Research to Reality in Rare Syndromes

In this fifth episode, Dr Marie Dunnion invites Cerebra Network Leads, Dr Jane Waite and Dr Hayley Crawford, to talk about their mental health research.Jane, a clinical psychologist and researcher at Aston University, and Hayley, an Associate Professor at the University of Warwick, both specialise in rare genetic syndromes and understanding the development of mental health conditions in people with intellectual disabilities and neurodevelopmental conditions. In this episode, they discuss mental health and anxiety and share practical tools and interventions to support families. Jane has also made the Cerebra Network’s research more accessible for parent carers and clinicians through the FIND website: https://findresources.co.uk/See below for links to resources, charities, support services, and related research:Cerebra Network WebsitesCerebra Network Website – a UK-wide research team dedicated to improving the lives of people with neurodevelopmental conditions and rare genetic syndromes.Further Inform Neurogenetic Conditions (FIND) WebsiteCharities and Support ServicesAffinity Hub – supporting parents of disabled children and adults and signposting to professional support.Autistica - the UK’s leading autism research and campaigning charityCerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.ResearchDivergent presentation of anxiety in high-risk groups within the intellectual disability populationPrevalence of anxiety symptomatology and diagnosis in syndromic intellectual disability: a systematic review and meta-analysisDiverse profiles of anxiety related disorders in fragile X, Cornelia de Lange and Rubinstein–Taybi syndromesUtilising interview methodology to inform the development of new clinical assessment tools for anxiety in autistic individuals who speak few or no words A systematic review of the behaviours associated with depression in people with severe-profound intellectual disabilityDevelopment and psychometric properties of the Clinical Anxiety Scale for People with Intellectual Disabilities (ClASP-ID)Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes – cortisol/behaviour study.Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome – eye-tracking study.A behavioural assessment of social anxiety and social motivation in fragile X, Cornelia de Lange and Rubinstein-Taybi syndromesAnxiety in autistic individuals who speak few or no words: a qualitative study of parental experience and anxiety managementResourcesAnxiety guide for autistic individuals who speak few or no words: Anxiety in autistic children with learning disabilities: A guide Cerebra Parent Carer Guide: AnxietyCLASP-ID Manual Request FormMy Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network 

In this episode of Research to Reality in Rare Syndromes, we focus on Behaviours that Challenge (BtC) and introduce the i-KNOW (Identifying & Knowing about Behaviour) Project, a psycho-educational course designed to help parents better understand BtC.Dr Marie Dunnion  speaks with Lauren Gregory, a Research Assistant at the University of Birmingham, and Denise Bain, a Speech and Language Therapist. They share how the project started, its goals, and the ways it has helped improve outcomes for children with BtC and their families.See below for links to resources, charities, support services, and related research:i-KNOW ProjectI-KNOW ProjectResourcesCerebra Parent Carer Guide: Looking after your own wellbeing as a parent/carer of a child with a brain conditionCerebra Parent Carer Guide: Managing challenging behaviourCerebra Parent Carer Guide: Self-injury in children with intellectual disabilityMy Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.Charities and Support ServicesCerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.The Challenging Behaviour Foundation – for children, young people and adults with severe learning disabilities whose behaviour might be described as challenging, and their families.Research RESEARCH | Cerebra Network – there are a number of projects happening across the networkThe Development and Validation of Models of Risk for Behaviours That Challenge in Children With Developmental Disabilities: A Novel Machine Learning ApproachFor any enquiries, please complete the contact form on our website: CONTACT | Cerebra NetworkFunders:This research was funded by the British Academy of Childhood Disability-Castang Foundation, the European Research Council (ERC) under the Horizon 2020 Framework Programme, Cerebra Charity and The Baily Thomas Charitable Fund.For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network

In this episode, Dr Marie Dunnion talks to Dr Stacey Bissell and Dr Kelly Wade about their research at the University of Birmingham, focusing on children with rare genetic syndromes and their families.Stacey and Kelly discuss how sleep, pain, and mental health issues can affect children’s behaviour – including Behaviours that Challenge (BtC) – and impact family life. They also share insights into how poor sleep can increase the likelihood of self-injury, aggression, and emotional outbursts, and explain how pain can influence behaviour. The conversation also offers practical advice on supporting children’s communication around pain.See below for links to resources, charities, support services, and related research:ResourcesCerebra: Get Your FREE Sleep Tips BookletCerebra: Sleep Advice Service Cerebra: Sleep - A Guide for ParentsCerebra: Sleep CardsCerebra Parent Carer Guide: Cognitive Difference: Cognitive Inflexibility and ImpulsivityCerebra Parent Carer Guide: Emotional Outbursts Cerebra: FLACC Pain Scale InfographicCerebra Parent Carer Guide: Managing challenging behaviour Cerebra Parent Carer Guide: Mental Health in Children with Rare Genetic Conditions Cerebra Parent Carer Guide: PainCerebra Parent Carer Guide: Self-injury in children with intellectual disabilityMy Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.Charities and Support ServicesCerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.The Challenging Behaviour Foundation – for children, young people and adults with severe learning disabilities whose behaviour might be described as challenging, and their families.Sibs – for brothers and sisters of disabled children and adults.SMS Foundation UK – supporting SMS families for a positive future.Unique - understanding rare chromosome and gene disorders.ResearchRESEARCH | Cerebra Network – there are a number of projects happening across the network.Distress and challenging behavior in people with profound or severe intellectual disability and complex needs: Assessment of causes and evaluation of intervention outcomesBehaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property DestructionThe Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk MarkersKate Eden, et al.’s study: Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markersFollow-up study by Wilde, et al.: Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complexFunders: The Objective Actigraphy Study in Sleep of Children with Intellectual Disability and their Siblings (OASIS) Project was funded by The Baily Thomas Charitable Fund.For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network

In our second episode, we return to the University of Birmingham’s sleep research to explore the sleep issues experienced by children with rare genetic syndromes and their families.Dr Marie Dunnion is joined by Dr Rory O’Sullivan and parent carer, Leeann Stevenson. Leeann is a parent carer of a child with Smith-Magenis Syndrome (SMS) and also Executive Director of the Smith Magenis Syndrome Foundation. She shares what it can be like when a child has severe sleep difficulties and the strategies that helped her family manage these challenges.See below for links to resources, charities, support services, and related research:Resources Cerebra: Get Your FREE Sleep Tips BookletCerebra: Sleep Advice Service Cerebra: Sleep - A Guide for ParentsCerebra: Sleep CardsCerebra 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 ServicesContact: the charity for families with disabled childrenMencapScope | Disability charity UKSMS 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 AllianceUnique | Understanding Rare Chromosome and Gene Disorders Facebook PagesSmith-Magenis Syndrome Foundation UK Facebook PageCerebra Network Facebook Page                          ResearchCaregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods studyRESEARCH | Cerebra Network – there are a number of projects happening across the network.The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up studyFor any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network

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:ResourcesCerebra: FLACC Pain Scale Infographic Cerebra: Get Your FREE Sleep Tips BookletCerebra: Sleep Advice Service Cerebra: Sleep - A Guide for ParentsCerebra: Sleep CardsCerebra 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 childrenMencapScope | Disability charity UKSMS 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 AllianceUnique | Understanding Rare Chromosome and Gene DisordersResearchRESEARCH | 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 TextDevelopmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study | SLEEP Advances | Oxford AcademicFrontiers | Multi-method assessment of sleep in children with Angelman syndrome: a case–controlled studySleep in children with Smith–Magenis syndrome: a case–control actigraphy study | SLEEP | Oxford AcademicRelated ArticleZeitgebers (time cues) for biological clocksFor any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network