https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Education of students with an intellectual disability: research and practice https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8382 Wed 24 Jul 2013 22:32:49 AEST ]]> Family carers' experiences of participating in a weight management program for overweight children and adolescents with intellectual disabilities: an exploratory study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:37830 Wed 12 May 2021 10:14:38 AEST ]]> Curriculum development for students with profound intellectual and multiple disabilities: how about a quality of life focus? https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13415 Wed 11 Apr 2018 16:26:39 AEST ]]> Student wellbeing for those with profound intellectual and multiple disabilities: same, or same but different? https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13417 Wed 11 Apr 2018 10:07:34 AEST ]]> Inclusive curricula for students with severe intellectual disabilities or profound and multiple learning difficulties: a scoping review https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47063 Tue 13 Dec 2022 15:46:23 AEDT ]]> A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32529 de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C > T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations. We show that the c.2737C > T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes.]]> Thu 16 Aug 2018 10:03:57 AEST ]]> Fatherhood Research Bulletin https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32322 Mon 23 Sep 2019 12:54:28 AEST ]]> Fatherhood Research Bulletin https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32330 Mon 23 Sep 2019 12:41:35 AEST ]]> Fatherhood Research Bulletin https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32309 Mon 23 Sep 2019 10:20:10 AEST ]]> Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47570 Mon 23 Jan 2023 13:46:48 AEDT ]]> Mapping the features of applied cognitive technology for individuals with intellectual and developmental disabilities https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:37839 Mon 17 May 2021 10:10:37 AEST ]]>