Advancing paternal age and simplex autism

Autism ◽  
2011 ◽  
Vol 16 (4) ◽  
pp. 367-380 ◽  
Author(s):  
Connor Morrow Puleo ◽  
James Schmeidler ◽  
Abraham Reichenberg ◽  
Alexander Kolevzon ◽  
Latha V Soorya ◽  
...  
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorder ◽  
Significant Interaction ◽  
Maternal Age ◽  
De Novo ◽  
Autism Spectrum ◽  
Paternal Age ◽  
Family Type ◽  
Simplex Family ◽  
Age And Sex

De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers’ offspring. This study examined whether advancing paternal age predicts an increase in simplex ( n = 90) versus multiplex ASD cases ( n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors.

scholarly journals Impact of Paternal Age at Conception on Human Health

2019 ◽  
Vol 65 (1) ◽  
pp. 146-152 ◽  
Author(s):  
Mathieu Simard ◽  
Catherine Laprise ◽  
Simon L Girard
Keyword(s):  
Maternal Age ◽  
De Novo ◽  
Autism Spectrum ◽  
Age Effect ◽  
Age Effects ◽  
Paternal Age ◽  
De Novo Mutations ◽  
Brain Functions ◽  
Offspring Health ◽  
Paternal Age Effect

Abstract BACKGROUND The effect of maternal age at conception on various aspects of offspring health is well documented and often discussed. We seldom hear about the paternal age effect on offspring health, although the link is now almost as solid as with maternal age. The causes behind this, however, are drastically different between males and females. CONTENT In this review article, we will first examine documented physiological changes linked to paternal age effect. We will start with all morphological aspects of the testis that have been shown to be altered with aging. We will then move on to all the parameters of spermatogenesis that are linked with paternal age at conception. The biggest part of this review will focus on genetic changes associated with paternal age effects. Several studies that have established a strong link between paternal age at conception and the rate of de novo mutations will be reviewed. We will next discuss paternal age effects associated with telomere length and try to better understand the seemingly contradictory results. Finally, severe diseases that affect brain functions and normal development have been associated with older paternal age at conception. In this context, we will discuss the cases of autism spectrum disorder and schizophrenia, as well as several childhood cancers. SUMMARY In many Western civilizations, the age at which parents have their first child has increased substantially in recent decades. It is important to summarize major health issues associated with an increased paternal age at conception to better model public health systems.

scholarly journals Risk Factors of Children with Autism Spectrum Disorder (ASD) in Palembang, Indonesia

2020 ◽  
Vol 1 (4) ◽  
pp. 1-8
Author(s):  
Ziske Maritska ◽  
Leonardo Satria ◽  
Nita Parisa
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Nervous System Development ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Paternal Age ◽  
Primary Data ◽  
Polygenic Inheritance ◽  
Children With Asd

Abstract Background: Autism Spectrum Disorder (ASD) is a group of nervous system development disorders with polygenic inheritance patterns, characterized by a type of dysfunctional in social communication and limited also repetitive behaviors.  Risk factors for ASD can be divided into two categories in general: genetic, and environmental factors. To date, a study about risk factors of ASD in Indonesia, let alone Palembang, is limited.  Therefore, this study wished to investigate the risk factors of children with ASD in Dr. Mohammad Hoesin Hospital, Palembang. Method: This study is an observational descriptive study.  Samples were children with ASD who went to Dr. Mohammad Hoesin Hospital, Palembang.  The primary data obtained from a semi-structured interview with parents/guardians of children with ASD, while secondary data obtained from their medical records. Result: The most common risk factors identified in this study are the paternal age and maternal age ≥ 30 years at the time of conception (59,8% and 40.2%), and the history of cesarean delivery (27,8%). Conclusion: This study concludes that the occurrence of ASD in Palembang is multifactorial, involving both genetic and environmental risk factors.

scholarly journals Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

2017 ◽  
Author(s):  
Donna M. Werling ◽  
Harrison Brand ◽  
Joon-Yong An ◽  
Matthew R. Stone ◽  
Joseph T. Glessner ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Multiple Testing ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Paternal Age ◽  
Loss Of Function ◽  
Protein Coding ◽  
Missense Variation ◽  
Genomic Studies

SummaryGenomic studies to date in autism spectrum disorder (ASD) have largely focused on newly arising mutations that disrupt protein coding sequence and strongly influence risk. We evaluate the contribution of noncoding regulatory variation across the size and frequency spectrum through whole genome sequencing of 519 ASD cases, their unaffected sibling controls, and parents. Cases carry a small excess of de novo (1.02-fold) noncoding variants, which is not significant after correcting for paternal age. Assessing 51,801 regulatory classes, no category is significantly associated with ASD after correction for multiple testing. The strongest signals are observed in coding regions, including structural variation not detected by previous technologies and missense variation. While rare noncoding variation likely contributes to risk in neurodevelopmental disorders, no category of variation has impact equivalent to loss-of-function mutations. Average effect sizes are likely to be smaller than that for coding variation, requiring substantially larger samples to quantify this risk.

