Objective: To describe patterns of feeding difficulties and behaviors of Filipino children diagnosed with Autism Spectrum Disorder (ASD). Methods: An electronic mealtime survey was administered to caregivers of 3- to 9-year-old children diagnosed with ASD in a Philippine tertiary government hospital. Descriptive statistics and correlation analyses between feeding difficulties measured as Mealtime Survey Score, sociodemographic data, and early feeding history were performed. The impact of the COVID-19 pandemic to these was analyzed through a binomial test. Results: All of the 115 study subjects reported at least one problematic feeding behavior, with picky eating being the most frequent (61.74%). Significantly, more feeding difficulties were observed among the children with reported early feeding difficulties during their 2nd and 3rd year of life. There were no documented statistically significant changes in feeding behaviors during the past six months of the COVID-19 pandemic. Conclusion There is a high prevalence of feeding difficulties and problematic feeding behavior among Filipino children with ASD, however no significant changes to these during the past six months of the COVID-19 pandemic were documented. Present feeding difficulties and behaviors were associated with history of early feeding difficulties, highlighting the need to include feeding difficulties in screening tools, and early training programs and interventions for children with ASD.
Autism Spectrum Disorder: Child ; Feeding Behavior ; COVID-19

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51). METHODS: A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. CONCLUSION The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Autism Spectrum Disorder/genetics* ; Mutation

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People's Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). A GTX genetic analysis system was used to analyze the WES data and screen candidate variants for ASD. Candidate variant was verified by Sanger sequencing and bioinformatics analysis. Real-time fluorescent quantitative PCR (qPCR) was carried out to compare the expression of mRNA of the NSD1 gene between this child and 3 healthy controls and 5 other children with ASD. RESULTS: The patient, an 8-year-old male, has manifested with ASD, mental retardation and CHD. WES analysis revealed that he has harbored a heterozygous c.3385+2T>C variant in the NSD1 gene, which may affect the function of its protein product. Sanger sequencing showed that neither of his parent has carried the same variant. By bioinformatic analysis, the variant has not been recorded in the ESP, 1000 Genomes and ExAC databases. Analysis with Mutation Taster online software indicated it to be disease causing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. By qPCR analysis, the expression level of mRNA of the NSD1 gene in this child and 5 other children with ASD was significantly lower than that of the healthy controls (P < 0.001). CONCLUSION The c.3385+2T>C variant of the NSD1 gene can significantly reduce its expression, which may predispose to ASD. Above finding has enriched the mutational spectrum the NSD1 gene.
Male ; Child ; Humans ; Autism Spectrum Disorder/genetics* ; Heart Defects, Congenital/genetics* ; Computational Biology ; Genomics ; Mutation ; RNA, Messenger/genetics* ; Histone-Lysine N-Methyltransferase/genetics*

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with intellectual disability (ID), developmental delay (DD), and autistic spectrum disorder (ASD). METHODS: Forty patients with ID/DD/ASD referred to Nanshan Maternity and Child Health Care Hospital from September 2018 to January 2022 were enrolled. G-banded karyotyping analysis was carried out for the patients. Genomic DNA was extracted from peripheral blood samples and subjected to CNV-Seq analysis to detect chromosome copy number variations (CNVs) in such patients. ClinVar, DECIPHER, OMIM and other database were searched for data annotation. RESULTS: Among the 40 patients (including 30 males and 10 females), 16, 15 and 6 were diagnosed with ID, DD and ASD, respectively. One patient had combined symptoms of ID and DD, whilst the remaining two had combined ID and ASD. Four patients were found with abnormal karyotypes, including 47,XY,+mar, 46,XY,inv(8)(p11.2q21.2), 46,XX,del(5)(p14) and 46,XX[76]/46,X,dup(X)(p21.1q12). Chromosome polymorphism was also found in two other patients. CNV-seq analysis has detected 32 CNVs in 20 patients (50.0%, 20/40). Pathogenic CNVs were found in 10 patients (25.0%), 15 CNVs of uncertain clinical significance were found in 12 patients (30.0%), and 7 likely benign CNVs were found in 4 patients (10.0%). CONCLUSION Chromosome CNVs play an important role in the pathogenesis of ID/DD/ASD. CNV-seq can detect chromosomal abnormalities including microdeletions and microduplications, which could provide a powerful tool for revealing the genetic etiology of ID/DD/ASD patients.
Pregnancy ; Child ; Male ; Humans ; Female ; DNA Copy Number Variations ; Intellectual Disability/genetics* ; Autism Spectrum Disorder/genetics* ; Developmental Disabilities/genetics* ; Abnormal Karyotype

