The Autism Birth Cohort (ABC): a study of autism spectrum disorders in MoBa.
2014
Background: Autism spectrum disorders (
ASDs) are characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. In most cases, the cause of
ASDis likely to be a combination of genetic predisposition and environmental exposures occurring in fetal life or early infancy. Consequently, a prospective pregnancy cohort like MoBa represents an ideal platform for studies of
ASDsin children. Methods: The Autism Birth Cohort (ABC) Study has identified potential
ASDcases in MoBa through questionnaire- based screening, parental and professional referrals, and linkages to the Norwegian Patient Register.
ASDdiagnoses have been ascertained through in-person clinical assessments and medical record reviews. Current results : By the end of 2012, the ABC Study had identified 518
ASDcases in MoBa. The
ASDprevalence in school-age children is 0.7-0.8%, which is in line with nationwide estimates for Norway. The most important source of
ASDcase identification was registry linkages, while only a minority was detected through early screening. Published findings show that screening at 18 months misses the majority of
ASDcases. Analyses of risk factors for
ASDshave shown that maternal use of
folic acid supplementsin early pregnancy may lower the child’s risk of developing
ASDsand that paternal obesity appears to increase the child’s risk of
ASDs. Future plans:
ASDcase identification will continue through annual registry linkages and subsequent reviews of medical records. Analyses of plasma samples and RNA samples will be conducted to investigate prenatal and perinatal microbial exposures, innate immune and inflammatory responses, biomarkers of autism risk, and exposures to xenobiotics. Analyses of
deciduous teethwill also investigate the effect of medications and environmental toxins. Exome sequencing of DNA from
ASDcases and their parents is ongoing, and will elucidate the role of de novo DNA mutations in the pathogenesis of
ASDs. Future epidemiological analyses will explore the results of the 36-month screening for
ASDs, the diagnostic stability and developmental trajectories in
ASDchildren, and psychiatric and medical comorbidities in
ASDs.
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