Dataset Information

Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

ABSTRACT:

Background

Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this.

Materials and methods

In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India.

Results

There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses.

Conclusion

This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis.

SUBMITTER: Barik M

PROVIDER: S-EPMC3783739 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature

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Publications

Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

Barik Mayadhar M Bajpai Minu M Das Rashmi Ranjan RR Das Rashmi Ranjan RR Panda Shasanka Shekhar SS

Journal of pediatric neurosciences 20130501 2

<h4>Background</h4>Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this.<h4>Materials and methods</h4>In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care i ...[more]

PMID: 24082921

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Project description:BackgroundAttention-Deficit Hyperactivity Disorder (ADHD) is a complex disease that negatively impacts the social and academic/occupational activities of children and is more common in boys than in girls.MethodsThis case-control study aimed to assess the association between some environmental risk factors and ADHD among children in Alexandria, Egypt. It was carried out at the outpatient clinics of El Shatby Pediatric University Hospital in Alexandria, Egypt, with 252 children (126 cases and 126 controls). Hair samples were collected for analysis of lead and manganese levels using Atomic Absorption Spectrophotometer. A pre-designed interview questionnaire was used to determine the important environmental risk factors that may be related to ADHD.ResultsChildren from parents with low levels of education, living in crowded houses, and occupational exposure to chemical agents were found to be risk factors for ADHD. The mean ± SD hair lead level in ADHD children was 2.58 ± 1.95, while in controls was 1.87 ± 0.92, with a statistically significant difference (p < 0.001). The mean ± SD hair manganese level in ADHD children was 2.10 ± 1.54, while in controls was 1.11 ± 0.69, with a statistically significant difference (p < 0.001). The logistic regression model revealed that six factors had a significant association with ADHD: using of newspapers to wrap food 3 or more times a week (adjusted odds ratio (AOR) = 105.11, 95% CI: 11.18-988.26), daily TV watching by child for more than 5 h (AOR = 63.96, 95% CI: 2.56-1601.32), child's eating commercially packed noodles 3 times or more per week (AOR = 57.73, 95% CI: 3.77-593.93), using unpackaged flour in cooking (AOR = 44.47, 95% CI: 1.83-629.80), eating sweets daily by child (AOR = 6.82, 95% CI: 1.23-37.94), and lastly elevated hair Manganese level (AOR = 3.57, 95% CI: 1.24-10.29).ConclusionsADHD is a multi-factorial disorder, where many environmental risk factors contribute to its development. Future efforts to determine the best preventive strategy in Egypt must be based on a better knowledge of the role of environmental risk factors in the etiology of the disorder. Eliminating non-essential uses of lead and providing public education regarding the importance of safe disposal of lead-acid batteries and computers are necessary.

Project description:Background Family functionality is that which promotes the integral development of its members, as well as a favorable state of health in them; fulfilling the basic parameters of adaptation, participation, growth, affection, and resources. Family dysfunction is understood as the failure to comply with any of these functions due to an alteration in one or more of the subsystems. Objective There is little research on variables related to family functioning with a case-control design, for this reason, we present the family functioning of school students, identify variables found to be related to family functioning, and describe a model of variables related to family dysfunction. Materials and methods Analytical study of cases and controls. The sample was made up of 290 students. The APGAR scale was used to identify family dysfunction. The statistical processing was done in Epi-Info 7.0 and STATA 14. The variables that were considered were Municipality, area, age, sex, school grade, mother's age, disability, and displacement. Results The factors associated with adequate family function were: displacement, (OR = 0.17, CI: 0.03–0.99). You are followed, your parents pay attention and listen to you (OR = 0.25, CI: 0.08–0.74), you talk to your mother every day (OR = 0.35 CI: 0.16–0.74), you spend free time with your parents (OR = 0.41, CI: 0.20–0.86), play sports at least once a week (OR = 0.42, CI = 0.20–0.91), and finally, attend religious services (OR = 0.51, CI: 0.29–0.90). While the factors associated with family dysfunction were: your parents punish you by forbidding you things (OR = 2.98, CI: 1.32–6.71) and you have friends close to where you live followed by an (OR = 2.60, CI: 1.13–5.96). Conclusions Dysfunctionality was evident in the four municipalities of the Valley. Among the main factors associated with dysfunctionality was punishment by parents for forbidding things and having friends near the schoolchild's home.

Dataset Information

Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

Background

Materials and methods

Results

Conclusion

Publications

Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

Similar Datasets

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