Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors

Manni, Raffaele; Politini, Lucia; Nobili, Lino; Ferrillo, Franco; Livieri, C.; Veneselli, Edvige; Biancheri, Roberta; Martinetti, M.; Tártara, A

doi:10.1016/s1388-2457(01)00483-7

Cited by 113 publications

(79 citation statements)

References 23 publications

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“…Abnormal ventilatory responses to hyperoxia, hypoxia, and hypercapnia when awake and sleeping are noted in PWS patients Gozal et al, 1994;Schluter et al, 1997;Menendez, 1999). Furthermore, there are reports of sleep-related central and obstructive apnea (Clift et al, 1994;Wharton and Loechner, 1996;Manni et al, 2001;Nixon and Brouillette, 2002). A report of a 29 week premature infant with PWS who required prolonged ventilatory support points to a prenatal onset of respiratory dysfunction in PWS (MacDonald and Camp, 2001).…”

Section: Discussionmentioning

confidence: 99%

“…The major manifestations of PWS include neonatal hypotonia and failure to thrive, followed by childhood-onset developmental delay and obesity. Infants with PWS have significant respiratory abnormalities, including sleep-related central and obstructive apneas and reduced response to changes in oxygen and CO 2 levels Clift et al, 1994;Gozal et al, 1994;Wharton and Loechner, 1996;Schluter et al, 1997;Menendez, 1999;Manni et al, 2001;Nixon and Brouillette, 2002). A subset of genes in the region deleted in PWS, including the NDN gene encoding necdin, are active only on the paternally inherited allele and silenced by imprinting on the maternal allele (Nicholls, 2000).…”

Section: Introductionmentioning

confidence: 99%

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Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

et al. 2003

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necdin (Ndn) is one of a cluster of genes deleted in the neurodevelopmental disorder Prader-Willi syndrome. necdin is upregulated during neuronal differentiation and is thought to play a role in cell cycle arrest in terminally differentiated neurons. Most necdin-deficient Ndn tm2Stw mutant pups carrying a targeted replacement of Ndn with a lacZ reporter gene die in the neonatal period of apparent respiratory insufficiency. We now demonstrate that the defect can be explained by abnormal neuronal activity within the putative respiratory rhythm-generating center, the pre-Bötzinger complex. Specifically, the rhythm is unstable with prolonged periods of depression of respiratory rhythmogenesis. These observations suggest that the developing respiratory center is particularly sensitive to loss of necdin activity and may reflect abnormalities of respiratory rhythm-generating neurons or conditioning neuromodulatory drive. We propose that necdin deficiency may contribute to observed respiratory abnormalities in individuals with Prader-Willi syndrome through a similar suppression of central respiratory drive.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

et al. 2003

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“…Hiroi et al (2000) observed prolonged inactive periods and shortened active periods in a fetus subsequently diagnosed with PWS. Hypersomnolence remains a general feature of PWS at all ages (Vela-Bueno et al, 1984;Clarke et al, 1989;Vgontzas et al, 1996;Manni et al, 2001). By contrast, reduced sleep with frequent waking is a feature of Angelman syndrome (Magenis et al, 1990;Clayton-Smith, 1993).…”

Section: Activity Levels and Energy Expenditurementioning

confidence: 99%

Prader‐Willi syndrome and the evolution of human childhood

Haig

Wharton

2003

American J Hum Biol

150

112

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The kinship theory of genomic imprinting predicts that imprinted genes have effects on asymmetric kin (relatives with different degrees of matrilineal and patrilineal relatedness). The most important interaction with such a relative is a child's interaction with its mother. Therefore, the study of imprinted genes and their phenotypic effects promises to provide insights into the evolution of mother-child relations. Prader-Willi syndrome (PWS) is caused by the absence of expression of genes at 15q11-q13 that are normally expressed only when paternally derived. The kinship theory predicts that children with PWS will fail to express behaviors that have increased mothers' costs of child-rearing. Our analysis focuses on aspects of the PWS phenotype that affect appetite and feeding. Immediately after birth, children with PWS have little appetite and are usually unable to suckle, but at some stage (usually within the first 2 years) they develop a voracious appetite and an obsession with food. We conjecture that this change in appetite reflects evolutionary forces associated with weaning. Immediately after birth, when a child is completely dependent on the breast, poor appetite reduced maternal costs. However, once a child was able to consume supplemental foods, maternal costs would have been reduced by children with increased, nonfastidious appetites.

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“…Sleep problems occur frequently among individuals with PWS. Because of the development of obesity, craniofacial dysmorphism and muscular hypotonia, patients with PWS are at a risk of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome 2) . The most common problem is excessive daytime sleepiness (EDS).…”

Section: Introductionmentioning

confidence: 99%

How to Understand Sleep and Sleep Problems in Patients with Prader-Willi Syndrome?

Joo

2015

Journal of mucopolysaccharidosis and rare disease

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Sleep problems occur frequently among patients with Prader-Willi syndrome (PWS). The most common problem is excessive daytime sleepiness (EDS) that are closely related to of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome. Obesity, craniofacial dysmorphism and muscular hypotonia of patients with PWS may increase the risk of SRBD. Sleep apneas can interrupt the continuity of sleep, and these disruptions result in a decrease in both the quality and quantity of sleep. In addition to SRBD, other sleep disorders have been reported, such as hypersomnia, a primary abnormality of the rapid eye movement (REM) sleep and narcolepsy traits at sleep onset REM sleep. Patients with PWS have intrinsic abnormalities of sleep-wake cycles due to hypothalamic dysfunction. The treatment of EDS and other sleep disorders in PWS are similar to standard treatments. Correction of sleep hygiene such as sufficient amount of sleep, maintenance of regular sleep-wake rhythm, and planned naps are important. After comprehensive evaluation of sleep disturbances, CPAP or surgery should be recommended for treatment of SRBD. Remaining EDS or narcolepsy-like syndrome are controlled by stimulant medication. Bright light therapy might be beneficial for disturbed circadian sleep-wake rhythm caused by hypothalamic dysfunction.

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Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors

Cited by 113 publications

References 23 publications

Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

Absence ofNdn, Encoding the Prader-Willi Syndrome-Deleted Genenecdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice

Prader‐Willi syndrome and the evolution of human childhood

How to Understand Sleep and Sleep Problems in Patients with Prader-Willi Syndrome?

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