Intellectual Disability in Indian Children: Experience with a Stratified Approach for Etiological Diagnosis.

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. Method: 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%. Conclusion: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.

Demographic and clinical features of orphans and nonorphans at a pediatric HIV centre in north India.

Objective. To determine the prevalence of orphanhood among HIV positive children and to compare their social and demographic and clinical characteristics with that of HIV-positive non-orphans. Methods. From February 2008 through March 2009, data was collected from 148 children registered at the antiretroviral (ART) clinic of a tertiary care hospital in Delhi, on their demographic profile, HIV status of parents, orphan status and cause of parental death, mode of transmission of the infection, current caregiver, school enrolment and clinical and immunologic parameters of HIV infection at presentation. Results. The prevalence of orphanhood was 49.3%. Majority of the orphans were paternal orphans. The primary caregiver was either the surviving parent or extended family members. The orphans were older at presentation and had shorter mean duration of follow-up. They lagged behind the non-orphans in immunisation, nutritional status, school enrolment and attendance and socioeconomic status. They presented more frequently with severe immunosuppression and had a higher prevalence of opportunistic infections. There was no significant difference between the orphans and the non-orphans in the WHO clinical stage of presentation and adherence to ART. Conclusions. The prevalence of orphanhood among the HIV-positive children is high. Although extended family is a cornerstone for care of HIV-positive orphans, these families are overwhelmed by the added responsibility of these children. Larger community-based studies are needed to determine the true magnitude of orphanhood and to evolve methods to socially and financially support the families taking care of these children.

Prevalence of celiac disease in north indian children.

Celiac disease (CD) is being increasingly reported from the wheat-eating population of north India. However, the exact prevalence of CD in children is not known as population screening studies are scarce. Our study aimed to determine the prevalence of CD in 400 children, 6 months to 12 years of age attending pediatrics department of a tertiary care hospital in north India. The study population was screened for anti-tissue transglutaminase (tTG) antibodies. Endoscopic duodenal biopsy was done in the anti–tTG positive subjects. Four patients were diagnosed with CD as per the modified ESPGHAN criteria. The prevalence of CD thus was 1%, which was in concordance with screening studies using serological markers conducted in the West.