BACKGROUND<p style="text-align: justify;" data-mce-style="text-align: justify;">Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.p>OBJECTIVE<p style="text-align: justify;" data-mce-style="text-align: justify;">This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.p>METHODS<p style="text-align: justify;" data-mce-style="text-align: justify;">The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.p>RESULTS<p style="text-align: justify;" data-mce-style="text-align: justify;">Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.p>CONCLUSION<p style="text-align: justify;" data-mce-style="text-align: justify;">Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.p>
Human ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Adolescent: 13-18 Yrs Old ; Learning Disorders ; Brain ; Diagnosis

OBJECTIVES<p style="text-align: justify;" data-mce-style="text-align: justify;">This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines.p>METHODS<p style="text-align: justify;" data-mce-style="text-align: justify;">Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented.p>RESULTS<p style="text-align: justify;" data-mce-style="text-align: justify;">Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively.p>CONCLUSIONS<p style="text-align: justify;" data-mce-style="text-align: justify;">While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.p>
Human ; Quality Of Life ; Autistic Disorder ; Child ; Language Therapy

Background: Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia. Objective: This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team. Methods: The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described. Results: Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder. Conclusion Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

Objectives: This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines. Methods: Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented. Results: Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively. Conclusions While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.
Quality of Life ; Autistic Disorder ; Child

BACKGROUND AND OBJECTIVES<p style="text-align: justify;" data-mce-style="text-align: justify;">The Department of Clinical Epidemiology (DCE) of the University of the Philippines Manila is the only higher education institution in the Philippines offering graduate studies in clinical epidemiology. The Master of Science Epidemiology (Clinical Epidemiology) was first offered in 1992, while the Diploma in Epidemiology (Clinical Epidemiology) was offered in 1998. While the courses of the programs are continuously updated based on students’ feedback and advances on topics covered, the point of view of the students and alumni on the program as a whole has not been done. This study aimed to determine 1) self-reported current positions and affiliations, work areas where clinical epidemiology (CE) training is useful, and skills gained from CE training; 2) research studies completed and deemed by respondents to have considerable impact; and 3) strengths, weaknesses, and areas of improvement of the DCE graduate programs.p>METHODS<p style="text-align: justify;" data-mce-style="text-align: justify;">This is an online survey of students and alumni of the DCE graduate programs. We sent email invites to all 287 students and alumni. We collected data on their profession, institutional affiliations, positions, skills gained from their training, areas of clinical epidemiology applications, important research involvement, reasons for recommending or not recommending the programs, and how the graduate programs can be improved. Responses were summarized by frequencies and percentages. An analyst performed qualitative content analysis (QCA) to generate strengths and weaknesses of the program. We validated the results of the QCA through 1) presentation to the research team, 2) sending the survey report to study participants and other students and alumni for feedback, and 3) presentation to the DCE faculty and staff.p>RESULTS<p style="text-align: justify;" data-mce-style="text-align: justify;">We received 159 responses (55.4% of the total study population)—145 (91.2%) were from the MSc program and 11 (6.9%) were from the Diploma program. Majority of the respondents were physicians (93.7%), had hospital affiliations (81.8%), and were affiliated with the academe (61%). Majority of the respondents used clinical epidemiology in their research endeavors (87.4%), clinical practice (85.5%), and teaching (78%). Majority (93.1%) would recommend the program they have taken. Eleven (6.9%) respondents were hesitant due to the possible mismatch with the students’ career path, challenging thesis work, and potential conflicting personal responsibilities. Several strengths of the programs were identified, including excellent and well-implemented programs, supportive faculty and staff, and relevant course work. While completing the course work had not been a problem in general, the main challenge encountered by students is the completion of their thesis, leading to a low graduation rate in the Master of Science program. Suggestions to improve the Master of Science and Diploma programs include 1) Improvement in program implementation, including thesis policies and support, smoother transition from Diploma to MSc Program and vice-versa, and implementation of a blended learning platform; 2) Curricular improvements such as wider choices for electives and tracking towards specialty areas; 3) Innovations in conduct of courses; and 4) Personnel and infrastructure development.p>CONCLUSION<p style="text-align: justify;" data-mce-style="text-align: justify;">This survey reiterated the importance of clinical epidemiology graduate programs in research capacity building of health care professionals. Students and alumni occupied diverse positions in academic, research, clinical, and pharmaceutical setting, and majority accomplished research studies with considerable impact. A major challenge leading to a low graduation rate in the Master of Science program is the completion of thesis work. The survey identified several initiatives towards continuous quality improvement of clinical epidemiology programs, including improvement of thesis policies and support, updating the curriculum content and materials, increasing allotment of hours for hands-on activities, exploring possibilities of offering electives in partnership with other institutions, offering a blended learning platform, maintaining an efficient administrative support for students, and continuing education for alumni. Strong institutional support for personnel and infrastructure development is essential for these initiatives to succeed.
p>
Cross-sectional Studies

