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Genetic Approach to Diagnosis of Intellectual Disability

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An Erratum to this article was published on 01 December 2016

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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Contributions

MT: Manuscript preparation; ICV: Editing and scientific advisor; RDP: Manuscript preparation, editing and will act as guarantor for this paper.

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Authors and Affiliations

  1. Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India

    Ratna Dua Puri, Moni Tuteja & I. C. Verma

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  1. Ratna Dua Puri
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  2. Moni Tuteja
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  3. I. C. Verma
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Correspondence to Ratna Dua Puri.

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An erratum to this article is available at http://dx.doi.org/10.1007/s12098-016-2252-6.

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Puri, R.D., Tuteja, M. & Verma, I.C. Genetic Approach to Diagnosis of Intellectual Disability. Indian J Pediatr 83, 1141–1149 (2016). https://doi.org/10.1007/s12098-016-2205-0

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