Etiology of Autism Spectrum Disorders and Autistic Traits Over Time

Abstract

Importance: The frequency with which autism spectrum disorders (ASDs) are diagnosed has shown a marked increase in recent years. One suggestion is that this is partly because of secular changes in the environment, yet to our knowledge this hypothesis lacks evidence.

Objective: To assess whether the relative importance of genetic and environmental associations with ASD and autistic traits has changed over a 16-year and 26-year period.

Design, setting, and participants: A twin design was used to assess whether the heritability of ASD and autistic traits has changed over time. Data from 2 nationwide Swedish twin cohorts was used: the Swedish Twin Registry (STR; participants born between January 1982 and December 2008) and the Child and Adolescent Twin Study in Sweden (CATSS; participants born between January 1992 and December 2008). Autism spectrum disorder diagnoses were identified for twins in the STR, with follow-up to 2013. Questionnaires assigned screening diagnoses of ASD to CATSS participants and assessed autistic traits. Analyses were performed from September 1, 2018, to March 31, 2019.

Exposures: Each sample was divided into several birth cohorts covering 1982 to 1991 (for the STR only), 1992-1995, 1996-1999, 2000-2003, and 2004-2008.

Outcomes: We assessed whether the genetric and environment variance underlying autistic traits changed across birth cohorts and examined whether the relative contribution of genetics and environment to liability for autism changed across birth cohorts.

Results: Data were available for 22 678 twin pairs (5922 female same-sex pairs [26.1%], 5563 male same-sex pairs [24.5%], and 11193 opposite-sex pairs [49.4%]) in the STR and 15 280 pairs (4880 female same-sex pairs [31.9%], 5092 male same-sex pairs [33.3%], and 5308 opposite-sex pairs [34.7%]) in CATSS. The heritability of ASD diagnoses in the STR ranged from 0.88 (95% CI, 0.74-0.96) to 0.97 (95% CI, 0.89-0.99). The heritability of screening diagnoses in CATSS varied from 0.75 (95% CI, 0.58-0.87) to 0.93 (95% CI, 0.84-0.98). Autistic traits showed a modest variance increase over time that was associated with increases in genetic and environmental variance, with the total variance increasing from 0.95 (95% CI, 0.92-0.98) to 1.17 (95% CI, 1.13-1.21) over time.

Conclusions and relevance: Weak evidence was found for changes in the genetic and environmental factors underlying ASD and autistic traits over time. Genetic factors played a consistently larger role than environmental factors. Environmental factors are thus unlikely to explain the increase in the prevalence of ASD.

Figure 1.. Twin Correlations by Birth Cohort

A, Clinical autism spectrum disorder (ASD): recorded diagnosis of ASD in the National Patient Register. B, Broad ASD: screening diagnosis of ASD defined by a score of 4.5 or more on the Autism-Tics, Attention-Deficit/Hyperactivity Disorder, and Other Comorbidities Inventory.

Figure 2.. Twin Model Estimates by Birth Cohort

A, Clinical autism spectrum disorder (ASD): recorded diagnosis of ASD in the National Patient Register. B, Broad ASD: screening diagnosis of ASD defined by a score of 4.5 or more on the Autism-Tics, Attention-Deficit/Hyperactivity Disorder, and Other Comorbidities Inventory. The prevalence of each ASD diagnosis is given in place of thresholds here for ease of interpretation. The analyses of autistic traits show the variance components as the standardized total amounts of variance as opposed to proportions.