1. Alharbi A, Bamaga AK, Algarni MA, Abduljabbar MH, Alnemari RM, Althobaiti YS, Alsenani F, Abdelazim AH, Almalki AH. Spectrofluorometric determination of ascorbic acid in the plasma matrix: Exploring correlation with autism spectrum disorder. Anal Biochem;2024 (Aug 21);695:115649.

Ascorbic acid (Vitamin C) is crucial for bodily functions, including collagen synthesis, immune system support and antioxidant defense. Despite autism spectrum disorder’s multifactorial nature involving genetic, environmental and neurological factors, robust evidence exploring the association between ascorbic acid and this disorder is notably lacking. This study introduces an innovative spectrofluorometric method to quantify ascorbic acid in the plasma of healthy children and those with autism spectrum disorder. The method relies on the interaction of ascorbic acid with the fluorescent dye propidium iodide. In acidic conditions, propidium iodide undergoes protonation and selectively binds to the negatively charged ascorbic acid forming an ion-pair complex. This complex alters the molecular structure of propidium iodide inducing chemical fluorescence quenching, that can be utilized for ascorbic acid quantification. The developed method undergoes rigorous validation following ICH guidelines, demonstrating a linear relationship within a concentration range of 4-40 μg/mL, with high precision and accuracy metrics. Analysis of real plasma samples from autistic and healthy children reveals clinically and statistically elevated levels of ascorbic acid in those with autism spectrum disorder.

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2. Atherton G, Hathaway R, Visuri I, Cross L. A critical hit: Dungeons and Dragons as a buff for autistic people. Autism;2024 (Aug 21):13623613241275260.

Tabletop role-playing games (TTRPGs) are popular hobbies that may offer specific social benefits for autistic people. This study investigated the ability of TTRPGs to provide a safe space where autistic adults could develop relationships with other autistic adults while engaging in character and world-building. A group of eight autistic adults were split into two groups and taken through a short-form online Dungeons and Dragons campaign over 6 weeks run by one of the researchers. The researcher then led a series of individual semi-structured interviews discussing how participants felt interacting in and out of the TTRPG. Several key themes were identified as important aspects of why autistic people could benefit from such an environment. Analysis showed that while real-life interactions could be challenging, in TTRPG play, they felt they experienced significantly fewer struggles. Results suggested that TTRPGs can provide a safe space environment where autistic adults can engage in productive social interactions with like-minded individuals. It also may allow autistic participants to experience ‘bleed’ or the ability to take on a new character that changes the way they feel about themselves outside of the game. Future directions for this work are discussed.

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3. Baquerizo-Sedano M, Lucero J, Taype-Rondan A. Brief historical account of autism in Peru. Rev Peru Med Exp Salud Publica;2024 (Aug 19);41(2):214-219.

We present a historical account of autism in Peru. Currently, the term « autism spectrum conditions », from the neurodiversity paradigm, is used to describe neurodevelopmental disorders characterized by persistent difficulties in communication, social interaction, and restricted and repetitive behaviors and interests. In Peru, the scientific study of nervous and mental diseases began around 1920 and although the diagnosis of « childhood autism » was proposed in 1959, it only began to spread in the 1980s. Although significant advances were made in the 21st century, Peru still faces many challenges in addressing autism.

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4. Binder MS, Escobar I, Xu Y, Sokolov AM, Zhang L, Bordey A. Reducing filamin A restores cortical synaptic connectivity and early social communication following cellular mosaicism in ASD pathways. J Neurosci;2024 (Aug 20)

