OBJECTIVES

This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines.

Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented.

Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively.

While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.

: 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

Objectives: This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines. Methods: Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented. Results: Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively. Conclusions While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.
Quality of Life ; Autistic Disorder ; Child

Background: The COVID-19 pandemic has affected the well-being of children with Autism Spectrum Disorder (ASD) and their families. The core deficits of the condition and increased parental stress during this time made them more vulnerable. Objectives: This study aims to explore how the pandemic has affected these families by identifying their needs and capabilities in order to provide support. Methods: A total of 227 parents of children with ASD completed an online survey consisting of items on sociodemographic, family needs, and coping strategies. Descriptive statistics were used and t-test and ANOVA/Kruskal Wallis were used to determine the relationship between parent and child factors with needs and coping. Results: Needs for Information, Community Services, and Finances are the top categories while the greatest identified need during this pandemic was for financial assistance. Religiosity, Problem-Solving, and Cognitive Reappraisal were the widely used coping strategies by the parents. Fathers, younger children, daughters with ASD, and having more than one child with ASD showed significant association with needs. Parents with primary and tertiary education were associated with use of the cognitive reappraisal strategy and those with jobs were associated with substance use. Conclusion Families of children with ASD have multiple needs during this pandemic, from autism-specific information and services, to more generic concerns such as financial assistance. Despite these challenges, these families have positive strategies in place to facilitate coping mechanisms.
Autistic Disorder ; COVID-19 ; Needs Assessment ; Coping Skills

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

Autism Spectrum Disorder (ASD) is a phenotypically heterogenous group of neurodevelopmental syndromes characterized by a wide range of impairments in socialcommunication and restricted and repetitive behaviors. (1) The majority of individualswith ASD go through puberty and experience the same physical and psychosexual aspectsof sexual development as their peers. However, there are notable problems with regardsto sexuality especially at the start of puberty when the development of social skillscannot keep up with the increasing social demands, and the difficulties of formingromantic and sexual relationships become evident. (2)The case presented here is a 26-year-old male with a history of engaging in paraphilicactivities that showed the complexities of ASD (Asperger Syndrome) in their sexualbehavior.PJPCASE REPORTTYING IT ALL TOGETHER:CASE OF AUTISM SPECTRUM DISORDER WITH PARAPHILIC ACTIVITIESMELANIE TONGOL, MDTHE MEDICAL CITYDEPARTMENT OF PSYCHIATRY34 · PJP 2023 · Volume 4 (1-2) · ISSN 2980-4884CASE PRESENTATIONChief ComplaintJay was a 26-year-old Filipino male, Christian,single, seeking consult for intrusive thoughts withthemes of bondage & discipline, dominance& submission and sadism &masochism (BDSM).History of Present IllnessJay described himself as curious, ambitious, andpeculiar. Despite trying to be sociable andextroverted, he had difficulty connecting withfriends and he often ended up alone. This hasbeen a recurring experience since childhood.Five years prior to consult, Jay’s excitement washyped, as a female chatmate opened up thetopic of BDSM.He shared his long-term fantasies of tying up agirl and subjecting her to pain, humiliation andsexual stimulation, which was never realizedgiven his Christian belief that it was wrong.After meeting someone who shared his hiddendesires, he was able to muster the strength to liveout his fantasies and met with the said chatmate.They planned their BDSM roles and restrictions,with Jay as the dominant and the chatmate assubmissive. On the day of their meeting, Jaypacked ropes in his bag, as he remembered hispast fascination with them when he was still aboy scout. he met his chatmate at the deliveryarea of a mall and there began his string of novel sexual pursuits. He started binding herhands and legs behind her. Both lying on thefloor, fully clothed, he kept on tying her as if hewas in a trance. Merely having his partner
Autism Spectrum Disorder ; Asperger Syndrome