents an important channel for emotional communication associated with social bonding and pain/anxiety modulation. Autistic adults report to avoid social touch more and to have different tactile sensitivity than their non-autistic comparisons.What this paper adds?Few studies specifically investigated social touch in autistic individuals, and none of them examined the role of participants’ sex, social context in which social touch occurs, and specific body areas being touched. In our study, adult participants reported how pleasant, erogenous and appropriate they would consider touches delivered by another person over their entire body in intimate (date), friendly (dance class) and professional (physiotherapy-massage session) social contexts. Autistic adults reported social touch to be less pleasant, erogenous and appropriate specifically in intimate and friendly social contexts and in body areas typically touched in these situations. Importantly, autistic females seem more at risk to experience unpleasant social touch as, although they considered it more unpleasant than non-autistic females and autistic males, they did consider it similarly appropriate in professional social contexts where touch is normed to be socially appropriate.Implications for practice, research or policyOur results might improve awareness and understanding about autistic adults’ different, and often more discomforting, experience of social touch and thus help consider and respect it during everyday social interactions. Our results might also benefit future research investigating, for instance, the neural underpinnings of social touch differences in autism or aiming at developing support for autistic individuals seeking help in the diverse spheres of social touch.

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13. Mention B, Pourre F, Andanson J. Humor in autism spectrum disorders: A systematic review. Encephale;2024 (Jan 3)

OBJECTIVES: Humor is essential to social relationships. Its use and understanding appear to be impaired in people with Autism Spectrum Disorder (ASD). The main objective was to review the existing literature on the detection, understanding and use of humor in persons with ASD. The secondary objective involved exploring assessment scales and specific intervention tools. METHODS: A systematic review of the literature was carried out on all available French and English scientific papers about humor – including irony – in persons with ASD up to November 2021. We extracted 552 references and included 43 articles from six databases. RESULTS: Studies suggest that those with ASD can detect audiovisual and written humor. Understanding humor was impaired in writing and when using pure auditory stimuli and non-verbal cartoons. For irony, the results indicated a lower detection of quality and less understanding in speaking but not in writing. Regarding its use, in terms of expression, people with ASD use benevolent humor less often and do not consider humor as a key source of satisfaction with life, as opposed to the control group. CONCLUSIONS: It appears that it would be worthwhile to develop standardized humor detection and assessment tools specific to persons with ASD. Practical strategies that focus on humor ability could be worth developing, either individually or in groups.

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14. Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. BMC Psychiatry;2024 (Jan 4);24(1):23.

BACKGROUND: Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder. Quality of life is often impaired due to irritability, aggression and self-injurious behavior, generally refractory to standard therapies. There are indications from previous (case) studies and patient reporting that cannabidiol (CBD) may be an effective treatment for severe behavioral manifestations in RGNDs. However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III), and Fragile X syndrome (FXS), using an innovative trial design. METHODS: We aim to conduct placebo-controlled, double-blind, block-randomized, multiple crossover N-of-1 studies with oral CBD (twice daily) in 30 patients (aged ≥ 6 years) with confirmed TSC, MPS III or FXS and severe behavioral manifestations. The treatment is oral CBD up to a maximum of 25 mg/kg/day, twice daily. The primary outcome measure is the subscale irritability of the Aberrant Behavior Checklist. Secondary outcome measures include (personalized) patient-reported outcome measures with regard to behavioral and psychiatric outcomes, disease-specific outcome measures, parental stress, seizure frequency, and adverse effects of CBD. Questionnaires will be completed and study medication will be taken at the participants’ natural setting. Individual treatment effects will be determined based on summary statistics. A mixed model analysis will be applied for analyzing the effectiveness of the intervention per disorder and across disorders combining data from the individual N-of-1 trials. DISCUSSION: These N-of-1 trials address an unmet medical need and will provide information on the effectiveness of CBD for severe behavioral manifestations in RGNDs, potentially generating generalizable knowledge at an individual-, disorder- and RGND population level. TRIAL REGISTRATION: EudraCT: 2021-003250-23, registered 25 August 2022, https://www.clinicaltrialsregister.eu/ctr-search/trial/2021-003250-23/NL .

