1. Aydın Ö G, Baykara HB, Akın K, Kahveci S, Şeker G, Güler Y, Öztürk Y. Evaluation of functional gastrointestinal disorders in children aged 4-10 years with autism spectrum disorder. Turk J Pediatr. 2024; 66(1): 57-64.

BACKGROUND: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD. METHODS: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs. RESULTS: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence. CONCLUSION: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.

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2. Berenguer C, Rosa E, De Stasio S, Choque Olsson N. Sleep quality relates to language impairment in children with autism spectrum disorder without intellectual disability. Sleep Med. 2024; 117: 99-106.

OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good). We then performed a series of MANCOVAs and ANOVAs to compare the sleep quality and language skills of the two ASD clusters and the TD group. RESULTS: A main group effect (TD, « poor » cluster, and « good » cluster) was found in the total sleep quality and all its dimensions. Significant differences were revealed between the « good » and « poor » clusters in the total structural language score (F1,46 = 10.75, p < 0.001) and three of its subscales (speech: F1,46 = 9.19, p < 0.001; syntax, F1,46 = 8.61, p = 0.001; coherence: F1,46 = 11.36, p < 0.001); the total pragmatic language score (F1,46 = 7.00, p = 0.001) and three of its subscales (inappropriate initiation: F1,46 = 8.02, p = 0.001; use of context: F1,46 = 8.07, p = 0.001; nonverbal communication: F1,46 = 7.35, p = 0.001); and the social relations score (F1,46 = 9.97, p = 0.003). CONCLUSIONS: Sleep quality in children with ASD (especially a subgroup) is worse than in children with TD. There is an association between sleep quality and language skills, both at the pragmatic and structural levels.

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3. Brady PW, Ruddy RM, Ehrhardt J, Corathers SD, Kirkendall ES, Walsh KE. Assessing the Revised Safer Dx Instrument(®) in the understanding of ambulatory system design changes for type 1 diabetes and autism spectrum disorder in pediatrics. Diagnosis (Berl). 2024.

OBJECTIVES: We sought within an ambulatory safety study to understand if the Revised Safer Dx instrument may be helpful in identification of diagnostic missed opportunities in care of children with type 1 diabetes (T1D) and autism spectrum disorder (ASD). METHODS: We reviewed two months of emergency department (ED) encounters for all patients at our tertiary care site with T1D and a sample of such encounters for patients with ASD over a 15-month period, and their pre-visit communication methods to better understand opportunities to improve diagnosis. We applied the Revised Safer Dx instrument to each diagnostic journey. We chose potentially preventable ED visits for hyperglycemia, diabetic ketoacidosis, and behavioral crises, and reviewed electronic health record data over the prior three months related to the illness that resulted in the ED visit. RESULTS: We identified 63 T1D and 27 ASD ED visits. Using the Revised Safer Dx instrument, we did not identify any potentially missed opportunities to improve diagnosis in T1D. We found two potential missed opportunities (Safer Dx overall score of 5) in ASD, related to potential for ambulatory medical management to be improved. Over this period, 40 % of T1D and 52 % of ASD patients used communication prior to the ED visit. CONCLUSIONS: Using the Revised Safer Dx instrument, we uncommonly identified missed opportunities to improve diagnosis in patients who presented to the ED with potentially preventable complications of their chronic diseases. Future researchers should consider prospectively collected data as well as development or adaptation of tools like the Safer Dx.

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4. Cappe E, Despax J, Pedoux A, Zylberberg P, Chaste P, De Gaulmyn A, Doyen C, Pommepuy N. Parental involvement and adjustment during the diagnostic evaluation of autism spectrum disorder at two diagnostic centers. Encephale. 2024.

