Individuals with genetic syndromes might experience settling problems (taking a long time to fall asleep), waking during the night, early morning waking, and subsequent reduced sleep duration and possible daytime sleepiness, or any combination of these problems.

Individuals with certain syndromes such as Smith-Magenis syndrome are reported to have a distinctive sleep pattern; an inverted circadian rhythm where their release of melatonin which induces the body’s response for sleep is shifted so that its concentration peaks during the daytime as opposed to in the evening.  We know that children are likely experience daytime sleepiness and early morning waking as a result of their circadian rhythm.

Sleep problems may be attributed to a range of factors.  Internal, physiological factors; such as abnormal timing of melatonin release or reduced secretion of melatonin is hypothesised as a possible factor in children with Angelman syndrome, but further research is needed to clarify the patterns of melatonin secretion in children with Angelman syndrome and other genetic syndromes.

Other possible factors include oversensitivity to the environment, such as light and noise, and behavioural issues such a learned association between falling asleep and parental presence.

It is important to consider the nature and combination of sleep difficulties experienced by children with different genetic syndromes to consider how these sleep difficulties might fit the criteria for different sleep disorder diagnoses.

Classifying sleep difficulties according to a standardised criteria of behavioural and circadian rhythm disorders permits researchers and clinicians to better consider the underlying cause of sleep difficulties in children with genetic syndromes.  Investigating sleep quality across children with genetic syndromes will enable researchers to consider to what extent specific sleep disorders can be considered to be related to the diagnosis of a particular genetic syndrome.

We hope that through research we can move towards understanding how sleep is associated with all aspects of children’s functioning and daytime behaviour, and how the development of interventions to address sleep might help to reduce behavioural difficulties and increase an individual’s day to day functioning.

There are a number of behavioural and pharmacological interventions to support sleep in children with genetic syndromes.

Commonly used strategies include:

• Ensuring that children’s bedrooms are comfortable and conductive to sleep and free of stimulation and excessive light and noise.
• Minimising the amount of attention given when the child wakes at night.
• Gradually adjusting the child’s bedtime to ensure that the bedtime coincides with when the child is tired.

For further information on sleep strategies, please visit Cerebra’s sleep service.