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Background: Dysfunctional breathing (DB) is a respiratory disorder involving an upper chest breathing pattern and respiratory symptoms that cannot be attributed to a medical diagnosis. Aim: The overall aim of this thesis was to describe patients with DB and investigate clinical outcomes after physiotherapy treatment. Methods: Study I was descriptive and comparative, that included 25 patients with DB and 25 age- and sex-matched patients with asthma. Health-related quality of life (HRQoL), anxiety, depression, sense of coherence, influence on daily life due to breathing problems, respiratory symptoms, emergency room visits and asthma medication were investigated. Study II, a 5-year follow-up study based on the same sample as study I (22 patients with DB, 23 patients with asthma), studied treatment outcomes after information and breathing retraining. Study III was descriptive and correlational (20 healthy subjects), investigating whether the Respiratory Movement Measuring Instrument (RMMI) can discriminate between different breathing patterns in varying body positions. Study III also studied correlations between respiratory movements and breathing volumes (12 healthy subjects). Study IV was a single-subject AB design with follow-ups. Self-registered patient-specific respiratory symptoms and respiratory-related activity limitations and breathing pattern (measured with the RMMI) were evaluated after an intervention consisting of information and breathing retraining in five patients with DB. Results: Patients with DB had lower HRQoL (SF-36): vitality (mean 47 vs. 62), social functioning (70 vs. 94) and role emotional (64 vs. 94) (p<0.05) than patients with asthma. The DB group had a higher prevalence of anxiety (56% vs. 24%) and experienced more breathing problems than the asthma group. Patients with DB had made several emergency room visits and had been treated with asthma medication. At the 5-year follow-up, patients with DB showed improved HRQoL (SF-36): physical function 77 to 87 (p=0.04), decreased breathing problems and emergency room visits, and they were not treated with asthma medication. The RMMI can differentiate between different breathing patterns in different body positions. Strong correlations between respiratory movements and breathing volumes were observed (rs 0.86-1.00). The results in study IV indicate that patients with DB benefit from information and breathing retraining regarding decreased respiratory symptoms and activity limitations and improved breathing pattern.

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Our understanding of the neural control of breathing-swallowing coordination (BSC) is largely unclear. Although brainstem control is undoubtedly predominant, this research investigated the hypothesis that the cortex becomes increasingly influential in BSC between birth and adulthood. The main paradigm used to test this primary hypothesis was a comparison of BSC in conditions along a continuum of volitional through non-volitional swallowing on the basis of a decreasing level of cortical activation along this continuum. Voluntarily-initiated swallows during wakefulness were at one end of the continuum and reflexively-initiated swallows during sleep were at the other extreme. Non-volitional wakeful swallows were considered between these two conditions. The BSC of ten infants between birth and 1 year of age and twenty adults between the ages of 20 and 75 years was recorded using non-invasive time-locked recording methods. In order to apply the 'continuum-of-volition' paradigm to swallowing conditions in infants, BSC was monitored during nutritive (breast- or bottle-feeding), non-nutritive wake, and sleep swallows. Infants were monitored longitudinally to determine whether maturation of the cortex and corticobulbar tracts during the first year of life influenced the patterns of BSC. In adults, BSC was monitored during three non-nutritive conditions: volitional, spontaneous wake, and sleep conditions. Post-swallow expiration was found to be predominant in all conditions for all participants at all ages. In addition, the infant results revealed that nutritive BSC matured during the first year of life and differed to non-nutritive wakeful BSC, particularly in the first 2 months of life. Non-nutritive wakeful and sleep BSC did not differ from one another. In summary, the infant results support increasing cortical input into volitional nutritive BSC, an early impact of feeding on BSC, and no difference between BSC when asleep and non-volitional non-nutritive swallows when awake. The results obtained from adults revealed that irrespective of the level of arousal, volitional BSC is different to non-volitional BSC. These results imply that cortical influence on BSC is limited to conditions in which swallowing is voluntarily initiated. The combined interpretation of infant and adult results suggest that cortical influence over BSC, although increasing with maturation, is limited to the volitional swallowing conditions of feeding in infants and during non-nutritive but volitional swallows in adults. From this, it can be deduced that the most likely cortical sites involved in BSC are those involved in the voluntary initiation or planning of swallowing. Infant and adult swallowing apnoea duration (SAD) was also compared across all of the above conditions. SAD was influenced by feeding throughout the first year of life but was not influenced by level of arousal at any stage in the first year or in adulthood. Also, SAD did not change with age in any swallowing condition during infancy. However, comparison of non-nutritive wake SAD across the lifespan revealed that SAD of newborns and young adults is shorter than that of elderly adults, with no difference between consecutive age-groups: newborns, one-year-olds, and young adults. These results suggest SAD is largely mature at birth and impervious to descending suprabulbar influence. Finally, the effects of volitional swallowing and level of arousal on peak submental surface electromyography (SEMG) was investigated in adults. Like BSC, submental muscle activity was influenced only by volitional swallowing, being longer for volitional than non-volitional swallows without being influenced by level of arousal. Since peak submental SEMG activity represents a measure of relative hyolaryngeal excursion, these results suggest that the cortex has some degree of influence over this particular feature of pharyngeal-stage swallowing.

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