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

Administrator: Biju Hameed, M42

The burden of inherited metabolic disorders in Bangladesh and current research priorities
Nazmul Hoque

Inherited metabolic disorders (IMDs) encompass a group of disorders due to defective metabolic processes. The prevalence of IMDs in Bangladesh a low income country is not well-documented due to limited diagnostic facilities and lack of awareness among healthcare professionals and the general population.However, several studies have attempted to estimate the prevalence of specific IMDs in Bangladesh for eg the prevalence of phenylketonuria (PKU), a rare metabolic disorder that affects the breakdown of the amino acid phenylalanine, to be 1 in 6,571 live births in Bangladesh. Other IMDs that have been reported in Bangladesh include maple syrup urine disease, galactosemia, and glycogen storage diseases. However, the true prevalence of these disorders and their neurological comorbidities is not well-known due to limited diagnostic facilities and the lack of a comprehensive national registry for IMDs. Overall, the prevalence of IMDs in low income countries is likely to be underestimated due to the lack of awareness and diagnostic facilities. This talk will describe the spectrum of IMDs seen, challenges faced in reaching a diagnosis, difficulties encountered in treatment and follow-up and address strategies for improving the availability and accessibility of diagnostic tests, increasing awareness among healthcare professionals and the general population, and establishing genetic and metabolic services including a national registry for IMDs with a focus on Bangladesh.

 

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.

 

Movement Disorders associated with Inborn Errors of Metabolism
Lee-Chin Wong

Neurometabolic diseases are an important and heterogeneous group of diseases.There is also diagnostic challenge for different neurometabolic diseases. The clinical manifestations of neurometabolic diseases may be varied. In addition to the neurological presentations related to the underlying neurometabolic disease, there are other different clinical manifestations, including movement disorders. There are also different types of movement disorders in neurometabolic diseases, including chorea or dyskinesia. The movement disorders in children with neurometabolic diseases may arise from the involvement of basal ganglion or caudate nuclei, such as mitochondrial diseases or other metabolic diseases. They may also arise from the impairment of neurotransmitter synthesis, such as neurotransmitter diseases.Recognizing the specific movement disorders may also lead to correct diagnosis in the patients, especially for neurotransmitter disease. In my talk, I will summarize the clinical presentations of different movement disorders, and discuss about the diagnostic algorithm related to neurometabolic diseases and movement disorders.The treatment for specific neurometabolic diseases and movement disorders will also be discussed. We hope that after the symposium the audience, including general neurologists, may understand the diagnosis and treatment of movement disorders in children with neurometabolic diseases.

 

Managing the neurodisability in neurometabolic disorders under the International Classification of Functioning (ICF), Disability and Health
Biju Hameed

The management of neurometabolic disorders and their associated neurodisability in limited resource settings can be challenging due to the lack of resources, expertise, and infrastructure. However, a goal-oriented approach can help guide the management of these conditions and optimize outcomes. The International Classification of Functioning, Disability and Health (ICF) provides a framework for the assessment and management of disability in individuals with neurometabolic disorders. The ICF framework includes three domains: body functions and structures, activities and participation, and environmental factors. Approaches using the ICF framework can help guide a comprehensive assessment and management of neurodisability in individuals with neurometabolic disorders. By addressing the specific impairments, limitations, and barriers associated with these disorders, the ICF framework can help improve functional outcomes, optimize participation, and enhance quality of life for individuals. Based on the specific goals and assessments, the multidisciplinary team can develop a tailored management plan that includes targeted interventions, such as medication, specialized diets, physical therapy, occupational therapy, speech therapy, or assistive devices. The plan should also address any environmental barriers or limitations that may affect the individual's participation and functional outcomes. The proposed talk would address these concepts using exemplar cases.