Mitochondrial respiratory chain disorders have very diverse manifestations and can present with any symptom, in any organ at any time. Here we describe two Filipino children confirmed to have a mitochondrial respiratory chain disorder after presenting with non-specific neurologic symptoms. The first patient had Otahara syndrome and was later on found to have complex I deficiency. The second patient had the m.8993T>G mtDNA mutation that was consistent with a Leigh phenotype.
Human ; Female ; MITOCHONDRIAL DISEASES ; NUTRITIONAL AND METABOLIC DISEASES ; METABOLIC DISEASES

Newborn screening (NBS) was introduced in the Philippines in 1996. After 12 years of implementation, a review of performance of the NBS facilities shows that there is a wide range of NBS performance from zero to 100%. This paper aims to review the NBS facilities (NSFs) that have at least 90% NBS coverage and to identify the successful strategies that have pushed the high coverage.

Neonatal Screening ; Philippines

Human ; Infant Newborn ; Neonatal Screening ; Policy ; Research

BACKGROUND: Neonatal mass screening has led to the early diagnosis and management of congenital endocrine and metabolic diseases. The effectiveness and efficiency of neonatal screening had been well established for congenital hypothyroidism (CH) in other settings.

OBJECTIVES: 1) To determine the incidence of CH; and 2) To determine whether a newborn screening program (NSP) for CH is cost-beneficial from a societal perspective.

DESIGN: Screening survey with cost-benefit analysis.

SUBJECTS AND METHODS: Newborns from the original 24 hospitals in Metro Manila that started newborn screening were screened for CH after the 48th hour of life. Confirmatory tests were performed for those who screened positive. Using the incidence from the survey, the costs for the detection and treatment of CH were compared to the projected benefits of preventing the mental retardation and consequent productivity losses. Sensitivity analyses for incidence rates, discount rates and timing of blood collection were included.

RESULTS: A total of 28,088 newborns (40% of 69,391 live births) were screened. Ninety-two were recalled for confirmatory testing after the initial screen; 8 were diagnosed with CH. Assuming that a cohort of 200,000 newborns would be screened in one year, the net costs for the screening program were US$ 2.4M. If the timing of blood collection was after the 24th hour, there was instead a net benefit of US$ 0.6M. The incidence of CH among the hospital admissions in Metro Manila was 0.037% (95% CI 0.009 - 0.064%).

CONCLUSIONS: The net cost of a screening program for CH taken after 48 hours was US$ 2.4M. Newborn screening for CH was cost-beneficial if blood collection occurred after the 24th hour so that expense of an additional hospital day was not incurred. In order to realize the costing benefits illustrated by this study, the timing of sample collection was moved to a day earlier (after 24 hours of age) beginning in 2000.

Human ; Male ; Female ; Infant Newborn ; Congenital Hypothyroidism ; Neonatal Screening ; Cost-benefit Analysis ; Intellectual Disability ; Live Birth ; Early Diagnosis ; Specimen Handling ; Metabolic Diseases

Newborn Screening in the Philippines began as a small pilot project in Manila in 1996 and has expanded to a nationwide program screening for 5 conditions today. Along the way, professional, political and public support has increased. As a result, a national law requiring the offering of screening to all newborns was put into place. The Department of Health (DOH) is actively providing follow-up support, and the National Institutes of Health - University of the Philippines Manila (NIH) provides laboratory and technical expertise. Expansion has evolved to the point that there are now two DOH accredited screening laboratories with further expansion anticipated. The Newborn Screening Reference Center at the NIH has partnered with the DOH to develop a performance evaluation and assessment scheme (PEAS). The Philippine PEAS is designed to monitor quality and improvements made in the regional DOH screening program. The Philippine PEAS was developed building on a PEAS previously developed by the US National Newborn Screening and Genetics Resource Center, and we report here the development, implementation and results of the Philippine PEAS.

Neonatal Screening ; Peas ; Philippines ; Laboratories ; National Institutes Of Health (u.s.) ; Professional Competence ; Health Resources

Newborn Screening is a well recognised public health programme aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants. Establishing sustainable newborn screening programmes in developing countries poses major challenges as it competes with other health priorities--infectious disease control, immunisation, malnutrition, etc. Despite this, it is imperative that developing countries recognise the importance of newborn screening based on experiences on both developed and developing countries in saving thousands of babies from mental retardation, death and other complications. Some of the critical factors necessary for a successful national newborn screening programme are inclusion of newborn screening among government priorities, funding (including the possibility of newborn screening fees), public acceptance, health practitioners cooperation, and government participation in institutionalising the newborn screening system. This paper presents a historical review of 4 eras of newborn screening in the Asia Pacific, discusses enabling factors leading to successful newborn screening programme implementation, and identifies obstacles that threaten the programme implementation in developing countries.
Developing Countries ; Humans ; Infant, Newborn ; Neonatal Screening ; standards

