Greater support needed around sleep for children with rare genetic conditions, Cardiff University study finds

Researchers at Cardiff University have identified a link between sleep and mental health in children with rare neurodevelopmental genetic conditions.

In a new study by researchers at the Centre for Neuropsychiatric Genetics and Genomics at Cardiff University, the relationship between sleep and mental health has been investigated in children with very high genetic vulnerability.

Sleep is an essential part of human life, and it plays a vital role in our overall physical and mental health, and a lack of sleep can have serious consequences for our mental health.

Dr Sam Chawner, who worked on the study, explained: “Sleep plays a crucial role in regulating our mood and emotions. Lack of sleep can lead to irritability, mood swings, and even depression. Conversely, getting a good night's sleep can help us feel more positive and energized, and can even improve our overall sense of well-being. The relationship between sleep and mental health is complex and multifaceted, with sleep influencing mental health and vice versa.

“The children who participated in this study have a range of rare genetic conditions caused by copy number variants, where a segment of DNA is missing, also known as a deletion, which put them at increased likelihood of neurodevelopmental and mental health outcomes. The study found these children had a high rate of sleep problems, and 41% met criteria for insomnia. This emphasises the need for greater support for the sleep health of children with rare genetic conditions.”

Genetic research has proved a useful tool for investigating the relationship between sleep and mental health. By examining the genetic basis of sleep and mental health disorders, researchers have been able to identify genetic risk factors and potential targets for interventions which has implications for the treatment and prevention of these conditions.

For example, researchers have identified genetic variants that are associated with differences in sleep duration, as well as variations in the timing and intensity of sleep. These genetic variations may contribute to the development of sleep disorders such as insomnia and sleep apnoea.

Professor Marianne van den Bree, study lead, explains “We found that sleep problems often started at a very young age in child development, with parents reporting their child’s sleep problems first appearing on average at age 2.8 years old. This suggests that if clinicians act early there may be opportunity for early intervention in this at-risk group of children.”

The study also found that children who had more sleep problems were also more likely to experience greater mental health problems. However, it should be emphasised that sleep problems were not deterministic, not all children with sleep problems developed mental health problems.

“These findings mean that helping sleep problems could also help mental health, but future research would be needed to investigate this. However, findings from this study do indicate the potential for early intervention strategies for mental health informed by sleep profile,” continued Dr Chawner.

The authors would like to thank all the children and families who took part in the IMAGINE-ID study, as well as all the support we have had from NHS medical genetic clinics, and support charities, including Unique and Max Appeal.

Read the full paper: Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions