Journal Articles

Permanent URI for this collectionhttps://mro.massey.ac.nz/handle/10179/7915

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    Validation of the Austin Assessment: A screening tool for cerebral visual impairment related visual issues.
    (Public Library of Science (PLoS), 2023-11-02) McDowell N; Butler P; Satgunam P
    Cerebral visual impairment is the most common cause of vision impairment affecting children in the economically developed world with a prevalence rate of approximately 3.4%. Currently there are limited options for screening for cerebral visual impairment, resulting in many children going undiagnosed, especially those that have normal visual acuity. The aim of this research was to validate an iPad App called the Austin Assessment, which was developed as a potential screening tool for cerebral visual impairment related visual issues. The research involved three separate phases: (1) creating a database of normative ranges for children aged 5-18 across the different variables of the Austin Assessment, (2) using the Austin Assessment to screen children aged 5-13 to assess the effectiveness of the Austin Assessment as a screening tool for CVI related visual issues, and (3) conducting specific validation research assessing children using the Austin Assessment and an already validated visual search tool. Each phase used different quantitative research methodologies to help show the effectiveness of the Austin Assessment as a screening tool for cerebral visual impairment related visual issues. From phase one of the research, thresholds were established for three variables of the Austin Assessment for the age groupings of 5-8, 9-12 and 13-18. If a child meets one of these thresholds this indicates further assessment is required to determine if they do in fact have cerebral visual impairment related visual issues. Phase two identified 17 children out of 270 who had clinical findings indicating visual issues; potentially indicative of CVI; investigation into the nature of these visual issues is ongoing. Phase three found that the Austin Assessment has moderate diagnostic value for each age group, with good sensitivity and specificity, making it effective at distinguishing those children who have visual issues from those who have typical vision. Further investigation is needed to confirm this initial validation.
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    Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families
    (Wiley Periodicals LLC on behalf of International League Against Epilepsy, 2021-03) Jeffrey JS; Leathem J; King C; Mefford HC; Ross K; Sadleir LG
    Objectives Identifying genetic pathogenic variants improves clinical outcomes for children with developmental and epileptic encephalopathy (DEE) by directing therapy and enabling accurate reproductive and prognostic information for families. We aimed to explore the additional personal utility of receiving a genetic diagnosis for families. Methods Semi-structured interviews were conducted with fifteen families of children with a DEE who had received a genetic diagnosis. The interviews stimulated discussion focusing on the impact of receiving a genetic diagnosis for the family. Interview transcripts were analyzed using the six-step systematic process of interpretative phenomenological analysis (IPA). Results Three key themes were identified: “Importance of the label,” “Relief to end the diagnostic journey,” and “Factors that influence personal utility.” Families reported that receiving a genetic label improved their knowledge about the likely trajectory of the DEE, increased their hope for the future, and helped them communicate with others. The relief of finally having an answer for the cause of their child's DEE alleviated parental guilt and self-blame as well as helped families to process their grief and move forward. Delay in receipt of a genetic diagnosis diluted its psychological impact. Significance To date, the factors associated with the personal utility of a genetic diagnosis for DEEs have been under appreciated. This study demonstrates that identifying a genetic diagnosis for a child's DEE can be a psychological turning point for families. A genetic result has the potential to set these families on an adaptive path toward better quality of life through increased understanding, social connection, and support. Early access to genetic testing is important as it not only increases clinical utility, but also increases personal utility with early mitigation of family stress, trauma, and negative experiences.