INTRODUCTION

The social determinants of health refer to an individual's social, political, and economic situation and environment, which can have an impact on their health. On the other hand, disability-adjusted life years (DALYs) reflect the mortalities and morbidities incurred due to disease and injury.

This study aims to analyze the social determinants of health indicators and their association with communicable, non-communicable, and injury-related DALYs and deaths.

Data from World Health Organization, World Bank, and International Labor Organization were used and considered for the 17 Social Determinants of Health categories. Logistic regression was used to determine the relationship of social determinants of health indicators with communicable, non-communicable, and injury-related DALYs and deaths.

Results show that an increase in the population, monetary poverty, adult illiteracy, and fine particulate matter increase IPNN DALYs. This study also found correlations of socioeconomic factors to NCD deaths and DALYs attributable to the environment. NCD DALYs and deaths are found to increase with the number of poor living with 3.10 dollars a day, while median daily per capita income, and increase in persons above retiring age receiving pension decrease NCD DALYs attributable to the environment. Focusing on injury DALYs and deaths, an increase in the number of poor living at 3.10 dollars a day, non-agricultural informal employment, and total average concentration of f ine particulate matter increases injury DALYs while the latter is observed to decrease when there is an increase in the medial daily per capita income, agricultural employment outside the formal sector, and vulnerable persons covered by social assistance.

Socio-economic factors such as income, employment, education, and social welfare program affect morbidity, disability, and mortality.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

BACKGROUND

During the COVID-19 pandemic, social isolation and quarantine measures set to control the spread of the infection paved for the increased utilization of virtual methods of consultation and follow-up. Telerehabilitation allows access to rehabilitation services despite distance and makes possible the continuation of rehabilitation services despite the lack of face-to-face interaction. This is difficult for pediatric patients who are dependent on their caregivers for understanding and making decisions regarding their health. Loss of continuity of rehabilitation services led to poorer outcomes in children with disabilities. Although advantageous for them, pediatric patients may not benefit from telerehabilitation if caregivers have negative perceptions of the process and are unwilling to utilize the service.

This study determined caregivers’ perceptions and willingness to participate in telerehabilitation as a method of outpatient follow-up for pediatric patients admitted to a COVID-referral center in a developing country.

The study utilized a descriptive cross-sectional design. Respondents were adults (≥19 years old) caring for pediatric patients admitted at non-COVID wards of the Philippine General Hospital and who were referred for rehabilitation services. A survey tool adapted from a previous study on willingness to utilize telemedicine among caregivers of pediatric patients was translated into the Filipino language and used in the study. A dataset from Excel was imported in STATA 16 (StataCorp, Texas, USA) and was exhaustively checked for completeness, accuracy, and consistency before analysis. The association between patient characteristics and willingness to utilize telerehabilitation for any app was determined using Pearson’s chi-squared test or Fisher’s exact test, as appropriate. The latter was used when more than 20% of the cells had an expected value of less than or equal to five. A P value of less than 0.05 was considered significant for all tests.

Of 123 respondents, 92 (75%) reported willingness to utilize telerehabilitation for outpatient consultation and therapy using video calls or a customized telerehabilitation app when available. Among 31 (25%) respondents who were not willing or unsure of participation, the main reasons identified were preference for face-to-face, lack of financial resources/load, poor connectivity, and doubt about the effectiveness of telerehabilitation.Patients with younger age (Fisher’s exact test, P=0.023), low usage of video call service (Fisher’s exact test, P=0.020), and lack of available devices (Fisher’s exact test, P=0.015) significantly reduced willingness to utilize telerehabilitation. Caregiver age, sex, educational attainment, estimated monthly income, number of devices used, speed of internet connectivity, and technological behaviors did not show statistical significance in association with willingness to participate in telerehabilitation.Most caregivers recognized the usefulness of a service allowing transmission of health data to and from the hospital, consultation with a doctor in case of an emergency, sending of reminders for medical visits and therapy, and provision of a list of home exercises and nutritional recommendations. Telerehabilitation was perceived advantageous, but concerns regarding privacy, trust, lack of human contact, and technological difficulty were also present.