scholarly journals Parental Age and the Risk of Autism Spectrum Disorder in Oman

2021 ◽  
Author(s):  
Watfa Al-Mamari ◽  
Ahmed Babiker Idris ◽  
Aala' Abdul Rahman Al-Zadjali ◽  
Saquib Jalees ◽  
Sathiya Murthi ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Odds Ratio ◽  
Maternal Age ◽  
Case Control Study ◽  
Autism Spectrum ◽  
Case Control ◽  
Spectrum Disorder ◽  
Paternal Age ◽  
Parental Age ◽  
Control Study

Objective: This study aimed at evaluating advanced parental age as a risk factor for Autism Spectrum Disorder (ASD) in an Omani cohort. Methods: Case-control study of 278 ASD cases compared with 722 sex-matched controls retrieved from the electronic records of the Developmental Paediatric Clinic, Sultan Qaboos University Hospital (SQUH) between January 2015 and June 2016. Results: ASD cases (76.6% male) were mostly diagnosed between 3-4 years of age, with more than 50% of them originating from Muscat and Batinah governorates. Compared to controls, mothers from the case group had significantly higher educational level (post-secondary education versus high school/no formal education (odds-ratio (OR)=1.62; 95% C.I. 1.20-2.19). In a multivariate logistic regression, the odds ratio of maternal age as a risk for ASD increased dramatically with advancing age category (using age<25 as a reference, OR was 3.39, 6.12, 7.86 and 13.13 for age categories 25-29, 30-34, 35-39, and ≥40 years, respectively). The ORs of advancing paternal age as a risk for ASD were also statistically significant (using age<30 as referent, OR was 2.20, 2.36, and 3.12 for age categories 30-34, 35-39 and 40-44 years); however, there was a drop in the effect with paternal age ≥ 45 years (OR=1.42; 95% C.I .64-3.15). Conclusion: Both maternal and paternal increased age were associated with a higher risk of ASD; however, the association was more pronounced and more consistent with advanced maternal age compared to paternal age. Keywords: Autism; parental age; case-control study

scholarly journals Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

scholarly journals Paternal and maternal age at pregnancy and autism spectrum disorders in offspring

2016 ◽  
Vol 55 (6) ◽  
pp. 345 ◽  
Author(s):  
Luh Putu Rihayani Budi ◽  
Mei Neni Sitaresmi ◽  
I Gusti Ayu Trisna Windiani
Keyword(s):  
Autism Spectrum Disorders ◽  
Maternal Age ◽  
Multivariable Analysis ◽  
Autism Spectrum ◽  
Paternal Age ◽  
Control Group ◽  
Smoking During Pregnancy ◽  
Past Half Century ◽  
Spectrum Disorders ◽  
Paternal Smoking

Background The prevalence of autism spectrum disorders(ASDs) has increased 10 times over the past half century,while paternal and maternal age at pregnancy has alsoincreased. Studies looking for an association between paternalor maternal age at pregnancy and ASDs in offspring have notbeen conclusive.Objective To assess for possible associations between paternaland maternal age at pregnancy and ASDs in offspring.Methods This case-control study had 50 case and 100control subjects, each case was matched for age and genderto two controls. Case subjects were obtained by consecutivesampling of patients aged 18 months to 7 years who visited theDevelopmental Behavioral & Community Pediatrics OutpatientClinic and private growth and development centers from Januaryto April 2013, while control group were children of the sameage range and same gender who visited pediatric outpatientclinic at Sanglah Hospital mostly due to acute respiratory tractinfection, without ASDs as assessed by the DSM-IV-TR criteria.We interviewed parents to collect the following data: maternaland paternal age at pregnancy, child’s birth weight, historyof asphyxia, hospital admission during the neonatal period,pathological labor, maternal smoking during pregnancy, paternalsmoking, and gestational age. Data analysis was performed withChi-square and Fisher’s exact tests.Results Multivariable analysis showed that higher paternal ageat pregnancy was associated with ASDs in offspring (OR 6.3;95%CI 2.0 to 19.3; P 0.001). However, there was no significantassociation between maternal age during pregnancy and theincidence of ASDs. Asphyxia and paternal smoking were alsoassociated with higher incidence of ASDs in the offspring (OR10.3; 95%CI 1.9 to 56.5; P 0.007 and OR 3.2; 95%CI 1.5 to 6.9;P 0.003, respectively).Conclusion􀀃􀀳􀁄􀁗􀁈􀁕􀁑􀁄􀁏􀀃􀁄􀁊􀁈􀀃􀂕􀀗􀀓􀀃􀁜􀁈􀁄􀁕􀁖􀀃􀁌􀁑􀁆􀁕􀁈􀁄􀁖􀁈􀁇􀀃􀁗􀁋􀁈􀀃􀁕􀁌􀁖􀁎􀀃􀁒􀁉􀀃􀀤􀀶'􀁖􀀃in offspring by 6.3 times. In addition, paternal smoking increased the risk of ASDs in offspring by 3.2 times and asphyxia increasedthe risk of ASDs in offspring by 10.3 times.

scholarly journals Etiology of Autism the Complexity of Risk Factors in Autism Spectrum Disorder

10.5772/59109 ◽  
2015 ◽  
Author(s):  
Agnes Cristina Fett-Conte ◽  
Ana Luiza Bossolani-Martins ◽  
Dante Bruno Avanso Rosan
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder
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