Sleep assessments of patients with Down syndrome were retrospectively reviewed. Familial restless legs syndrome was clinically diagnosed with: (a) an extended sleep/wake-behaviour assessment of the patients/parents, and (b) a ‘Suggested Clinical Immobilization Test’ (SCIT; Ipsiroglu et al., 2016) was applied to patients/parents. Clinical presentations and symptoms were (a) captured in reports using the descriptions, (b) quality controlled by parents and therapists [therapeutic emplotment; Ipsiroglu et al., 2013]. Results show that 60% of the patients showed a positive informal SCIT; a formal SCIT could not be applied in any patient with Down syndrome. 52% had a positive familial sleep history, and all patients experienced non-restorative sleep, resulting in daytime sleepiness in 80%.
Our current understanding is that restless legs syndrome plays a core role in sleep problems of individuals with Down syndrome in addition to sleep disordered breathing. However, due to non-restorative sleep and chronic sleep deprivation, the typical symptoms of restless legs syndrome (i.e., challenges with falling asleep symptoms) may be hidden. Structured behavioural observations during the informal SCIT support diagnosis of restless legs syndrome and open up new treatment options for challenging/disruptive daytime behaviours and non-restorative sleep.

Achievements: Based on clinical practice and series of in-depth clinical history taking we described in this case series for the first time the possibility of restless legs syndrome as a cause of disruptive nighttime behaviours.

Project Lead: Osman Ipsiroglu

Research Assistants: Melvin Chan (lead), Alexandra Wagner, Nadia Beyzaei, Mai Berger

Funding: BC Children's Hospital Foundation / Children Sleep Network (PI: Osman S. Ipsiroglu)

Acknowledgements: Ms. Karen Derry (Sunny Hill Health Centre for Children, BC Children’s Hospital); Ms. Susan Fawcett (Down Syndrome Research Foundation)