Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care
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Published on: August 5, 2017
Kira A Dies1, Adria Bodell, Fuki M Hisama
1Department of Neurology, Boston Children's Hospital, Boston, MA, USA. kira.dies@childrens.harvard.edu
Insights
Schizencephaly, a brain malformation, may be linked to nongenetic factors. Young maternal age, no prenatal care, and alcohol consumption during pregnancy were identified as significant risk factors.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Genetics
Background:
- Schizencephaly is a rare cortical malformation defined by gray matter-lined clefts.
- Clinical symptoms vary, including motor/cognitive deficits and epilepsy.
- Causes are diverse, encompassing genetic factors (e.g., EMX2 mutations) and environmental influences.
Purpose of the Study:
- To identify potential risk factors for schizencephaly.
- To investigate the association between maternal and environmental factors and schizencephaly occurrence.
Main Methods:
- A survey was conducted with 48 parents/caretakers of schizencephaly patients.
- Data collected retrospectively for patients born between 1983 and 2004.
- Statistical analysis to identify significant risk factors.
Main Results:
- Young maternal age was significantly associated with increased risk.
- Lack of prenatal care emerged as a notable risk factor.
- Alcohol use during pregnancy showed a significant correlation with schizencephaly.
Conclusions:
- Nongenetic, intrauterine factors play a crucial role in schizencephaly development.
- Maternal age, prenatal care access, and alcohol consumption are modifiable risk factors.
- Findings suggest a need for targeted prenatal care and awareness campaigns.
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.
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