Silky Jain1, Veena Chowdhury, Monica Juneja, Madhulika Kabra, Sanjeev Pandey, Ankur Singh, Malobika Bhattacharya, Seema Kapoor. 1. Departments 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.
Abstract
OBJECTIVE: To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach. DESIGN: Cross-sectional study. SETTING: Tertiary care centre in Northern India. PARTICIPANTS: Consecutive children aged 3 months to 12 years, presenting with intellectual disability, confirmed by Developmental Assessment Scale for Indian Infants, Binet Kulshreshtha Test and Vineland Social Maturity Scale. METHODS: All children were assessed on an internally validated structured proforma. A targeted approach included thyroid function tests, Brainstem evoked response audiometry, electroencephalogram, neuroimaging and metabolic screen done as a pre-decided schema. Genetic tests included karyotyping, molecular studies for Fragile X, Multiplex Ligation Dependent Probe Amplification and Array Comparative Genomic Hybridisation. RESULTS: Data of 101 children (median age 22 months) was analyzed. The etiological yield was 82.1% with genetic causes being the most common (61.4%) followed by perinatal acquired (20.4%), CNS malformations (12%), external prenatal (3.6%), and postnatal acquired (2.4%). Mild delay was seen in 11.7%, moderate in 21.7%, severe in 30.6% and profound in 35.6% CONCLUSIONS: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.
OBJECTIVE: To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach. DESIGN: Cross-sectional study. SETTING: Tertiary care centre in Northern India. PARTICIPANTS: Consecutive children aged 3 months to 12 years, presenting with intellectual disability, confirmed by Developmental Assessment Scale for Indian Infants, Binet Kulshreshtha Test and Vineland Social Maturity Scale. METHODS: All children were assessed on an internally validated structured proforma. A targeted approach included thyroid function tests, Brainstem evoked response audiometry, electroencephalogram, neuroimaging and metabolic screen done as a pre-decided schema. Genetic tests included karyotyping, molecular studies for Fragile X, Multiplex Ligation Dependent Probe Amplification and Array Comparative Genomic Hybridisation. RESULTS: Data of 101 children (median age 22 months) was analyzed. The etiological yield was 82.1% with genetic causes being the most common (61.4%) followed by perinatal acquired (20.4%), CNS malformations (12%), external prenatal (3.6%), and postnatal acquired (2.4%). Mild delay was seen in 11.7%, moderate in 21.7%, severe in 30.6% and profound in 35.6% CONCLUSIONS: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.