1. Alzakari SA, Allinjawi A, Aldrees A, Zamzami N, Umer M, Innab N, Ashraf I. Early detection of autism spectrum disorder using explainable AI and optimized teaching strategies. J Neurosci Methods. 2024: 110315.

The neurological condition known as an autism spectrum disorder (ASD) is typified by marked impairments in social interaction, language understanding, object identification, cognitive capacities, and communication abilities. The majority of ASD cases are genetically based, however, early identification and treatment can reduce the need for drawn-out medical care and intricate diagnostic procedures. The varied nature of ASD is widely acknowledged, with each affected individual displaying distinct traits. The variability among autistic children underscores the challenge of identifying effective teaching strategies, as what works for one child may not be suitable for another. In this study, we merge two ASD screening datasets focusing on toddlers. We employ three feature engineering techniques to extract significant features from the dataset to enhance model performance. This study presents an innovative two-phase method where initially, we employ diverse machine learning models, such as a combination of logistic regression and support vector machine classifiers. The focus of the second phase is on identifying tailored educational methods for children with ASD through the assessment of their behavioral, verbal, and physical responses. The main goal of this study is to develop personalized educational strategies for individuals with ASD. This will be achieved by employing machine learning techniques to enhance precision and better meet their unique needs. Experimental results achieve a classification accuracy of 94% in ASD identification using Chi-square extracted features. Concerning the choice of the best teaching approach for ASD children, the proposed approach shows 99.29% accuracy. Performance comparison with existing studies shows the superior performance of the proposed LR-SVM ensemble coupled with Chi-square features. In conclusion, the proposed approach provides a two-phase strategy for identifying ASD children and offering a suitable teaching strategy with respect to the severity of the ASD, thereby potentially contributing to the development of tailored solutions for children with varying needs.

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2. Li C, Wang Y, Zeng C, Huang B, Chen Y, Xue C, Liu L, Rong S, Lin Y. Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay. Sci Rep. 2024; 14(1): 27590.

Understanding the genetic basis of developmental delay (DD) and intellectual disability (ID) remains a considerable clinical challenge. This study evaluated the clinical application of trio whole exome sequencing (WES) in children diagnosed with DD/ID. The study comprised 173 children with unexplained DD/ID. The participants underwent trio-WES and their demographic, clinical, and genetic characteristics were evaluated. Based on their clinical features, the participants were classified into two groups for further analysis: a syndromic DD/ID group and a non-syndromic DD/ID group. The genetic diagnostic yield of the 173 children diagnosed with DD/ID was 49.7% (86/173). This included 58 pathogenic or likely pathogenic single nucleotide variants (SNVs) in 41 genes identified across 54 individuals (31.2%) through trio-WES. Among these, 22 SNVs had not been previously reported. Additionally, 30 copy number variations (CNVs) were detected in 36 individuals (20.8%). The diagnostic yield in the syndromic DD/ID group was higher than that in the non-syndromic DD/ID group (57.8% vs. 47.2%, P < 0.001). Within the syndromic DD/ID subgroup, the diagnostic yield of the DD/ID with epilepsy subgroup (83.9%) was significantly higher than those of the other subgroups (P < 0.001). Based on the analysis of the individuals' clinical phenotypes, the individuals with facial dysmorphism shown a higher diagnostic yield (68.2%, P < 0.001). The diagnostic yield of SNVs was higher in the individuals with DD/ID accompanied by epilepsy, whereas the diagnostic yield of CNVs was higher in the DD/ID without epilepsy group. Similarly, the diagnostic yield of de novo SNVs was higher in the DD/ID with epilepsy group, while the diagnostic yield of de novo CNVs was higher in the DD/ID without epilepsy group (all P < 0.001). Trio-WES is a crucial tool for the genetic diagnosis of DD/ID, demonstrating a diagnostic yield of up to 49.7%. De novo variants in autosomal dominant genes are significant contributors to DD/ID, particularly in non-consanguineous families.

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3. Li HZ, Wen S, Huang ZH, Fei HW, Zhang CJ. A prediction model of echocardiographic variables to screen for potentially correctable shunts in adult ASD-PAH patients. J Chin Med Assoc. 2024.

