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.

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