Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care
| Autor: | Dies, Kira A, Bodell, Adria, Hisama, Fuki M, Guo, Chao-Yu, Barry, Brenda, Chang, Bernard S, Barkovich, A James, Walsh, Christopher A |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Alcohol Drinking Adolescent Clinical Sciences Reproductive health and childbirth Young Adult Risk Factors Clinical Research Genetics Humans 2.1 Biological and endogenous factors magnetic resonance imaging Aetiology Retrospective Studies Homeodomain Proteins Pediatric Epilepsy Movement Disorders Neurology & Neurosurgery Neurosciences Prenatal Care Middle Aged Health Surveys Malformations of Cortical Development Logistic Models Mutation Female Cognitive Sciences Cognition Disorders schizencephaly cortical dysplasia Transcription Factors Maternal Age |
| Zdroj: | Journal of child neurology, vol 28, iss 2 |
| Popis: | Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter. The clinical presentation is variable and can include motor or cognitive impairment and epilepsy. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, or maternal trauma. Reported genetic causes include chromosomal aneuploidy, EMX2 mutations, and possible autosomal recessive familial cases based on recurrence in siblings. In an effort to identify risk factors for schizencephaly, we conducted a survey of 48 parents or primary caretakers of patients with schizencephaly born between 1983 and 2004. We discovered that young maternal age, lack of prenatal care, and alcohol use were all significantly associated with risk of schizencephaly. Our results suggest that there are important nongenetic, intrauterine events that predispose to schizencephaly. |
| Databáze: | OpenAIRE |
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