BACKGROUND: Atrial septal defect (ASD) is a prevalent congenital heart condition in adults that leads to pulmonary hypertension (PAH) and right heart failure if left untreated. During a routine follow-up of adult ASD-PAH patients, the suitability of shunt closure depends on the invasive right heart catheterization (RHC).Nevertheless, performing RHC at every follow-up is impractical and may be harmful. The present retrospective cross-sectional study was designed to investigate which echocardiographic variables are related to pulmonary vascular resistance (PVR) in adult ASD-PAH patients and proposed a model using these variables to screen for patients with a correctable shunt. METHODS: A total of 530 adult ASD-PAH patients with pulmonary arterial systolic pressure (PASP) of ≥60 mmHg measured using transthoracic echocardiogram (TTE) were included in the study. All RHCs were performed within 3 months after TTE. The correctable shunt was defined as PVR ≤3 wood units (WU). Multivariate regressions were performed utilizing echocardiographic variables. A scoring system was constructed based on the predictors of PVR ≤3 WU using multivariate logistic regression analysis. The scoring system was then examined using a receiver operating characteristic (ROC) analysis. In addition, clinical utility of the model was determined based on decision curve analysis and a calibration curve was used to evaluate model conformity. RESULTS: Estimated pulmonary arterial systolic pressure, velocity through the pulmonary valve, tricuspid annulus early diastolic velocity, and maximum defect dimension were identified as independent predictors. The area under the ROC curve of the predictive value in the model was 0.905 [95% confidence interval (CI): 0.878-0.931, sensitivity: 84.3%, specificity: 83.6%]. The net benefit of the model was notable in terms of a wide-range probability threshold in decision curve analysis, indicating that the prediction model had good clinical applicability. The model’s calibration curve was close to an ideal diagonal line, showing good predictive accuracy between the actual and predictive probabilities. CONCLUSION: The study model was demonstrated to be valuable in predicting adult ASD-PAH patients with a correctable shunt, which may help clinicians to make appropriate treatment decision for follow-up patients.

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4. Manghi P, Filosi M, Zolfo M, Casten LG, Garcia-Valiente A, Mattevi S, Heidrich V, Golzato D, Perini S, Thomas AM, Montalbano S, Cancellieri S, Waldron L, Hall JB, Xu S, Volfovsky N, Green Snyder L, Feliciano P, Asnicar F, Valles-Colomer M, Michaelson JJ, Segata N, Domenici E. Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders. Nat Commun. 2024; 15(1): 9743.

The link between the oral microbiome and neurodevelopmental disorders remains a compelling hypothesis, still requiring confirmation in large-scale datasets. Leveraging over 7000 whole-genome sequenced salivary samples from 2025 US families with children diagnosed with autism spectrum disorders (ASD), our cross-sectional study shows that the oral microbiome composition can discriminate ASD subjects from neurotypical siblings (NTs, AUC = 0.66), with 108 differentiating species (q < 0.005). The relative abundance of these species is highly correlated with cognitive impairment as measured by Full-Scale Intelligence Quotient (IQ). ASD children with IQ < 70 also exhibit lower microbiome strain sharing with parents (p < 10(-6)) with respect to NTs. A two-pronged functional enrichment analysis suggests the contribution of enzymes from the serotonin, GABA, and dopamine degradation pathways to the distinct microbial community compositions observed between ASD and NT samples. Although measures of restrictive eating diet and proxies of oral hygiene show relatively minor effects on the microbiome composition, the observed associations with ASD and IQ may still represent unaccounted-for underlying differences in lifestyle among groups. While causal relationships could not be established, our study provides substantial support to the investigation of oral microbiome biomarkers in ASD.

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5. Mbachu CNP, Nwibo NL, Onyejiaka CL, Umeugoji CP, Ele CV, Nnorum SC, Onah SK, Obichukwu NG, Ezechukwu CC, Ebenebe JC. POINT-OF-CARE DEVELOPMENTAL SCREENING IN THE CHILDREN’S EMERGENCY ROOM: A PRELIMINARY REPORT. West Afr J Med. 2024; 41(11 Suppl 1): S18.