Iodine deficiency remains a global concern for developing countries and some industrialised countries. Iodine deficiency is the most common cause of preventable mental retardation, posing a threat to the social and economic development of countries. Initiatives were developed and instituted to accelerate progress to achieve the goal of universal salt iodisation (USI). However, these efforts were not successful in eliminating iodine deficiency disorders (IDD) in some countries. Every year, 50 million children are born without the protection that iodine offers to the growing brain and body and about 18 million suffer some significant degree of mental impairment. The World Health Organization (WHO), United Nations Children's Fund (UNICEF) and non-governmental organisations assist to ensure that populations at risk have access to iodised salt. This paper will review the highlights of iodine deficiency and present the experiences in the various countries in Asia, i.e. assessments of the situation, action plans, and obstacles to implementation.
Deficiency Diseases ; prevention & control ; Humans ; Iodine ; deficiency

Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening brought hope with early diagnosis and prompt treatment. Newborn screening advocates have pushed for inclusion of galactosemia in the newborn screening panel. However, reports of complications despite early treatment have questioned the merits of universal screening. This paper presents issues in favour and against universal newborn screening for galactosemia.
Galactosemias ; diagnosis ; Humans ; Infant, Newborn ; Neonatal Screening ; standards

Background. Newborn screening for congenital hypothyroidism (CH) in the Philippines was introduced in 1996. It is universally accepted that early detection through newborn screening and timely treatment can improve the physical and neuro-cognitive development of patients. As of December 2010, the prevalence of CH is 1 in 3,324 among 2,389,959 newborns screened. Objective. We sought to evaluate the role of timing of diagnosis, compliance with treatment, and specialist care on growth and development (mental and physical) of patients with congenital hypothyroidism detected through newborn screening. Methods. Of the 326 patients identified through newborn screening between July 1996-December 2008 at the Newborn Screening Center-National Institutes of Health, 86 patients participated in the study. With the parents' or guardians' consent, general physical examination and neuro-cognitive evaluation were done; FT4 and TSH were determined. Prevalence of poor control of disease (high TSH with normal or low FT4 or normal TSH with low FT4), stunting, and cognitive delay were each estimated at 95% confidence level and the associations of early diagnosis, initial and continuing specialist care with these conditions were determined by multiple logistic regression analyses. Results. The prevalences (95% confidence interval) were: poor control of disease 63% (52-73%), stunting 24% (15-34%) and neuro-developmental delay 17% (8-25%). Delay in one aspect of neuro-development was seen in 54% (43-66%). Early diagnosis was protective against poor control of disease (adjusted Odds Ratio, ORa=0.24 [CI: 0.08-0.77]). Trends towards protection were seen for initial and continuing specialist care. For delay in at least one cognetive aspect, early diagnosis was found to be protective (ORa=0.19 [CI 0.05-0.76]); results for specialist care were inconclusive. For stunting, low parent education was found to be a risk factor. (ORa of 5.45 [CI: 1.3-22.7]). Conclusion. Fifty-four percent of the study patients had delay in one aspect of neuro-development. While other factors play a role in the outcome of CH, early diagnosis and treatment were shown to be protective of patients from poor control of disease and cognitive delays. Observed trends of positive benefits of specialist care at onset and continuing medical management, and the association of low parent education with poor growth should be considered in drafting specific guidelines for the long term follow-up care and monitoring of CH patients detected through newborn screening. The low percentage of participation and incomplete retrieval of information are major limitations of this retrospective study. This stresses the need for better monitoring tools that will ensure proper tracking, medical care and evaluation of CH patients.
Infant ; Infant Newborn ; EARLY DIAGNOSIS ; DIAGNOSIS ; CONGENITAL HYPOTHYROIDISM ; NEONATAL SCREENING ; DIAGNOSTIC TECHNIQUES AND PROCEDURES ; CLINICAL LABORATORY TECHNIQUES ; GROWTH AND DEVELOPMENT ; THERAPY ; THERAPEUTICS ; COMPLIANCE

Introduction. Recurrent pregnancy loss is a devastating reproductive problem that affects 5% of couples trying to conceive. Majority of the cases are due to cytogenetic errors. This study determines the prevalence of chromosomal structural abnormalities in Filipino couples who presented with 2 or more pregnancy losses. Methods. Results from chromosomal analysis of couples referred for 2 or more miscarriages done at the Institute of Human Genetics-National Institutes of Health-University of the Philippines, Manila on peripheral blood samples from 1991 to 2010 were restrospectively reviewed. Results. There were 356 couples with a history of 2 or more miscarriages sent for chromosomal analysis from 1991-2010 included in this study. Among these 356 couples, 17 couples (4.8%) were found to be carriers of different chromosomal abnormalies. From a total of 18 cases, there were 13(3.6%) translocations, 1(0.3%) insertion, 2(0.6%) with marker chromosomes, 1(0.3%) pericentric inversion and 1(0.3%) deletion. Conclusion. The overall frequency of chromosomal structural abnormalities among patients with RPL in this study is 4.8% with translocations being the most common type detected. The results of this study are similar to that of previous large-scale studies which have demostrated that parental chromosomal abnormalities are associated with RPL.
Male ; Female ; RECURRENCE ; PREGNANCY ; CHROMOSOME ABERRATIONS ; ABORTION, SPONTANEOUS ; FEMALE UROGENITAL DISEASES AND PREGNANCY COMPLICATIONS ; PREGNANCY COMPLICATIONS ;