Objectives: Adherence to clinical practice guidelines (CPG) has been shown to reduce inter-physician practice variation and improve quality of care. This study evaluated guideline adherence of physicians in two tertiary public hospitals to local CPG on COVID-19. Methods: This was a multicenter, retrospective chart review, rapid assessment method study. Guideline adherence and non-adherence (overuse and underuse) to 15 strong recommendations in the prevailing Philippine COVID-19 Living Recommendations were assessed among a sample of patients admitted in two centers from July to October 2021. Differences in adherence across COVID-19 disease severities and managing hospital units were analyzed. Results: A total of 723 patient charts from two centers were reviewed. Guideline adherence to dexamethasone use among patients with hypoxemia is 91.4% (95% CI 88.6 to 93.6) with 9.2% overuse. Tocilizumab was underused in 52.2% of patients with indications to receive the drug. There was overuse of empiric antibiotics in 43.6% of patients without suspicion of bacterial coinfection. Lowest adherence to antibiotic use was seen among patients with critical disease severity and those managed in the intensive care unit. None of the other non-recommended treatment modalities were given. Conclusion Management of COVID-19 in both centers was generally adherent to guideline recommendations. We detected high underuse of tocilizumab probably related to the global supply shortage during the study period and high overuse of antibiotics in patients without suspicion of bacterial coinfection. While the results of this study cannot be generalized in other healthcare settings, we recommend the application of similar rapid assessment studies in guideline adherence evaluation as a quality improvement tool and to identify issues with resource utilization especially during public health emergencies.
Guideline Adherence ; COVID-19 ; Quality Improvement

Background: The benefits of infant massage in hospital and community settings have been documented in literature: better weight gain of preterm and low birthweight infants, shortened hospital stay, slightly better scores on developmental tests, fewer postnatal complications, and effects on physical and mental health. Objectives: This study described the perceptions and experiences of infant massage among caregivers of infants 2-6 months old consulting in two public health centers in Quezon City before and after infant massage training. Methods: This qualitative study assessed perceptions and experiences at baseline and after infant massage training of mothers and caregivers taking care of infants 2-6 months old. Pre-training interviews were conducted, as well as immediately after, and seven days after training on infant massage delivered by the Philippine League of Government and Private Midwives, Inc. (PLGPMI). Training consisted of lectures and demonstrations, after which mothers/caregivers gave their babies the massage under the trainer's supervision. Post-training interviews were conducted immediately after the training and seven days after. Responses to the interviews were transcribed. The transcripts and interview notes were analyzed independently by two research team members. Qualitative Content Analysis (QCA) was done. Disagreements were settled by discussion. Results: The infant’s mother was identified as the best person to perform infant massage. Infant massage was a new concept to many participants before the training. In general, the perception was positive. It was believed to promote the baby's physical development and bonding with the mother/caregiver. These same benefits were reported after the training. Post-training, all 11 participants who returned for follow-up interviews reported having massaged their babies at home. They were also able to describe the process and timing of massage as taught to them. The participants’ responses centered on seven (7) identified themes, identified at baseline and after training: 1) general concepts of infant massage, 2) benefits of infant massage, 3) methodologies, materials, and considerations, 4) persons credible to perform infant massage, 5) application/performance of infant massage, 6) intentions and 7) infant massage as a public health measure. Conclusion There was a positive perception of infant massage among mothers and caregivers of infants 2-6 months old, whether or not they had prior knowledge. The sharing of information and the training given enhanced this. Participants showed good reception and retention of infant massage's basic concepts and process and improved their confidence in handling their babies and massaging them.
Mother-Child Relations ; Caregivers ; Health Education ; Community Health Centers

