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. 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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3. 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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4. 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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5. 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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6. 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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7. 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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