Prevalence of Down Syndrome in Western India: A Cytogenetic Study

Pankaj, Gadhia; Kathiriya, Avani; Vaniawala, Salil

doi:10.9734/bjmmr/2015/13648

Cited by 8 publications

(4 citation statements)

References 6 publications

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“…However study conducted by Salih et al in the Iraqi population has reported higher frequency of translocations as being 5.8% 16 . Similar results have been reported by Pankaj et al in the Indian children 18 . Chandra et al (India) in a study conducted at Department of Genetics, University of Madras has observed mosaicism in 10.7% of his population which is quite higher than other studies 19 .…”

Section: Discussionsupporting

confidence: 92%

Frequency of Clinical Features and Cytogenetic Defects in Down Syndrome Diagnosed at Afip

Irum

Robert

Mahmood

et al. 2021

PAFMJ

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Objective: To determine the frequency of clinical features and cytogenetic abnormalities in patients of down syndrome and correlation of cytogenetic abnormalities with clinical features. Study Design: Cross sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Feb 2017 to Feb 2018. Methodology: Total 163 patients with clinical suspicion of Down syndrome were selected by non-probability convenient sampling and diagnosis was confirmed by conventional cytogenetic analysis using Giemsa trypsin banding technique. Clinical features were assessed and frequency of different cytogenetic abnormalities were noted. Results: Out of total 163 patients, 96 (59%) were male and 67 (41%) were female. Median age of the patients was 11 months. Trisomy 21 was detected in 158 (96.9%), Robertsonian translocation in 4 (2.4%) and mosaicism in 01 (0.6%) patient. The predominant clinical features observed were slaunted with eyes, epicanthic folds, depressed nasal bridge and protruding tongue. Conclusion: Trisomy 21 is the most common cytogenetic abnormality observed in patients of down syndrome.

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Section: Discussionsupporting

confidence: 92%

Frequency of Clinical Features and Cytogenetic Defects in Down Syndrome Diagnosed at Afip

Irum

Robert

Mahmood

et al. 2021

PAFMJ

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“…In our study we have reported an incidence of 26 children with down's syndrome. Previously Gadhia Pankaj et al, reported that the advanced maternal age is classic risk factor attributed to the incidences of down's syndrome in Western India [16]. In the present study, two children (0.03%) were found with congenital cataract, in which one is male from 6 weeks to 3 years and one is female from 6-18 years age group.…”

Section: Discussionsupporting

confidence: 52%

Assessment of Institutional and Management Capacities Against Health Conditions in Indian Early Intervention Centre

Pagolu¹,

Tamanam

2020

Preprint

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Background: Rashtriya Bal Swasthya Karyakram (RBSK) is aimed at screening children for 4 Ds - Defects at birth, Diseases during childhood, Deficiencies and Developmental delays including disabilities and early intervention of these conditions. The aim of this study is to discover the pattern of various health conditions screened under the 4D’s approach and the institutional capacities like infrastructural, manpower and their training capacities. Methods: This is an observational study done in District Early Intervention Centre (DEIC), Visakhapatnam, Andhra Pradesh, India for a period of one year. Children referred to DEIC were screened by the pediatrician as per Rashtriya Bal Swasthya Karyakram (RBSK) norms. The information of the children who attended the DEIC such as age, sex, source of referral, diagnosis, treatment given and outcome were tabulated and analyzed. An analysis of the manpower available existing at the center during the study period was also done. Results: During the study period, a total number of 6572 children were found to have one of the listed 30 conditions under 4D’s approach of screening. Developmental delays and disabilities were seen in 4801 (73.05%) children, followed by children with childhood diseases which were observed in 1277 (19.43%), children with defects at birth were 255 (3.88%) and children with deficiencies were 239 (3.63%). Among the defects at birth, congenital deafness was the most commonly screened condition found in 84 (1.27%) children. About 53 (0.80%) neonates were found to have club foot of varying grades. On analysis of deficiencies, severe acute malnutrition was observed in 236 (3.59%) children. There was 1(0.01%) child each with Vitamin A deficiency (Bitot’s Spot), Vitamin D deficiency and Goiter (Due to Iodine Deficiency). On analysis diseases during childhood, dental caries were seen in 1219 (18.54%) children and skin conditions in 26 (0.39%) children. About 44 (0.6%) children were found to have rheumatic heart disease. On analysis of developmental delays and disabilities, language delay was the commonest screened condition seen in 941(14.31%) children. Hearing impairment was seen in 917 (13.95%) children, learning disorder in 704 (10.71%) children and neuro motor impairment in 584 (8.88%) children, vision impairment was seen in 505 (7.68%) children, motor delay was seen in 462 (7.02%) and cognitive delay was seen in 205 (3.11%). There were 68 (1.03%) cases of behavioral disorders (Autism) and were treated with multi modal therapy including sensory integration. Regarding manpower at the center, all the posts were occupied throughout the study period except medical officer, psychologist, dental hygienist and DEIC manager.Conclusion: We observed that many curable diseases are undiagnosed among the children and hence they were deprived of treatment for the same. Promotion of Early Intervention Services is most beneficial for improvement in health status of children and therefore RBSK purview should be extended to reach every individual child.

