Familial aggregation of congenital hydrocephalus in a nationwide cohort
Open Access
- 3 July 2012
- journal article
- research article
- Published by Oxford University Press (OUP) in Brain
- Vol. 135 (8), 2409-2415
- https://doi.org/10.1093/brain/aws158
Abstract
The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were observed for same-sex twins, first- and second-degree relatives as follows: 34.8 (95% confidence interval: 16.4–74.0), 6.2 (95% confidence interval 4.3–8.9) and 2.2 (95% confidence interval 1.6–3.1), respectively. Recurrence risk ratio for third-degree relatives was 1.5 (95% confidence interval 0.8–2.7). A maternal component was supported by the facts that recurrence risk ratios for opposite-sex twins (37.3, 95% confidence interval 11.9–116.7) were significantly higher than other first-degree relatives and that recurrence risk ratios for maternal half-siblings (8.4, 95% confidence interval 3.7–18.7) were significantly higher than for paternal half-siblings (3.0, 95% confidence interval 0.8–12.2). This population-based study found strong evidence of familial aggregation of primary congenital hydrocephalus, which supports the existence of a genetic component to the aetiology. In addition, the pattern of association suggests that a strong maternal component contributes to the familial aggregation.Keywords
This publication has 23 references indexed in Scilit:
- Very long-term follow-up of cognitive function in adults treated in infancy for hydrocephalusChild's Nervous System, 2010
- Congenital hydrocephalus – prevalence, prenatal diagnosis and outcome of pregnancy in four European regionsEuropean Journal of Paediatric Neurology, 2010
- Familial Recurrence of Midline Birth Defects--A Nationwide Danish Cohort StudyAmerican Journal of Epidemiology, 2009
- Etiology, Prenatal Diagnostics and Outcome of Ventriculomegaly in 230 CasesFetal Diagnosis and Therapy, 2008
- Intracranial Hemorrhage in Asymptomatic Neonates: Prevalence on MR Images and Relationship to Obstetric and Neonatal Risk FactorsRadiology, 2007
- Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.European Journal of Pediatrics, 1999
- X-Linked HydrocephalusCanadian Journal of Neurological Sciences, 1986
- X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.Journal of Medical Genetics, 1986
- Recurrence risks for congenital hydrocephalusClinical Genetics, 1979
- Sex‐linked HydrocephalusDevelopmental Medicine and Child Neurology, 1975