OBJECTIVES: The primary objective of this study was to determine the effects of permanent, mediated parental presence during all autism spectrum disorder diagnostic evaluations on parental adjustment (perceived parental stress and sense of parental competence) compared with procedures that traditionally only involve parents in pivotal periods of the diagnosis. The level of satisfaction with the diagnostic procedure and parents’ needs were also evaluated to complete this first objective. The secondary objective was to assess the effects of psychosocial, individual, and contextual variables on perceived parental stress and sense of parental competence. METHODS: The total sample of 49 parents was divided (using simple randomization) into two subgroups, each for a different procedure. Participants were met with once before the first consultation and once after. They completed self-reported questionnaires on parental stress, sense of parental competence, satisfaction with the procedure, social support, locus of control, and appraisal of life events. Statistical analysis was conducted using SPAD and SPSS software. RESULTS: There was no difference between the two groups in the variables assessed. Satisfaction with the diagnostic procedure was high in both groups, but parents highlighted that they had important needs following the diagnosis. The child’s level of autonomy, the presence of disruptive behaviors, and satisfaction with social support were found to be important for determining parental adjustment. CONCLUSIONS: Several hypotheses may explain the lack of differences between the two groups, including that parents may not yet have been in a position to benefit from the procedure aimed at integrating them. Our suggestion is that professional interventions should focus on improving the child’s autonomy and helping the parent to develop a satisfactory support network. Finally, parents’ needs for the post-diagnosis phase should be given greater consideration, particularly in future research.

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5. Cordero DA, Jr. Children With Intellectual and Developmental Disabilities in the Philippines: Challenges and Interventions. Glob Pediatr Health. 2024; 11: 2333794×241240955.

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6. Crabtree A, Caudel D, Pinette J, Vang C, Neikirk K, Kabugi K, Zaganjor E, Hinton A, Jr. Recruiting and retaining autistic talent in STEMM. iScience. 2024; 27(3): 109080.

Autistic adults (AA) have the highest unemployment rate relative to other groups, regardless of disability status. Systemic changes are needed to acquire and retain AA in science, technology, engineering, mathematics, and medicine (STEMM). Here, we discuss the unique challenges AA face in STEMM and possible solutions to overcome them.

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7. Dixon CJ, Ethridge BA, Tillman AP, Sugg JH, Jr. Self-Restricted Diet in Pediatric Autism Leading to Vitamin A Deficiency and Severe Photophobia. Cureus. 2024; 16(2): e54618.

In developed countries, vitamin A deficiency (VAD) remains rare but is a leading cause of global blindness. We describe the case of a 10-year-old girl with autism spectrum disorder (ASD) initially presenting mild VAD symptoms, escalating to severe photophobia and reluctance to leave a darkened room due to a self-restricted diet of fast-food french fries. A timely examination revealed severe VAD and vitamin A supplementation resolved her symptoms in three weeks. This case highlights the challenge of obtaining accurate patient history in ASD, emphasizing the need for routine dietary discussions and micronutrient testing, especially at ages nine and 13 when the United States Department of Agriculture (USDA) recommends increased vitamin A intake. Early intervention can prevent micronutrient deficiencies in pediatric patients, particularly those with ASD.

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8. Fan L, Zeng X, Jiang Y, Zheng D, Wang H, Qin Q, Li M, Wang H, Liu H, Liang S, Pang X, Shi S, Wu L, Liang S. Yigansan ameliorates maternal immune activation-induced autism-like behaviours by regulating the IL-17A/TRAF6/MMP9 pathway: Network analysis and experimental validation. Phytomedicine. 2024; 128: 155386.

