BACKGROUND: COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact vulnerable populations. OBJECTIVES: This study intends to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing pandemic. METHODOLOGY: A cross-sectional survey using a socio-demographic questionnaire, situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life was documented via Google Forms. Parents of patients aged 2-18 years seen at the PCMC Neurodevelopmental Pediatrics OPD during July to December 2019 were recruited. RESULTS: Data from 115 respondents showed a lower score in the environmental domain. Child characteristics comparable with QoL scores include sex, severity of ID and ADHD while parent characteristics comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported situations of physical distancing (82.61%) and curfew (80.87%). Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government policy received included quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%). RECOMMENDATIONS Programs and policies should be planned accordingly to provide improvement of quality of life to parents and their child with neurodevelopmental disorder.
Neurodevelopmental Disorders

Humans ; Drug Resistant Epilepsy ; Neurodevelopmental Disorders/genetics*

Background and objective : Neurodevelopmental disabilities in adolescents have signifi cant effects on medical and social function. One of these challenges is their transition into adult care. Parental involvement is critical because these young adults may have more diffi culties in making informed decisions independently. Thus, the transition process involves not only the direct health care needs of the young adult, but the needs and concerns of the parents or carers who are instrumental in guiding that process. This study aims to explore the expectations and experiences of family carers of youths with chronic neurodevelopmental disorders who have undergone or are about to undergo transition into adult healthcare in a Filipino-based health care system. Methods: A descriptive phenomenology was used to gain an in-depth understanding of parents’ perceptions and experiences of their youths’ transition process from a pediatric to an adult health care setting. The results were analyzed manually using Colaizzi’s method, which involves integrating both the destructured and restructured analysis principles of phenomenology. Purposive sampling was used to interview 13 family carers of 13 youths with various neurodevelopmental disorders using a semi-structured interview questionnaire. Results : Despite the lack of information on the transition process, our study found that carers did not have a strong inclination to resist the transition event. Most of the carers treat the health care provider as a major decision maker in determining the timing and manner of transition, adopting a “doctor knows best” attitude. Several other hindrances and facilitators to successful transition were also identifi ed and are similar to the current literature. Conclusion This study provides a greater understanding of carers’ perceptions and experiences of transition care for youths with neurodevelopmental disorders in the local setting. They exhibited trust and confi dence in the medical profession as a whole, and had a “doctor knows best” attitude that may enable successful transitioning.
Transitional Care ; Neurology ; Neurodevelopmental Disorders ; Caregivers

Objectives: To determine the burden of COVID-19 related mental health problems such as anxiety and/or depression among caregivers of children and adolescents with neurodevelopmental disorders in a government tertiary hospital. Materials and Methods: This is a cross-sectional study conducted at the Out-patient Department of PCMC. Caregiver data sheet and HADS-P forms were given to eligible caregivers. Results: A total of 102 caregivers were included. The prevalence of significant risk for anxiety disorder among caregivers of children and adolescents with neurodevelopmental disorders is 34.31% (n=35), 1.96% (n=2) for depression and 3.92% (n=4) for both anxiety and depression. Using logistic regression, marital status of common law partner and female sex have significant association with depression and anxiety; the number of household members has a direct association to significant risk for both anxiety and depression. Conclusion Female sex and common law partnership as marital status are associated with 2-3 times of having significant risk for anxiety or depression. The number of household members is correlated with an increased significant risk of having both anxiety and depression. Screening caregivers using appropriate tests would identify caregivers at significant risk for anxiety and depression and further create intervention programs.
Anxiety ; Depression ; Caregiversl ; Neurodevelopmental Disorders ; COVID-19 ; Mental Health

It is clear that organoids are useful for studying the structure as well as the functions of organs and tissues; they are able to simulate cell-to-cell interactions, symmetrical and asymmetric division, proliferation, and migration of different cell groups. Some progress has been made using brain organoids to elucidate the genetic basis of certain neurodevelopmental disorders. Such as Parkinson's disease and Alzheimer's disease. However, research on organoids in early neural development has received insufficient attention, especially that focusing on neural tube precursors. In this review, we focus on the recent research progress on neural tube organoids and discuss both their challenges and potential solutions.
Humans ; Organoids ; Neural Tube ; Neurodevelopmental Disorders/genetics* ; Brain ; Alzheimer Disease

