Publications by authors named "Katie R Sullivan"
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.
Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position.
Article Synopsis
- Individuals with STXBP1-related epilepsy often have seizures in their first year, including epileptic spasms, but the effects of early seizures and antiseizure medications (ASMs) on later seizure types are not well understood.
- A study analyzed seizure and medication histories of 61 patients with early onset seizures, finding no increased risk of developing epileptic spasms from neonatal or early infantile seizures, nor any specific ASM linked to this development.
- The research highlights that individuals with prior seizures are at risk for refractory epileptic spasms, but those with refractoriness experience a later onset of spasms, providing key insights for targeted treatment strategies.
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1-related disorders and established a natural history framework.
View Article and Find Full Text PDFBackground And Objectives: Individuals with disease-causing variants in frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early-onset seizures and anti-seizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory is poorly understood, limiting informed and anticipatory treatment, as well as trial design.
Methods: We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with -related disorders with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response.
Article Synopsis
- The study investigates neurodevelopmental disorders caused by pathogenic variants, focusing on individuals without epilepsy, as little is known about their development and potential treatment endpoints beyond seizure control.
- Researchers conducted a retrospective study collecting data from 71 individuals, including 44 new cases, assessing their medical histories and developmental outcomes using standardized measures.
- Findings revealed that 25% of the participants did not have epilepsy, and those without it generally had better motor function and developmental outcomes, suggesting distinct clinical features between individuals with and without a history of seizures.
-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with -related disorders and established a natural history framework.
View Article and Find Full Text PDFIntroduction: Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor.
Methods: Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES.
Objective: STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures.
Methods: We conducted semistructured, qualitative interviews with 19 caregivers of 16 individuals with STXBP1-related disorders and 7 healthcare professionals.
Cerebral cavernous malformation (CCM) is a genetic, cerebrovascular disease. Familial CCM is caused by genetic mutations in , , or Disease onset is earlier and more severe in individuals with mutations. Recent studies have shown that lesions arise from excess mitogen-activated protein kinase kinase kinase 3 (MEKK3) signaling downstream of Toll-like receptor 4 (TLR4) stimulation by lipopolysaccharide derived from the gut microbiome.
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