https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Persistence of Primitive Reflexes in Developmental Disorders https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43738 Wed 28 Sep 2022 10:43:59 AEST ]]> A review of behavioral treatments for sleep disturbances in civilians who have experienced trauma https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47099 Wed 14 Dec 2022 09:51:36 AEDT ]]> Instructional Strategies for People with Profound Intellectual and Multiple Disabilities: Overview of Approaches and Two Case Studies https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44936 Tue 25 Oct 2022 10:36:36 AEDT ]]> Caregivers report on the pathway to a formal diagnosis of angelman syndrome: A comparison across genetic etiologies within the global angelman syndrome registry https://nova.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 ]]> Communication in 22q11.2 deletion syndrome: a brief overview of the profile, intervention approaches, and future considerations https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38841 Tue 15 Feb 2022 15:40:34 AEDT ]]> Augmentative and alternative communication intervention for people with angelman syndrome: a systematic review https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38408 Tue 07 Sep 2021 14:44:32 AEST ]]> An Overview of the Adaptive Behaviour Profile in Young Children with Angelman Syndrome: Insights from the Global Angelman Syndrome Registry https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50652 Tue 01 Aug 2023 11:42:57 AEST ]]> Research priorities of the autism community: a systematic review of key stakeholder perspectives https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40624 Thu 25 Aug 2022 15:24:56 AEST ]]> Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:54904 Thu 21 Mar 2024 11:34:46 AEDT ]]> Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:55785 Sat 22 Jun 2024 12:41:07 AEST ]]> Positive outcomes in work-related social interaction skills using textual prompts for young adults with autism https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44221 Mon 10 Oct 2022 16:59:53 AEDT ]]>