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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
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Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

Advancing paternal age and simplex autism.

Connor Morrow Puleo1, James Schmeidler, Abraham Reichenberg

  • 1Department of Pshychology, Temple University, Philadelphia, PA 19122, USA. connor.puleo@temple.edu

Autism : the International Journal of Research and Practice
|December 20, 2011
PubMed
Summary
This summary is machine-generated.

Advancing paternal age increases the likelihood of simplex autism spectrum disorder (ASD) in female offspring. This suggests de novo events are more influential in female ASD cases, impacting risk differently by sex.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Reproductive Health

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with genetic and environmental influences.
  • De novo genetic events are increasingly recognized as contributors to ASD etiology.
  • Paternal age has been implicated as a risk factor for ASD, potentially linked to increased de novo mutations.

Purpose of the Study:

  • To investigate the relationship between advancing paternal age and the occurrence of simplex (non-familial) versus multiplex (familial) autism spectrum disorder cases.
  • To determine if this relationship is moderated by the sex of the child.
  • To explore the role of de novo events in ASD risk across different sexes and family types.

Main Methods:

  • Analysis of 677 participants (340 families) with autism spectrum disorder (ASD), categorizing cases into simplex (n=90) and multiplex (n=587).
  • Statistical modeling to assess the interaction between paternal age, child's sex, and simplex/multiplex family type, controlling for maternal age.
  • Examining trends in simplex ASD likelihood as paternal age increases for both male and female offspring.

Main Results:

  • A significant interaction was found between linear paternal age and the sex of the child concerning simplex family type, even after controlling for maternal age.
  • Female autism spectrum disorder (ASD) cases showed a significantly higher likelihood of being simplex as paternal age increased.
  • The increase in simplex ASD cases with advancing paternal age was not significant for male offspring.

Conclusions:

  • Advancing paternal age is associated with an increased risk of simplex autism spectrum disorder (ASD) specifically in female offspring.
  • Findings suggest that de novo genetic events, potentially influenced by paternal age, may play a more prominent role in the etiology of simplex ASD in females compared to males.
  • The higher prevalence of ASD in males may be attributed to other strongly male-biased risk factors, masking the influence of de novo events in this sex.