scholarly journals A comprehensive meta-analysis of common genetic variants in autism spectrum conditions

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Varun Warrier ◽  
Vivienne Chee ◽  
Paula Smith ◽  
Bhismadev Chakrabarti ◽  
Simon Baron-Cohen
Keyword(s):  
Genetic Variants ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
Common Genetic Variants

scholarly journals Prenatal and postnatal exposure to acetaminophen in relation to autism spectrum and attention-deficit and hyperactivity symptoms in childhood: Meta-analysis in six European population-based cohorts

2021 ◽  
Author(s):  
Silvia Alemany ◽  
Claudia Avella-García ◽  
Zeyan Liew ◽  
Raquel García-Esteban ◽  
Kosuke Inoue ◽  
...  
Keyword(s):  
Attention Deficit ◽  
Clinical Symptoms ◽  
Meta Analysis ◽  
Collaborative Study ◽  
Population Based ◽  
Autism Spectrum ◽  
European Population ◽  
Autism Spectrum Conditions ◽  
Adhd Symptoms ◽  
Postnatal Exposure

AbstractThe potential etiological role of early acetaminophen exposure on Autism Spectrum Conditions (ASC) and Attention-Deficit/Hyperactivity Disorder (ADHD) is inconclusive. We aimed to study this association in a collaborative study of six European population-based birth/child cohorts. A total of 73,881 mother–child pairs were included in the study. Prenatal and postnatal (up to 18 months) acetaminophen exposure was assessed through maternal questionnaires or interviews. ASC and ADHD symptoms were assessed at 4–12 years of age using validated instruments. Children were classified as having borderline/clinical symptoms using recommended cutoffs for each instrument. Hospital diagnoses were also available in one cohort. Analyses were adjusted for child and maternal characteristics along with indications for acetaminophen use. Adjusted cohort-specific effect estimates were combined using random-effects meta-analysis. The proportion of children having borderline/clinical symptoms ranged between 0.9 and 12.9% for ASC and between 1.2 and 12.2% for ADHD. Results indicated that children prenatally exposed to acetaminophen were 19% and 21% more likely to subsequently have borderline or clinical ASC (OR = 1.19, 95% CI 1.07–1.33) and ADHD symptoms (OR = 1.21, 95% CI 1.07–1.36) compared to non-exposed children. Boys and girls showed higher odds for ASC and ADHD symptoms after prenatal exposure, though these associations were slightly stronger among boys. Postnatal exposure to acetaminophen was not associated with ASC or ADHD symptoms. These results replicate previous work and support providing clear information to pregnant women and their partners about potential long-term risks of acetaminophen use.

scholarly journals Consortium genome-wide meta-analysis for childhood dental caries traits

2017 ◽  
Author(s):  
Simon Haworth ◽  
Dmitry Shungin ◽  
Justin T van der Tas ◽  
Strahinja Vucic ◽  
Carolina Medina Gomez ◽  
...  
Keyword(s):  
Dental Caries ◽  
Genetic Variants ◽  
Primary Teeth ◽  
Meta Analysis ◽  
Genetic Effects ◽  
Permanent Dentition ◽  
Permanent Teeth ◽  
Common Disease ◽  
Genome Wide ◽  
Common Genetic Variants

AbstractPrior studies suggest dental caries traits in children and adolescents are partially heritable, but there has been no large-scale consortium genome-wide association study (GWAS) to date. We therefore performed GWAS for caries in participants aged 2.5-18.0 years from 9 contributing centers. Phenotype definitions were created for the presence or absence of treated or untreated caries, stratified by primary and permanent dentition. All studies tested for association between caries and genotype dosage (imputed to Haplotype Reference Consortium or 1000 Genomes phase 1 version 3 panels) accounting for population stratification. Fixed–effects meta-analysis was performed weighted by inverse standard error. Analysis included up to 19,003 individuals (7,530 affected) for primary teeth and 13,353 individuals (5,875 affected) for permanent teeth. Evidence for association with caries status was observed at rs1594318-C for primary teeth (intronic within ALLC, Odds Ratio (OR) 0.85, Effect Allele Frequency (EAF) 0.60, p 4.13e-8) and rs7738851-A (intronic within NEDD9, OR 1.28, EAF 0.85, p 1.63e-8) for permanent teeth. Consortium-wide estimated heritability of caries was low (h2 of 1% [95% CI: 0%:7%] and 6% [95% CI 0%:13%] for primary and permanent dentitions, respectively) compared to corresponding within-study estimates (h2 of 28%, [95% CI: 9%:48%] and 17% [95% CI:2%:31%]) or previously published estimates. This study was designed to identify common genetic variants with modest effects which are consistent across different populations. We found few single variants associated with caries status under these assumptions. Phenotypic heterogeneity between cohorts and limited statistical power will have contributed; these findings could also reflect complexity not captured by our study design, such as genetic effects which are conditional on environmental exposure.Author summaryDental caries (tooth decay) is a common disease in children. Previous studies suggest genetic factors alter caries risk, but to date there is a gap of knowledge in identifying which specific genetic variants are responsible. We undertook analysis in a consortium including around 19,000 children and investigated whether any of 8 million common genetic variants were associated with risk of caries in primary (milk) or permanent teeth. If identified, these variants are used as ‘tags’ to highlight genes which may be involved in a disease. We identified variants in two loci associated with caries status; in the primary (rs1594318) and permanent dentition (rs7738851). The former is intronic in ALLC, a gene with poorly understood function. The latter is an intronic variant within NEDD9, a gene which has several known functions including a role in development of craniofacial structures. To gain a more comprehensive understanding of genetic effects which influence caries larger studies and a better understanding of environmental modifiers or interactions with genetic effects are required.

scholarly journals Clinical Situations in Which the Diagnosis of Autism is Debatable: An Analysis and Recommendations

2021 ◽  
pp. 070674372110414
Author(s):  
Pierre Defresne ◽  
Laurent Mottron
Keyword(s):  
Autism Spectrum Disorder ◽  
Clinical Practice ◽  
Diagnostic Criteria ◽  
Genetic Variants ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Clinical Expression ◽  
Broad Category ◽  
Diagnostic Instruments ◽  
Common Genetic Variants

The “autism spectrum disorder” (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations.

