: This study aimed to identify risk factors associated with problematic mealtime behaviors in Filipino children aged 3-11 years diagnosed with ASD and to validate the Filipino-translated Brief Autism Mealtime Behavior Inventory (BAMBI) for clinical use. The study examined demographics, socioeconomic status, and clinical characteristics of children with ASD in relation to feeding difficulties. MATERIALS AND METHODS: A cross-sectional study was conducted with 166 caregivers of Filipino children with ASD at the Philippine Children’s Medical Center. The BAMBI questionnaire, translated and validated into Filipino, was administered among patients evaluated under the Section of Neurodevelopmental Pediatrics. Content validity was established through neurodevelopmental pediatric experts, while face validity was achieved with feedback from 17 caregivers during the pilot test. Descriptive statistics and logistic regression were performed to identify the factors. RESULTS: The Filipino-translated BAMBI demonstrated good content and face va- lidity based on reviews and pilot testing. The tool showed acceptable internal consistency with a Cronbach’s alpha of 0.75, indicating good reliability. Seventy-seven percent (77%) of participants scored above the threshold for problematic mealtime behaviors, with multivariate analysis revealing a significant association between these behaviors and sensory sensitivities (OR = 3.0, 95% CI: 1.2 to 7.3, p = 0.0150). Additional factors, such as dietary habits and family structure, also showed trends toward significance but did not reach statistical significance. CONCLUSIONS AND RECOMMENDATIONS This study validates the Filipino BAMBI as a reliable tool for assessing mealtime behaviors in children with ASD, highlighting the high prevalence of feeding problems in this population. Sensory sensitivities emerged as a significant factor contributing to problematic mealtime behaviors, underscoring the importance of incorporating sensory processing strategies in interventions. Further research should explore other contributing factors, such as dietary habits and family dynamics, to develop more comprehensive, tailored interventions for children with ASD and their families.
Autism spectrum disorder ; mealtime behaviors ; feeding difficulties ; BAMBI ; parent questionnaire ; risk factors

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 understand the status of autism spectrum disorder (ASD) cohort studies and explore the feasibility of constructing ASD disease-specific cohorts based on real-world data (RWD). Methods: ASD cohort studies published by December 2022 were collected by literature retrieval from major Chinese and English databases. And the characteristics of the cohort were summarized. Results: A total of 1 702 ASD cohort studies were included, and only 60 (3.53%) were from China. A total of 163 ASD-related cohorts were screened, of which 55.83% were birth cohorts, 28.22% were ASD-specific cohorts, and 4.91% were ASD high-risk cohorts. Most cohorts used RWD such as hospital registries or conducted community-based field surveys to obtain participant information and identified patients with ASD by scales or clinical diagnoses. The contents of the studies included ASD incidence and prognostic risk factors, ASD comorbidity patterns and the impact of ASD on self-health and their offspring's health. Conclusions: ASD cohort studies in developed countries have been in the advanced stage, while the Chinese studies are still in their infancy. RWD provides the data basis for ASD-specific cohort construction and offers new opportunities for research, but work such as case validation is still needed to ensure the scientific nature of cohort construction.
Humans ; Autism Spectrum Disorder ; Cohort Studies ; Databases, Factual

To study of premature/early death of autistic patients from the perspective of life course can help families, medical institutions and policy makers better deal with the adverse effects of autism. Several studies have shown that autistic patients have a high risk of death, however, the results are still inconsistent. To assess the risk of mortality among the autistic patients, we undertook a comprehensive search of MEDLINE, Web of Science and EMBASE databases. This paper reviewed the studies on the negative disease outcomes of autism spectrum disorders, including the risk of death, causes of death and several research hotspots in this field. Strict inclusion/exclusion criteria were used. Information was extracted from selected papers, tabulated and synthesized. In the study, 15 studies were included, with a total of 216 045 individuals. The main outcome was all-cause mortality in association with autism and the secondary outcome was cause-specific mortality. The results showed that all-cause mortality was higher for the autistic patients (RR=2.32, 95%CI: 1.98-2.72, I²=87.1%, P < 0.001). Risk ratio showed a greater inequality for female than male (male: RR=2.00, 95%CI: 1.57-2.55, I²=93.2%, P < 0.001; female: RR=4.66, 95%CI: 3.30-6.58, I²=92.0%, P < 0.001). Compared with the unnatural death, the risk of natural death was higher (RR=3.44, 95%CI: 1.27-9.26, I²=80.2%, P=0.025). As autism had many comorbidities, which would bring more health risks and natural deaths possibilities. There were some structural differences in unnatural death. Accidental injury death and suicide were two kinds of causes. Lacking social skills would weaken the ability to ask for help when encountering injuries. This paper put forward some suggestions for futures. First, to well study the comorbidity can reduce the risk of death from a medical point of view. Second, the scientists and policymakers should pay attention to the social environment and provide a safer environment for the autistic patients. Third, for women and for adolescents without cognitive impairment, due to their high risk of suicide, the society should provide them with more supportive social networks and improve their life satisfaction. Fourth, it is necessary to balance the rehabilitation resources in various regions in China and provide more high-quality lifelong rehabilitation monitoring and care services.
Adolescent ; Humans ; Male ; Female ; Autism Spectrum Disorder ; Cause of Death ; Comorbidity ; Autistic Disorder ; China

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

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