Recurrence of Autism Spectrum Disorders in Full- and Half-Siblings and Trends Over Time A Population-Based Cohort Study

Section of Biostatistics, Department of Public Health, Aarhus University, Aarhus, Denmark.
JAMA pediatrics 08/2013; 167(10). DOI: 10.1001/jamapediatrics.2013.2259
Source: PubMed


To date, this is the first population-based study to examine the recurrence risk for autism spectrum disorders (ASDs), including time trends, and the first study to consider the ASDs recurrence risk for full- and half-siblings.Objectives
To estimate the relative recurrence risk for ASDs in a Danish population, including recurrence in full- and half-siblings, and to examine time trends in ASDs relative to the recurrence risk.Design, Setting, and Participants
Population-based cohort study in Denmark. All children (about 1.5 million) born in Denmark between January 1, 1980, and December 31, 2004, were identified and followed up to December 31, 2010. We identified a maternal sibling subcohort derived from mothers with at least 2 children and a paternal sibling subcohort derived from fathers with at least 2 children.Exposures
Children having an older sibling with ASDs are compared with children not having an older sibling with ASDs.Main Outcomes and Measures
The adjusted hazard ratio for ASDs among children having an older sibling with ASDs compared with children not having an older sibling with ASDs.Results
The overall relative recurrence risk for ASDs was 6.9 (95% CI, 6.1-7.8), and it did not change significantly over time; similar risks were observed in maternal and paternal full-siblings. The relative recurrence risks were 2.4 (95% CI, 1.4-4.1) for maternal half-siblings and 1.5 (95% CI, 0.7-3.4) for paternal half-siblings.Conclusions and Relevance
Our population-based recurrence risk estimate is lower than the recently reported estimates from clinical samples. Our results demonstrate no time trend in the ASDs recurrence risk as seen in the ASDs prevalence. The difference in the recurrence risk between full- and half-siblings supports the role of genetics in ASDs, while the significant recurrence risk in maternal half-siblings may support the role of factors associated with pregnancy and the maternal intrauterine environment in ASDs.

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    • "Autism spectrum conditions (ASCs) are common pervasive neurodevelopmental conditions which typically present in early childhood and manifest with characteristic impairments in communication and social relationships, alongside unusually repetitive behaviours and restricted interests. Numerous studies have shown ASC to be highly heritable (Ronald and Hoekstra, 2011; Berg and Geschwind, 2012; Colvert et al., 2015), with genetic heritability estimated at 80% (Lichtenstein et al., 2010); one recent estimate suggests that siblings of people with autism are 7 times more likely to be diagnosed with an ASC than are members of the general population with no genetic relationship to an autistic proband (Grønborg et al., 2013). The complex polygenic interactions underlying ASC give rise to a continuous spectrum of subclinical and clinically diagnosed presentations (Baron-Cohen et al., 2001a; Hoekstra et al., 2007). "
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    ABSTRACT: Endophenotypes are heritable and quantifiable markers that may assist in the identification of the complex genetic underpinnings of psychiatric conditions. Here we examined global hypoconnectivity as an endophenotype of autism spectrum conditions (ASCs). We studied well-matched groups of adolescent males with autism, genetically-related siblings of individuals with autism, and typically-developing control participants. We parcellated the brain into 258 regions and used complex-network analysis to detect a robust hypoconnectivity endophenotype in our participant group. We observed that whole-brain functional connectivity was highest in controls, intermediate in siblings, and lowest in ASC, in task and rest conditions. We identified additional, local endophenotype effects in specific networks including the visual processing and default mode networks. Our analyses are the first to show that whole-brain functional hypoconnectivity is an endophenotype of autism in adolescence, and may thus underlie the heritable similarities seen in adolescents with ASC and their relatives. © 2015 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license.
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    • "What studies are needed to determine if exposure to AV materials contributes to the development of ASD and how much exposure is detrimental? Siblings of children with ASD have a significantly higher risk of developing ASD [131] [132]. The authors suggest that ASD sibling studies include parental documentation of infant audiovisual viewing data that could be analyzed prospectively with respect to ASD outcome. "
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    ABSTRACT: Earliest identifiable findings in autism indicate that the autistic brain develops differently from the typical brain in the first year of life, after a period of typical development. Twin studies suggest that autism has an environmental component contributing to causation. Increased availability of audiovisual (AV) materials and viewing practices of infants parallel the time frame of the rise in prevalence of autism spectrum disorder (ASD). Studies have shown an association between ASD and increased TV/cable screen exposure in infancy, suggesting AV exposure in infancy as a possible contributing cause of ASD. Infants are attracted to the saliency of AV materials, yet do not have the experience to recognize these stimuli as socially relevant. The authors present a developmental model of autism in which exposure to screen-based AV input in genetically susceptible infants stimulates specialization of non-social sensory processing in the brain. Through a process of neuroplasticity, the autistic infant develops the skills that are driven by the AV viewing. The AV developed neuronal pathways compete with preference for social processing, negatively affecting development of social brain pathways and causing global developmental delay. This model explains atypical face and speech processing, as well as preference for AV synchrony over biological motion in ASD. Neural hyper-connectivity, enlarged brain size and special abilities in visual, auditory and motion processing in ASD are also explained by the model. Positive effects of early intervention are predicted by the model. Researchers studying causation of autism have largely overlooked AV exposure in infancy as a potential contributing factor. The authors call for increased public awareness of the association between early screen viewing and ASD, and a concerted research effort to determine the extent of causal relationship. Copyright © 2015. Published by Elsevier Ltd.
    Medical Hypotheses 06/2015; 77. DOI:10.1016/j.mehy.2015.06.019 · 1.07 Impact Factor
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    • "If the scientists believed that downward trend between 1999 and 2001 was caused by some phenomenon unrelated to the phaseout of the TCVs, these scientists should have included those data and then explained the trend within the discussion of the data. If the 2001 data had been included in the final publication , the results would have been consistent with a more recent CDC study [29] where a decreasing trend of autism prevalence in Denmark after the removal of Thimerosal in 1992 was reported. Instead of large increases in autism prevalence after 1992, the recent Danish study revealed that the autism spectrum disorder prevalence in Denmark fell steadily from a high of 1.5% in 1994-95 (when children receiving Thimerosal-free formulations were too young to receive an autism diagnosis and, because of the known offset in diagnosis, most of those being diagnosed had been born 4 to 8 years earlier [from 1985 to 1990]) to a low of 1.0% in 2002–2004 (more than 10 years after the phasein of the use of Thimerosal-free vaccine formulations was started in 1992). "

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