Welcome to the first episode of Research to Reality in Rare Syndromes, a podcast for families caring for children with rare genetic syndromes and neurodivergent children.

In this episode, Dr Marie Dunnion is joined by Professor Caroline Richards and Dr Rory O’Sullivan from the University of Birmingham to talk about their sleep research and share practical insights to help support your child’s sleep. Caroline has published extensively on sleep in children with rare syndromes such as Angelman syndrome, Smith-Magenis syndrome, and tuberous sclerosis complex, while Rory’s PhD explored how sleep affects children’s cognition and daytime behaviours.

See below for links to resources, charities, support services, and related research:

Resources

• Cerebra: FLACC Pain Scale Infographic
• Cerebra: Get Your FREE Sleep Tips Booklet
• Cerebra: Sleep Advice Service
• Cerebra: Sleep - A Guide for Parents
• Cerebra: Sleep Cards
• Cerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.
• My Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.

Charities and Support Services

• Contact: the charity for families with disabled children
• Mencap
• Scope | Disability charity UK
• SMS Foundation UK: supporting SMS families for a positive future
• SMS Foundation UK: join our Community – join to become a family, or professional, member of The SMS Foundation UK.
• SWAN UK (Syndromes Without A Name) - Genetic Alliance
• Unique | Understanding Rare Chromosome and Gene Disorders

Research

• RESEARCH | Cerebra Network – there are a number of projects happening across the network.
• A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex | Journal of Neurodevelopmental Disorders | Full Text
• Developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study | SLEEP Advances | Oxford Academic
• Frontiers | Multi-method assessment of sleep in children with Angelman syndrome: a case–controlled study
• Sleep in children with Smith–Magenis syndrome: a case–control actigraphy study | SLEEP | Oxford Academic

Related Article

• Zeitgebers (time cues) for biological clocks

For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network