Understanding Developmental and Epileptic Encephalopathies

Developmental and Epileptic Encephalopathies (DEEs) are not only rare but also devastating lifelong conditions that manifest in debilitating seizures and a host of cognitive, motor, and behavioral challenges. The impact is far-reaching, affecting gastrointestinal, musculoskeletal, respiratory, and cardiac systems, resulting in a sky-high mortality rate.

The Challenge of Diagnosis in Adults

Despite advancements in the diagnosis of DEEs, a significant void exists for adults, particularly those in non-specialist residential care. For these individuals and their caregivers, delayed diagnosis often leads to missed opportunities for improved care and a better quality of life. This critical issue was spotlighted at the recent 36th International Epilepsy Congress in Lisbon, where UCB unveiled a qualitative study shedding light on diagnostic barriers and potential benefits for adult DEE patients.

The Environment Matters: Care Settings Under the Microscope

One striking revelation from the study is how care environments—ranging from specialist centers to non-specialist facilities—affect DEE recognition and diagnosis. Specialist centers, staffed with multidisciplinary teams, are much more effective at identifying DEEs and initiating necessary evaluations. Meanwhile, non-specialist facilities often lack the awareness and coordinated services needed to encourage proper diagnostic processes. General practitioners and neurologists may focus solely on medication management, overlooking crucial holistic evaluations, which stalls the diagnostic journey.

Families: The Unsung Heroes in the Diagnostic Journey

The road to diagnosis isn't just a clinical hurdle; it is an emotional labyrinth for families. Concerns about changes in medication, care providers, and access to services can lead to hesitancy in pursuing new diagnoses. The emotional toll of facing a more complex condition can be overwhelming, and families need comprehensive support that encompasses medical, emotional, practical, and informational resources.

Why a Diagnosis Matters: Unlocking Benefits and Empowerment

Despite the challenges, securing a definitive DEE diagnosis in adulthood opens the door to transformative benefits. A clear diagnosis paves the way for holistic, person-centered care that goes beyond managing seizures to addressing the full spectrum of patient needs. This not only enhances quality of life but also aids in better communication and reduces hospitalization risks through proactive treatment.

Moreover, a diagnosis empowers families and caregivers, giving them the tools they need to seek appropriate support and resources. For adults grappling with DEEs, a diagnosis signals recognition of their unique needs and a commitment to enhancing their quality of life.

Looking Forward: A Call for Awareness and Education

To bridge the diagnostic divide for adults with DEEs, it is crucial to ramp up awareness and education among healthcare professionals, especially in non-specialist contexts. By fostering a deeper understanding of DEEs that encompasses more than seizures, care teams can initiate vital conversations that advocate for comprehensive care.

Ultimately, identifying DEEs in adults transcends mere diagnostics—it is about honoring the complexity of individual experiences and ensuring that everyone receives the understanding, care, and dignity they rightfully deserve.