Abstract
Background
Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like
behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system
has been postulated to play a role in the pathophysiology of these symptoms.
Patient Description
We present an 11-year-old girl with Rett syndrome who exhibited marked respiratory
symptoms, including frequent apneic events during sleep. She had been treated for
these respiratory symptoms using noninvasive positive pressure ventilation since age
six years. Treatment with serotonin 1A receptor agonist was initiated at age eight
years, whereas treatment using a selective serotonin reuptake inhibitor began at age
nine years. Noninvasive positive pressure ventilation therapy was effective in reducing
symptoms of sleep apnea, and administration of serotonergic agents resulted in amelioration
of sleep apneic events even in the absence of noninvasive positive pressure ventilation.
In addition, improvements in hand stereotypy and social skills were observed after
initiation of serotonin-based therapy.
Discussion
The respiratory difficulties our patient experienced during non-rapid eye movement
(REM) sleep are characteristic of post-sigh central apnea. Exaggerated activity of
expiratory neurons during such apneic events has been observed in mouse models of
Rett syndrome. We suggest that prescribed serotonergic agents might serve to inhibit
such activity, attenuating the imbalance between inspiratory and expiratory neurons.
These agents might also be useful in the treatment of autistic-like behaviors caused
by impaired serotonergic transmission in the brain.
Keywords
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Article info
Publication history
Published online: April 01, 2016
Accepted:
March 26,
2016
Received:
February 3,
2016
Footnotes
Conflicts of interest: none.
Identification
Copyright
© 2016 Elsevier Inc. All rights reserved.