Communication in the form of non-verbal, social vocalization, or crying is evolutionary conserved in mammals and is impaired early in human infants that are later diagnosed with autism spectrum disorder (ASD). Defects in infant vocalization have been proposed as an early sign of ASD that may exacerbate ASD development. However, the neural mechanisms associated with early communicative deficits in ASD are not known. Here, we expressed a constitutively active mutant of Rheb (Rheb(S16H)), which is known to upregulate two ASD core pathways, mTOR complex 1 (mTORC1) and ERK1/2, in layer (L) 2/3 pyramidal neurons of the neocortex of mice of either sex. We found that cellular mosaic expression of Rheb(S16H) in L2/3 pyramidal neurons altered the production of isolation calls from neonatal mice. This was accompanied by an expected misplacement of neurons and dendrite overgrowth, along with an unexpected increase in spine density and length, which was associated with increased excitatory synaptic activity. This contrasted with the known decrease in spine density in Rheb(S16H) neurons of one-month-old mice. Reducing the levels of the actin crosslinking and adaptor protein filamin A (FLNA), known to be increased downstream of ERK1/2, attenuated dendrite overgrowth and fully restored spine properties, synaptic connectivity, and the production of pup isolation calls. These findings suggest that upper-layer cortical pyramidal neurons contribute to communicative deficits in a condition known to affect two core ASD pathways and that these mechanisms are regulated by FLNA.Significance Statement An infant’s cry is a form of evolutionarily conserved social communication that is altered in ASD and has been proposed as an early sign of ASD. However, the neural substrate of early communicative deficits is not known. We show that cellular mosaic expression of a constitutively active Rheb, known to upregulate two core ASD pathways, selectively in upper-layer neocortical pyramidal neurons, alters the production of pup isolation calls and synaptic connectivity. These defects were prevented by reducing the expression of the adaptor protein FLNA. This underscores the importance of a specific neuronal substrate responsible for communicative deficits and its regulation by FLNA.

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5. Chistol M, Schipor MD, Turcu CE. Psychological variables related to technology-mediated intervention design in autism spectrum disorder. Res Dev Disabil;2024 (Aug 21);153:104826.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder characterized by persistent impairments in communication, social interaction and learning (Hodges et al., 2020). Because of its heterogeneous nature, ASD presents complex challenges, including social exclusion, school abandonment and limited access to health care. Technologies offer a pragmatic solution to overcome these limitations and to deliver therapeutic interventions in both physical and online environments. Studies have demonstrated that technology-mediated interventions (TMIs) have a positive impact on the development of capabilities of individuals with ASD. However, according to the European Parliament’s Research Service technologies for ASDs are less mature (European Parliament. Directorate General for Parliamentary Research Services., 2018) and the causes and effects of TMIs in ASD should be better understood. AIMS: Present study aimed to investigate the psychological variables related to TMIs in ASD. METHODS AND PROCEDURES: The study employed a survey research method with a between-subjects design involving 61 adult participants comprising therapists, teachers and parents of children with ASD and it examined psychological variables related to children with ASD, factors of technology usage, and parental and educators’ experiences. OUTCOMES AND RESULTS: The analysis of the data obtained from the questionnaire focused on correlations and differences between groups, and was carried out using nonparametric tests. Kendall’s Tau B test was used to explore the relationships between variables. The Mann-Whitney nonparametric test was employed to identify differences between groups. CONCLUSIONS AND IMPLICATIONS: The findings revealed numerous relationships between variables and meaningful differences between the groups investigated in terms of how technologies are perceived by stakeholders involved in ASD interventions.

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6. Cirnigliaro L, Clericò L, Russo LC, Prato A, Caruso M, Rizzo R, Barone R. Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life. Front Psychiatry;2024;15:1431693.

BACKGROUND: Macrocephaly is described in almost 15% of children with Autism Spectrum Disorder (ASD). Relationships between head growth trajectories and clinical findings in ASD children show a high degree of variability, highlighting the complex heterogeneity of the disorder. OBJECTIVES: The aim of this study was to measure differences of the early growth trajectory of head circumference (HC) in children with ASD and macrocephaly compared to ASD normocephalic children, examining clinical correlates in the two groups of patients. METHODS: HC data were collected from birth to 5 years of age in a sample of children with a confirmed diagnosis of ASD. Participants were classified into two groups: ASD macrocephaly (ASD-M, Z-scores ≥1.88 in at least two consecutive HC measurements), and ASD non-macrocephaly (ASD-N). Based on the distribution of HC measurements (Z-scores), five age groups were identified for the longitudinal study. Developmental and behavioral characteristics of the ASD-M children compared to the ASD-N group were compared by using standardized scores. RESULTS: 20,8% of the children sample met criteria for macrocephaly. HC values became indicative of macrocephaly in the ASD-M group at the age range from 1 to 6 months, and persisted thereafter throughout the first five years of age. ASD-M children showed significantly higher developmental quotients of Griffiths III B and D subscales compared to ASD-N group. No significant differences in the severity of ASD symptoms assessed by ADOS-2 were observed between ASD-M and ASD-N groups. CONCLUSION: In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal analyses are required to catch-up prospectively possible relationships between head size as proxy measure of brain development and neuro-developmental and behavioral features in children with ASD.