BACKGROUND: Maternal immune activation (MIA) is a significant factor inducing to autism spectrum disorder (ASD) in offspring. The fundamental principle underlying MIA is that inflammation during pregnancy impedes fetal brain development and triggers behavioural alterations in offspring. The intricate pathogenesis of ASD renders drug treatment effects unsatisfactory. Traditional Chinese medicine has strong potential due to its multiple therapeutic targets. Yigansan, composed of seven herbs, is one of the few that has been proven to be effective in treating neuro-psychiatric disorders among numerous traditional Chinese medicine compounds, but its therapeutic effect on ASD remains unknown. HYPOTHESIS: Yigansan improves MIA-induced ASD-like behaviours in offspring by regulating the IL-17 signalling pathway. METHODS: Pregnant C57BL/6J mice were intraperitoneally injected with poly(I:C) to construct MIA models and offspring ASD models. Network analysis identified that the IL-17A/TRAF6/MMP9 pathway is a crucial pathway, and molecular docking confirmed the binding affinity between the monomer of Yigansan and target proteins. qRT-PCR and Western blot were used to detect the expression levels of inflammatory factors and pathway proteins, immunofluorescence was used to detect the distribution of IL-17A, and behavioural tests were used to evaluate the ASD-like behaviours of offspring. RESULTS: We demonstrated that Yigansan can effectively alleviate MIA-induced neuroinflammation of adult offspring by regulating the IL-17A/TRAF6/MMP9 pathway, and the expression of IL-17A was reduced in the prefrontal cortex. Importantly, ASD-like behaviours have been significantly improved. Moreover, we identified that quercetin is the effective monomer for Yigansan to exert therapeutic effects. CONCLUSION: Overall, this study was firstly to corroborate the positive therapeutic effect of Yigansan in the treatment of ASD. We elucidated the relevant molecular mechanism and regulatory pathway involved, determined the optimal therapeutic dose and effective monomer, providing new solutions for the challenges of drug therapy for ASD.

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9. Klein AZ, Gutiérrez Gómez JA, Levine LD, Gonzalez-Hernandez G. Using Longitudinal Twitter Data for Digital Epidemiology of Childhood Health Outcomes: An Annotated Data Set and Deep Neural Network Classifiers. J Med Internet Res. 2024; 26: e50652.

We manually annotated 9734 tweets that were posted by users who reported their pregnancy on Twitter, and used them to train, evaluate, and deploy deep neural network classifiers (F(1)-score=0.93) to detect tweets that report having a child with attention-deficit/hyperactivity disorder (678 users), autism spectrum disorders (1744 users), delayed speech (902 users), or asthma (1255 users), demonstrating the potential of Twitter as a complementary resource for assessing associations between pregnancy exposures and childhood health outcomes on a large scale.

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10. MacDowell CJ, Briones BA, Lenzi MJ, Gustison ML, Buschman TJ. Differences in the expression of cortex-wide neural dynamics are related to behavioral phenotype. Curr Biol. 2024; 34(6): 1333-40.e6.

Behavior differs across individuals, ranging from typical to atypical phenotypes.(1) Understanding how differences in behavior relate to differences in neural activity is critical for developing treatments of neuropsychiatric and neurodevelopmental disorders. One hypothesis is that differences in behavior reflect individual differences in the dynamics of how information flows through the brain. In support of this, the correlation of neural activity between brain areas, termed « functional connectivity, » varies across individuals(2) and is disrupted in autism,(3) schizophrenia,(4) and depression.(5) However, the changes in neural activity that underlie altered behavior and functional connectivity remain unclear. Here, we show that individual differences in the expression of different patterns of cortical neural dynamics explain variability in both functional connectivity and behavior. Using mesoscale imaging, we recorded neural activity across the dorsal cortex of behaviorally « typical » and « atypical » mice. All mice shared the same recurring cortex-wide spatiotemporal motifs of neural activity, and these motifs explained the large majority of variance in cortical activity (>75%). However, individuals differed in how frequently different motifs were expressed. These differences in motif expression explained differences in functional connectivity and behavior across both typical and atypical mice. Our results suggest that differences in behavior and functional connectivity are due to changes in the processes that select which pattern of neural activity is expressed at each moment in time.

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11. Mattioni L, Barbieri A, Grigoli A, Balasco L, Bozzi Y, Provenzano G. Alterations of perineuronal net expression and abnormal social behavior and whisker-dependent texture discrimination in mice lacking the autism candidate gene Engrailed 2. Neuroscience. 2024.