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“…In our examination we have announced an occurrence of 26 kids with down's condition. Already Gadhia pankaj et al, detailed that the serious maternal age is exemplary danger factor credited to the rates of down's condition in Western India [14]. In the current examination, two kids (0.03%) were found with congenital cataract, in which one is male from about a month and a half to 3 years and one is female from 6-18 years age gathering.…”

Section: Discussionmentioning

confidence: 48%

Assessment and management capacities for the child health screening and intervention initiative in Visakhapatnam, India

Pagolu

Rao

2020

Preprint

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Background: Early detection and early intervention of diseases can significantly improve child quality of life. The most often a diagnosis of Developmental Delay (DDs) made by a doctor based on strict guidelines. The aim of present survey is to decide the commonness of the conditions screened and institutional facilities through the RBSK activity among the children going to the DEIC focus at Visakhapatnam, India. Methods: This observational study was conducted in Visakhapatnam, District Early Intervention Centre (DEIC) one of the north coastal district of India for one year period and 6572 children aged 2 months-18 years were taken in the study. Norms were developed by the Ministry of Health and Family Welfare, India to DEIC, according to the norms the pediatrician will examine the children who came to the center. Existing manpower analysis in the center was also done. Present study was done the multivariate logistic regression analysis were done to identify the predictors for DDs.Results: The examination of the 30 conditions screened under 4D's methodology, defects during childbirth were there in 255(3.88%), followed by deficiencies in 239 (3.63%) children, diseases during childhood were seen in 1277 (19.43%) children and disabilities and DDs were seen in 4801 (73.05%) children. From the diseases, dental caries were found in most elevated number of youngsters with 1219 (18.54%) cases. The mostly occurring DDs are language delay 941(14.31%) children had imperfections of these were observed. On analysis of deficiencies, most extreme number of 236 (3.59%) children was found with serious intense unhealthiness of severe acute malnutrition. Among the defects at birth, congenital deafness was the most frequently screened stipulation found in 84 (1.27%) children. The post of medical officer, Psychologist and DEIC manager stayed empty all through the examination time frame. Conclusion: In the present study we have undiagnosed that many curable diseases in children are not identified at all in a timely manner. Early intervention services on children's health are very useful and in future these services are extent for every individual child.

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Prevalence of Down Syndrome in Western India: A Cytogenetic Study

Cited by 8 publications

References 6 publications

Frequency of Clinical Features and Cytogenetic Defects in Down Syndrome Diagnosed at Afip

Frequency of Clinical Features and Cytogenetic Defects in Down Syndrome Diagnosed at Afip

Assessment of Institutional and Management Capacities Against Health Conditions in Indian Early Intervention Centre

Assessment and management capacities for the child health screening and intervention initiative in Visakhapatnam, India

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