Sleep apnoea in the Prader‐Willi syndrome

Abstract

Seventeen children and young adults with the Prader-Willi syndrome were investigated. Twelve of 17 subjects had excessive daytime sleepiness as determined by their own or parental report, a high Epworth Sleepiness Scale score or a short mean sleep latency. Night sleep disturbances were reported in seven subjects with snoring, mouth-breathing, breath-holding and occasional nocturnal enuresis. Polysomnography showed abnormalities of sleep structure with rapid eye movements without reduction in muscle tone at sleep onset in 12 subjects, and a high respiratory event index with frequent brief apnoeas, particularly in REM sleep, in 16 subjects. Most apnoeas were not accompanied by arousals. Seven subjects, all of whom were obese, were considered to have symptomatic sleep apnoea and were treated with continuous positive airway pressure (CPAP) but this was poorly tolerated in two. Five subjects continued CPAP over a 6-month period resulting in subjective improvement in excessive daytime sleepiness in 3. Excessive daytime sleepiness occurs in approximately two-thirds of subjects with the Prader-Willi syndrome. It is mainly of central origin but obstructive sleep apnoea may increase sleepiness, particularly in obese subjects.

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

“…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).…”

“…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).…”

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

“…The second intervention is to treat the source of sleep disruption; CPAP is needed for OSA or intermittent hypoxemia. However, cases where the treatment of SRBD in PWS does not alleviate daytime sleepiness [28][29][30][31][32] , further reinforce the hypothesis that SRBD alone cannot account for the presence of daytime sleepiness in this population. Then, the daytime use of stimulant medication (methylphenidate) and/ or modafinil are recommended.…”

Efficacy of modafinil on excessive daytime sleepiness in Prader–Willi syndrome

“…None had hypnagogic hallucinations or sleep paralysis. These narcoleptictype symptoms had rarely been reported [Cassidy et al, 1990;Clift et al, 1994].…”