https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46293 UBE3A pathogenic variants (ubiquitin protein ligase EA₃), imprinting defects or uniparental disomy (patUPD) etiology. The aim of this paper is to explore parent’s experiences of the pathway to diagnosis involving 394 children with formal diagnoses of AS. Methods: Data from the Global Angelman Syndrome Registry on the age of formal diagnosis, the process involved in formal diagnosis, professionals involved in the diagnosis, the number of tests taken and the prevalence of misdiagnoses were compared across deletion and non-deletion (UBE3A pathogenic variant, imprinting and patUPD) etiologies. Results: Compared to those with deletion etiology, individuals with non-deletions are more likely to (a) receive a diagnosis later in childhood (i.e., past the age of 3 years old), (b) have a greater number of professionals and tests involved and (c) to be misdiagnosed with global developmental delay. Conclusions: The methods identified for formal diagnoses mirrored the current advances in technology and accessibility. The benefit of using parental report from registries to understand the diagnostic process and promote early and accurate diagnosis of AS is discussed.]]> Tue 15 Nov 2022 08:58:03 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38408 Tue 07 Sep 2021 14:44:32 AEST ]]>