Sleep Apnea in Patients With Rett Syndrome

Bassett, Ethan; Heinle, Robert A.; Johnston, Douglas R.

doi:10.1177/0883073816671439

Cited by 14 publications

(1 citation statement)

References 8 publications

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“…Importantly, breathing dysfunctions occur during periods of wakefulness and sleep, with cessation of breathing during awake states not necessarily apnoeas [ 37 , 247 , 248 ], but prolonged breath-holds [ 37 , 240 , 246 , 248 ] that more closely resembling Valsalva manoeuvres [ 37 ]. By contrast, during sleep, obstructive sleep apnoeas are more prevalent [ 245 , 249 , 250 , 251 , 252 , 253 , 254 ]. It is not currently known as to whether the intensity of the Valsalva-like activation of the diaphragm muscle mirrors the maximum magnitudes of pressure generation observed in adults [ 37 ], which exhibit transdiaphragmatic pressures ~10 times that of eupnoea [ 10 , 255 , 256 , 257 ], but if it is of sufficient magnitude, it may indicate that activation of type S, type FR and type FF motor units is altered in an arousal- dependent manner in Rett syndrome.…”

Section: Inhibitory Influences On Rett Syndromementioning

confidence: 99%

Inhibitory Synaptic Influences on Developmental Motor Disorders

Fogarty

2023

IJMS

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During development, GABA and glycine play major trophic and synaptic roles in the establishment of the neuromotor system. In this review, we summarise the formation, function and maturation of GABAergic and glycinergic synapses within neuromotor circuits during development. We take special care to discuss the differences in limb and respiratory neuromotor control. We then investigate the influences that GABAergic and glycinergic neurotransmission has on two major developmental neuromotor disorders: Rett syndrome and spastic cerebral palsy. We present these two syndromes in order to contrast the approaches to disease mechanism and therapy. While both conditions have motor dysfunctions at their core, one condition Rett syndrome, despite having myriad symptoms, has scientists focused on the breathing abnormalities and their alleviation—to great clinical advances. By contrast, cerebral palsy remains a scientific quagmire or poor definitions, no widely adopted model and a lack of therapeutic focus. We conclude that the sheer abundance of diversity of inhibitory neurotransmitter targets should provide hope for intractable conditions, particularly those that exhibit broad spectra of dysfunction—such as spastic cerebral palsy and Rett syndrome.

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Section: Inhibitory Influences On Rett Syndromementioning

confidence: 99%

Inhibitory Synaptic Influences on Developmental Motor Disorders

Fogarty

2023

IJMS

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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Cacciatori

Lelii

Russo

et al. 2020

American J of Med Genetics Pt A

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Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal-onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today little is known about polysomnographic features in RTT females; no data are available about males. We report the case of a male of Moroccan origins with a MECP2 pathogenic variant and a history of encephalopathy and severe breathing disturbances in the absence of dysmorphic features. For the first time we describe in detail the polysomnographic characteristics of a MECP2-mutated male and we show the relevance of severe central apneas, which may represent a new clinical clue to suggest the diagnosis. Moreover, we want to highlight the importance to maintain a high index of suspicion for MECP2-related disorders in the presence of severe hypotonia, apneic crises, and respiratory insufficiency in males to permit an earlier diagnosis and the consequent definition of recurrence risk of the family and to avoid other useless and invasive exams.

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