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1.
J Genet Couns ; 26(3): 532-540, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27618824

RESUMEN

Supervision is a practice that is utilized by a variety of practitioners to hone their counseling skills. Genetic counselors have embraced the supervision process, and some seek out supervision in a group setting with peers. Researchers have described the structure and content of genetic counseling peer supervision groups, and provided evidence for the benefits of seeking peer supervision. This study aimed to describe the interpersonal aspects of one genetic counseling peer supervision group, including personality traits and group dynamics, and how those factors influenced our experiences within the group. We also describe how the process of evaluating these factors impacted us individually and collectively. There was consensus that the group was a safe and trusting one, which was united by similar goals and mutual respect. Members reported gaining insights about how their own personality functioned within the group milieu, and also how the group setting impacted them. Based on our experiences, we recommend that other peer supervision groups consider similar self-evaluations on a periodic basis, both to enhance group functioning and to allow for increased self-awareness and professional growth.


Asunto(s)
Consejeros/psicología , Asesoramiento Genético , Procesos de Grupo , Relaciones Interpersonales , Grupo Paritario , Personalidad , Adulto , Femenino , Humanos
2.
Pediatr Neurol ; 66: 108-111, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27867041

RESUMEN

BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation. RESULTS: The first child responded to intravenous lidocaine with significant reduction in seizure frequency and was successfully transitioned to enteral mexiletine. Mexiletine was subsequently used in a second infant with reduction in seizure frequency. CONCLUSION: Class 1b antiarrhythmic agents, lidocaine and mexiletine, may be useful in infants with medically refractory early infantile epileptic encephalopathy secondary to mutations in SCN2A.


Asunto(s)
Anticonvulsivantes/administración & dosificación , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Mexiletine/administración & dosificación , Canal de Sodio Activado por Voltaje NAV1.2/genética , Bloqueadores del Canal de Sodio Activado por Voltaje/administración & dosificación , Administración Oral , Antiarrítmicos/administración & dosificación , Epilepsia/fisiopatología , Humanos , Lactante , Recién Nacido , Mutación
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