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Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis

Silky Jain1, Veena Chowdhury, Monica Juneja

  • 1Departments of Pediatrics and *Radio diagnosis, Maulana Azad Medical College, and #Department of Pediatrics, All India Institute of Medical Sciences; New Delhi, India. Correspondence to: Dr Seema Kapoor, Professor, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110 002, India. drseemakapoor@gmail.com.

Indian Pediatrics
|June 27, 2013
PubMed

Insights

This study investigated the causes of intellectual disability in children using a structured approach. Genetic factors were the most common cause, identified in over 60% of cases, highlighting the importance of genetic testing.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Developmental Pediatrics

Background:

  • Intellectual disability (ID) is a significant developmental concern in children.
  • Accurate etiological diagnosis is crucial for management and genetic counseling.
  • An algorithmic approach can optimize diagnostic yield in children with ID.

Purpose of the Study:

  • To determine the clinico-etiological profile of children with intellectual disability.
  • To evaluate the effectiveness of an algorithmic diagnostic approach for ID in children.
  • To identify the prevalence of different etiological categories contributing to ID.

Main Methods:

  • A cross-sectional study was conducted on 101 children aged 3 months to 12 years with confirmed intellectual disability.
  • A structured proforma was used for assessment, followed by a targeted diagnostic schema including biochemical, audiological, neurological, and neuroimaging investigations.
  • Genetic testing encompassed karyotyping, Fragile X molecular studies, MLPA, and Array CGH.

Main Results:

  • The etiological yield was 82.1%, with genetic causes being the most frequent (61.4%).
  • Other identified causes included perinatal (20.4%), CNS malformations (12%), prenatal (3.6%), and postnatal (2.4%).
  • Intellectual disability severity ranged from mild (11.7%) to profound (35.6%).

Conclusions:

  • A judicious and sequential diagnostic approach can ascertain the etiology in the majority of children with intellectual disability.
  • Genetic testing plays a pivotal role in identifying the cause of intellectual disability.
  • Early and accurate diagnosis facilitates appropriate intervention and family support.
Abstract

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