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7. Ferguson EF, Spackman E, Cai RY, Hardan AY, Uljarević M. Characterizing associations between emotion dysregulation, anxiety, and repetitive behaviors in autistic youth with intellectual disability. Autism Res;2024 (Aug 21)

There is a paucity of research that explores associations between emotion dysregulation and the expression and severity of core and co-occurring characteristics of autism spectrum disorder (ASD), especially in autistic youth with co-occurring intellectual disability (ID). This study explored the interplay between developmental characteristics and emotion dysregulation, anxiety, and specific subtypes of RRBs that are elevated in autistic youth with co-occurring ID. Generalized additive models demonstrated that age, sex, language level, dysregulation, and anxiety showed unique patterns of association with subtypes of RRBs in a sample of 150 autistic youth with co-occurring ID who are non-speaking or minimally verbal. More specifically, higher anxiety levels were significantly associated with elevations in repetitive sensory motor behaviors (RSMB), self-injurious behaviors (SIB), insistence on sameness (IS), and unusual interests (UI). While emotion dysregulation was a significant predictor of UI, it demonstrated positive, albeit not significant, associations with the intensity of SIB and RSMB. Language level was a significant predictor of RSMB, such that the intensity of RSMB was higher for individuals who were non-speaking relative to those who spoke in single words. These findings provide preliminary insights into patterns of associations between emotion dysregulation, anxiety, and specific subdomains of RRBs in autistic youth with ID.

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8. Folz J, Nikolić M, Kret ME. Individual differences in interoception and autistic traits share altered facial emotion perception, but not recognition per se. Sci Rep;2024 (Aug 21);14(1):19455.

While alterations in both physiological responses to others’ emotions as well as interoceptive abilities have been identified in autism, their relevance in altered emotion recognition is largely unknown. We here examined the role of interoceptive ability, facial mimicry, and autistic traits in facial emotion processing in non-autistic individuals. In an online Experiment 1, participants (N = 99) performed a facial emotion recognition task, including ratings of perceived emotional intensity and confidence in emotion recognition, and reported on trait interoceptive accuracy, interoceptive sensibility and autistic traits. In a follow-up lab Experiment 2 involving 100 participants, we replicated the online experiment and additionally investigated the relationship between facial mimicry (measured through electromyography), cardiac interoceptive accuracy (evaluated using a heartbeat discrimination task), and autistic traits in relation to emotion processing. Across experiments, neither interoception measures nor facial mimicry accounted for a reduced recognition of specific expressions with higher autistic traits. Higher trait interoceptive accuracy was rather associated with more confidence in correct recognition of some expressions, as well as with higher ratings of their perceived emotional intensity. Exploratory analyses indicated that those higher intensity ratings might result from a stronger integration of instant facial muscle activations, which seem to be less integrated in intensity ratings with higher autistic traits. Future studies should test whether facial muscle activity, and physiological signals in general, are correspondingly less predictive of perceiving emotionality in others in individuals on the autism spectrum, and whether training interoceptive abilities might facilitate the interpretation of emotional expressions.

