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Optimizing Care for SCN8A Epilepsy and Related Disorders: Gabi Conecker; JayEtta Hecker
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Representatives from the SCN8A Alliance discussed ways to improve the quality of life for children with SCN8A-related epilepsy, highlighting the critical role of early genetic diagnosis and targeted interventions. [WATCH TIME: 4 minutes]
WATCH TIME: 4 minutes
"Getting a genetic diagnosis...can really help get kids on the right path right away, especially when we know certain treatments like levetiracetam can be detrimental."
Earlier this year, a global panel of clinicians and researchers published findings from a modified-Delphi process study gaining insight on the comorbidities in individuals with SCN8A-related disorders. The study revealed several common comorbidities agreed upon, which impacted areas of speech, sleep, intellectual disability, fine and gross motor, and behavior and emotional dysregulation. In those with severe developmental encephalopathy, considered the most profound of the 5 phenotypes, patients experienced 14 different comorbidities, which included instances of hypotonia and cortical visual impairment, among others.
Led by Gabi Conecker, JayEtta Hecker, and others, the process yielded consensus on information around the estimated frequency, severity, and prognosis of these comorbidities in all SCN8A-related disorder phenotypes. It also provided knowledge on the resources to manage these comorbidities, as well as the overall prognosis clinicians can expect. The hope is that this information may help improve the overall management and long-term outcomes for symptoms behind seizures for this patient population.
In a conversation with NeurologyLive®,Conecker, who serves as executive director and co-founder of the SCN8A Alliance and is mom to Elliott who lives with SCN8A-DEE, spoke on the importance of early genetic testing and how it allows to make informed decisions, such as avoiding ineffective treatments like levetiracetam, which is known to worsen symptoms in most patients. Hecker, who serves as board chair and co-founder of the organization, provided discussed how access to complex critical care pediatricians and centralized care is crucial in managing the multifaceted challenges faced by these children and their families. The duo stressed that optimizing outcomes, while difficult, is possible with the right interventions.