GABAergic interneurons and perineuronal nets (PNNs) are important regulators of plasticity throughout life and their dysfunction has been implicated in the pathogenesis of several neuropsychiatric conditions, including autism spectrum disorders (ASD). PNNs are condensed portions of the extracellular matrix (ECM) that are crucial for neural development and proper formation of synaptic connections. We previously showed a reduced expression of GABAergic interneuron markers in the hippocampus and somatosensory cortex of adult mice lacking the Engrailed2 gene (En2-/- mice), a mouse model of ASD. Since alterations in PNNs have been proposed as a possible pathogenic mechanism in ASD, we hypothesized that the PNN dysfunction may contribute to the neural and behavioral abnormalities of En2-/- mice. Here, we show an increase in the PNN fluorescence intensity, evaluated by Wisteria floribunda agglutinin, in brain regions involved in social behavior and somatosensory processing. In addition, we found that En2-/- mice exhibit altered texture discrimination through whiskers and display a marked decrease in the preference for social novelty. Our results raise the possibility that altered expression of PNNs, together with defects of GABAergic interneurons, might contribute to the pathogenesis of social and sensory behavioral abnormalities.

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12. Molins F, Ben-Hassen Jemni N, Garrote-Petisco D, Serrano M. Highly logical and non-emotional decisions in both risky and social contexts: understanding decision making in autism spectrum disorder through computational modeling. Cogn Process. 2024.

In risky contexts, autism spectrum disorder (ASD) individuals exhibit more logical consistency and non-emotional decisions than do typical adults (TAs). This way of deciding could be also prevailing in social contexts, leading to maladaptive decisions. This evidence is scarce and inconsistent, and further research is needed. Recent developments in computational modeling allow analysis of decisional subcomponents that could provide valuable information to understand the decision-making and help address inconsistencies. Twenty-seven individuals with ASD and 25 TAs were submitted to a framing-task and the ultimatum game (UG). The Rescorla-Wagner computational model was used to analyze UG decisions. Results showed that in the UG, the ASD group exhibited a higher utilitarianism, characterized by lower aversion to unfairness and higher acceptance of offers. Moreover, this way of deciding was predicted by the higher economic rationality found in the framing task, where people with ASD did not manifest emotional biases such as framing effect. These results could suggest an atypical decision making, highly logical and non-emotional, as a robust feature of ASD.

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13. Nae A, Thong G, Rowley H, Colreavy M. Clinical utility of ABR testing under general anaesthesia in Autistic children. Ir Med J. 2024; 117(3): 927.

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14. Nayak A, Khuntia R. Development and Content Validation of a Measure to Assess the Parent-Child Social-emotional Reciprocity of Children with ASD. Indian J Psychol Med. 2024; 46(1): 66-71.

BACKGROUND: As no scales are currently available to assess the social-emotional reciprocity (SER) between children with autism spectrum disorder (ASD) and their parents, we aimed to develop a questionnaire for this. METHODS: Both quantitative and qualitative techniques were used for content validation. All stages of this study used purposive sampling to choose various groups of experts, mental health professionals, and parents of children with ASD to participate in the development, judgment-quantifying, and pretest stages. Data from 30 parents of children with ASD were gathered for the field test. RESULTS: Thirty items were retained after content validation. The proportion of consensus regarding the comprehensiveness of the entire questionnaire was 1.00. The scale-level content validity index (CVI) by averaging calculation method and universal agreement calculation method were 0.95 and 0.50, respectively. Following the pretest, a total of 23 questions, on a five-point scale, were retained. CONCLUSION: Given the significance of SER between children with ASD and their parents, mental health practitioners should use this questionnaire to understand it to maximize the efficacy of any intervention.

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15. Pantalone G, Mancardi MM, Rossi A, Romanelli R, Marasco E, Carla M. A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis. Am J Med Genet A. 2024: e63611.

The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES – trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c.4880del, D1627Vfs*17), with a truncating effect on the protein. This case report thus expands the phenotypic spectrum of MED13-related disorders to include brain abnormalities.

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16. Pourmotahari F, Borumandnia N, Tabatabaei SM, Alavimajd H. Secondary analysis: Graph analysis of brain connectivity network in autism spectrum disorder. J Res Med Sci. 2024; 29: 2.