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9. Frazier T. Autism screening is critical for the most vulnerable children. Dev Med Child Neurol;2024 (Aug 21)

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10. Hamner T, Perez Liz G, Kelly K, Nanovic S, Turchi R, Fein D, Robins DL. Autism screening and diagnostic outcomes among toddlers born preterm. Dev Med Child Neurol;2024 (Aug 21)

AIM: To examine the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), with follow-up screening and diagnostic outcomes for children born preterm. A secondary aim was to examine diagnostic evaluation attendance after screening to inform clinical practice. METHOD: Using a cross-sectional design, 9725 toddlers (4951 males; 4774 females) whose gestational age was reported were screened at 15-month, 18-month, or 24-month well-child visits; screen-positive children were invited for an autism evaluation. Screening measure performance and diagnostic outcomes were evaluated according to preterm classification (Screening: n(ExtPreterm) = 111; n(VeryPreterm) = 186; n(ModPreterm) = 1122; n(FullTerm) = 8306; Evaluation: n(ExtPreterm) = 27; n(VeryPreterm) = 21; n(ModPreterm) = 86; n(FullTerm) = 301). RESULTS: Screen-positive rates were highest for children born extremely preterm (51.35%) and lowest for children born at term (6.95%). Evaluation attendance for screen-positive cases did not differ according to preterm classification. Rates of autism diagnoses differed depending on preterm birth status: for children born extremely preterm, it was 16.05%; for children born very preterm, it was 2.00%; for children born moderately preterm, it was 2.89%; and for children born at term, it was 1.49%. M-CHAT-R/F sensitivity decreased with increasing gestational age, whereas specificity improved with increasing gestational age. Positive predictive value was highest for children born extremely preterm and children born at term. Negative predictive value was consistently strong across all groups. The likelihood ratio for positive screening increased with gestational age. INTERPRETATION: The sensitivity and specificity of the M-CHAT-R/F are acceptable in toddlers born preterm. Autism screening-positive rates and prevalence increased with earlier preterm birth. Those born extremely preterm showed the greatest likelihood of an autism diagnosis; screening should not be delayed based on adjusted age.

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11. Harvey S, Liyanagamage D, Pal T, Klockars A, Levine AS, Olszewski PK. Palatable solution overconsumption in the Cntnap2-/- murine model of autism: a link with oxytocin. Neuroreport;2024 (Aug 7)

Dysregulated appetite is common in autism spectrum disorder (ASD) and it includes excessive interest in tasty foods. Overconsumption of palatable fluids has been found in the valproic acid-induced ASD rat. Though ASD has a strong genetic component, the link between ASD-related genes and appetite for palatable foods remains elusive. We focused on the CNTNAP2 gene whose deletion in mice recapitulates human ASD symptoms. We investigated whether Cntnap2-/- male mice consume greater amounts of palatable 10% sucrose, 0.1% saccharin, and 4.1% intralipid solutions offered in episodic meals either in a no-choice paradigm or a two-bottle choice test. We examined how sucrose intake affects c-Fos immunoreactivity in feeding-related brain areas. Finally, we determined doses at which intraperitoneal oxytocin decreases sucrose intake in mutants. In the single-bottle tests, Cntnap2-/- mice drank more sucrose, saccharin, and intralipid compared to WTs. Given a choice between two tastants, Cntnap2-/- mice had a higher preference for sucrose than intralipid. While the standard 1 mg/kg oxytocin dose reduced sucrose intake in WTs, a low oxytocin dose (0.1 mg/kg) decreased sucrose intake in Cntnap2-/- mice. Sucrose intake induced a more robust c-Fos response in wild-type (WT) than Cntnap2-/- mice in the reward and hypothalamic sites and it increased the percentage of Fos-immunoreactivity oxytocin neurons in WTs, but not in mutants. We conclude that Cntnap2-/- mice overconsume palatable solutions, especially sucrose, beyond levels seen in WTs. This excessive consumption is associated with blunted c-Fos immunoreactivity in feeding-related brain sites, and it can be reversed by low-dose oxytocin.

