Neurodisability syndromes with significant respiratory involvement
Down syndrome | High incidence of obstructive sleep apnoea. Immunodeficiency predisposing to respiratory infections. Structural lung abnormalities including simplified lung parenchyma and subpleural cysts. |
Ataxia-telangiectasia | Aspiration-related lung disease, frequent chest infections secondary to immunodeficiency, interstitial lung disease. |
Rett syndrome | Abnormal breathing pattern (especially while awake) like breath holding, apnoea, hyperventilation, rapid shallow breathing and spontaneous Valsalva manoeuvres. |
Worster-Drought syndrome | Bulbar and pseudobulbar palsy leading to difficulty swallowing, aspiration, recurrent respiratory infections and gastro-oesophageal reflux may be present in a high proportion of patients. |
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