Developmental and Epileptic Encephalopathies (DEEs) are rare, severe and lifelong epileptic syndromes that not only cause seizures, but also cognitive and motor challenges, and behavioural issues, as well as gastrointestinal, musculoskeletal, respiratory, and cardiac manifestations, together with a considerably increased mortality rate.
While much progress has been made in diagnosing DEEs, a significant gap remains for adults – especially those living in non-specialist residential care settings. For these individuals and their caregivers, the absence of a timely diagnosis can mean missed opportunities for improved care and quality of life.
At the 36th International Epilepsy Congress in Lisbon, UCB presented results from a qualitative study aimed at shining a light on the barriers and potential benefits associated with diagnosing DEEs in adults. Through interviews with caregivers, specialist nurses, and healthcare professionals in the UK, Germany, France, and Spain, the study mapped out the realities faced in various care environments and highlighted urgent areas for improvement.
The impact of care settings
One of the study’s key findings is the critical role of the care environment, which varies across countries and settings. Specialist centers, where multidisciplinary teams and well-trained staff are present, are more likely to recognize DEEs, initiate diagnostic evaluations, and optimize patient care.
In contrast, non-specialist care settings often lack awareness of DEEs and show poor integration of services, limiting the drive for diagnostic review. Primary care physicians or general neurologists tend to focus on seizure and medication management and may overlook holistic issues, which can be a barrier to diagnostic referral. Expanding the scope of clinical reviews to include developmental assessments supports better identification of patients who may benefit from a diagnostic review and a DEE diagnosis.
Supporting families through a diagnosis
Outside of the care setting, families may also hesitate to pursue a new diagnosis. They may be anxious that it could necessitate changes in medication, care providers, or eligibility for services, potentially destabilizing the individual’s condition or quality of life. Emotional burden of confronting a new or more complex diagnosis can also be overwhelming.
Families need to be provided with a variety of support mechanisms, combining medical, emotional, practical, and informational resources.
Unlocking the benefits of a diagnosis
Despite these challenges, the benefits of a confirmed DEE diagnosis in adulthood are significant. A clear diagnosis can enable a shift towards holistic, person-centered care that addresses not only seizures but also the full spectrum of needs, improving quality of life and enhancing communication. Improved understanding can also reduce the risk of hospitalizations by anticipating complications and tailoring interventions more effectively.
A diagnosis also brings clarity to families and caregivers, empowering them to advocate for appropriate support and resources. For adults living with DEEs, it signals that their unique needs are recognized and that there is a commitment to improving their quality of life.
Looking ahead: the need for awareness and education
Bridging the diagnostic gap for adults with DEEs requires greater awareness and education among healthcare professionals, especially in non-specialist settings. By fostering a broader understanding of DEEs – and focusing on more than seizures – care teams can initiate important conversations and advocate for holistic care.
Ultimately, identifying DEEs in adults is about more than just a diagnosis. It is about acknowledging the complexity of each individual’s experience and ensuring they receive the understanding, care, and dignity they deserve.
Learn more about the non-seizure impact of DEEs here – More than seizures | UCB