BACKGROUND: Developmental delays in children are often missed during routine medical visits, leading to long-term consequences if undetected. The Children’s Emergency Room (CHER) offers a unique opportunity for early screening, serving as a frequent contact point for families. This study aimed to assess the developmental profiles of children presenting to CHER at NAUTH, Nnewi, Anambra State, Nigeria, emphasizing the need for early intervention. METHODS: In this cross-sectional, mixed-methods study, children aged 0-5.5 years presenting to CHER over one month were screened using the Ages and Stages Questionnaire (ASQ-3). Data analysis was conducted using STATA 16.0, and children with identified developmental delays were referred to the Developmental and Behavioural Paediatrics (DBP) clinic. Interviews with healthcare providers and caregivers explored the feasibility of implementing routine screening in CHER. RESULTS: Out of 34 children screened, 55.9% (19/34) displayed developmental delays, with problem-solving and fine motor skills being the most affected (29.4% each). Global developmental delay was identified in 32.4% (11/34). Female children had significantly higher communication delays than males (29.4% vs. 0%, p=0.044). Sixty percent of healthcare providers believed screening would be feasible with additional training and resources. CONCLUSION: The high prevalence of developmental delays, particularly in girls’ communication skills, highlights the need for early detection. With adequate training and resources, integrating developmental screening into CHER could significantly enhance early intervention efforts and address the unmet needs of children in resource-limited settings.

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6. Mishra A, Lin H, Singla R, Le N, Oraebosi M, Liu D, Cao R. Circadian desynchrony in early life leads to enduring autistic-like behavioral changes in adulthood. Commun Biol. 2024; 7(1): 1485.

Circadian rhythm regulates a variety of biological processes in almost all living organisms. Modern lifestyles, e.g. transmeridian travel, night shift, light at night, etc., frequently disrupt people’s regular sleep-wake cycles and create a misalignment (circadian desynchrony) between the natural environment and the endogenous body clock, and between different circadian oscillators within the body. The long-term consequences of circadian desynchrony on neurodevelopment and adult behavior remain elusive. Increasing clinical evidence supports a correlation between the disruption of the circadian system and neurodevelopmental disorders, such as autism spectrum disorders. Despite clinical correlations, experimental evidence is yet to establish a link between circadian disturbance in early life and adult behavioral changes. Here, using a « short day » (SD) mouse model, in which mice were exposed to an 8 h/8 h light/dark (LD) cycle mimicking a « shift work » schedule from gestation day 1 to postnatal day 21, we performed a battery of behavioral tests to assess changes in adult behaviors, including sociability, affective behaviors, stereotypy, cognition and locomotor functions. In contrast to the control mice kept in a 12 h/12 h LD cycle, the adult SD mice entrained to the 8 h/8 h LD cycle, but their free running rhythms remained normal in constant darkness. Interestingly, however, the SD mice displayed diminished sociability, a reduced preference for social novelty, excessive repetitive behaviors, and compromised cognitive functions, all of which resemble characteristics of autism-like behavioral alterations. In addition, the SD mice exhibited significant anxiety- and depressive-like behaviors and impaired motor functions. By western blotting and immunostaining analyses, hyperactivation of the mTORC1/S6K1 pathway was detected in multiple forebrain regions of SD mice. These findings underscore the enduring impact of early-life circadian disruption on neurochemical signaling and behavioral patterns into adulthood, highlighting a pivotal role for circadian regulation in neurodevelopment.

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7. Ning H, Chai Y, Huang W, Wang Y. [Analysis of EEF1A2 gene variant in a child with Global developmental delay]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(11): 1308-15.