Recognition of affective prosody in autism spectrum conditions: A systematic review and meta-analysis

Autism ◽  
2021 ◽  
pp. 136236132199572
Author(s):  
Minyue Zhang ◽  
Suyun Xu ◽  
Yu Chen ◽  
Yi Lin ◽  
Hongwei Ding ◽  
...  
Keyword(s):  
Systematic Review ◽  
Recognition Performance ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
Effect Estimate ◽  
Typically Developing ◽  
Autism Spectrum Condition ◽  
Affective Prosody ◽  
Spectrum Condition

Affective prosody recognition is an important area of research in autism spectrum conditions where difficulties in social cognition have been frequently observed. To probe into the mixed results reported in the literature, we conducted a systematic review with meta-analysis and examined potential factors that could explain the inconsistent results. Our literature search included six electronic databases for studies that compared the affective prosody recognition performance in individuals with autism spectrum condition with typically developing participants, which yielded 23 papers eligible for quantitative synthesis. Using a random-effects model, we obtained a moderate-to-large pooled effect (Hedges’ g = −0.63) for the overall affective prosody recognition performance of autism spectrum condition participants, which, however, reduced substantially (to −0.26) and became non-significant after the correction for publication bias. The number of answer codes was found to be a significant moderator for the effect estimate, whereas the number of speakers was not. Moreover, the magnitude of the pooled effect estimate varied across emotions. The findings suggested moderate differences in affective prosody recognition ability between autism spectrum condition and typically developing individuals, which reduced to marginal difficulties for autism spectrum condition when the impact of publication bias was taken into account. Diversity in the number of answer codes could have differential effects on affective prosody recognition performance in autism spectrum condition, which varied across emotions. The present review and meta-analysis demonstrated the insufficiency of research on affective prosody recognition in autism spectrum condition, highlighting a need for further exploration of the contributors and underlying mechanisms for specific affective prosody recognition difficulties. Lay abstract Differences in understanding others’ emotions and attitudes through features in speech (e.g. intonation) have been observed in individuals with autism spectrum conditions, which contribute greatly to their social communication challenges. However, some studies reported that individuals with autism spectrum condition performed comparably to typically developing individuals on affective prosody recognition. Here, we provide a comprehensive review with statistical analysis of 23 existing studies on this topic to examine potential factors that could explain the discrepancies. Compared with typically developing individuals, autism spectrum condition participants generally appeared to encounter more difficulties in affective prosody recognition. But this finding was likely due to the tendency of the existing research to overly focus on deficits in autism. The affective prosody recognition performance in individuals with autism spectrum condition was closely related to the number of answer options offered to them. Moreover, the degree of difficulty in affective prosody recognition encountered by individuals with autism spectrum condition varied across emotions. The findings of this systematic review highlighted the need for further research on affective prosody recognition in autism (e.g. studies that include tonal language speakers and autism spectrum condition individuals with lower cognitive or verbal abilities).

scholarly journals Inclusion and Wellbeing for People with Autism and the Role of Built Environment

10.29007/ljxc ◽  
2018 ◽  
Author(s):  
Andrei Pomana
Keyword(s):  
Built Environment ◽  
Intellectual Development ◽  
Meta Analysis ◽  
Physical Space ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
Communication Difficulties ◽  
Sensory Processing Disorders ◽  
The Cost

Autism Spectrum Conditions (ASC) are neurological disorders which make inclusion in society very difficult for the affected individuals. The main challenges that people with autism face are related to sensory processing disorders, communication difficulties and restricted repetitive patterns of behaviour. Current methods for integrating people with autism focus primarily on equipping autistic individuals with the tools to tolerate circumstances that they might find uncomfortable in social day-to-day situations. The society’s response on accommodating the condition is usually restricted to improving access to selected spaces which often have limited functionality and give the autistic narrow margins for physical and intellectual development. The paper shows the preliminary results of a qualitative meta-analysis of the extant literature relating to the balance between the cost that society needs to pay for the inclusion of people with autism versus the benefits that it can receive in the economical, social and human rights context. Also, employing the same methodology, the study explores the way in which built environment can have a contribution to the integration of people with autism and the degree to which inclusive physical space represents a positive factor to an autistic individual’s subjective wellbeing and quality of life.

scholarly journals Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

2013 ◽  
Vol 97 (6) ◽  
pp. 1395-1402 ◽  
Author(s):  
Toshiko Tanaka ◽  
Julius S Ngwa ◽  
Frank JA van Rooij ◽  
M Carola Zillikens ◽  
Mary K Wojczynski ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Observational Studies ◽  
Meta Analysis ◽  
Macronutrient Intake ◽  
Genome Wide ◽  
Common Genetic Variants
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