Epidemiology of craniofacial anomalies and association with intellectual disability in Western Australia: A population-based study

Research output: ThesisDoctoral Thesis

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Abstract

Previous craniofacial research has disproportionately focussed on orofacial clefts leaving little known about rare craniofacial anomalies. This thesis utilised longitudinal population administrative data to provide comprehensive evidence related to the epidemiology of rare CFA, their association with neurodevelopmental disorders, and related hospital burden. We found: (i) rare CFA were common among mothers undertaking fertility treatments or with pre-existing medical conditions, (ii) one in ten children born with a CFA had intellectual disability, (iii) a high incidence of potentially preventable hospitalisations among children with rare CFA. This thesis underpins the value of total-population administrative data in rare disease research.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Baynam, Gareth, Supervisor
  • Leonard, Helen, Supervisor
  • Slack-Smith, Linda, Supervisor
Thesis sponsors
Award date14 Feb 2023
DOIs
Publication statusUnpublished - 2023

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