Research to Reality in Rare Syndromes

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

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 Network

• Cerebra Network Website – a UK-wide research team dedicated to improving the lives of people with neurodevelopmental conditions and rare genetic syndromes.

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.

Research

• The Development of the Behaviour Checklist research paper: Navigating care together: developing a collaborative checklist to improve care for children with intellectual disabilities
• Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
• Distress and challenging behavior in people with profound or severe intellectual disability and complex needs: Assessment of causes and evaluation of intervention outcomes
• Self-injury and aggression in adults with tuberous sclerosis complex: frequency, associated person characteristics, and implications for assessment
• Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes
• The behaviour and wellbeing of children and adults with severe intellectual disability and complex needs: the Be-Well checklist for carers and professionals

Resources

• The Behaviour Checklist - Downloadable Copy
• The Checklist Manifesto: How to Get Things Right. Atul Gawande: Amazon.co.uk: Books
• Cerebra A-Z of All Parent Carer Guides
• Cerebra Parent Carer Guide: Looking after your own wellbeing as a parent/carer of a child with a brain condition
• Cerebra 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

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 Websites

• Cerebra 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) Website
• Supporting the needs of children with genetic syndromes in education - Teacher Training Resource Website

Resources 

• Cerebra: Research Summary - Autism in genetic syndromes: Implications for assessment and intervention
• Cerebra: 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 condition
• 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

• Affinity Hub – supporting parents of disabled children and adults and signposting to professional support.
• Autistica - the UK’s leading autism research and campaigning charity
• Cerebra 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 UK
• Down'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 Reports

• Heterogeneity of autism characteristics in genetic syndromes: key considerations for assessment and support
• Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
• Reports | Embracing Complexity in Research – our recommendations for change across diagnosis, support and research
• The prevalence and profile of autism in Sturge–Weber syndrome
• Visual 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 Links

• ASD Bright Ideas – SEN Friendly Visual Resources
• Widgit Online – create, print, share and translate symbol materials online

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

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 Websites

• Cerebra 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) Website

Charities and Support Services

• Affinity Hub – supporting parents of disabled children and adults and signposting to professional support.
• Autistica - the UK’s leading autism research and campaigning charity
• Cerebra Charity Website – the national charity dedicated to helping children with brain conditions and their families discover a better life together.

Research

• Divergent presentation of anxiety in high-risk groups within the intellectual disability population
• Prevalence of anxiety symptomatology and diagnosis in syndromic intellectual disability: a systematic review and meta-analysis
• Diverse profiles of anxiety related disorders in fragile X, Cornelia de Lange and Rubinstein–Taybi syndromes
• Utilising 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 disability
• Development 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 syndromes
• Anxiety in autistic individuals who speak few or no words: a qualitative study of parental experience and anxiety management

Resources

• Anxiety guide for autistic individuals who speak few or no words: Anxiety in autistic children with learning disabilities: A guide 
• Cerebra Parent Carer Guide: Anxiety
• CLASP-ID Manual Request Form
• 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 

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 Project

• I-KNOW Project

Resources

• Cerebra Parent Carer Guide: Looking after your own wellbeing as a parent/carer of a child with a brain condition
• Cerebra Parent Carer Guide: Managing challenging behaviour
• Cerebra Parent Carer Guide: Self-injury in children with intellectual disability
• 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

• Cerebra 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 network
• The Development and Validation of Models of Risk for Behaviours That Challenge in Children With Developmental Disabilities: A Novel Machine Learning Approach
• For any enquiries, please complete the contact form on our website: CONTACT | Cerebra Network

Funders:

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:

Resources

• Cerebra: Get Your FREE Sleep Tips Booklet
• Cerebra: Sleep Advice Service 
• Cerebra: Sleep - A Guide for Parents
• Cerebra: Sleep Cards
• Cerebra Parent Carer Guide: Cognitive Difference: Cognitive Inflexibility and Impulsivity
• Cerebra Parent Carer Guide: Emotional Outbursts 
• Cerebra: FLACC Pain Scale Infographic
• Cerebra Parent Carer Guide: Managing challenging behaviour 
• Cerebra Parent Carer Guide: Mental Health in Children with Rare Genetic Conditions 
• Cerebra Parent Carer Guide: Pain
• Cerebra Parent Carer Guide: Self-injury in children with intellectual disability
• 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

• Cerebra 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.

Research

• RESEARCH | 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 outcomes
• Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction
• The Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers
• Kate Eden, et al.’s study: Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers
• Follow-up study by Wilde, et al.: Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex

Funders: 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 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

Facebook Pages

• Smith-Magenis Syndrome Foundation UK Facebook Page
• Cerebra Network Facebook Page                          

Research

• Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
• RESEARCH | 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 study

For 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:

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