Clinical profile of genetically confirmed Spinal Muscular Atrophy (SMA) Among Filipino children less than 18 years old

@#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.

Leigh Syndrome in a Filipino Child: A case report

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.

We got to move it, move it: The lived experiences of family carers of youth with chronic neurodevelopmental disorders as they enter into adult health care

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.

Burden of care of Filipino children with epilepsy and its impact on quality of life, anxiety and depressive symptoms among caregivers

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