Prader Willi Syndrome

Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. Children with Prader–Willi syndrome (PWS) have weak muscle tone or hypotonia, feeding difficulties, poor growth, and delayed development. Sleep problems are very frequent in children with Prader–Willi syndrome (PWS). Most children with Prader–Willi syndrome (PWS) develop craving for food, thus developing obesity.

What type of sleep problems are seen in children with Prader–Willi syndrome (PWS)?
Children with Prader–Willi syndrome (PWS) can have various types of sleep related problems. Young infants with Prader–Willi syndrome (PWS) have central apneas (episodes where the brain fails to send signals for breathing).

Older children with Prader–Willi syndrome (PWS) have obstructive sleep apneas (OSA). The causes include obesity, low muscle tone, small lower jaw, and viscous secretions.

Some children with Prader–Willi syndrome (PWS) can have excessive daytime sleepiness and cataplexy.

How do we evaluate sleep problems in children with Prader–Willi syndrome (PWS)?
Children with Prader–Willi syndrome (PWS) have frequent sleep related problems. In addition, children may not report any symptoms. This leads to delay in the diagnosis leading to complications of sleep apnea and poor quality of life. Hence, regular evaluation by a pediatric pulmonologist or sleep specialist is important.

For proper diagnosis of sleep related problems children with Prader–Willi syndrome (PWS) require a sleep study or polysomnography. This helps in identification, the type and also the severity of the sleep problem. Children with Prader–Willi syndrome (PWS) having excessive daytime sleepiness require a Multiple Sleep Latency Test (MSLT) for diagnosis of narcolepsy. Sleep studies are mandatory before considering growth hormone therapy in children with Prader–Willi syndrome (PWS).

The details regarding sleep studies in children can be found under the section of sleep studies. We at BLK Max hospital have a complete team of specialists including paediatric pulmonologist, sleep specialist and pediatric endocrinologist. Facilities for sleep study or polysomnography are available.