Disturbances in Cardiorespiratory Function During Day and Night in Rett Syndrome

Rohdin, Malin; Fernell, Elisabeth; Eriksson, Maud; Albåge, Margareta; Lagercrantz, Hugo; Katz‐Salamon, Miriam

doi:10.1016/j.pediatrneurol.2007.06.009

Cited by 69 publications

(73 citation statements)

References 22 publications

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“…Three cardiorespiratory phenotypes are described, each demanding a specific approach [Julu et al, 2008]. There are also emerging data demonstrating sleep disorder and nighttime autonomic dysregulation [Weese-Mayer et al, 2006;Rohdin et al, 2007;Lioy et al, 2011].…”

Section: Clinical Managmentmentioning

confidence: 99%

Rett Syndrome

2011

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Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.

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Section: Clinical Managmentmentioning

confidence: 99%

Rett Syndrome

2011

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“…Sleep disruption is common in RTT patients (Glaze et al, 1987;Nomura, 2005;Young et al, 2007) with nighttime autonomic dysfunction also being reported later in the disease progression (Rohdin et al, 2007;Weese-Mayer et al, 2008). At least some of these sleep symptoms are disruptions in timing with RTT patients reporting difficulty sleeping at night and staying awake during the day, raising the possibility of an underlying circadian deficit.…”

mentioning

confidence: 99%

Circadian rhythm disruption in a mouse model of Rett syndrome circadian disruption in RTT

Loh

Kudo

et al. 2015

Neurobiology of Disease

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“…Early studies suggested that the breathing abnormalities occurred only during wakefulness (Julu et al, 2001; Marcus et al, 1994), which is not supported by more recent studies showing no difference between sleep and wake states (Rohdin et al, 2007). There is even evidence for the occurrence of apnea only during sleep (d'Orsi et al, 2009).…”

Section: Brainstem Neurons With Respiratory Rhythmmentioning

confidence: 92%

Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder

Jiang

Cui

Zhong

et al. 2017

Respiratory Physiology & Neurobiology

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A characteristic feature of Rett syndrome (RTT) is abnormal breathing accompanied by several other neurological and cognitive disorders. Since RTT rodent models became available, studies have begun shedding insight into the breathing abnormalities at behavioral, cellular and molecular levels. Defects are found in several groups of brainstem neurons involved in respiratory control, and potential neural mechanisms have been suggested. The findings in animal models are helpful in therapeutic strategies for people with RTT with respect to lowering sudden and unexpected death, preventing secondary developmental consequences, and improving the quality of lives.

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Disturbances in Cardiorespiratory Function During Day and Night in Rett Syndrome

Cited by 69 publications

References 22 publications

Rett Syndrome

Rett Syndrome

Circadian rhythm disruption in a mouse model of Rett syndrome circadian disruption in RTT

Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder

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