OBJECTIVE: To summarize the clinical manifestations of Autosomal dominant complex neurodevelopmental disorders due to variants of EEF1A2 gene and explore their pathogenic mechanisms. METHODS: A child who had visited Luoyang Maternal and Child Health Care Hospital in July 2021 for global developmental delay was selected as the study subject. Clinical data of the child was reviewed. The child was subjected to whole exome sequencing, and relevant literature was reviewed. This study has been approved by the Medical Ethics Committee of Luoyang Maternal and Child Health Care Hospital (No. YCCZ-KS-KY-2021-03). RESULTS: The patient, a 2-year-and-4-month-old girl, had presented with global developmental delay, gait instability, low limb muscle strength, and absence language development. Her parents were both healthy and denied relevant family history. Genetic testing revealed that she has harbored a de novo heterozygous c.44A>G (p.H15R) missense variant of the EEF1A2 gene (NM_001958.5), which was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic. CONCLUSION: The c.44A>G (p.H15R) variant of the EEF1A2 gene probably underlay the pathogenesis in this patient. Above finding has also enriched the mutational spectrum of the EEF1A2 gene.

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8. Saleh MG, Bloy L, Blaskey L, Roberts TPL. GABA and glutamate measurements in temporal cortex of autistic children. Autism Res. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder and presents with challenges in social communication. A hypothesized underlying contributing mechanism is the imbalance in excitation and inhibition (E/I), partly influenced by the levels of excitatory neurotransmitter glutamate (Glu) and inhibitory neurotransmitter γ-aminobutyric acid (GABA) in the brain. Although many have reported the levels of GABA and Glu in the brain, only a few reports address the temporal cortex and then only with a small sample of autistic children, and often only in one hemisphere. We used a macromolecular suppressed edited-magnetic resonance spectroscopy (MRS) sequence to study GABA and Glu (as potential key players influencing E/I) in a large sample of children with ASD in the right and left temporal cortices of children with (N = 56) and without (N = 30) ASD (7-18 years). As a group, children with ASD exhibited no differences in the left hemisphere (GABA and Glu Cohen’s |d|: 0.24 and 0.03), but the right hemisphere showed higher GABA and lower Glu concentrations (GABA and Glu Cohen’s |d|: 0.53 and 0.65) compared to neurotypicals. Furthermore, a negative association was found between the right hemisphere Glu levels of the ASD group and a clinical assessment tool (r = -0.361, p = 0.022), reflecting autism trait severity (social responsiveness scale). In conclusion, we highlight the chemical abnormalities in children with ASD through a cross-sectional measurement. Longitudinal studies are warranted to determine whether these chemical levels persist or resolve over development.

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9. Schelinski S, Kauffmann L, Tabas A, Müller-Axt C, von Kriegstein K. Functional alterations of the magnocellular subdivision of the visual sensory thalamus in autism. Proc Natl Acad Sci U S A. 2024; 121(47): e2413409121.

The long-standing hypothesis that autism is linked to changes in the visual magnocellular system of the human brain has never been directly examined due to technological constraints. Here, we used a recently developed 7-Tesla functional MRI (fMRI) approach to investigate this hypothesis within the visual sensory thalamus (lateral geniculate nucleus, LGN). The LGN is a crucial component of the primary visual pathway. It is particularly suited to investigate the magnocellular visual system, because within the LGN, the magnocellular (mLGN) uniquely segregates from the parvocellular (pLGN) system. Our results revealed diminished mLGN blood-oxygenation-level-dependent (BOLD) responses in the autism group compared to controls. pLGN responses were comparable across groups. The mLGN alterations were observed specifically for stimuli optimized for mLGN function, i.e., visual displays with low spatial frequency and high temporal flicker frequency. The results confirm the long-standing hypothesis of magnocellular visual system alterations in autism. They substantiate the emerging perspective that sensory processing variations are part of autism symptomatology.

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10. Wang B, Zhang X, Li Y, Liu T, Li L, Meng Q. [Genetic analysis of a child with Malan syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(11): 1330-4.