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12. Ikeda A, Hakuno Y, Asada K, Ikeda T, Yamagata T, Hirai M. Developmental process of the understanding of linguistic register in children: A comparison of typically developing children, autistic children, and children with Williams syndrome. Autism Res;2024 (Aug 21)

Although the developmental process of linguistic register-the appropriate manner of speech as determined by the listener and social situation-has been gradually clarified in typically developing (TD) children, research on the mechanism and developmental process of register acquisition in atypically developing children are insufficient. This study compared the developmental process of understanding linguistic register among TD children, autistic children, and those with Williams syndrome (WS), and examined the contributions of social cognition and motivation to the acquisition of linguistic register. Two experiments were designed to assess the recognition of which linguistic register to use when communicating with different listeners and of the listener’s feelings according to the speakers’ use of register. The results revealed that the process of understanding register-listener associations was nearly identical among all groups of children and their understanding improved with age. Conversely, their understanding of the effect of register selection on the listener’s feelings varied. Importantly, as TD children mature, they become aware that adult listeners may feel negatively when spoken to in an inappropriate register, whereas autistic children and those with WS do not exhibit the same awareness. Thus, our results suggest that atypical social cognition and motivation do not disturb the understanding of register-listener associations. However, social cognition and motivation play important roles in understanding the effect of register selection on the listener’s feelings. These findings provide a significant contribution to clarifying the mechanism of linguistic register acquisition.

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13. Kaba D, Arıcı Canlı M. Exploration of Risk Factors for Language Regression According to Parent Reports in Turkish Children with Autism Spectrum Disorder. Psychiatry Clin Psychopharmacol;2024 (Jun);34(2):172-178.

BACKGROUND: Approximately 30% of autism spectrum disorder (ASD) cases exhibit developmental regression after a period of typical development, leading to what is known as regressive autism. Our understanding of the factors underlying regression, including precise mechanisms, clinical features, and risk factors, remains limited. This study aims to compare children with ASD with language regression (ASD-LR) to those without developmental regression (ASD-NR) in terms of clinical and demographic characteristics and to identify potential predictors. METHODS: In this cross-sectional retrospective study, children aged 2-6 diagnosed with ASD-LR were matched for age and gender with children diagnosed with ASD-NR between January 2023 and January 2024. The groups were compared in terms of demographic and clinical characteristics. RESULTS: The mean age of the ASD-LR group (n = 32) was 52.16 ± 14.56 months, and the ASD-NR group (n = 50) had a mean age of 48.76 ± 13.41 months. Univariate analyses revealed no significant differences in autism severity between groups in clinician (P = .367) and parent evaluations (P = .541). However, in the ASD-LR group, a significant relationship was found between regression, a history of febrile seizures (P = .012), a father’s psychiatric background (P = .002), and a family history of psychiatric disorders (P < .001). Family history of psychiatric disorders (OR 7.54, 95% CI 1.10-51.64, P = .040) and cesarean delivery (odds ratio 3.90, 95% CI 1.05-14.47, P = .042) were identified as independent predictors of language regression. CONCLUSION: The results indicate that regression may be associated with both genetic and environmental factors, including a family history of psychiatric disorders, cesarean delivery, and febrile seizure. Future research should focus on explaining these factors and identifying potential preventive measures.

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14. Lau-Zhu A, Chan C, Gibson D, Stark E, Wang J, Happé F, Stacey J, Cooper M. Specificity of Episodic Future Thinking in Adolescents: Comparing Childhood Maltreatment, Autism Spectrum, and Typical Development. Res Child Adolesc Psychopathol;2024 (Aug 21)

Maltreatment and autism can be associated with overlapping difficulties across functional domains (e.g., social, emotional, and sensory) and high rates of mental health problems. A cognitive approach focussing on affect-laden cognition, here on episodic future thinking (FT), could help inform cognitive assessments and adapt psychological interventions. Three groups of adolescents (N = 85), (i) maltreatment (n = 28), (ii) autism (n = 29), and (iii) typical development without maltreatment/autism (TD; n = 28), matched in age (10-16 years old), sex (assigned at birth), and socioeconomic status, completed a newly adapted online Autobiographical Future Thinking Test. As predicted, the maltreatment group generated significantly fewer specific future events relative to the TD group, however, the number of specific future events did not significantly differ between the autism and the other groups. Exploratory analyses showed that lower FT specificity was significantly associated with more depressive (but not anxiety) symptoms across the three groups. These findings shed light on the cognitive profiles of both maltreatment and autism during adolescence and signal FT as a potential therapeutic target for adolescents with these developmental differences. Our study lays the foundation for additional comparisons of maltreatment-related presentations versus autism with improved designs and a broader set of cognitive and clinical domains.

