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Abstract

October-December 2016 | Vol. 9 | Issue 4 | Page No 13-17
Diagnostic Yield of Exome Sequencing in Neurodevelopmental Disorders
Moirangthem Amita and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
Neurodevelopmental disorders affect around 3-5% of the population. These are heterogeneous in etiology and more befittingly termed “symptom complexes”. The various disorders presenting with intellectual disability may be congenital or acquired, sporadic or familial, syndromic or non-syndromic. Severe neurodevelopmental disorders are mostly genetic in origin and may be due to a molecular defect at the chromosomal or single gene level or due to epigenetic abnormalities. Till date more than 450 genes have been implicated in intellectual disability. One may wonder as to what is the need for an etiological diagnosis when majority of these cases cannot be cured. However, diagnosis is a key element in the management of the patient, for explaining the course and prognosis, and for provision of appropriate care and support system. It precludes subjecting the patient to unnecessary and redundant tests and interventions. It is essential for proper counseling of the family regarding the recurrence risks and prenatal diagnosis, and also for access to research treatment protocols. The family’s “need to know” has an enormous emotional impact and cannot be ignored. The elucidation of the underlying molecular abnormalities is another important step towards developing treatment strategies (Willemsen et al., 2014).
 
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