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We examined whether folic acid (FA) supplementation prevented congenital hydrocephalus (CH) in more than 200 000 births in China.
Design:
A large population-based cohort study.
Setting:
All births at 20 complete gestational weeks, including live births, stillbirths and pregnancy terminations, and all structural birth defects regardless of gestational week were recorded. The prevalence of births with CH was classified by maternal characteristics and FA supplementation. CH was diagnosed in accordance with code 742.3 of the International Classification of Diseases, Ninth Revision, Clinical Modification, while non-neural tube defect (NTD) CH refers to CH without anencephaly (740), spina bifida (741) or encephalocele (742·0).
Participants:
A total of 247 831 pregnant women who delivered with known outcomes were included.
Results:
A total of 206 cases of CH (0·83 per 1000 births) and 170 cases of non-NTD CH (0·69 per 1000 births) were recorded in the study. The prevalence of CH and non-NTD CH was higher in women in the no supplementation group than those in the FA supplementation group (0·92 and 0·72 v. 0·75 and 0·65 per 1000 births, respectively). FA supplementation during the periconceptional period significantly prevented CH (OR = 0·29, 95 % CI 0·12, 0·69) and non-NTD CH (OR = 0·34, 95 % CI 0·12, 0·97) in northern China, especially in a high-compliance group (≥ 80 %).
Conclusions:
Periconceptional FA supplementation did not significantly prevent CH overall in the current study. However, in the north of China with common maternal folate insufficiency, there was some evidence.
Lifespan outcomes of simultaneous versus sequential myelomeningocele repair and shunt placement or effects of repeated shunt revisions on specific domains of IQ or fine motor dexterity are largely unknown. The current study addressed these gaps in a large cohort of children and adults with spina bifida myelomeningocele (SBM).
Methods:
Participants between 7 and 44 years of age with SBM and shunted hydrocephalus were recruited from international clinics at two time points. Each participant completed a standardized neuropsychological evaluation that included estimates of IQ and fine motor dexterity. Simultaneous versus sequential surgical repair and number of shunt revisions were examined in relation to long-term IQ and fine motor scores.
Results:
Simultaneous myelomeningocele repair and shunting were associated with more frequent shunt revisions, as well as to lower Full Scale and verbal IQ scores, controlling for number of shunt revisions. More shunt revisions across study time points were associated with higher nonverbal IQ (NVIQ) scores. No effects were observed on fine motor dexterity.
Conclusions:
Findings indicate generally greater influence of surgery type over shunt revision history on outcomes in well-managed hydrocephalus. Findings supported apparent, domain-specific benefits of sequential compared to simultaneous surgery across the lifespan in SBM. Higher NVIQ scores with greater number of additional shunt revisions across surgery type supported positive outcomes with effective surgical management for hydrocephalus.
This chapter presents the existing data concerning the epidemiology of selected forms of hydrocephalus, concentrating on congenital and infantile hydrocephalus and idiopathic and secondary normal pressure hydrocephalus (NPH). The epidemiology of congenital and infantile hydrocephalus has been explored in several studies. Casmiro et al. based the diagnosis on absence of known causes of secondary NPH, impaired gait, and CT scans showing findings indicative of NPH. The chapter explores the epidemiology of idiopathic normal pressure hydrocephalus (iNPH) in a Norwegian county of 220000 inhabitants, by actively informing the public and professional health workers about the condition, asking for referral of suspected individuals on a broad clinical basis. The lack of universally accepted guidelines for the diagnosis of iNPH, and the lack of powerful tests to predict shunt success, probably also contribute to the relative low rate of diagnosis, and consequently, of surgery.
Genetic studies in animal models have started to open new ways for understanding the underlying molecular pathophysiology of hydrocephalus. Human hydrocephalus can be classified as syndromic versus non-syndromic, and congenital versus acquired. Comparative twin studies have been performed to analyze the genetic influences in congenital structural defects including hydrocephalus. Familial hydrocephalus has long been suggested as a heritable disease, with heterogeneous causes, which may result from distinct monogenic or multifactorial disorders. Congenital hydrocephalus (CHC) is usually the consequence of deficient brain development and perturbed cellular function, implicating the important roles that CHC genes play during brain development. The majority of identified hydrocephalus loci and genes are from genetic analysis in hydrocephalic animal models. The pathophysiology of hydrocephalus in the ventricular system has been extensively studied through either down- or up-regulation of certain targeted gene expression, followed by comparative morphological and molecular studies.
This chapter first focuses on the ethics of animal models and then discusses the formal requirements general to any experimental model and the specific requirements for models of hydrocephalus. It also discusses the recent and current research areas in experimental hydrocephalus. Ethical standards for experimental studies involving animals are legally set by laws and regulations. Animal models resemble human disease by conditions which are genetically determined, naturally acquired, or induced by the investigator. Shunted animal models provide a unique potential for insight into questions concerning the destructive effects of hydrocephalus on the brain and its development, as it is rarely possible to obtain brain tissue from humans with hydrocephalus. Most of the hydrocephalus animal models are neonatal or juvenile animals and the majority of research is thus directed at congenital or pediatric hydrocephalus.
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