OBJECTIVE: This study was designed to assess the level of caregiver burden of Filipino parents taking care of their children with developmental disabilities and to identify other factors contributing to their burden.
METHODOLOGY: The study participants were parents of children with developmental disabilities diagnosed in the Neuro-developmental Clinic of the University of Santo Tomas Hospital. They were asked to complete a survey, which included the following: 1) General demographics questionnaire that included the ff information: number of children, family income, marital status, educational level and occupation of the parents; 2) Adaptive behavior questionnaire designed to gather specific data about the abilities of the child with the disability; 3)Family Support Scale that measures the helpfulness of sources of support for families with developmentally disabled children, which is divided into informal support that included the patients, grandparents, siblings, relatives, church and government programs and the formal support, which included the physician, teachers and therapists; 4) Caregiver Burden Scale adapted from Zarit. The data was analyzed using frequency counts and percentages. Bivariate and multivariate analysis was used to determine the association of the data. A 95% confidence level was considered significant.
RESULTS: The majority (80%) of the caregivers were mothers, with a mean age of 38 years old, high school graduates and with an annual income of more than PhP 100,000. The families had an average of 1-2 children. The mean age of the children with disabilities was 6 years, and were categorized as having Global Developmental Delay [GDD] (50%), Mental Retardation [MR] (27%), Attention- Deficit Hyperactivity Disorder [ADHD] (13%) and Autism (10%). The level of burden seen among the caregivers was moderate, which was significantly associated with the annual income, severity of the disability, and the total family support score. Multivariate analysis showed that the severity of the developmental disability was an independent factor for caregiver burden.
CONCLUSION: This study provided evidence that both fathers and mothers of children with developmental disabilities seen in the Neurodevelopmental Clinic of the University of Santo Tomas Hospital experienced similar levels of stress as parents in the Western countries as well as feelings about lack of informal social support. High level of burden was significantly associated with an increased level of disability.

Human ; Male ; Female ; Adult ; Child ; Adaptation, Psychological ; Attention ; Attention Deficit Disorder With Hyperactivity ; Autistic Disorder ; Caregivers ; Developmental Disabilities ; Emotions ; Fathers ; Grandparents ; Intellectual Disability ; Marital Status ; Mothers ; Parents ; Siblings ; Social Support

One of the important prerequisites in developing health programs and policies for pediatric neurologic diseases is accurate information about the status of these diseases in the country. At present, there is no existing registry of pediatric neurological diseases in the country. The Child Neurology Society Philippines (CNSP) sought to develop and implement a national registry for pediatric neurologic diseases. Specifically, it aimed to 1.) determine a consensus for the purposes of the registry, 2.) develop an implementation system from data collection until information dissemination, 3.) install a system for evaluating data reliability, and 4.) establish a feedback system for improvement. Results showed that the CNSP members wanted a census of diseases, to use the data for research, to identify participants for a research study, and for epidemiological surveillance. Data collection is by filling up forms at the clinic level and its submission to the centralized encoder. Monthly and annual census of diseases are generated and e-mailed to each member who has subscribed to these reports. Custom reports may be produced when requested. Early challenges in the implementation of the database include negative personal preconceived ideas about the database, collecting data, possible ethical concerns, and logistical limitations.

Introduction: Leigh disease and Leigh-like syndrome are a heterogenous group of neurodegenerative disorders involving any level of the neuraxis and may present with a variety of clinical presentations, prominent among them is psychomotor regression. Despite the remarkable number of established disease genes and novel mutations being discovered, many cases of Leigh syndrome remain without a genetic diagnosis, indicating that there are still more disease genes to be identified. Case: Here we present a case of a two and a half-year-old girl who presented with delayed acquisition of developmental milestones with subsequent regression, ataxia, and dyskinesia. Her work-up showed raised blood lactate levels and lactate peak in MR spectroscopy. Mitochondria genome showed absence of mitochondrial DNA mutation, while whole exome sequence analysis revealed a novel dynein gene variant, p.A1577S. Her parents underwent genetic testing as well, and her father also had the same dynein mutation, however, is non-symptomatic. She had an older brother who initially presented with ophthalmoplegia and eventually developed psychomotor regression. He subsequently expired from respiratory failure after almost 2 years from initial presentation. Both siblings were diagnosed with Leigh syndrome. Conclusion The diagnosis of Leigh syndrome remains based on characteristic clinical and radiologic findings. However, a specific defect must be identified if reliable genetic counseling is to be provided.
Neurodegenerative Diseases|leigh Disease

