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Parental And Carer Responses To Angelman Syndrome And Prader-Willi Syndrome, Allyson K. Thomson

Theses: Doctorates and Masters

The research project undertaken as part of this thesis was designed to assess family stress levels and the use of coping strategies among the carers of people with an intellectual disability caused by Angelman syndrome (AS) or Prader-Willi syndrome (PWS). Both syndromes are genomic imprinting disorders that arise from disruptions in genes located within human chromosome 15q11-q13. Although the disease phenotypes are quite distinct, the genetic mechanisms involved are common to both syndromes but involve paternally-derived mutations in PWS as opposed to maternal mutations in AS. Previous investigations in Western Australia (WA) indicated that people with AS and PWS experience …