The predisposing factors leading to the development of sleep apnoea/hypopnoea syndrome (SAHS) in many cases are unclear. Snoring, a prerequisite for SAHS, runs in families. There have been reports of familial SAHS in several families but this may have resulted from an association with obesity. I have therefore investigated whether SAHS is familial. In a pilot study breathing and oxygen desaturation data during sleep in 40 first degree relatives of 20 non obese SAHS patients has been compared with that in retrospective controls. Ten out of 40 relatives had >15 apnoeas+hypopnoeas/hr of sleep and 8 had >5 4% desaturations/hr. These frequencies of irregular breathing (p<0.005) and desaturation (p<0.0001) are significantly higher than in the British population. A case control study has therefore been performed examining sleep symptoms, sleep studies, upper airway calibre by acoustic reflectance and facial structure by cephalometry in first degree relatives of non obese (BMI<30 kg/m<SUP>2</SUP>) patients with SAHS and matched controls drawn from a general practitioner's register. In a pilot study to determine whether there might be any association between SAHS and Sudden Infant Death Syndrome, it was found that 8 unexpected sudden infant deaths were reported in 28 SAHS families compared to none in 35 control families (p<0.01). This preliminary observation requires independent verification. Thus SAHS is familial and this family tendency is associated with anatomical changes which predispose to upper airway narrowing.
|University of Edinburgh
|Electronic Thesis or Dissertation
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