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15. Oshima F, Takahashi T, Tamura M, Guan S, Seto M, Hull L, Mandy W, Tsuchiya K, Shimizu E. The association between social camouflage and mental health among autistic people in Japan and the UK: a cross-cultural study. Mol Autism;2024 (Jan 4);15(1):1.

BACKGROUND: To examine the relationship between social camouflage and mental health in Japanese autistic adults and make an international comparison with a sample from the UK. METHODS: This study analysed secondary data of participants with a self-reported diagnosis of autism from Japan (N = 210; 123 men and 87 women) and the UK (N = 305; 181 women, 104, men, and 18 nonbinary). The relationships between the quadratic term of the Camouflaging Autistic Traits Questionnaire and mental health scales, including depression and anxiety, were assessed. RESULTS: The UK sample showed linear relationships, whereas the Japanese sample showed significant nonlinear relationships. The quadratic terms of the Camouflaging Autistic Traits Questionnaire slightly explained generalised anxiety (β = .168, p = .007), depression (β = .121, p = .045), and well-being (β = - .127, p = .028). However, they did not explain the association between social anxiety and the Camouflaging Autistic Traits Questionnaire. LIMITATIONS: Participants had self-reported diagnoses, and while the autism-spectrum quotient provides a cut-off value for screening, it does not enable confirming diagnoses. Mean scores of the Japanese version of the Camouflaging Autistic Traits Questionnaire were lower as compared to the original CAT-Q, which implies that the social camouflage strategy types used by autistic people in Japan and the UK could differ. The cross-sectional design limits causal inferences. CONCLUSION: In the UK, more social camouflage was associated with poorer mental health scores, whereas too little or too much social camouflage was associated with a low mental health score in Japan. The Japanese population is seemingly less aware of and educated on autistic characteristics and considers ‘average’ behaviour a good thing. This could influence Japanese autistic people’s social camouflage use, differing from that of autistic people in the UK. The differences in the relationship between social camouflage and mental health between Japan and the UK could be associated with national-level divergence regarding the culture of autism.

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16. Pang X, Zhang Q, Wang Y, Zhan Y, Guo M, Chen B, Li Q, Zheng H. Characteristics of the Gut Microbiota in Young Adults with Autism Spectrum Disorder. J Integr Neurosci;2023 (Oct 23);22(6):141.

BACKGROUND: Although the characteristics of the gut microbiota of children with autism spectrum disorder (ASD) have been well studied, those of young adults with ASD have seldom been reported. METHODS: Using 16S rRNA gene sequencing, we characterized the gut microbiota of 19 young adults with ASD and compared them with that of 19 healthy adults. A random forest prediction model was used to distinguish between the two groups at the genus level. RESULTS: The abundance levels of one phylum, seven families, and 18 genera in adults with ASD were significantly different from those of controls. The genus Phascolarctobacterium was significantly enriched in adults with ASD, which might elicit ASD-like behavior through production of propionate. In addition, a random forest model identified 15 genera that could distinguish adults with ASD from healthy controls with areas under the receiver operating curve of 92.86%, and ten of them were biomarkers identified by LEfSe. CONCLUSIONS: Our results identified specific gut bacteria associated with ASD, and the successful application of certain genera in the prediction model further supports the association between gut microbiota and ASD.

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17. Ran Q, Tu L, Wu Y, Zhang S, Zhang E, Li H, Su Y, Xiang M. Formal social support and quality of life of caregivers with autistic children: a large-scale nationwide survey in China. Front Public Health;2023;11:1282778.

INTRODUCTION: Caregivers of children with autism spectrum disorder (ASD) were reported poor quality of life (QOL). Formal social support might improve the QOL of caregivers, however, limited research to date has focused on this association in China and formal social support for this group is conspicuously lacking. The study was aim to understand the QOL in male and female caregivers with ASD children in China and to explore the relationship between QOL and formal social support for caregivers with children with ASD through a large-scale nationwide survey. METHODS: An online questionnaire was used to conduct a cross-sectional study with a sample of 6,120 caregivers of children with ASD. Relationship between Quality of Life and several potential predictors is measured and analyzed. Quality of life were measured by Medical Study Short-Form Health Survey version 2 (Chinese version). Multivariate logistic regression analysis was used to analyze the factors affecting caregivers’ QOL. RESULTS: The results revealed that the QOL of caregivers of autistic children in China was poor especially male caregivers. Social support was a positive predictor. More importantly, formal social support from rehabilitation institutions can improve caregivers’ physical QOL. Caregivers’ satisfaction with the rehabilitation institutions affecting their physical and mental QOL. CONCLUSION: The formal social support provided by rehabilitation institutions plays a positive role in improving the quality of life of caregivers.