Neurodevelopmental disorders (NDDs) in children are a group of chronic developmental brain disorders caused by multiple genetic or acquired causes, including disorders of intellectual development, developmental speech or language disorders, autism spectrum disorders, developmental learning disorders, attention deficit hyperactivity disorder, tic disorders, and other neurodevelopmental disorders. With the improvement in the research level and the diagnosis and treatment techniques of NDDs, great progress has been made in the research on NDDs in children. This article reviews the research advances in NDDs, in order to further improve the breadth and depth of the understanding of NDDs in children among pediatricians.
Humans ; Child ; Neurodevelopmental Disorders/therapy* ; Autism Spectrum Disorder/therapy* ; Attention Deficit Disorder with Hyperactivity

OBJECTIVE: To compare the clinical efficacy and safety between syndrome-differentiation acupuncture combined with rehabilitation training and simple rehabilitation training for children with autism spectrum disorder (ASD). METHODS: A total of 60 children with ASD were randomly divided into an observation group and a control group, 30 cases in each group. In the control group, routine rehabilitation training was applied; in the observation group, syndrome-differentiation acupuncture (the main points were Baihui [GV 20], Dingshenzhen, Niesanzhen, etc., the supplementary acupoints were selected according to syndrome-differentiation) combined with rehabilitation training were applied, all the treatments were given once a day, 5-day continuous treatment with 2-day interval, 12 weeks were required. Before treatment and after 6, 12 weeks of treatment, the autism treatment evaluation checklist (ATEC), childhood autism rating scale (CARS) and autism behavior checklist (ABC) scores were observed, the therapeutic effect and safety were evaluated in the two groups. RESULTS: After 6 and 12 weeks of treatment, except for the sensory perception score after 6 weeks of treatment in the control group, the item scores and total scores of ATEC, CARS scores and ABC scores were decreased compared with those before treatment in the two groups (P<0.05). After 6 weeks of treatment, the social score and total score of ATEC, CARS score in the observation group were lower than those in the control group (P<0.05); after 12 weeks of treatment, the item scores and total score of ATEC, CARS score and ABC score in the observation group were lower than those in the control group (P<0.05). The total effective rate in the observation group was 80.0% (24/30), which was higher than 56.7% (17/30) in the control group (P<0.05). There was no serious adverse reactions in the two groups, and there was no significant difference in the incidence rate of adverse reactions between the two groups (P>0.05). CONCLUSION Syndrome-differentiation acupuncture combined with rehabilitation training could improve the core symptoms in children with ASD, especially sensory perception and social ability, and with good safety, which is superior to simple rehabilitation training.
Child ; Humans ; Autism Spectrum Disorder/therapy* ; Acupuncture Therapy ; Treatment Outcome ; Acupuncture Points ; Medicine

OBJECTIVE: To compare the effect of electroacupuncture at Tinghui (GB 2) and Benshen (GB 13) combined with routine rehabilitation training and simple routine rehabilitation training on abnormal auditory response in children with autism spectrum disorder (ASD). METHODS: A total of 70 children with ASD were randomly divided into an observation group and a control group, 35 cases in each group. The control group was given routine rehabilitation training. On the basis of the treatment in the control group, the observation group was given electroacupuncture at Tinghui (GB 2) and Benshen (GB 13), disperse-dense wave, frequency in 2 Hz/10 Hz, 20 min each time, and 1 day off after 6 days of treatment. Both groups were treated for 12 weeks. The incidence of abnormal auditory response, the scores of childhood autism rating scale (CARS) and autism behavior checklist (ABC) were compared between the two groups before and after treatment. RESULTS: After treatment, the total incidences of abnormal auditory response in the two groups and the incidences of dull and hypersensitive auditory response in the observation group were lower than those before treatment (P<0.05). The total incidence of abnormal auditory response and the incidence of hypersensitive auditory response in the observation group were lower than those in the control group (P<0.05). After treatment, CARS and ABC scores of both groups were lower than those before treatment (P<0.05), and those in the observation group were lower than the control group (P<0.05). CONCLUSION Electroacupuncture at Tinghui (GB 2) and Benshen (GB 13) combined with routine rehabilitation training can reduce the incidence of abnormal auditory response and improve the core symptoms in children with ASD, and the clinical effect is better than the simple routine rehabilitation training.
Humans ; Child ; Electroacupuncture ; Autism Spectrum Disorder/therapy* ; Acupuncture Points ; Medicine ; Pain

