Inborn Errors of Metabolism disorder causing intellectual disability: What is the role of newborn metabolic screening?
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AbstractIntellectual disability (ID) is one of the largest health care, economic, and social burdens in the modern health care system and society. It affects around 2-3% of children and adults worldwide. ID is a lifelong and debilitating condition; it is defined as a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains, and it is associated with a wide range of neurological disabilities, epilepsy, and behavioural symptoms with autism, hyperactivity, self-injurious behavior, and aggressive behaviour1. Of the diverse aetiologies of ID, more than 50% of them are genetic. Other aetiologies of ID may include antenatal, perinatal, and postnatal factors; it may result from neurological disease, infection, prematurity, intoxication, trauma, teratogens, and radiation. Children below 5 years of age, typically present with significant deficits (below 2 standard deviations) in two or more developmental domains, which is defined as global developmental delay. Genetic anomalies associated with ID include chromosomal abnormalities, copy number variation, methylation disorders, and single gene mutations. Disease-modifying therapy is not available for most ID patients with rare genetic conditions. Those with inborn errors of metabolism (IEM) represent a small subgroup, for some of which disease-modifying therapies are available. The outcome is expected be significantly improved if IEM patients are identified and treated before neurological injury occurs. Literature review showed that IEM disorders could be identified in 2.8% of ID patient with second line biochemical metabolic testing. Among inborn errors of metabolism, 81 disorders are identified as amendable to treatment2,3. The benefits of early intervention for treatable inborn errors of metabolism justify population-based screening, despite the low incidence of these disorders. This article highlights the history and principles of newborn metabolic screening, in addition the supplementary biochemical testing will be discussed as investigations for patient with intellectual disability.
All Author(s) ListJosephine Chong
Journal nameBRAINCHILD
Volume Number18
Issue Number2
PublisherThe Hong Kong Society of Child Neurology and Developmental Paediatrics
Place of PublicationHong Kong
Pages3 - 8
LanguagesEnglish-United Kingdom

Last updated on 2018-24-01 at 18:43