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders. Patients usually exhibit certain degree of social interaction impairment in accompany with impairment in language development as well as repetitive behaviors or interests. In recent years, ASD-related variants, genes, functional pathways, and expression patterns in the brain have been discovered, along with advance in sequencing techniques. This article reviews various aspects of genetic research in association with ASD.
Autism Spectrum Disorder/genetics* ; Cognition ; Genetic Research ; Humans ; Neurodevelopmental Disorders

Social (pragmatic) communication disorder (SCD) is a new diagnosis included under communication disorders in the neurodevelopmental disorders section of Diagnostic and Statistical Manual of Mental Disorders-5. SCD is defined as a primary deficit in the social use of nonverbal and verbal communication. SCD has very much in common with pragmatic language impairment, which is characterized by difficulties in understanding and using language in context and following the social rules of language, despite relative strengths in word knowledge and grammar. SCD and Autism Spectrum Disorder (ASD) are similar in that they both involve deficits in social communication skills, however individuals with SCD do not demonstrate restricted interests, repetitive behaviors, insistence on sameness, or sensory abnormalities. It is essential to rule out a diagnosis of ASD by verifying the lack of these additional symptoms, current or past. The criteria for SCD are qualitatively different from those of ASD and are not equivalent to those of mild ASD. It is clinically important that SCD should be differentiated from high-functioning ASD (such as Asperger syndrome) and nonverbal learning disabilities. The ultimate goals are the refinement of the conceptualization, development and validation of assessment tools and interventions, and obtaining a comprehensive understanding of the shared and unique etiologic factors for SCD in relation to those of other neurodevelopmental disorders.
Autism Spectrum Disorder ; Communication Disorders ; Diagnosis ; Learning Disorders ; Neurodevelopmental Disorders ; Social Communication Disorder*

OBJECTIVE: To explore the clinical characteristics and genetic etiology for two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MEDHSIL). METHODS: Two children who had visited the Ningbo Women and Children's Hospital on October 15, 2021 were selected as the study subjects. Whole exome sequencing (WES) was carried out for both patients. Candidate variants were verified by Sanger sequencing of their family members. RESULTS: The two children were respectively found to harbor a heterozygous c.138delC (p.Ile47Serfs*42) variant and a c.833del (p.L278*) variant of the MEF2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.138delC and c.833del variants of the MEF2C gene probably underlay the pathogenesis of MEDHSIL in the two children. Above findings have enriched the mutational spectrum of the MEF2C gene and enabled genetic counseling for their families.
Child ; Humans ; Family ; Genetic Counseling ; Language ; MEF2 Transcription Factors/genetics* ; Muscle Hypotonia/genetics* ; Neurodevelopmental Disorders

The gut microbiota has been found to interact with the brain through the microbiota-gut-brain axis, regulating various physiological processes. In recent years, the impacts of the gut microbiota on neurodevelopment through this axis have been increasingly appreciated. The gut microbiota is commonly considered to regulate neurodevelopment through three pathways, the immune pathway, the neuronal pathway, and the endocrine/systemic pathway, with overlaps and crosstalks in between. Accumulating studies have identified the role of the microbiota-gut-brain axis in neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, and Rett Syndrome. Numerous researchers have examined the physiological and pathophysiological mechanisms influenced by the gut microbiota in neurodevelopmental disorders (NDDs). This review aims to provide a comprehensive overview of advancements in research pertaining to the microbiota-gut-brain axis in NDDs. Furthermore, we analyzed both the current state of research progress and discuss future perspectives in this field.
Humans ; Brain-Gut Axis ; Autism Spectrum Disorder/metabolism* ; Brain/metabolism* ; Gastrointestinal Microbiome ; Neurodevelopmental Disorders/metabolism*

Neural development is regulated by both external environment and internal signals, and in addition to transcription factors, epigenetic modifications also play an important role. By focusing on the genetic mechanism of ATP-dependent chromatin remodeling in children with neurodevelopmental disorders, this article elaborates on the effect of four chromatin remodeling complexes on neurogenesis and the development and maturation of neurons and neuroglial cells and introduces the clinical research advances in neurodevelopmental disorders.
Child ; Chromatin ; Chromatin Assembly and Disassembly ; Humans ; Neurodevelopmental Disorders/genetics* ; Neurogenesis ; Transcription Factors/genetics*