OBJECTIVE: To explore the genetic basis of a child with mental retardation and developmental delay. METHODS: A child who had attended the genetic clinic of Linyi People’s Hospital from October 2023 to April 2024 was selected as the study subject. Intelligence and development were assessed with simplified Peabody scale. Electroencephalogram and imaging data were collected. Peripheral blood samples of the child and her parents were collected for the screening of genetic metabolic diseases, chromosomal karyotyping, and trio-whole genome sequencing (trio-WGS) analysis. Candidate variant was verified by Sanger sequencing, and RNAseq was carried out to verify the alternative splicing due to the candidate variant. This study has been approved by the Medical Ethics Committee of Linyi People’s Hospital (No. YX200083). RESULTS: The patient was an 8-year-and-11-month-old girl. Both of her parents had normal phenotypes. The child was assessed by the simplified Peabody scale as having intellectual disability and developmental delay. MRI showed no definite abnormal signals within the brain parenchyma, and electroencephalogram was normal. Screening of genetic metabolic diseases showed no obvious abnormality. Chromosomal karyotype was normal. Trio-WGS has detected a c.697+1G>A variant in the intron 4 of the NFIX gene, along with 9 other variants within eight genes. The c.697+1G>A variant may cause abnormal splicing of the NFIX gene transcript. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.697+1G>A variant was predicted to be pathogenic (PVS1+PS2+PM2_Supporting), while the evidence for pathogenicity of the other 9 variants was insufficient. CONCLUSION: The novel de novo c.697+1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

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11. Wang C, Shi P, Liu L, Zhao X, Kong X. [Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(11): 1290-5.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with Fragile X syndrome (FXS) through Nanopore long-read sequencing. METHODS: A FXS pedigree who had undergone genetic counseling at the First Affiliated Hospital of Zhengzhou University in April 2023 was selected as the study subject. Nanopore long-read sequencing, triplet-repeat primed PCR (TP-PCR), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and trinucleotide polymorphism genotyping of androgen receptor (AR) gene were used to analyze the FMR1 CGG repeat number, methylation, and X chromosome inactivation of the pedigree members. This study has been approved by the Medical Ethics Committee of the First Affiliated Hospital of Zhengzhou University (No. KS-2018-KY-36). RESULTS: Full mutation and CpG island hypermethylation were detected in the proband. The elder sister of the proband had full mutation of the FMR1 gene on one X chromosome and hypermethylation of CpG island, while the FMR1 gene on the other X chromosome was normal. FMR1 premutation was detected in the proband’s mother. CONCLUSION: Nanopore long-read sequencing can simultaneously detect the dynamic mutation and methylation status of the FMR1 gene on the two X chromosomes of females, which has important value for the diagnosis of FXS in different genders.

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12. Wang W, Yang Y, Song C, Liu Q, Mu R, Yu D. Suicidal risk among Chinese parents of autistic children and its association with perceived discrimination, affiliate stigma and social alienation. BMC Psychiatry. 2024; 24(1): 784.

BACKGROUND: Caring for autistic children becomes challenging and may lead to negative psychological outcomes, even increasing the suicide risk (SR). Researchers have studied the SR among parents of autistic children in Western nations, but little is known about it in China and how it relates to perceived discrimination (PD), affiliate stigma (AS), and social alienation (SA). The current study aimed to reveal the SR prevalence rate among Chinese parents of autistic children, and clarify whether AS and SA may play mediating roles in the association between SR and PD. METHODS: A total of 645 Chinese parents of autistic children were recruited to complete a series of scales to evaluate SR, SA, AS, and PD using the Suicidal Behaviors Questionnaire-Revised (SBQ-R), Perceived Discrimination Scale for Parents of Children with Autism Spectrum Disorders (PDS-FP), Affiliate Stigma Scale (ASS), and General Social Alienation Scale (GSAS), respectively. Then, the SR prevalence rate among Chinese parents of autistic children was evaluated; and the multiple mediation analysis and structural equation modeling with the bootstrap method were conducted to test the mediating effects of AS and SA in the association between SR and PD. RESULTS: 34.6% Chinese parents of autistic children had high SR. In particular, the incidence rate of suicide ideation, suicide plans, suicide attempts, and suicide likelihood during the previous year were 49.8%, 11.9%, 2.5%, and 13.8%, respectively. Additionally, PD was positively associated with SR (r = .40, p < .01); and AS and SA showed significant mediating effects on the association between PD and SR (p < .01). CONCLUSIONS: The current study evaluated the SR prevalence rate among Chinese parents of autistic children, and clarified the mediating effects of AS and SA in the association between SR and PD. Findings might bring new insights and guidance for intervention of suicidality among Chinese parents of autistic children.

