Aerophagia due to abdomino-phrenic dyssynergia in a 2-year-old child

Ercoli, Pablo; García, B Torres; Campo, E; Pinillos, S.

doi:10.17235/reed.2018.5444/2017

Cited by 2 publications

(2 citation statements)

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“…A disruption of this process might cause aerophagia. Aerophagia is also observed in humans where it is frequently assigned to abdomino-phrenic dyssynergia, a condition characterized by a deficit in abdominal and diaphragm muscle coordination (Dike et al, 2017; Ercoli et al, 2018; Villoria et al, 2011). We, therefore, propose that the phrenic dysfunction is responsible for breathing deficits and also contributes to the aerophagia.…”

Section: Discussionmentioning

confidence: 99%

Teashirt1 (Tshz1) is essential for the development, survival and function of hypoglossal and phrenic motor neurons

et al. 2019

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Feeding and breathing are essential motor functions and rely on the activity of hypoglossal and phrenic motor neurons that innervate the tongue and diaphragm, respectively. Little is known about the genetic programs that control the development of these neuronal subtypes. The transcription factor Tshz1 is strongly and persistently expressed in developing hypoglossal and phrenic motor neurons. We used conditional mutation of Tshz1 in the progenitor zone of motor neurons (Tshz1MNΔ) to show that Tshz1 is essential for survival and function of hypoglossal and phrenic motor neurons. Hypoglossal and phrenic motor neurons are born in correct numbers, but many die between embryonic day 13.5 and 14.5 in Tshz1MNΔ mutant mice. In addition, innervation and electrophysiological properties of phrenic and hypoglossal motor neurons are altered. Severe feeding and breathing problems accompany this developmental deficit. Although motor neuron survival can be rescued by elimination of the pro-apoptotic factor Bax, innervation, feeding and breathing defects persist in Bax−/−; Tshz1MNΔ mutants. We conclude that Tshz1 is an essential transcription factor for the development and physiological function of phrenic and hypoglossal motor neurons.

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Section: Discussionmentioning

confidence: 99%

Teashirt1 (Tshz1) is essential for the development, survival and function of hypoglossal and phrenic motor neurons

et al. 2019

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“…Certain patients, however, have isolated bloating and/or distension. APD has also been documented in pediatric patients, usually in association with aerophagia ( 14 , 15 ).These patients have functional bloating and distension as defined by the Rome IV criteria (Table 2 ) ( 16 ).…”

Section: Introductionmentioning

confidence: 99%

Abdominophrenic Dyssynergia: A Narrative Review

et al. 2022

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Chronic bloating and abdominal distension are common and highly bothersome gastrointestinal symptoms. Although the differential diagnoses for bloating and distension are broad, these symptoms are frequently associated with disorders of the gut-brain interaction. Functional abdominal bloating may be a result of visceral hypersensitivity, whereas abdominal distension seems to be a somatic behavioral response associated with abdominophrenic dyssynergia, featuring diaphragmatic contraction and abdominal wall relaxation. We review the available literature regarding abdominophrenic dyssynergia and comment on its epidemiology, diagnosis, treatment, and avenues to address in the near future.

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Aerophagia due to abdomino-phrenic dyssynergia in a 2-year-old child

Cited by 2 publications

References 4 publications

Teashirt1 (Tshz1) is essential for the development, survival and function of hypoglossal and phrenic motor neurons

Teashirt1 (Tshz1) is essential for the development, survival and function of hypoglossal and phrenic motor neurons

Abdominophrenic Dyssynergia: A Narrative Review

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