Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh

Abstract Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most patients. New-born screening program in any country focuses at the earliest detection of inheritance deficiency disorders in order to avoid the most severe repercussion by appropriate medication. This screening program needs a concomitant diagnosis and involves additional clinical research. Strategies from developed countries recommend that new-born screening should be done as soon as possible after birth before hospital/clinic discharge because if detected later, it conveys to significantly increase in disability as well as morbidity. Although exact protocol differs among different countries, testing procedures for PKU should be followed universally recognized in the developed world. Unfortunately, new-born screening program in Bangladesh is in lying-in room or possibly in pilot study in particular hospital, because the health-care system is classically targeted mortality (like childbirth complications) and transmittable morbidities (such as COVID-19) but not inborn frailties. Although policies and management of childbirth complications have been successfully lowered infant and mother mortality rates, the number of disabled babies increased tremendously. The study aims to investigate the current status of new-born screening (NBS) program of PKU in the Rajshahi Division Bangladesh, and focus on future plans to manage with life-long treatment. The primary challenges such as financial support for newborn screening, publicity, should be identified and implemented for national PKU-NBS policy as a role model of Bangladesh for developing countries.

Análise da compreensão de pais acerca do Teste do Pezinho / Parents' understanding about newborn screening

A Triagem Neonatal, mais conhecida como o Teste do Pezinho, é uma estratégia de saúde pública que visa à prevenção de seqüelas, como o retardo mental provocado por hipotireoidismo congênito e fenilcetonúria. Estas patologias apresentam-se freqüentemente assintomáticas nos primeiros meses de vida da criança. Entretanto, se forem diagnosticadas precocemente, existe alta probabilidade do tratamento prevenir suas graves conseqüências. O público-alvo da triagem são os recém-nascidos de 0 a 30 dias de vida, e os seus cuidadores primários desempenham papel crucial para que a prevenção ocorra. O objetivo desse trabalho foi fazer um levantamento das características da clientela atendida por um serviço de referência em Triagem Neonatal localizado na cidade de Belém-PA, e avaliar a compreensão dos pais e/ou cuidadores sobre a importância da realização do Teste do Pezinho. Aplicou-se um questionário para 200 participantes que concordaram em responder a um roteiro de entrevista e foi verificado se houve retorno para buscar o resultado do teste. Os resultados indicaram que a maioria dos participantes não possuía um bom entendimento sobre a importância do teste como recurso para promover prevenção em saúde da criança(AU)

Newborn screening, known mainly as PKU and CH screening or Guthrie test, is a public health strategy which aims at the prevention of mental sequels provoked by congenital hypothyroidism and phenylketonuria. These diseases do not usually cause symptoms during the first months of the child's life. However, if they are diagnosed precociously, there is a high probability that the treatment prevents its serious consequences. The test is performed in infants during their first 30 days of life, and their primary caregivers play a crucial role so that prevention occurs. The objective of this work was to study the characteristics of the people being assisted by a service of excellence in Newborn Screening located in the city of Bel‚m, state of Par , and to evaluate the understanding of parents and/or caregivers about the importance of the Guthrie Test. A questionnaire was applied to 200 participants, who had previously agreed to answer an interview script, and it was verified whether they returned to check the result of the test. The results indicated that most of the participants were not aware of the importance of the test as a resource to promote prevention in child's health.(AU)