With high levels of willingness among caregivers, telerehabilitation is a viable method of providing rehabilitation services for the continuation of management after inpatient admission among pediatric patients. Limitations in its utilization include technological issues including the lack of devices, low level of service use, and slow internet connectivity. Although well perceived as advantageous, there are concerns regarding loss of human contact, difficulty in using technological devices, and trust and privacy issues that may affect utilization.

OBJECTIVE: To observe the clinical efficacy of transcutaneous electrical acupoint stimulation (TEAS) at Changqiang (GV 1) based on the modulation of electro-oculogram (EOG) signal for children with mental retardation, and explore the evaluation effect of the goal attainment scale (GAS) in children with mental retardation. METHODS: Sixty children with mental retardation were randomly divided into a treatment group and a control group, with 30 cases in each one. The children in the control group were treated with conventional rehabilitation, 5 times a week. On the basis of the control group, TEAS at Changqiang (GV 1) under the modulation of EOG signal was adopted in the treatment group. When the similarity between the collected EOG signal and the template was within the range of EOG threshold, one electric stimulation was triggered at Changqiang (GV 1) for 20 s (continuous wave, 70-100 Hz in frequency, 0.1-0.2 ms in pulse width), lasting 30 min in each treatment, the intervention was given twice a week. One course of treatment was composed of 4 weeks, and 3 courses were required in total in the two groups. The infant-junior high school student's social living ability scale (S-M) and GAS were scored and compared before and after treatment in the two groups. RESULTS: After treatment, the scores of self-living ability in the treatment group and communication ability in the control group were higher than those before treatment (P<0.01, P<0.05). The scores of collective activity and motor ability in the treatment group were higher than those in the control group (P<0.05). After treatment, GAS scores were higher than before treatment in both groups (P<0.001), and the score in the treatment group was higher than the control group (P<0.05). CONCLUSION TEAS under the modulation of EOG signal is conductive to improving the collective, motor and self-living abilities of the children with mental retardation and promoting children's individual goals. Compared with the standard score of S-M, the T value of GAS can better reflect the subtle progress of individual.
Infant ; Humans ; Child ; Intellectual Disability/therapy* ; Electrooculography ; Acupuncture Points ; Medicine ; Electric Stimulation

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97^th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.
Male ; Humans ; Child ; Intellectual Disability/genetics* ; Developmental Disabilities/genetics* ; Retrospective Studies ; Seizures/genetics* ; Craniofacial Abnormalities/genetics* ; Histone Deacetylases/genetics*

Objective: To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1 (NF1). Methods: From January 2017 to July 2023 at Children's Hospital Capital Institute of Pediatrics, medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study. The clinical characteristics, treatment and prognosis were analyzed retrospectively. Results: A total of 15 patients(12 boys and 3 girls) were collected. Café-au-lait macules were observed in all 15 patients. There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay. The age at the first epileptic seizure was 2.5 (1.2, 5.5) years. There were various seizure types, including generalized tonic-clonic seizures in 8 patients, focal motor seizures in 6 patients, epileptic spasm in 4 patients, tonic seizures in 1 patient, absence in 1 patient, generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient. Among 14 patients whose brain magnetic resonance imaging results were available, there were abnormal signals in corpus callosum, basal ganglia, thalamus or cerebellum in 6 patients, dilated ventricles of different degrees in 3 patients, blurred gray and white matter boundary in 2 patients, agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients. Among 13 epilepsy patients, 8 were seizure-free with 1 or 2 antiseizure medications(ASM), 1 with drug resistant epilepsy was seizure-free after left temporal lobectomy, and the other 4 patients who have received 2 to 9 ASM had persistent seizures. One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand. One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM. Conclusions: The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood, with the main seizure type of generalized tonic-clonic seizure and focal motor seizure. Some patients have intellectual disability or developmental delay. Most epilepsy patients achieve seizure freedom with ASM.
Male ; Female ; Humans ; Child, Preschool ; Child ; Neurofibromatosis 1/diagnosis* ; Retrospective Studies ; Intellectual Disability ; Electroencephalography ; Epilepsy/etiology* ; Seizures/etiology*