Background : Caregiver burden and its impact on the quality of life is as important as determining the quality of life of children with epilepsy as these factors inl uence each other as well as the outcome of these children. Objectives : The primary objective of the study was to determine the association between caregiver burden and quality of life as well as anxiety and depressive symptoms among caregivers of Filipino children with epilepsy. Also, the study aimed to determine the prevalence rate of caregiver burden, impaired quality of life, anxiety, and depressive symptoms in an ambulatory care setting. Methodology : In this cross-sectional survey, adult caregivers accompanying their pediatric patients with epilepsy at a single tertiary center were recruited. Sociodemographic and clinical data were collected. The participants completed questionnaires for caregiver burden, quality of life, anxiety, and depressive symptoms. Results : Fifty-three caregivers participated with a mean age of 38 years. Most of them were females, married, unemployed, and at least college level. The mean age of their patients was 9.4 years and 71.7% of patients were on a single anti-epileptic drug. Lower educational level was less likely associated with caregiver burden. Although impaired quality of life and depressive symptoms were more likely associated with caregiver burden, this association did not reach statistical signii cance. Conclusion The prevalence rate of caregiver burden, impaired quality of life, anxiety, and depressive symptoms were 24.5%, 22.6%, 28.3%, and 9.4% respectively, among caregivers of Filipino children with epilepsy at a single tertiary center. Lower educational level was the only characteristic signii cantly associated with lesser odds of having caregiver burden
Caregiver Burden ; Quality of Life ; Anxiety ; Depression

The CNS Infection Censuses for 2011 and 2012 from 9 neurology training programs in 7 institutions in the Philippines were collated to determine the types of CNS infections seen in the country and their relative frequencies. A comparison with a similar survey done in 1999 was made. A total of 1629 cases of CNS infections were recorded. There were 23 categories. Bacterial meningitis (34.3%) and TB meningitis (30.7%) were the top two infections, constituting more than half of all CNS infections seen. When the adult and pediatric census were separated, TB meningitis came up to be the most common infection in adults (43%) with bacterial meningitis a poor second at 19.4%. The reverse is seen in the pediatric population – bacterial meningitis (41.7%) vs. TB meningitis (24.6%). Cryptococcal meningitis was more frequent in the adult census (8.1%) compared with the pediatric census (0.1%). These patterns were seen in a similar census done in 1999. A significant increase in relative frequency in cryptococcal cases was seen in the later census (2.8% vs. 2.0%), the increase being due to the marked increase in the adult group (8.1% vs. 4.3%), probably due to the upward trend in the incidence of HIV cases in the country. No increase in this category was seen in the pediatric population. The benefits of collaboration among institutions in coming up with a large number of cases of CNS infections and a greater variety to study was highlighted. The study was conducted by the CNS Infection Council of the Philippine Neurological Association.
Central Nervous System Protozoal Infections ; Censuses ; Philippines

Spinal muscular atrophy (SMA) is the most common inherited lethal disease in children. Confirmatory diagnosis is based on molecular genetic testing of survival motor neuron (SMN) genes. We aimed to describe the phenotypic presentation of Filipino infants and children with SMA based on the copy number analysis of SMN genes. Medical records of 17 Filipino children were reviewed from January 2017 to December 2019. De-identified clinical data fulfilled the diagnostic criteria defined by the International SMA Consortium. Among Filipino children, the predominant SMA type by copy number was type I having two copies of SMN2 gene. The clinical severity based on symptom onset and highest functional motor capacity attained correlated with SMN2 copy number congruent with existing data. A significant time lag between symptom onset to confirmation of genetic diagnosis was noted. Nine out of the 17 (52%) children did not have a family history of the disease, raising the possibility of mutation carriers in these families since the incidence of de novo mutations in literature is about 2%. These data offered the first epidemiological pattern of genetically confirmed SMA among Filipino children; provided additional information for genetic counselling; and an avenue to consider pre-symptomatic newborn screening and carrier testing that would change proactive measures and opportunities for therapy. These measures unavoidably will decrease the incidence and prevalence of disease in the future.
Muscular Atrophy, Spinal