Paediatrics (RCH) - Research Publications
Permanent URI for this collection
Search Results
1 - 2 of 2
-
ItemTobacco product use and smoking frequency among US adults with intellectual and developmental disabilities(WILEY, 2018-08)BACKGROUND: People with intellectual and developmental disabilities (IDD) have been overlooked in tobacco use research although they are likely to experience tobacco-related health disparities. This study examined tobacco product use and smoking frequency and amount among a sample of US Special Olympics athletes with IDD. METHODS: Multiple regression analysis was used to test whether age, gender, body mass index, blood pressure, bone density, eating fruits and vegetables and family member tobacco use were correlated with the number of cigarettes smoked per day. RESULTS: The sample of people with IDD who used tobacco (n = 501) were aged 18-75 (M = 33.37) and 76.4% were male. About 73.6% reported cigarette use only, 10.6% reported dual or poly use of cigarettes and other tobacco products (cigars, pipe, and chewing tobacco) and 15.8% reported using only tobacco products other than cigarettes. Men were more likely than women to use tobacco products other than cigarettes. Of the cigarette smokers, 79.6% were daily smokers, and their mean cigarettes per day was 10.08 (SD = 9.50). Special Olympics athletes who did not have low bone density and those who consumed fruits and vegetables less than daily reported higher numbers of cigarettes per day. CONCLUSIONS: Although people with IDD are less likely to use tobacco than the general population, study results suggest that people with IDD who smoke cigarettes are just as likely as smokers in the general US population to smoke daily. Improving overall health behaviours may be important in helping smokers with IDD to reduce their tobacco use. Research is needed to understand longitudinal patterns of tobacco use and how to prevent tobacco use among people with IDD.
-
ItemSignificantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing(MDPI, 2019-08-02)Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study reports on brothers (B1 and B2), aged 5 and 2 years, with autistic features and language delay, but a higher non-verbal IQ in comparison to typical FXS. CGG sizing using AmplideX PCR only identified premutation (PM: 55-199 CGGs) alleles in blood. Similarly, follow-up in B1 only revealed PM alleles in saliva and skin fibroblasts; whereas, an FM expansion was detected in both saliva and buccal DNA of B2. While Southern blot analysis of blood detected an unmethylated FM, methylation analysis with a more sensitive methodology showed that B1 had partially methylated PM alleles in blood and fibroblasts, which were completely unmethylated in buccal and saliva cells. In contrast, B2 was partially methylated in all tested tissues. Moreover, both brothers had FMR1 mRNA ~5 fold higher values than those of controls, FXS and PM cohorts. In conclusion, the presence of unmethylated FM and/or PM in both brothers may lead to an overexpression of toxic expanded mRNA in some cells, which may contribute to neurodevelopmental problems, including elevated autism features.