Neural-Tube Defects

Botto, Lorenzo D.; Moore, Cynthia A.; Khoury, Muin J.; Erickson, J. David

doi:10.1056/nejm199911113412006

Cited by 821 publications

(584 citation statements)

References 74 publications

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“…15 It consists of a fault in the spinal column in which one or more vertebrae fail to fuse properly and consequently child's functions depend on the level of the lesion and on the nerve involved. The most common form of open neural tube defect is myelomeningocoele (MMC) developing during the fourth week of gestation characterised by protrusion of meninges through the bony defect.…”

Section: Resultsmentioning

confidence: 99%

“…We used the total score (sum of all the scales). 15 Finally, to evaluate walking ability, we used an adapted form (8-point scale) of the physical therapy portion of the Patient Evaluation Conference System (Deambulation Index). 16 For disability assessment, the following main measurements were considered: FIM, BI and Deambulation Index.…”

Section: Disability Assessmentmentioning

confidence: 99%

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Assessment of health status in children with spina bifida

et al. 2005

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Study design: Prospective multidimensional study by means of: (1) clinical assessment, (2) parental-administered questionnaire for general health (CHQ-PF50), and (3) standardised disability measurements. Objectives: To assess the health-related quality of life (QoL) and disability in children with spina bifida (SB) and to correlate them with the clinical picture and our previous study on adolescents with SB. Setting: SB Centre at a University Hospital in Italy. Methods: A total of 29 consecutive children with SB (mean age 11.4, range 4-14 years) were evaluated through Child Health Questionnaire Parental Form (CHQ-PF50), the FIM instrument, and the Barthel index. Results: Disability was inversely related only (r ¼ 0.49; P ¼ 0.007) to the physical aspect of the QoL of children. Similarly, the disability was inversely related (r ¼ 0.37; P ¼ 0.005) to the emotional aspect of QoL of patient's parents. Unexpectedly, for the mental aspects of QoL of patients, major disability was not associated with higher psychological distress and severe role disability due to emotional problems. At clinical examination, findings especially for continence and number of catheterisations were usually related to deterioration of physical aspects of QoL (r ¼ À2.28; P ¼ 0.02) in children. Conclusion: The multiperspective assessment showed that there is a linear inverse correlation between disability and QoL in children with SB only for physical aspects. Conversely, there is linear inverse correlation between disability and QoL in patient's parents regarding only emotional aspects. Moreover, this study provided useful information for clinical practice underlining that continence problems are those that most affect QoL in children with SB and their parents.Spinal Cord (2005) 43, 230-235.

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Section: Resultsmentioning

confidence: 99%

Section: Disability Assessmentmentioning

confidence: 99%

Assessment of health status in children with spina bifida

et al. 2005

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“…Failure in closure of the anterior and posterior neural tube results in anencephaly/exencephaly and spina bifida, respectively. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in the offspring and is recommended for women at the reproductive age in many countries (Botto et al, 1999;Wald et al, 2001). Nevertheless, the mechanisms of how folate prevents NTD are yet to be elucidated.…”

Section: Introductionmentioning

confidence: 99%

Spatial and temporal expression of folate‐binding protein 1 (Fbp1) is closely associated with anterior neural tube closure in mice

Saitsu

Ishibashi

Nakano

et al. 2002

Developmental Dynamics

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Periconceptional folate supplementation is widely believed to have significant preventive effects on the production of neural tube defects. Folate-binding protein 1 (FBP1) is one of the membrane proteins that mediate cellular uptake of folate. Although recent studies suggest that Fbp1 is essential for neural tube closure, the pattern of Fbp1 expression in embryonic tissues has not been examined in detail. To elucidate how Fbp1 contributes to neural tube closure, we examined the spatial and temporal expression patterns of Fbp1 in the developing neural folds and tube of mouse embryos by in situ hybridization. Fbp1 showed a distinct expression pattern in the neural folds, which preceded initiation of neural tube closure at the cervical region and the prosencephalic/mesencephalic boundary.

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“…NTDs that are restricted to the cranial region of the neural tube are referred to as anencephaly (1). This condition is characterized by the absence of the cranial vault and absent or markedly diminished cerebral hemispheres.…”

mentioning

confidence: 99%

Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects

Ren

Qiu

Jin

et al. 2011

Proc. Natl. Acad. Sci. U.S.A.

260

169

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Persistent organic pollutants (POPs) have been associated with a wide range of adverse health effects. Our case-control study was performed to explore the association between placental levels of selected POPs and risks for neural tube defects (NTDs) in a Chinese population with a high prevalence of NTDs. Cases included 80 fetuses or newborns with NTDs, whereas the controls were 50 healthy, nonmalformed newborn infants. Placental concentrations of polycyclic aromatic hydrocarbons (PAHs), organochlorine pesticides, polychlorinated biphenyls, and polybrominated diphenyl ethers were analyzed by gas chromatography-mass spectrometry. The medians of PAHs, o,p′-isomers of dichlorodiphenyltrichloroethane (DDT) and metabolites, α-and γ-hexachlorocyclohexane (HCH), and α-endosulfan were significantly higher in case placentas than in controls. PAH concentrations above the median were associated with a 4.52-fold [95% confidence interval (CI), 2.10-9.74) increased risk for any NTDs, and 5.84-(95% CI, 2.28-14.96) and 3.71-fold (95% CI, 1.57-8.79) increased risks for anencephaly and spina bifida, respectively. A dose-response relationship was observed between PAH levels and the risk of NTDs, with odds ratios for the second, third, and fourth quartiles, compared with the first, of 1.77-(95% CI, 0.66-4.76), 3.83-(95% CI, 1.37-10.75), and 11.67-fold (95% CI, 3.28-41.49), respectively. A dose-response relationship was observed for anencephaly and spina bifida subtypes. Similar results were observed for o,p′-DDT and metabolites, α-HCH, γ-HCH, and α-endosulfan, whereas no dose-response relationship was observed for the last two pollutants. Elevated placental concentrations of PAHs, o,p′-DDT and metabolites, and α-HCH were associated with increased risks of NTDs in this population.congenital abnormalities | indoor air pollution

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Neural-Tube Defects

Cited by 821 publications

References 74 publications

Assessment of health status in children with spina bifida

Assessment of health status in children with spina bifida

Spatial and temporal expression of folate‐binding protein 1 (Fbp1) is closely associated with anterior neural tube closure in mice

Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects

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