Screening of rural children in West Bengal for Fragile-X syndrome.
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Date
2009-12
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Abstract
Background & objectives: Screening for Fragile X syndrome (FRAXA), the most common genetic cause
for mental retardation (MR), has mostly been carried out among MR patients. The present study
was conducted to find out prevalence of FRAXA amongst children residing in the rural areas of West
Bengal.
Methods: Demographic details including age, sex, nutritional status as well as birth, medical, and
developmental histories, were collected amongst rural children (n=38,803) of West Bengal, India, over
three years (2004-2007). Based on the records of scholastic backwardness, 179 children were short-listed
and examined by a team of experts comprising of child psychiatrist, clinical psychologist, paediatrician
and special educator. Blood samples were collected and molecular and cytogenetic studies were performed
for identification of CGG repeats and determination of FMR1 gene promoter methylation.
Results: Of the selected 179 children, six were diagnosed as Down syndrome, one as cerebral palsy and
140 as non-syndromic MR. These 140 children with MR were grouped as mild (56), moderate (60), and
severely (4) retarded based on IQ; children <5 yr were grouped as developmental delay (20). FRAXA was
not detected in any of these children (frequency being 0% with 0-.02% confidence interval). Prevalence of
MR was found to be low (about 4/1000 children). Down syndrome also had a lower frequency (0.15/1000
children).
Interpretation & conclusion: The data obtained in the present study indicated that familial disorders like FRAXA were less frequent in the studied population.
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Keywords
Environment, fragile-X syndrome, genetic factors, malnutrition, mental retardation
Citation
Dutta Samikshan, Das Manali, Bhowmik Aneek Das, Sinha Swagata, Chattopadhyay Anindita, Mukhopadhyay Kanchan. Screening of rural children in West Bengal for Fragile-X syndrome. Indian Journal of Medical Research. 2009 Dec; 130(6): 714-719.