BACKGROUND: Autism spectrum disorder is a neurodevelopmental condition in which impaired connectivity of the brain network. The functional magnetic resonance imaging (fMRI) technique can provide information on the early diagnosis of autism by evaluating communication patterns in the brain. The present study aimed to assess functional connectivity (FC) variations in autism patients. MATERIALS AND METHODS: Resting-state fMRI data were obtained from the « ABIDE » website. These data include 294 autism patients with a mean (standard deviation) age of 16.49 (7.63) and 312 healthy individuals with a mean (standard deviation) age of 15.98 (6.31). In this study, changes in communication patterns across different brain regions in autism patients were investigated using graph-based models. RESULTS: The FC cluster of 17 regions in the brain, such as the hippocampus, cuneus, and inferior temporal, was different between the patient and healthy groups. Based on connectivity analysis of pair regions, 36 of the 136 correlations in the cluster were significantly different between the two groups. The middle temporal gyrus had more communication than the other regions. The largest difference between groups was – 0.112, which corresponding to the right middle temporal and right thalamus regions. CONCLUSION: The findings of this study revealed functional relationship alterations in patients with autism compared to healthy individuals, indicating the disease’s effects on the brain connectivity network.

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17. Prem S, Dev B, Peng C, Mehta M, Alibutud R, Connacher RJ, St Thomas M, Zhou X, Matteson P, Xing J, Millonig JH, DiCicco-Bloom E. Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells. Elife. 2024; 13.

Autism spectrum disorder (ASD) is defined by common behavioral characteristics, raising the possibility of shared pathogenic mechanisms. Yet, vast clinical and etiological heterogeneity suggests personalized phenotypes. Surprisingly, our iPSC studies find that six individuals from two distinct ASD-subtypes, idiopathic and 16p11.2 deletion, have common reductions in neural precursor cell (NPC) neurite outgrowth and migration even though whole genome sequencing demonstrates no genetic overlap between the datasets. To identify signaling differences that may contribute to these developmental defects, an unbiased phospho-(p)-proteome screen was performed. Surprisingly despite the genetic heterogeneity, hundreds of shared p-peptides were identified between autism subtypes including the mTOR pathway. mTOR signaling alterations were confirmed in all NPCs across both ASD-subtypes, and mTOR modulation rescued ASD phenotypes and reproduced autism NPC associated phenotypes in control NPCs. Thus, our studies demonstrate that genetically distinct ASD subtypes have common defects in neurite outgrowth and migration which are driven by the shared pathogenic mechanism of mTOR signaling dysregulation.

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18. Sawada Y, Sakamoto K, Tsukamura A, Sawai C. Vitamin B12 deficiency-induced megaloblastic anemia in a pediatric patient with autism spectrum disorder with a chronically unbalanced diet. Int J Hematol. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common among children with ASD because of their persnickety nature. A prolonged unbalanced diet results in an increased risk of several diseases, such as iron deficiency anemia, scurvy, rickets, dry eye, and Wernicke encephalopathy. However, no cases of megaloblastic anemia have been reported to date. We report the case of an 11-year-old boy with ASD who developed megaloblastic anemia due to vitamin B12 deficiency. He had a prolonged history of selective eating for more than 10 years. His nutritional status on admission was poor, and he had low weight and short stature. His food selectivity was so strong that intervention to expand diet variety was unsuccessful. A developmental-behavioral pediatrician found that the patient had visual dominance and could take some medications when suffering from a minor illness. Nutritional supplements were selected after consultation with a nutritionist. Although compulsory treatment was necessary during the acute phase, the therapy was continued at home. With multidisciplinary intervention tailored to the patient and his parents’ characteristics, his nutritional status improved in a few months.

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19. Sommers L, Papadopoulos N, Fuller-Tyszkiewicz M, Sciberras E, McGillivray J, Howlin P, Rinehart N. The Connection Between Sleep Problems and Emotional and Behavioural Difficulties in Autistic Children: A Network Analysis. J Autism Dev Disord. 2024.

