The Autism Birth Cohort: a paradigm for gene–environment–timing research

Abstract

The reported prevalence of autism spectrum disorders (ASD) has increased 5–10× over the past 20 years. Whether ASD are truly more frequent is controversial; nonetheless, the burden is profound in human and economic terms. Although autism is among the most heritable of mental disorders, its pathogenesis remains obscure. Environmental factors are proposed; however, none is implicated. Furthermore, there are no biomarkers to screen for ASD or risk of ASD. The Autism Birth Cohort (ABC) was initiated to investigate gene × environment × timing interactions and enable early diagnosis. It employs a large, unselected birth cohort wherein cases are prospectively ascertained through population screening. Samples collected serially through pregnancy and childhood include parental blood, maternal urine, cord blood, milk teeth and rectal swabs. More than 107 000 children are continuously screened via questionnaires, referral and a national registry. Cases are compared with a control group from the same cohort in a “nested case-control” design. Early screening, diagnostic assessments and re-assessments are designed to provide a rich view of longitudinal trajectory. Genetic, proteomic, immunologic, metagenomic and microbiological tools will be used to exploit unique biological samples. The ABC is a paradigm for investigating the role of genetic and environmental factors in complex disorders.

Folic Acid Supplements in Pregnancy and Severe Language Delay in Children

“…13,14 To check whether this applied within our study sample, we used a subsample of 425 children. These children were administered in-depth assessments as part of an ongoing case-control study of autism spectrum disorders nested within the MoBa cohort, 15 in which screen-positive potential cases and control children are assessed shortly after completion of the age 3 years questionnaire. We compared scores on the Vineland communication domain 16 with ratings based on maternal report in the age 3 years questionnaire.…”

The Norwegian Mother and Child Cohort Study (MoBa) – past, present and future

“…The aim was to screen for early signs of autism spectrum disorders and to use MoBa to explore etiology, early markers and trajectories (12). Later, the MoBa biobank was supported from an RCN infrastructure program (FUGE) that supported functional genomics (13).…”

“…Examples are: autism spectrum disorders (12,15), ADHD (16), asthma (17) and language delay. Other subprojects have examined subjects for validation purposes, as was done for the food frequency questionnaire (18), or validation is done based on scrutiny of clinical records or registry data, which has been done for pre-eclampsia (19) and is presently performed for children with epilepsy and children with cerebral palsy.…”

Autism Spectrum Disorder, ADHD, Epilepsy, and Cerebral Palsy in Norwegian Children

“…So far, this has only been done by the ASD substudy, the Autism Birth Cohort study. 15 This study validates NPR diagnoses of ASD by doing in-person clinical assessments. The assessment includes the standard diagnostic instruments for diagnosing ASD: the Autism Diagnostic Interview, Revised 16 and the Autism Diagnostic Observation Schedule.…”