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Reaching a Consensus About Care Expectations, Comorbidities of SCN8A-Related Disorders: Gabi Conecker; JayEtta Hecker
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Representatives from the SCN8A Alliance provided clinical insight on a recently published paper that captured information on the estimated frequency, severity, and prognosis of comorbidities in SCN8A-related disorder phenotypes. [WATCH TIME: 5 minutes]
WATCH TIME: 5 minutes
"One of the key takeaways... is this extreme heterogeneity in SCN8A, with distinctions within these five phenotypes... there is one phenotype that has no epilepsy at all."
SCN8A-related disorders and/or neurodevelopmental disorders encompass a spectrum of phenotypes. These include Severe Developmental and Epileptic Encephalopathy (DEE), Mild/Moderate DEE, Self-Limited Infantile Epilepsy (SeL[F]IE), Neurodevelopmental Delay with Generalized Epilepsy (NDDwGE), and NDD without Epilepsy (NDDwoE). Earlier this year, a group of clinicians and caregivers published a global modified-Delphi consensus on comorbidities and overall outcomes in epilepsy, development, and non-seizure challenges for the 5 phenotypes of SCN8A-related disorders.
The core panel, which included 13 expert clinicians, 1 researcher, and 6 caregivers, was divided into workgroups that covered diagnosis and phenotypes, treatments, and comorbidities and prognosis. Each workgroup conducted a literature review, which was based on an initial literature search. The workgroups vetted and enhanced the preliminary review, adding new sources. Each developed questions for their area of focus and nominated clinicians and caregivers to join the review panel, who would serve as participants in the modified-Delphi process.
All told, consensus was reached on the presence of 14 comorbidities in patients with Severe DEE spanning non-seizure neurological disorders and other organ systems; impacts were mostly severe and unlikely to improve or resolve. Across Mild/Moderate DEE, NDDwGE, and NDDwoE phenotypes, cognitive and sleep-related comorbidities as well as fine and gross motor delayed were considered present but are less severe and more likely to improve compared with Severe DEE.
Lead author Gabi Conecker, along with her study author JayEtta Hecker, recently sat down to provide an overview of the findings, and some of the most notable takeaways for the clinical community. Conecker, who serves as executive director and co-founder of the SCN8A Alliance and is mom to Elliott who lives with SCN8A-DEE, highlighted the heterogeneity of SCN8A-related epilepsy and neurodevelopmental disorders, emphasizing the 5 distinct phenotypes, including one without epilepsy. Hecker, who serves as board chair and co-founder of the organization, discussed the consensus reached among clinicians and families about care expectations, contributing to a more unified and efficient approach to managing these complex, rare conditions. Above all, the duo stressed that the consensus guidelines provide a crucial reference for clinicians, even those with limited experience, ensuring more equitable and efficient care for this patient population.