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15. Moreno RJ, Rose DR, Tancredi DJ, Schmidt RJ, Ozonoff SJ, Ashwood P. Cord blood cytokine profiles in children later diagnosed with autism spectrum disorder: Results from the prospective MARBLES study. Brain Behav Immun;2024 (Aug 18);122:339-344.

In studies investigating the etiology and pathophysiology of autism spectrum disorder (ASD), immune dysregulation is commonly observed, with elevated levels of inflammatory cytokines frequently found in gestational tissues. However, studies investigating the relationship between early immune dysregulation within the umbilical cord blood (CB) compartment and neurodevelopmental outcomes remains limited. In this exploratory study, we utilized data from the prospective Markers for Autism Risk in Babies – Learning Early Signs (MARBLES) study to examine cytokine levels in the plasma fraction of CB in infants later diagnosed with ASD (n = 38) compared to infants typically developing (TD) at age 3 years (n = 103), using multiplex cytokine assays. Our findings reveal altered levels of several inflammatory cytokines in children later diagnosed with ASD, including increased granulocyte colony-stimulating factor (G-CSF) and decreased interleukin-1α (IL-1α), IL-1β, and IL-4 in CB. Furthermore, we identified several associations between behaviors and levels of cytokines, chemokines and growth factors. IL-1α, IL-17A, interferon γ-induced protein 10 (IP-10), and epidermal growth factor (EGF) were associated with worse scores on Autism Diagnostic Observation Schedule (ADOS) and the Mullen Scales of Early Learning (MSEL) assessments. In summary, our study demonstrates dysregulated levels of inflammatory cytokine mediators in the CB of children later diagnosed with ASD and that inflammatory mediators were associated with ASD severity, comorbid behaviors, and neurodevelopmental measures. These findings have important implications for the possible predictive value of early cytokine measures in neurodevelopmental outcomes and subsequent behavioral manifestations.

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16. Shom S, Saha S, Chatterjee M, Sinha S, Mukhopadhyay K. Indian ASD probands with 25(OH)D and vitamin D binding protein deficiency exhibited higher severity. Sci Rep;2024 (Aug 20);14(1):19242.

The severity of autism spectrum disorder (ASD) shows wide variations, though the reason remains unclear. Vitamin D (VitD) deficiency is considered a risk factor for ASD and its supplementation was reported to reduce symptom severity. Since VitD, either synthesized in the skin or absorbed from the food, is transported to the liver by the vitamin D binding protein (DBP), we have analyzed DBP genetic polymorphisms [rs7041 (A/C), rs4588 (G/T), and rs3755967 (C/T)] affecting DBP function [Case = 411; Control = 397], levels of plasma 25(OH)D and DBP [Case = 25; Control = 26], and DBP mRNA expression [Case = 74; Control = 44] in a group of Indo-Caucasoid ASD probands and neurotypical subjects. ASD probands with rs7041’CC’, rs4588 ‘TT’, and rs3755967 ‘TT’ genotypes exhibited higher scores for a few traits. Scores for Imitation and Listening response were also higher in the presence of the « A-T » haplotype (rs7041-rs4588). Plasma 25(OH)D and DBP levels as well as DBP mRNA expressions were significantly lower in the ASD probands as compared to the neurotypical subjects. We infer that DBP deficiency, in the presence of risk genetic variants, could be one of the reasons for the reported 25(OH)D deficiency of the ASD probands.

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17. Sutherland R, Turnbull A, Toms A, Perry C, Watts A. Australian SLPs’ knowledge and actions regarding the early signs of autism: When does caution become gatekeeping?. Int J Speech Lang Pathol;2024 (Aug 21):1-13.

