More research to support quality of life urgently needed

Research into DEE-SWAS has made important progress in genetics, neurology and treatment. However, medical research takes time, and families do not have that time.

Within a year, DEE-SWAS can dramatically alter the trajectory of a child’s life, bringing profound changes to learning, friendships, family life and identity. For many families, it can feel like watching an older relative deteriorate with dementia, only it is a young child with their whole life and potential ahead of them. A child can lose the ability to learn, to talk, to connect and even to play.

Alongside medical advances, families urgently need evidence-based research that can guide practical strategies. Educators, therapists and disability professionals need better evidence to support children’s learning, relationships, emotional wellbeing and overall quality of life. This is particularly important in the context of fluctuating cognitive abilities and the uncertainty families face about long-term outcomes. These can range from significant intellectual disability to a return of previous abilities.

This section highlights the very limited research currently available to inform real-world support for children living with DEE-SWAS and their families.

Below, we hope to build a set of family-identified research priorities, contributed by families from around the world. These questions and ideas can help researchers better understand the priorities, challenges and everyday realities families are navigating across areas such as education, community participation, family life, emotional wellbeing, identity, carer wellbeing and quality of life.

Over time, this section aims to provide insight into the kinds of research that could meaningfully support children and families living with DEE-SWAS.