Rett syndrome is a progressive condition that affects girls almost exclusively. It is caused by a deficiency in functional MECP2 protein responsible for the proper relay of messages from the brain to the rest of the body. Mutations in the gene that encodes for MECP2 are the cause of this deficiency, although mutations in other genes also have been reported as a cause of Rett syndrome.
Sleep issues are common in children with Rett syndrome, observed in about 80% of patients, and are one of the leading problems in addition to behavioral, physical, and developmental issues and motor and language skills. The prevalence of sleep problems usually decreases with age.
Link between Rett mutation type and sleep problems
According to one study, the severity of sleep problems varies based on the type of genetic changes causing Rett syndrome. The most severe sleep problems have been observed in patients with large deletions in the MECP2 gene followed by those with so-called p.R294X or p.R306C mutations. Fewer sleep issues were reported in Rett syndrome patients with p.T158M, p.R255X, or p.R270X mutations.
Types of sleep problems
Rett syndrome patients may experience several types of sleep problems. These are:
- Delayed sleep onset
- Problems staying asleep
- Early morning awakening
- Daytime naps
- Night laughing
- Night screaming
- Sleepwalking and talking
- Night seizures
- Night terrors
- Teeth grinding at night
- Obstructive sleep apnea
- Sleep apnea-hypopnea syndrome
Diagnosis of sleep problems
The doctor will assess the patient’s sleep history to identify any change in sleep characteristics such as unusual night spells, difficulty falling asleep or awakening multiple times, and breathing problems during sleep.
The parents or caregivers of a Rett syndrome patient will be asked to keep a sleep diary for the child to monitor their sleep pattern. The diary will carry a record about time spent in bed, time spent out of bed, arousal times, bedtime routine, and sleep environment. It can provide a clear picture of the patient’s sleeping pattern and identify any issues.
A validated questionnaire called BEARS also may help identify sleep problems in children with Rett syndrome. It covers five main areas: bedtime problems, excessive daytime sleepiness, awakening during the night, sleep duration and regularity, and snoring.
If the doctor suspects breathing issues, a sleep study (polysomnography) may be recommended to diagnose obstructive sleep apnea or sleep apnea-hypopnea.
Management of sleep problems
Behavioral therapy often is used in the management of sleep problems in Rett patients and some medications also may help.
Some behavioral therapy approaches are:
- Scheduled awakenings
- Extinction (periods of unresponsiveness by parents to unaccepted behavior such as screaming or crying by the child during sleeping hours)
- Massage therapy that can help in relaxation
- Educating parents about sleep issues and what to expect
Although there is no approved medication for sleep issues in children with Rett syndrome, very low concentrations of anti-insomnia medications like Ambien (zolpidem), high blood pressure medicine such as clonidine, sedatives and anti-depressants such as trazodone, and the hormone melatonin may be beneficial.
Sleep hygiene is defined as a set of measures that can help with good nighttime sleep quality and full daytime alertness. Following are some suggestions for parents of children with Rett syndrome:
- Maintaining a sleep schedule with regular bedtimes and nap times
- Using the bed only to sleep at night
- Light meal at dinnertime
- A night routine to acclimate children
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