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NEW-BORN SCREENING FOR METABOLIC DISOR- DERS: THE NEED OFTHE HOUR
PUBLIC HEALTH
New-born screening for metabolic disorders: The need of the hour
Dr Sudheer Moorkoth,Professor and Head,Department of Pharmaceutical Quality Assurance Manipal College of Pharmaceutical Sciences,Manipal Academy of Higher Education & Dr Leslie Edward S Lewis,Professor & Head,Department of Paediatrics,Kasturba Medical College,Manipal Academy of Higher Education,Manipal explains about new born screening and highlights that studies indicate an urgent need for its implementation
What is new-born screening and whyis it needed?
New-born screening or NBS is a program for new-born babies aimed at detecting rare congenital metabolic disorders in children. These disorders are commonly called as Inborn Errors of Metabolism or IEM. Neonates born with these disorders will have a normal appearance and will have no detectable physical signs and the disease will go unnoticed. By the time symptoms appear, it will be too late to treat or manage the disorder. If not treated, these disorders will lead to mental retardation, disability or death. NBS is the only way to detect these disorders early in the new-born period.
There are as many as 500 IEMs which lead to congenital disorders. Vast number of these disorders are genetic in nature due to defects in the gene that codes for enzymes in various metabolic pathways such as carbohydrate metabolism, amino acid metabolism, fatty acid metabolism etc. These defects will lead to accumulation of toxic substances which interfere normal functioning of cells in our body leading to diseases.
HowNBS will help in overcoming the challenges
Early diagnosis of these disorders is a challenge for paediatricians since they will not present any symptoms in the new-born period. Most of the IEM cases are diagnosed after a few months or even after a few years of birth and by this time life threatening irreversible damage to brain or other disability has already been happened. Commonly manifested symptoms are unintended weight loss, tiredness, low blood sugar, poor feeding habits, vomiting, high levels of acid or ammonia in blood, mental retardation and convulsions.
Currently there are treatments available for many of these disorders. If detected early and started the treatment in the new-born period, the affected child can lead a normal life just like any other child. New-born screening (NBS) is the only way to pick up these disorders early so that the child can get an early intervention and treatment. NBS is a simple blood test where one drop of blood is collected from the heel of the baby with specially designed device onto a filter paper as a spot, which is tested for the panel of disorders. The test is minimally invasive with little discomfort to the baby.
Recognising the benefits of the programme, all the devel-
oped countries and many developing countries have implemented new-born screening programme for treatable IEM disorders as a national health programme.
Early diagnosis of these disorders is a challenge for paediatricians since they will not present any symptoms in the new-born period.Most of the IEM cases are diagnosed after a few months or even after a few years of birth and by this time life threatening irreversible damage to brain or other disability has already been happened
Where does India stand?
Being a country with the second largest population in the world, it is a sad truth that India has not implemented the NBS as a national health programme. As per the UNICEF data, everyday 67385 babies are born in India, which is one sixth of the world’s childbirth. Major obstacles in implementing the programme are the lack of awareness among its stakeholders, absence of incidence data on these disorders in the country, insufficient budget allocation for healthcare and lack of government policies Inadequate health education, early hospital discharges, and high number of out of hospital births are the other reasons.
To study the “need and viability of new-born screening programme in India”, the Centre of Excellence in Inborn Errors of Metabolism, Manipal Academy of Higher Education, Manipal has undertaken a project funded by the VGST, Government of Karnataka and Grand Challenges Canada, Government of Canada.
The study revealed a high incidence of IEM disorders in India for the selected disorders. As per the reports 1: 887 babies in India are born with congenital hypothyroidism (CH), 1: 118 babies with G-6PD deficiency, and 1: 4591 babies with Congenital Adrenal hyperplasia (CAH). Incidence rate for other IEM disorders are not available for India since studies are scarce. High incidence rate of the above three disorders is pointing to the urgent need for implementing the NBS for these disorders as a bare minimum programme in India to start with.
Implementing NBS for these three disorders could prevent the probable intellectual disability of 27,740 children yearly in India due to congenital hypothyroidism. Similarly, it would prevent the possibility of life-threatening complications from hemolysis due to G-6PDD deficiency in 2,08,415 babies every year in India. Abnormal sexual development, adrenal crisis, other morbidities and mortality due to congenital adrenal hyperplasia in 5,475 children every year in India could be prevented if we have the screening programme in place.
Takeaways:
Ensuring each new-born’s overall well-being by screening for rarely identified metabolic diseases is crucial to secure their health and provide each of them the best possible quality of life.
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