According to the theory of acupuncture-moxibustion for the treatment of spirit, starting from the relationship between eye movement and spirit, the application of electrooculogram (EOG) signal acquisition and analysis technology for the clinical treatment of spirit by acupuncture-moxibustion is discussed. Based on the nonlinear dynamic characteristics of EOG signals, it is proposed to apply the approximate entropy algorithm to extract the EOG signal characteristics in autism spectrum disorder children under different behavior states, which could realize the preliminary exploration of the correlation between EOG signals and cognitive activities. This could provide a possibility to objectively reflect the patient' s current mental state, and could be used as a potential method to grasp spirit in clinical acupuncture- moxibustion treatment. Furthermore, considering the characteristics of acupoint stimulation on the body surface, the EOG signal acquisition and analysis technology could further be combined with biofeedback technology, and a new idea for clinical acupuncture-moxibustion to treat spirit guided by biofeedback of EOG is proposed.
Child ; Humans ; Moxibustion ; Electrooculography ; Autism Spectrum Disorder ; Entropy ; Acupuncture Therapy ; Acupuncture Points

OBJECTIVES: To explore the association between maternal gestational diabetes mellitus (GDM) exposure and the development of autism spectrum disorder (ASD) in offspring. METHODS: A case-control study was conducted, recruiting 221 children with ASD and 400 healthy children as controls. Questionnaires and interviews were used to collect information on general characteristics of the children, socio-economic characteristics of the family, maternal pregnancy history, and maternal disease exposure during pregnancy. Multivariate logistic regression analysis was used to investigate the association between maternal GDM exposure and the development of ASD in offspring. The potential interaction between offspring gender and maternal GDM exposure on the development of ASD in offspring was explored. RESULTS: The proportion of maternal GDM was significantly higher in the ASD group compared to the control group (16.3% vs 9.4%, P=0.014). After adjusting for variables such as gender, gestational age, mode of delivery, parity, and maternal education level, maternal GDM exposure was a risk factor for ASD in offspring (OR=2.18, 95%CI: 1.04-4.54, P=0.038). On the basis of adjusting the above variables, after further adjusting the variables including prenatal intake of multivitamins, folic acid intake in the first three months of pregnancy, and assisted reproduction the result trend did not change, but no statistical significance was observed (OR=1.94, 95%CI: 0.74-5.11, P=0.183). There was an interaction between maternal GDM exposure and offspring gender on the development of ASD in offspring (P<0.001). Gender stratified analysis showed that only in male offspring of mothers with GDM, the risk of ASD was significantly increased (OR=3.67, 95%CI: 1.16-11.65, P=0.027). CONCLUSIONS Maternal GDM exposure might increase the risk of ASD in offspring. There is an interaction between GDM exposure and offspring gender in the development of ASD in offspring.
Child ; Female ; Pregnancy ; Humans ; Male ; Diabetes, Gestational/etiology* ; Autism Spectrum Disorder/etiology* ; Case-Control Studies ; Gestational Age ; Mothers

Since December 2019, coronavirus disease 2019 (COVID-19) has been rapidly spreading worldwide and affecting the physical and mental health of the general population. It may have even more serious potential harm to children with autism spectrum disorder (ASD). This paper provides a literature review on the psychological and behavioral problems experienced by children with ASD during the COVID-19 epidemic, as well as the factors influencing these issues. The findings of this review can serve as a basis for clinical research on ASD children.
Humans ; Child ; Problem Behavior ; COVID-19 ; Autism Spectrum Disorder ; Epidemics