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Research to Reality in Rare Syndromes

Research to Reality in Rare Syndromes

De : Cerebra Network
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The Cerebra Network are excited to launch Research to Reality in Rare Syndromes. This new podcast series brings researchers, professionals and parent carers together to discuss the challenges, evidence, and practical solutions that can make a real difference to families' lives.

© 2026 Research to Reality in Rare Syndromes Art
Épisodes
  • Episode 8: Behind the Appointment: Supporting Parent Carers’ Wellbeing in primary care

    Episode 8: Behind the Appointment: Supporting Parent Carers’ Wellbeing in primary care
    Oct 19 2026

    Content Warning: This episode discusses sensitive topics around mental health and wellbeing. Support resources are provided below.

    In this final episode of Research to Reality in Rare Syndromes, Dr Marie Dunnion talks with Dr Nicky Thomas, Research Fellow at the University of Warwick, and parent carer Fiona England about parental mental health and wellbeing.

    Nicky shares insights from her PhD research, exploring how general practice can support the mental and physical health and wellbeing of parents caring for children with intellectual disabilities.

    Fiona reflects on her experiences as a single parent of three, including her 21-year-old son, Dan, who has Down syndrome and multiple complex needs, including a severe learning disability, speech and language delay, and a hearing impairment.

    For links to research, resources, and charities or support services, see below:

    Charities and Support Services

    • Affinity Hub – supporting parents of disabled children and adults and signposting to professional support.
    • Cerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.
    • Contact Us | Samaritans
    • Parent and carer support and advice line | Let's Talk Well

    Research

    • Carers week report 2026
    • RESEARCH | Cerebra Network – there are a number of projects happening across the network.
    • Digital psychological wellbeing interventions for family carers of children and adults with intellectual and developmental disabilities: a systematic review
    • General Practice (GP) experiences for parents of children with intellectual disability: a systematic review
    • The SPaCE Project: Support for Parent Carers in England - a project to examine the prevalence and pathways to treatment for mental health problems in parent carers of children with special educational needs or disabilities.

    Resources

    • Autism: NHS Sensory-Friendly Environments Project
    • Cerebra A-Z of All Parent Carer Guides
    • Carers’ Assessments in England - Cerebra Parent Carer Guide
    • Carers’ Assessments in Wales - Cerebra Parent Carer Guide
    • Getting support to stay in work and to take breaks from your caring responsibilities in England - Cerebra Parent Carer Guide
    • Looking after your own wellbeing as a parent/carer of a child with a brain condition - Cerebra
    • Money Matters - Cerebra
    • My Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.
    • My Wellbeing Plan - Cerebra

    For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network
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    45 min
  • Episode 7: Behind the Behaviour: Understanding the Causes

    Episode 7: Behind the Behaviour: Understanding the Causes
    Oct 5 2026
    In this episode, Dr Marie Dunnion talks with Dr Hayley Crawford, an Associate Professor at the University of Warwick. Hayley specialises in understanding mental health and behavioural outcomes in people with rare genetic syndromes and intellectual disabilities.In this discussion, Hayley introduces the Behaviour Checklist, a practical tool designed for parent carers and professionals to help identify the causes of Behaviours that Challenge (BtC) in children with moderate to profound intellectual disability. She explains why the checklist was developed, how it can be used in different settings, and its value as a reliable and accessible resource for families and clinicians.See below for links to resources, charities, support services, and related research:Funders: The Checklist Project was funded by Great Ormond Street Hospital Charity and supported by Cerebra. We gratefully acknowledge Dr Hayley Trower for leading the day-to-day research activities and providing critical intellectual input throughout the project. Cerebra NetworkCerebra Network Website – a UK-wide research team dedicated to improving the lives of people with neurodevelopmental conditions and rare genetic syndromes.Charities and Support ServicesAffinity Hub – supporting parents of disabled children and adults and signposting to professional support.Cerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.ResearchThe Development of the Behaviour Checklist research paper: Navigating care together: developing a collaborative checklist to improve care for children with intellectual disabilitiesDiagnosis and management of Cornelia de Lange syndrome: first international consensus statementDistress and challenging behavior in people with profound or severe intellectual disability and complex needs: Assessment of causes and evaluation of intervention outcomesSelf-injury and aggression in adults with tuberous sclerosis complex: frequency, associated person characteristics, and implications for assessmentProfiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromesThe behaviour and wellbeing of children and adults with severe intellectual disability and complex needs: the Be-Well checklist for carers and professionalsResourcesThe Behaviour Checklist - Downloadable CopyThe Checklist Manifesto: How to Get Things Right. Atul Gawande: Amazon.co.uk: BooksCerebra A-Z of All Parent Carer GuidesCerebra Parent Carer Guide: Looking after your own wellbeing as a parent/carer of a child with a brain conditionCerebra Parent Carer Guide: Managing challenging behaviour Cerebra Parent Carer Guide: Pain My 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
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    32 min
  • Episode 6: Looking Beyond the Diagnosis: Autism Characteristics & Diagnostic Overshadowing

    Episode 6: Looking Beyond the Diagnosis: Autism Characteristics & Diagnostic Overshadowing
    Sep 21 2026
    In this episode, we talk about ‘diagnostic overshadowing’ – a tendency to explain all behaviours with one diagnosis, potentially overlooking other needs. Dr Jo Moss shares her research on autism characteristics in people with genetic syndromes, while Debbie reflects on her daughter’s dual diagnosis of Down syndrome and autism. Together, they explore autism characteristics in the context of genetic syndromes, diagnostic overshadowing, and why sometimes it’s helpful to look beyond the child’s genetic syndrome diagnosis. 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) WebsiteSupporting the needs of children with genetic syndromes in education - Teacher Training Resource WebsiteResources Cerebra: Research Summary - Autism in genetic syndromes: Implications for assessment and interventionCerebra: Diagnostic Overshadowing Webinar Review Cerebra Parent Carer Guide: After diagnosis: what now? Cerebra Parent Carer Guide: Autism assessments and diagnosis in England Cerebra Parent Carer Guide: Autism assessments and diagnosis in Wales Cerebra Parent Carer Guide: Looking after your own wellbeing as a parent/carer of a child with a brain conditionMy Communication Passport – a practical and person-centred way of supporting children, young people and adults who cannot easily speak for themselves.Charities 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.Down Syndrome Education (DSE) – DSE works to improve education for children with Down syndrome everywhere.Down Syndrome Research Foundation | DSRF UKDown's Syndrome Association – The Down’s Syndrome Association (DSA) supports all people who have Down’s syndrome, their parents and carers and the professionals who work with them, throughout their lives.DS UK - Positive About Down Syndrome – a website by parents, for parents and parents to be.National Autistic Society – we're here to help the 700,000 autistic people in the UK and their families.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 and ReportsHeterogeneity of autism characteristics in genetic syndromes: key considerations for assessment and supportProfiles of autism characteristics in thirteen genetic syndromes: a machine learning approachReports | Embracing Complexity in Research – our recommendations for change across diagnosis, support and researchThe prevalence and profile of autism in Sturge–Weber syndromeVisual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: fragile X and Cornelia de Lange syndromes Useful LinksASD Bright Ideas – SEN Friendly Visual ResourcesWidgit Online – create, print, share and translate symbol materials onlineFor any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network
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    36 min
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