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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 10/2016

01-10-2016 | Review Article

Genetic Approach to Diagnosis of Intellectual Disability

Authors: Ratna Dua Puri, Moni Tuteja, I. C. Verma

Published in: Indian Journal of Pediatrics | Issue 10/2016

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Abstract

Intellectual disability is a non-specific phenotype present in a genetically heterogeneous group of disorders. It is characterized by deficits in intellectual and adaptive functioning, presenting before 18 y of age. Identifying the cause of ID is important to provide treatment where available, genetic counseling, recurrence risks and reproductive options for subsequent pregnancies. Advances in technology, especially next generation sequencing and microarrays, have greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the points in history taking and examination in the evaluation of a proband, and discusses the proper use of newer diagnostic technologies.
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Metadata
Title
Genetic Approach to Diagnosis of Intellectual Disability
Authors
Ratna Dua Puri
Moni Tuteja
I. C. Verma
Publication date
01-10-2016
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 10/2016
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-016-2205-0

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