Evidence map›Paper›PMID 23041737›Full record

ArticleThe Indian journal of medical research2012

Aetiologic spectrum of mental retardation & developmental delay in India.

Shagun Aggarwal, Vijay Raju Bogula, Kausik Mandal, Rashmi Kumar, Shubha R Phadke

Abstract read
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Article in The Indian journal of medical research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Shagun AggarwalDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Vijay Raju Bogula
Kausik Mandal
Rashmi Kumar
Shubha R Phadke

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND &

objectivesThe aetiology of mental retardation is varied and difficult to establish. Reports from India on the spectrum of underlying causative conditions are lacking. This retrospective study was conducted to establish the various aetiologies of mental retardation (MR) and developmental delay (DD) in patients attending a medical genetics centre in north India and to assess the contribution of genetic disorders.

methodsThis retrospective study was conducted at a tertiary care centre in north India. All patients attending the centre with MR or DD from January 2007 to December 2009 were included. The aetiology of MR/DD was ascertained after clinical assessment and targeted laboratory evaluation. The spectrum of causative conditions and contribution of genetic disorders was established.

resultsA total of 338 patients were included in the study, of whom definite diagnosis was established in 253 (74.8%). The various aetiological categories were: chromosomal disorders in 112 (33.1%), non chromosomal syndromes in 32 (9.5%), neurometabolic disorders in 34 (10.1%), central nervous system structural defects in 25 (7.4%), cerebral palsy in 43 (12.7%) and environmental insults in 7 (2%). Eighty five patients (25.2%) had idiopathic mental retardation. A total of 196 (58%) patients had a genetic disorder as the cause of MR/DD. INTERPRETATION &

conclusionsThe aetiology of MR/DD is varied and difficult to establish in a significant proportion of patients. Chromosomal and various monogenic disorders contribute to a large number of MR/DD cases and hence a genetic work up is essential for all such patients.

Indexed as

AdolescentAdultChildChild, PreschoolDevelopmental DisabilitiesFemaleHumansIndiaInfantIntellectual DisabilityMaleRetrospective Studies

Identifiers

PMID23041737
PMCPMC3510890

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