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1.
Orphanet J Rare Dis ; 18(1): 225, 2023 08 03.
Artículo en Inglés | MEDLINE | ID: mdl-37537625

RESUMEN

BACKGROUND: Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be highly treatment-refractory. RESULTS: We describe a targeted ABA n-of-1 treatment trial with intrathecal MgSO4, rationally designed based on the electrophysiologic properties of this gain of function mutation in the GRIN1 NMDA subunit. CONCLUSION: Although the invasive nature of the trial necessitated a short-term, non-randomized, unblinded intervention, quantitative longitudinal neurophysiologic monitoring indicated benefit, providing class II evidence in support of intrathecal MgSO4 for select forms of GRIN disorders.


Asunto(s)
Discapacidad Intelectual , Magnesio , Humanos , Discapacidad Intelectual/genética , Magnesio/metabolismo , Mutación/genética , Proteínas del Tejido Nervioso/genética , Receptores de N-Metil-D-Aspartato/genética , Convulsiones/genética , Estudios de Casos Únicos como Asunto
2.
Train Educ Prof Psychol ; 15(3): 202-210, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34539946

RESUMEN

Previous research suggests some psychologists may not consider academic careers because of doubts about their teaching competency, and this is especially true for psychologists interested in aging (i.e., geropsychologists). To enhance competencies in the practice of education, we developed a webinar series, Advancing Your Confidence as an Educator, to bolster skills and attitudes toward teaching and improve attitudes about careers in aging. Seven hour-long webinars addressed key skills in developing and executing courses and professional presentations, and 2 panel sessions addressed attitudes toward teaching by featuring early- and later-career professionals discussing their paths to and satisfaction with jobs as educators. Attendance across the highly interactive sessions was robust (M = 50). Evaluation data suggest the webinar was effective in meeting educational needs. To promote sustainable impact, the webinars are archived and freely available online. Challenges in marketing and evaluation arose, but overall, this effort is one way of cultivating a more vigorous interest and self-confidence in teaching.

3.
Clin J Pain ; 34(11): 983-990, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29794496

RESUMEN

OBJECTIVES: Neuromodulation, particularly intrathecal drug delivery systems and spinal cord stimulators (SCSs), can be a valuable tool when treating chronic pain in adults. However, there is a paucity of literature with regard to its use in pediatrics. MATERIALS AND METHODS: We present a series of 14 children and adolescents with intractable pain who received a SCS or a pump for the intrathecal delivery of medications between 2010 and 2016 at our institution. RESULTS: During the study period, we placed 10 intrathecal pumps and 4 SCSs with an average age of 17 years old. Pain scores significantly improved after the implant (P<0.007) and function improved in 79% of patients. Opioid use was also significantly reduced. Three patients eventually had their device removed due to psychiatric comorbidities. Four patients had complications that were treated without further sequelae. CONCLUSIONS: Neuromodulation can offer important options in treating some pediatric chronic pain patients. In-depth knowledge of primary disease and strict patient selection in the context of the patient's social situation is vital to successful treatment.


Asunto(s)
Terapia por Estimulación Eléctrica , Dolor Intratable/terapia , Adolescente , Analgésicos/administración & dosificación , Niño , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Bombas de Infusión , Inyecciones Espinales , Masculino , Trastornos Mentales/epidemiología , Dimensión del Dolor , Dolor Intratable/epidemiología , Complicaciones Posoperatorias , Resultado del Tratamiento , Adulto Joven
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