Air swallowing in Rett syndrome

Abstract

The possible causes of excessive swallowing of air leading to bloating, which is common in Rett syndrome (RS), were investigated during feeding and at rest. Seven individuals with RS aged between 4 and 33 years (three with air bloat) underwent feeding videoflouroscopy and concurrent respiration monitoring. The results were compared with a randomly selected group of 11 individuals, aged between 2 and 16 years, with quadriplegic cerebral palsy and feeding problems, some of whom had mild air bloat. All individuals from both groups had isolated pharyngeal swallows and several mouth breathed; this may account for some air swallowing but not the severe air bloat characteristic of RS. Thirty‐three individuals with RS aged between 3 and 44 years were monitored for nasal respiration, chest movements, swallowing, and vocal cord position at rest (between feeding). Twenty had air bloat, 17 of whom swallowed air during breath‐holding in the same way, and three gulped air during hyperventilation. Of the 13 without air bloat, eight did not have recurrent breath‐holding and five did, but without concurrent air swallowing. Several methods for reducing air swallowing in apnoea were investigated. The most successful was a dummy with an air leak, but this was poorly tolerated and could only be used for short periods of time. Apnoeas and air bloat are often worse when individuals are distressed and may in some individuals be reduced by anxiolytic medications.

Deficiency of GABAergic synaptic inhibition in the Kölliker–Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome

“…Crucially, Bautista & Dutschmann () reported a pattern of motor activity in the larynx upon KF disinhibition that would be conducive to aspiration during swallowing. These events along with air swallowing are common in patients with RTT and generate difficulties in feeding to the point of requiring gastrostomy (Morton et al ., , ; Isaacs et al . ; Downs et al .…”

Air swallowing as a tic

“…Aerophagy has been described as a cause of irritable bowel syndrome [14] and is frequently reported in association with neurological disorders and learning disabilities, with a high incidence in institutionalized patients [13]. In particular, it has been linked with Huntington's disease [15] and Rett syndrome [16] in which it is particularly common and is thought to be due to abnormal feeding patterns during feeding or to specific oropharyngeal problems. Adults with aerophagy have recently been shown to have an increased prevalence of anxiety [17], and anxiety per se has been linked to increased swallowing rates in normal subjects [18], which may suggest a possible precipitating factor in predisposed individuals.…”

Aerophagia in adolescents is associated with exposure to adverse life events and psychological maladjustment

“…Etiology of this disorder remains obscure. Initial studies have suggested that AP is common among neurologically handicapped children and those with learning difficulties . We have previously reported that children faced with stressful life events have a higher tendency to develop AP .…”