Neurobehavioural and Autism Spectrum Disorders associated with Inborn Errors of Metabolism - current concepts

ICNC2024
Symposia: Neurometabolic Disorders: Current Status and Challenges For Low Middle Income Countries

Neurobehavioural and Autism Spectrum Disorders associated with Inborn Errors of Metabolism - current concepts
Bithi Debnath

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication and social interaction. The prevalence has been on the rise over the last three decades. There is growing evidence showing an association between ASD and inborn errors of metabolism (IEM), although the exact mechanism of how the metabolic dysfunction produces an autism phenotype is not clear. Metabolic disorder presenting with autism phenotype is very rare. Recent surveys have shown that about 5% children with autism may have an IEM. However, the exact estimates could not be made due to the scarcity of adequate population-based studies. Presence of IEM in ASD patients may be delayed leading to irreversible neurologic damage since metabolic screening is not a routine practice in many countries in these patients. So, the diagnostic algorithm of patients with syndromic ASD warrants inclusion of screening for IEM. Better understanding of the molecular and the pathophysiologic basis of some of IEM and autism will encourage more research on the treatment of autism in the near future. We emphasize the need for metabolic screening of ASD patients, especially in communities with higher rates of consanguinity.

Other Lectures related to this symposium
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