Objectives: Adherence to clinical practice guidelines (CPG) has been shown to reduce inter-physician practice variation and improve quality of care. This study evaluated guideline adherence of physicians in two tertiary public hospitals to local CPG on COVID-19. Methods: This was a multicenter, retrospective chart review, rapid assessment method study. Guideline adherence and non-adherence (overuse and underuse) to 15 strong recommendations in the prevailing Philippine COVID-19 Living Recommendations were assessed among a sample of patients admitted in two centers from July to October 2021. Differences in adherence across COVID-19 disease severities and managing hospital units were analyzed. Results: A total of 723 patient charts from two centers were reviewed. Guideline adherence to dexamethasone use among patients with hypoxemia is 91.4% (95% CI 88.6 to 93.6) with 9.2% overuse. Tocilizumab was underused in 52.2% of patients with indications to receive the drug. There was overuse of empiric antibiotics in 43.6% of patients without suspicion of bacterial coinfection. Lowest adherence to antibiotic use was seen among patients with critical disease severity and those managed in the intensive care unit. None of the other non-recommended treatment modalities were given. Conclusion Management of COVID-19 in both centers was generally adherent to guideline recommendations. We detected high underuse of tocilizumab probably related to the global supply shortage during the study period and high overuse of antibiotics in patients without suspicion of bacterial coinfection. While the results of this study cannot be generalized in other healthcare settings, we recommend the application of similar rapid assessment studies in guideline adherence evaluation as a quality improvement tool and to identify issues with resource utilization especially during public health emergencies
Guideline Adherence ; COVID-19 ; Quality Improvement

<p>OBJECTIVE: X-linked dystonia parkinsonism (XDP) is an adult-onset, progressive and debilitating movement disorder described among Filipino males from Panay Island. The available oral medications have been ineffective. While chemodenervation with botulinum toxin A works and deep brain stimulation surgery is promising, these are not affordable for the vast majority of patients. Thus, we decided to look into the efficacy, safety and tolerability of levodopa+carbidopa (levodopa) versus placebo among patients with XDP.p><p>METHODS: This was a double blind, randomized, placebo-controlled clinical trial. Patients were randomized to receive levodopa or placebo for 6 months. The dose was increased gradually until 1000 mg levodopa/day is reached or until side effects appear.p><p>RESULTS: A total of 86 out of 94 randomized patients (91.5%) were included in the intention-to-treat cohort for the primary efficacy analysis. Nineteen patients (9 in levodopa, 10 in placebo) dropped out or were lost to follow up. There was no significant difference in the baseline and last visit Burke Fahn Marsden Dystonia Rating Scale and the part III of the Unified Parkinson's Disease Rating Scale scores between levodopa and placebo. The most common adverse events in the levodopa group were increased movements, pain and nausea/ vomiting.p><p>CONCLUSION: While levodopa is safe and well-tolerated, it does not have any effect in alleviating the dystonia or parkinsonism in XDP.p>
Human ; Dystonia ; Parkinsonian Disorders ; Levodopa ; Carbidopa ; Parkinson Disease

<p style="text-align: justify;">BACKGROUND: Republic Act 9288 or the Newborn Screening Act of 2004 was enacted. A multi-sector effort towards systematic screening of newborn disorders and built-in systems for subsequent confirmatory tests for positively screened as well as treatment for confirmed cases was likewise implemented. Despite multi-sector efforts and continuous quality improvement mechanisms, national newborn screening coverage remained low for several years.p><p style="text-align: justify;">OBJECTIVE: The study determined factors that influence Newborn Screening (NBS) uptake from various perspectives: mothers, health providers, and program administrators.p><p style="text-align: justify;">METHODS: Framework analysis of NBS program documents, 25 focus group discussions and 37 key informant interviews of mothers, health providers and program administrators were done in purposively selected communities in the Cordillera Administrative Region and Region V.p><p style="text-align: justify;">RESULTS AND CONCLUSIONS: Findings showed the need to disseminate correct NBS procedures, especially upon obtaining positive results. Financing issues were addressed innovatively, but system administrators and health providers required a common understanding of program implementation. Monitoring geographically hard-to-reach areas remained a challenge. Barriers outside the system adversely affected filter cards availability, specimen transport, and release of results. Improved online and paper-based educational campaign, greater local government unit support, streamlined PhilHealth processes, a workload-based manpower complement for monitoring, and continuity clinics to handle positive findings can increase NBS uptake.p>
Neonatal Screening ; Attitude