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1.
Clin Case Rep ; 5(7): 1167-1169, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28680619

RESUMO

Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

2.
J Genet Couns ; 25(6): 1286-1297, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27197821

RESUMO

Many genetic counselors provide supervision to students during their career. Previous studies have shown genetic counselors, in general, are at increased risk for developing compassion fatigue. The purpose of this study was to determine if there was a difference in compassion fatigue and burnout levels in genetic counselors who currently supervise compared to genetic counselors who do not. Genetic counselors who currently practice in a clinical setting (N = 391) completed an online survey containing demographic questions, the Professional Quality of Life Scale, the State-Trait Anxiety Inventory, and questions specific to the genetic counselor's experiences with supervision. Overall, when controlling for trait-anxiety, the supervision role by itself was not independently associated with the risk for compassion fatigue and burnout among genetic counselors. Within supervisors, however, there were several factors which were associated with this risk. Those with less supervision experience reported more secondary traumatic stress. Those supervisors reporting less confidence had decreased compassion satisfaction. Those with less experience or less confidence in their supervision role were most likely to be at increased risk for developing compassion fatigue. Training in supervision and support for dealing with compassion fatigue and burnout may be beneficial to supervisors with less experience.


Assuntos
Esgotamento Profissional , Fadiga de Compaixão , Aconselhamento Genético/psicologia , Pessoal de Saúde/psicologia , Adulto , Ansiedade , Empatia , Feminino , Humanos , Masculino , Qualidade de Vida , Inquéritos e Questionários , Adulto Jovem
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