https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:18887 Sat 24 Mar 2018 08:03:12 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:18888 Sat 24 Mar 2018 08:03:11 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:18886 Sat 24 Mar 2018 08:03:11 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28217 200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ~80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing.]]> Sat 24 Mar 2018 07:28:29 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23863 Sat 24 Mar 2018 07:12:10 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42141 z = 1.23, df = 286, p = 0.22; traditional vs intention-to-treat simulation + traditional Mann–Whitney–Wilcoxon z = 0.23, df = 323, p = 0.81). Conclusion: This research contributes to the evidence base which suggests that simulation can partially replace traditional placement time for speech-language pathology students without loss of competency, substantiating its value as an alternative placement model in speech-language pathology programmes.]]> Fri 19 Aug 2022 09:09:47 AEST ]]>