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18. Sallam DE, Shaker YS, Mostafa GA, El-Hossiny RM, Taha SI, Ahamed M. Evaluation of serum interleukin-17 A and interleukin-22 levels in pediatric patients with autism spectrum disorder: a pilot study. BMC Pediatr;2024 (Jan 5);24(1):18.

BACKGROUND: Many neurodevelopmental abnormalities are connected to autism spectrum disorder (ASD), which can result in inflammation and elevated cytokine levels due to immune system dysregulation. Interleukin (IL)-17 A and IL-22 have been linked to the regulation of host defense against pathogens at the barrier surface, the regeneration of injured tissue, and the integration of the neurological, endocrine, and immune systems. Several studies have investigated the possible connection between IL-17 A and ASD as well as the severity of behavioral symptoms, but few of them included IL-22. OBJECTIVES: To measure serum levels of interleukin (IL)-17 A and IL-22 in children with ASD and to investigate their association with disease severity. METHODS: This pilot study was performed on 24 children with ASD and 24 matched controls. Childhood Autism Rating Scale (CARS) assessed ASD severity, and serum levels of IL-17 A and IL-22 were assessed by enzyme-linked immunosorbent assay (ELISA). RESULTS: In ASD patients, serum levels of IL-17 A and IL-22 showed a significant increase compared to controls (p-values < 0.001). We compared serum levels of IL-17 A and IL-22 according to the severity categories by CARS and could not find any significant differences (p-values > 0.05). Only IL-22 had a significant positive correlation with ASD severity by CARS scores. CONCLUSIONS: Raised serum levels of IL-17 A and IL-22 are associated with ASD; only IL-22, not IL-17 A, is correlated with ASD severity. This finding proposes IL-22 as a possible future effective target for ASD treatment. To fully comprehend the significance of these cytokines in ASD and their possible effects on ASD diagnosis and treatment, more research on a wider scale is required.

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19. Scherf KS, Griffin JW, Geier CF, Smyth JM. Social visual attention as a treatment outcome: evaluating the social games for autistic adolescents (SAGA) intervention. Sci Rep;2024 (Jan 5);14(1):619.

A core feature of autism involves difficulty perceiving and interpreting eye gaze shifts as nonverbal communicative signals. A hypothesis about the origins of this phenotype is that it emerges from developmentally different social visual attention (SVA). We developed Social Games for Autistic Adolescents (SAGA; Scherf et al. BMJ Open 8(9):e023682, 2018) as a serious game intervention for autistic individuals to discover the significance of eye gaze cues. Previously, we demonstrated the effectiveness of SAGA to improve the perception and understanding of eye gaze cues and social skills for autistic adolescents (Griffin et al. JCPP Adv 1(3):e12041, 2021). Here, we determine whether increases in social visual attention to faces and/or target gazed-at objects, as measured via eye tracking during the same Gaze Perception task in the same study sample, moderated this improvement. In contrast to predictions, SVA to faces did not differentially increase for the treatment group. Instead, both groups evinced a small increase in SVA to faces over time. Second, Prior to the SAGA intervention, attention to faces failed to predict performance in the Gaze Perception task for both the treatment and standard care control groups. However, at post-test, autistic adolescents in the treatment group were more likely to identify the object of directed gaze when they attended longer to faces and longer to target objects. Importantly, this is the first study to measure social visual attention via eye tracking as a treatment response in an RCT for autism. NCT02968225.

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20. Stasolla F, Passaro A, Di Gioia M, Curcio E, Zullo A. Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy. Front Psychol;2023;14:1273117.

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21. Stefanyshyn V, Sheiko M, Pyantkovska N, Stetsyuk R, Pokhylko V, Fishchuk L, Rossokha Z. Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism. J Mol Neurosci;2024 (Jan 5);74(1):1.

Autistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence – metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a « mild phenotype » of autism without an obvious delay in mental development. A wide range of additional studies included genetic testing of folate metabolism genes and analysis of metabolites of the methylation cycle and detection of antibodies to folic acid alpha receptors. A heterozygous variant of the MTHFR gene (rs1801133), moderate hyperhomocysteinemia, hypermethylation, and an increased titer of antibodies to alpha receptors of folic acid were revealed in the patient. This clinical case indicates the need for a multifaceted clinical and laboratory examination in children with ASD to identify the metabolic phenotype and prescribe personalized treatment. A personalized treatment strategy will improve the cognitive functions, psycho-emotional state, and social adaptation of individuals with ASD in the long term. »

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22. Tripathi MK, Ojha SK, Kartawy M, Khaliulin I, Hamoudi W, Amal H. Mutations associated with autism lead to similar synaptic and behavioral alterations in both sexes of male and female mouse brain. Sci Rep;2024 (Jan 4);14(1):10.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder based on synaptic abnormalities. The estimated prevalence rate of male individuals diagnosed with ASD prevails over females is in a proportion of 4:1. Consequently, males remain the main focus in ASD studies in clinical and experimental settings. Meanwhile, some studies point to an underestimation of this disorder in females. In this work, we studied the sex differences of the synaptic and behavioral phenotypes of ASD mouse models. Juvenile male and female Shank3(Δ4-22) and Cntnap2(-/-) mutant mice and their WT littermates were used in the experiments. The animals were subjected to a Three-Chamber Sociability Test, then euthanized, and the whole cortex was used for the evaluation of the synaptic phenotype. Protein levels of glutamatergic (NR1) and GABAergic (GAD1 and VGAT) neuronal markers were measured. Protein level of synaptophysin (Syp) was also measured. Dendritic spine density in somatosensory neurons was analyzed by Golgi staining methods. Spine Density and GAD1, NR1, VGAT, and Syp levels were significantly reduced in Shank3(Δ4-22) and Cntnap2(-/-) mice compared to the control group irrespective of sex, indicating impaired synaptic development in the mutant mice. These results were consistent with the lack of differences in the three-chamber sociability test between male and female mice. In conclusion, female ASD mice of both mutations undergo similar synaptic aberrations as their male counterparts and need to be studied along with the male animals. Finally, this work urges the psychiatry scientific community to use both sexes in their investigations.

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23. Zhao Y, Lu F, Wang X, Luo Y, Zhang R, He P, Zheng X. The economic burden of autism spectrum disorder with and without intellectual disability in China: A nationwide cost-of-illness study. Asian J Psychiatr;2023 (Dec 20);92:103877.

OBJECTIVE: The economic burden of autism spectrum disorder (ASD) on individuals, their families and society as a whole is poorly understood. Accurate figures are crucial for economic estimates and service planning. METHODS: The total lifetime individual costs and annual societal costs of ASD in China were estimated with a prevalence-based, gross cost of illness approach and data from multiple sources. The direct medical costs in outpatient and inpatient settings from the electronic health records (EHRs) of hospitals, and direct nonmedical costs from a national survey were included. The indirect costs were from both the national survey and the estimation using human capital methods. Age-specific lifetime incremental societal costs were measured. Comorbidity-related and unrelated costs were analyzed separately. RESULTS: The discounted lifetime cost for an individual with ASD in China was $2.65 million (at 2020 prices, $) for those without intellectual disability (ID) and $4.61 million (at 2020 prices, $) for those with ID. The total cost of ASD amounted to $41.8 billion in 2020. Productivity loss were major cost drivers for ASD individuals without ID. Direct nonmedical costs (rehabilitation or adult care costs etc.) were major drivers for ASD individuals with ID. In a lifetime course, the total annual costs for middle aged and elderly (>42 years) were highest, followed by transitional adults (18-29 years) and preschoolers, both for individuals with or without ID. The distribution of costs over the lifespan varied by the cost category. CONCLUSIONS: ASD imposes a substantial economic burden on families and health care systems. Sectors and services coordination should be given policy considerations.

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