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Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
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Quantifying and modeling birth order effects in autism.

Tychele Turner1, Vasyl Pihur, Aravinda Chakravarti

  • 1Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

Plos One
|November 1, 2011
PubMed
Summary
This summary is machine-generated.

Birth order influences autism risk, with middle births in multiplex families and later births in simplex families showing higher susceptibility. These findings suggest non-genetic factors may play a role in autism etiology.

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Area of Science:

  • Genetics
  • Developmental Neuroscience
  • Pediatrics

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
  • However, known genetic factors explain less than 10% of ASD cases, indicating other contributing elements.
  • High heritability and low recurrence risk suggest multifactorial inheritance, but non-genetic modulators of risk are poorly understood.

Purpose of the Study:

  • To investigate the impact of birth order on autism risk, a factor not typically explained by purely genetic inheritance models.
  • To analyze birth order effects in publicly available autism family datasets from the USA.
  • To assess the statistical power of tests designed to detect such birth order effects.

Main Methods:

  • Analysis of three independent autism family collections from the USA.
  • Statistical evaluation of birth order patterns within multiplex (multiple affected individuals) and simplex (single affected individual) families.
  • Examination of gender-specific effects and comparison with parental age-dependent risk patterns.

Main Results:

  • Statistically significant birth order effects were detected, varying across the studied collections.
  • Multiplex families exhibited a V-shaped pattern, with middle-born children at higher risk.
  • Simplex families showed a linear trend, where risk increased with subsequent births, and this effect was gender-dependent.

Conclusions:

  • Observed birth order patterns in autism risk may stem from ascertainment biases or underlying biological factors.
  • Parental age-dependent risks present similar patterns, potentially explaining some of the observed increased risk.
  • Incorporating these birth order and parental age patterns into genetic searches may enhance statistical power and identify novel autism etiologies.