The interactions between sleep problems, autism symptoms and emotional and behavioural difficulties were explored using network analysis in 240 autistic children (mean age: 8.8 years, range 5-13 years) with moderate to severe sleep problems. Findings revealed a highly connected and interpretable network, with three separate clusters identified of the modelled variables. Depression, anxiety and behavioural difficulties were the most central variables of the network. Depression, anxiety and restricted repetitive and stereotyped patterns behaviours (RRBs) were the strongest bridging variables in the network model, transmitting activation both within and between other symptom clusters. The results highlight that depression and anxiety were highly connected symptoms within the network, suggesting support in these areas could be helpful, as well as future research.

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20. Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M. Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants – case report and literature review. Ann Agric Environ Med. 2024; 31(1): 147-50.

There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 patients have been presented with mutated CDK13 gene. Those patients had developmental delay, dysmorphic facial features, feeding difficulties, different structural heart and brain defects. 36 of them had missense mutation affecting the protein kinase domain of CDK13. Our patient is the first person reported so far with a frameshift mutation which introduce premature stop codon in the first exon of the CDK13 gene. She has symptoms characteristic for congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD).

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21. Zadok N, Ast G, Sharan R. A network-based method for associating genes with autism spectrum disorder. Front Bioinform. 2024; 4: 1295600.

Autism spectrum disorder (ASD) is a highly heritable complex disease that affects 1% of the population, yet its underlying molecular mechanisms are largely unknown. Here we study the problem of predicting causal genes for ASD by combining genome-scale data with a network propagation approach. We construct a predictor that integrates multiple omic data sets that assess genomic, transcriptomic, proteomic, and phosphoproteomic associations with ASD. In cross validation our predictor yields mean area under the ROC curve of 0.87 and area under the precision-recall curve of 0.89. We further show that it outperforms previous gene-level predictors of autism association. Finally, we show that we can use the model to predict genes associated with Schizophrenia which is known to share genetic components with ASD.

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22. Zhou X, Lin WS, Zou FY, Zhong SS, Deng YY, Luo XW, Shen LS, Wang SH, Guo RM. Biomarkers of preschool children with autism spectrum disorder: quantitative analysis of whole-brain tissue component volumes, intelligence scores, ADOS-CSS, and ages of first-word production and walking onset. World J Pediatr. 2024.

BACKGROUND: Preschooling is a critical time for intervention in children with autism spectrum disorder (ASD); thus, we analyzed brain tissue component volumes (BTCVs) and clinical indicators in preschool children with ASD to identify new biomarkers for early screening. METHODS: Eighty preschool children (3-6 years) with ASD were retrospectively included. The whole-brain myelin content (MyC), white matter (WM), gray matter (GM), cerebrospinal fluid (CSF), and non-WM/GM/MyC/CSF brain component volumes were obtained using synthetic magnetic resonance imaging (SyMRI). Clinical data, such as intelligence scores, autism diagnostic observation schedule-calibrated severity scores, age at first production of single words (AFSW), age at first production of phrases (AFP), and age at walking onset (AWO), were also collected. The correlation between the BTCV and clinical data was evaluated, and the effect of BTCVs on clinical data was assessed by a regression model. RESULTS: WM and GM volumes were positively correlated with intelligence scores (both P < 0.001), but WM and GM did not affect intelligence scores (P = 0.116, P = 0.290). AWO was positively correlated with AFSW and AFP (both P < 0.001). The multivariate linear regression analysis revealed that MyC, AFSW, AFP, and AWO were significantly different (P = 0.005, P < 0.001, P < 0.001). CONCLUSIONS: This study revealed positive correlations between WM and GM volumes and intelligence scores. Whole-brain MyC affected AFSW, AFP, and AWO in preschool children with ASD. Noninvasive quantification of BTCVs via SyMRI revealed a new visualizable and quantifiable biomarker (abnormal MyC) for early ASD screening in preschool children.

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