Insomnia induced by mental retardation is related to the synergistic dysfunction of "shaoyang, sanjiao and haishi (the period of the day from 9 pm to 11 pm) " in pathogenesis. Based on "trinity theory of shaoyang, sanjiao and haishi ", the acupoints of hand and food shaoyang meridians on the head and face (Fengchi [GB 20], Sizhukong [TE 23] and Jiaosun [TE 20]) and those on the four limbs (Sanyangluo [TE 8], Zhongzhu [TE 3], Qiuxu [GB 40] and Xiaxi [GB 43]) are selected to regulate the pivot function of shaoyang. Front-mu and back-shu points (Sanjiaoshu [BL 22], Danzhong [CV 17] and Tianshu [ST 5]), as well as auricular points (Gan [CO₁₂], Dan [CO₁₁] and Sanjiao [CO₁₇]) are chosen to promote qi circulation of shaoyang and sanjiao meridians. In association with the relevant knowledge of time acupuncture at haishi, the circadian rhythm of sleep is set up and the appropriate sleep pattern is developed.
Humans ; Sleep Initiation and Maintenance Disorders/therapy* ; Intellectual Disability ; Acupuncture Therapy ; Meridians ; Acupuncture Points

Humans ; East Asian People ; Intellectual Disability/genetics* ; Membrane Transport Proteins/genetics* ; Lectins/genetics*

Child ; Humans ; Adolescent ; Cross-Sectional Studies ; Intellectual Disability ; Exercise

Objective To compare the functional status of diabetic patients with and without nephropathy and identify the items that diabetic patients with nephropathy are more likely to develop dysfunction than diabetic patients without nephropathy based on the international classification of functioning,disability and health rehabilitation set(ICF-RS).Methods A cross-sectional study was conducted.A total of 320 diabetic patients hospitalized in Guangdong Provincial Hospital of Chinese Medicine from August 2021 to February 2022 were selected and assigned into a group with nephropathy and a group without nephropathy.The general characteristics,clinical examination,and laboratory findings were compared by the t test,rank sum test,and Chi-squared test.The functional status of the patients was compared between the two groups by the t test based on the ICF-RS.Logistic regression was employed to control interferential factors between the two groups and identify the association between nephropathy and ICF-RS problematic items among diabetic patients.Results The diabetic patients with nephropathy had more problematic items in ICF-RS(P<0.001),the body function dimension(P=0.003),the activity dimension(P<0.001),and the participation dimension(P<0.001)than those without nephropathy.Moreover,the diabetic patients with nephropathy experienced severer problems in 5 body function items(energy and drive functions,sleep functions,sexual functions,exercise tolerance functions,and muscle power functions),10 activity items(transferring oneself,walking,moving around using equipment,moving around,washing oneself,caring for body parts,toileting,dressing,doing housework,and looking after one's health),and 4 participation items(using transportation,assisting others,basic interpersonal interactions,and recreation and leisure)(all P<0.05).The Logistic regression results showed that compared with the diabetic patients without nephropathy,the diabetic patients with nephropathy were more likely to develop problems in energy and drive functions(aOR=4.35,95%CI=1.28-14.79,P=0.019),emotional functions(aOR=1.88,95%CI=1.06-3.34,P=0.031),sexual functions(aOR=3.39,95%CI=1.82-6.34,P<0.001),moving around(aOR=3.11,95%CI=1.76-5.52,P<0.001),doing housework(aOR=17.48,95%CI=3.57-85.60,P<0.001),looking after one's health(aOR=1.97,95%CI=1.13-3.43,P=0.017),using transportation(aOR=2.59,95%CI=1.38-4.88,P=0.003),and recreation and leisure(aOR=2.52,95%CI=1.46-4.35,P<0.001).Conclusion Compared with the diabetic patients without nephropathy,the patients with nephropathy suffer more ICF-RS problematic items and are more likely to develop dysfunction in certain items in all the three dimensions.
Humans ; Disability Evaluation ; Cross-Sectional Studies ; Functional Status ; Disabled Persons/rehabilitation* ; Kidney Diseases ; Diabetes Mellitus ; Activities of Daily Living