PURPOSE: Speech-language pathologists (SLPs) are often the first point of contact for families of children with autism. Despite this, little is known about SLPs’ understanding of autism and its early indicators. This study sought to investigate what Australian SLPs know about autism, the early indicators, and the actions they take when they identify these characteristics. METHOD: A 34 question cross-sectional online survey was distributed through professional networks, social media channels, and industry contacts to Australian SLPs. Quantitative and qualitative data were analysed. RESULT: The 70 participants worked in various contexts around the country. The majority of participants demonstrated sound knowledge of the main characteristics of autism, and some early indicators. Quantitative analysis identified a significant correlation between participant age and confidence talking to parents about possible autism. Overarching themes were identified: (a) caution may delay or prevent SLPs from taking action, (b) some factors may influence SLPs’ action, and (c) SLPs take action. CONCLUSION: Australian SLPs working with children have the knowledge and understanding of the main characteristics of autism and some early indicators. However, they demonstrate a cautious approach around the subject of autism, and this caution may cause delays for children requiring diagnostic services.

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18. Ünsel-Bolat G, Bolat H. Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures. Int J Dev Neurosci;2024 (Aug 21)

The SETD1B gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in-frame deletion variant of the SETD1B gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the SETD1B gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of SETD1B and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The SETD1B gene is included in both the ASD genetic database of SFARI (https://gene.sfari.org/) and the cancer database of COSMIC (https://cancer.sanger.ac.uk/cosmic). However, there are very few reports of SETD1B gene variants as clinical entities. To our knowledge, the SETD1B gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.

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19. Westby C, Roman R. Developing Knowledge of Autism in Majority World Countries: Examples of Bolivia and Paraguay. Neuropsychiatr Dis Treat;2024;20:1583-1595.

Bolivia and Paraguay are Majority World countries, which are defined as areas within which most of the world’s population live, natural resources and landmass are located, but are often economically poor. Minority world countries, such as, the United States, have a smaller percentage of the world’s population, but often a greater share of the world’s wealth. Many Majority World countries, such as Bolivia and Paraguay, have not collected prevalence data on autism and assessments and interventions for persons are quite limited, if they are available at all. Persons with autism in Bolivia and Paraguay are at most underserved and the majority are unserved. This article reviews topological, demographic, and economic/political factors affecting the identification and provisions of services for autistic children and the current health and educational status for autistic persons in Bolivia and Paraguay. Descriptions of the efforts of outside consultants to assist parents and professional within those countries to gain information and develop assessment and intervention programs for autistic children are described. Attention is given to methodologies employed by United States consultants to ensure the implementation of culturally responsive practices. Consultants employed skilled dialogue when interviewing parents and professionals in Bolivia and Paraguay to understand their perspectives so as to guide content of trainings. The PRECEDE-PROCEED framework was employed to develop a culturally-responsive approach to assessment and intervention.

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20. Zilkha N, Chuartzman SG, Fishman R, Ben-Dor S, Kimchi T. Maternal high-fat or low-protein diets promote autism-related behavior and altered social behavior within groups in offspring male mice. Sci Rep;2024 (Aug 20);14(1):19227.

Maternal malnutrition has been associated with neurodevelopmental deficits and long-term implications on the offspring’s health and behavior. Here, we investigated the effects of maternal low-protein diet (LPD) or obesity-inducing maternal high-fat diet (HFD) on dyadic social interactions, group organization and autism-related behaviors in mice. We found that maternal HFD induced an autism-related behavioral phenotype in the male offspring, including a robust decrease in sociability, increased aggression, cognitive rigidity and repetitive behaviors. Maternal LPD led to a milder yet significant effect on autism-related symptoms, with no effects on olfactory-mediated social behavior. Under naturalistic conditions in a group setting, this manifested in altered behavioral repertoires, increased magnitude in dominance relations, and reduced interactions with novel social stimuli in the HFD male offspring, but not in the LPD offspring. Finally, we found HFD-induced transcriptomic changes in the olfactory bulbs of the male offspring. Together, our findings show that maternal malnutrition induces long-lasting effects on aggression and autism-related behaviors in male offspring, and potential impairments in brain regions processing chemosensory signals.

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