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13. Zareh M, Toulabinejad E, Manshaei MH, Zahabi SJ. A deep learning model of dorsal and ventral visual streams for DVSD. Sci Rep. 2024; 14(1): 27464.

Artificial intelligence (AI) methods attempt to simulate the behavior and the neural activity of the brain. In particular, Convolutional Neural Networks (CNNs) offer state-of-the-art models of the ventral visual stream. Furthermore, no proposed model estimates the distance between objects as a function of the dorsal stream. In this paper, we present a quantitatively accurate model for the visual system. Specifically, we propose a VeDo-Net model that comprises both ventral and dorsal branches. As in the ventral visual stream, our model recognizes objects. The model also locates and estimates the distance between objects as a spatial relationship task performed by the dorsal stream. One application of the proposed model is in the simulation of visual impairments. In this study, however, we show how the proposed model can simulate the occurrence of dorsal stream impairments such as Autism Spectrum Disorder (ASD) and cerebral visual impairment (CVI). In the end, we explore the impacts of learning on the recovery of the synaptic disruptions of the dorsal visual stream. Results indicated a direct relationship between the positive and negative changes in the weights of the dorsal stream’s last layers and the output of the dorsal stream under an allocentric situation. Our results also demonstrate that visual-spatial perception impairments in ASD may be caused by a disturbance in the last layers of the dorsal stream.

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14. Zheng A, Yin T, Zheng Q, Zhang R, Wang Y, Ma S, Zhao Y, Wang L. [Clinical phenotype and genetic analysis of a child with partial duplication of 10q and a literature review]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024; 41(11): 1371-8.

OBJECTIVE: To explore the clinical phenotype and pathogenesis of a child with partial duplication in the long arm of chromosome 10 (10q), and conduct a review of relevant literature. METHODS: A child presented at Lianyungang Maternal and Child Health Care Hospital in April 2018 for growth retardation, intellectual disability, and autism spectrum disorder (ASD) was selected as the study subject. Peripheral blood samples were collected from the child and his parents for G-banded chromosomal karyotyping analysis. Genomic DNA was also extracted for chromosomal microarray analysis (CMA). The clinical phenotype and relevant genes were searched in the Online Mendelian Inheritance in Man (OMIM) and the UK Database of Genomic Variation and Phenotype in Humans using Ensembl Resources (DECIPHER). The pathogenicity of chromosomal variation was analyzed based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Relevant literature was searched from the CNKI, Wanfang Data, and PubMed databases by using keywords such as « 10q » « duplication » and « trisomy », with the time set as from the establishment of database to December 1, 2023. This study has been approved by the Medical Ethics Committee of the Lianyungang Maternal and Child Health Care Hospital (No. XM2023030). RESULTS: The clinical phenotype of child had included growth retardation, intellectual disability, and ASD. G-banded chromosomal analysis suggested that the child has a karyotype of 46,XY,dup(10)(q23.31q24.33), whilst both of his parents were normal. CMA analysis of the child revealed that the child was arr[19]10q23.31q24.33(87603382_104948862)×3, with a 17.34 Mb duplication in the 10q23.31q24.33 region. Search of the OMIM database suggested that the duplicated segment has contained 171 genes associated with various diseases, and search of the DECIPHER database has identified cases with overlapping with the duplication. A search of the PubMed database has identified 2 publications involving 2 patients with chromosomal duplications overlapping the 10q23.31q24.33 region with a segment length of > 10 Mb. The 2 patients had mainly manifested growth retardation, intellectual disability, ASD, and facial and limb malformations. The main pathogenic genes had included PTEN, WNT8B, LZTS2, NFKB2, PAX2, KIF11, FRA10AC1, and CNNM2. No similar case was retrieved from the CNKI and Wanfang Data databases. CONCLUSION: The partial 10q duplication as a novel CNV involving genes such as PTEN and WNT8B probably underlay the growth retardation, intellectual disability and ASD in child 1 . This study has enriched the genotype-phenotype spectrum of patients with partial 10q23.31q24.33 duplications.

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