Purpose:The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive variants in consanguineous families. Nevertheless, the effects of inbreeding on the degree of intellectual disability are still poorly investigated. Here, we present a detailed analysis of the homozygosity regions in a cohort of 612 patients with intellectual disabilities of different degrees. Methods:We investigated (i) the runs of homozygosity distribution between syndromic and nonsyndromic ID (ii) the effect of runs of homozygosity on the ID degree, using the intelligence quotient score.Results: Our data revealed no significant differences in the first analysis; instead we detected significantly larger runs of homozygosity stretches in severe ID compared to nonsevere ID cases (P = 0.007), together with an increase of the percentage of genome covered by runs of homozygosity (P = 0.03). Conclusion:In accord with the recent findings regarding autism and other neurological disorders, this study reveals the important role of autosomal recessive variants in intellectual disability. The amount of homozygosity seems to modulate the degree of cognitive impairment despite the intellectual disability cause.
Objectives: The aim of this review was to evaluate the methodology used in developing different references charts for fetal corpus callosal (CC) biometry. Methods: Electronic searches in PUBMED and references of retrieved articles was conducted. We included observational studies whose primary aim was to create ultrasound or MRI size charts for fetal CC. Studies were scored against a predefined set of independently agreed methodological criteria and an overall quality score was given to each study. Results: Twelve studies met the inclusion criteria. Quality scores ranged between 17% and 92%. Only 25% of the sonographers were blinded to the outcomes and inter-or intraobserver variation were evaluated in 66.7% and 58.3% of the study, respectively. The highest potential bias was noted in the following fields: ''sample selection'' where only 16.7% of the studies were population-based study, with consecutive or random recruitment of patient; ''description of characteristics of study population'' for which only 8.9% of the studies clearly described a minimum dataset of demographic characteristics; ''inclusion/exclusion criteria'' where a high-risk of bias was noted in 33.3% of the studies which included both low and high-risk pregnancy, did not describe inclusion criteria, or included fetuses with other brain abnormalities. Conclusions: Our review demonstrates substantial heterogeneity in methods of fetal CC measurement. It is possible that such differences in study quality may explain discrepancies between the reported charts. Such discrepancies are likely to influence prenatal counselling and management.
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