Disturbed sleep is common in the Australian community and international population-based studies (primarily US-based) suggest much of this is attributable to specific sleep disorders, the majority of which are undiagnosed.

Few such studies have been conducted in Australia – none using comprehensive sleep assessments – so that local prevalence rates are inferred rather than concrete, limiting understanding and effective health planning. Furthermore, the phenotypic characteristics that might aid identification of these disorders, increase understanding of their pathophysiological basis and identify the co-morbidities that they either predispose to or which are compounded by their presence remain to be defined. Moreover, while it is understood that there are familial predispositions to these disorders, the genetic basis of these predispositions and how this influences the phenotypic characteristics associated with them is unknown. There is a critical need for more information on the prevalence, phenotype and genetic basis of sleep disorders, particularly the three most common variants: obstructive sleep apnea (OSA), insomnia and restless legs syndrome/periodic leg movement syndrome (RLS/PLMS).

The study outlined in this application will leverage off data already collected from participants of the Western Australian (Raine) pregnancy cohort, an internationally unique longitudinal study of 2,868 individuals followed over the last 23 years with comprehensive assessments starting in utero, continuing throughout childhood and, now, into early adulthood. Specifically, genetic data have been obtained in all these participants and as of mid-2014, 1,200 of them will have undergone comprehensive laboratory-based sleep studies and anthropometric measurements, 7 day/night actigraphy-based activity monitoring, cognitive function testing and questionnaires. The proposed study will replicate this comprehensive battery of tests and collect blood for genetic analyses in the parents of these 1,200 young adults.

The specific aims of this project are to:

  • Determine the prevalence of common sleep disorders, i.e., OSA, insomnia and RLS/PLMS, in a typical middle-aged Australian population-based cohort;
  • Characterise the phenotype of common sleep disorders in a middle-aged Australian population based cohort in order to determine the most important phenotypic characteristics associated with health impairments and relevant risk factors.
  • Use parent and offspring data to determine the associations between parental and offspring phenotype and to discover genetic risk variants associated with common sleep disorders.

This project is a collaborative effort between the School of Anatomy, Physiology and Human Biology (APHB), the West Australian Sleep Disorders Research Institute (WASDRI) at Sir Charles Gairdner Hospital and GOHaD:


This work will be supported by the National Health and Medical Research Council in 2015 - 2017: $1,419,485. Prevalence, phenotype and genotype of common sleep disorders (1084947).

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