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Journal of Assisted Reproduction and... Jun 2018To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin.
METHODS
We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB).
RESULTS
The systematic review identified 13 reports presenting unique data from 23 studies that related conception following ART to occurrence of imprinting disorders. Multiple studies of four disorder were identified, for which meta-analysis yielded the following summary estimates of associations with a history of ART: AS, summary odds ratio (sOR) = 4.7 (95% confidence interval (CI) 2.6-8.5, 4 studies); BWS, sOR = 5.8 (95% CI 3.1-11.1, 8 studies); PWS, sOR = 2.2 (95% CI 1.6-3.0, 6 studies); SRS, sOR = 11.3 (95% CI 4.5-28.5, 3 studies). Only one study reported on each of TNDB and RB.
CONCLUSION
Published data reveal positive associations between history of ART conception and each of four imprinting disorders. Reasons for these associations warrant further investigation.
Topics: Chromosome Disorders; Female; Fertilization; Genomic Imprinting; Humans; Reproductive Techniques, Assisted; Risk Factors
PubMed: 29696471
DOI: 10.1007/s10815-018-1173-x -
Journal of Intellectual Disability... Oct 2009An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number... (Review)
Review
BACKGROUND
An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes.
METHOD
A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups.
RESULTS
The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups.
CONCLUSIONS
There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.
Topics: Angelman Syndrome; Child Development Disorders, Pervasive; Female; Humans; Infant; Intellectual Disability; Male; Phenylketonurias; Tuberous Sclerosis
PubMed: 19708861
DOI: 10.1111/j.1365-2788.2009.01197.x -
Frontiers in Psychology 2018Humor, both producing and appreciating, underpins positive social interactions. It acts as a facilitator of communication. There are clear links to wellbeing that go...
Humor, both producing and appreciating, underpins positive social interactions. It acts as a facilitator of communication. There are clear links to wellbeing that go along with this form of social engagement. However, humor appears to be a seldom studied, cross-disciplinary area of investigation when applied to people with an intellectual disability. This review collates the current state of knowledge regarding the role of humor behavior in the social interactions of people with intellectual disabilities and their carers. A systematic review utilizing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was completed, which aimed to explore the current state of knowledge and quality of empirical evidence relating to humor in people with intellectual disabilities. Following this, articles were grouped thematically and summarized. A comprehensive search of four electronic databases (1954-2017) and additional search strategies yielded 32 articles which met the final inclusion criteria. Humor played a significant positive and negative role in the social interactions of people with intellectual disabilities. Research had investigated humor in the classroom and humor expression in different groups including those with autism, Down syndrome, Angelman syndrome, Williams syndrome, and Rett syndrome. Few investigations directly studied humor appreciation and comprehension. Humor comprehension was reportedly supported by gestures. Some groups with intellectual disabilities found non-literal humor (e.g., sarcasm, irony) more difficult to understand, which may affect social relationships. Various types of humor were found to be appreciated. The role of humor in relationship development, social facilitation, creativity, and stigma had all received some limited attention. Humor also played a role for carer groups in coping with and enjoying the caring role. Research varied in quality with few experimental studies and mainly quasi-experimental and well-conducted, qualitative studies. This review revealed the importance of humor behavior in many aspects of the social lives of people with intellectual disabilities. Limited disparate research exists pertaining to humor in this group, suggesting the need for further robust research in this area, including more high quality primary research in the areas of humor production, appreciation, comprehension, and stigma.
PubMed: 30298034
DOI: 10.3389/fpsyg.2018.01745