title: Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
abstract: 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.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, MA, USA. kira.dies@childrens.harvard.edu
authors.forename: Kira A
authors.initials: KA
authors.lastname: Dies
authors.forename: Adria
authors.initials: A
authors.lastname: Bodell
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
authors.forename: Chao-Yu
authors.initials: CY
authors.lastname: Guo
authors.forename: Brenda
authors.initials: B
authors.lastname: Barry
authors.forename: Bernard S
authors.initials: BS
authors.lastname: Chang
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000293:Adolescent; D000328:Adult; D000428:Alcohol Drinking / Q000009:adverse effects*; D003072:Cognition Disorders / Q000209:etiology; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006306:Health Surveys; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D016015:Logistic Models; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000209:etiology* / Q000473:pathology / Q000523:psychology; D008423:Maternal Age; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D009154:Mutation / Q000235:genetics; D011295:Prenatal Care; D012189:Retrospective Studies; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins